Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of connective tissue (HP:0003549)help
Parent Node:
expand
Abnormal adipose tissue morphology (HP:0009124)help
..Starting node
..expand
Lipodystrophy (HP:0009125)help
Term ID: 9125
Name: Lipodystrophy
Synonym: Inability to make and keep healthy fat tissue
Definition: Degenerative changes of the fat tissue.
Comments:
Reference: HP:0009125
Genes and Diseases:
 
       Child Nodes:
........expandCongenital generalized lipodystrophy (HP:0009059) help
........expandGeneralized lipodystrophy (HP:0009064) help
........expandLipoatrophy (HP:0100578) help

 Sister Nodes: 
..expandAbnormality of facial adipose tissue (HP:0000291) help
..expandAbnormality of subcutaneous fat tissue (HP:0001001) help
..expandAdipocyte hypertrophy (HP:0030759) help
..expandDecreased adipose tissue (HP:0040063) help
..expandDiet-resistant subcutaneous adipose tissue (HP:0025384) help
..expandIncreased adipose tissue (HP:0009126) help
..expandLower extremity subcutanous fat hypertrophy (HP:0031451) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandPanniculitis (HP:0012490) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009125HP:0009125Lipodystrophy0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0009125HP:0009125Lipodystrophy0ACTB CL E G H60132ORPHA:64755Becker nevus syndrome72
HP:0009125HP:0009125Lipodystrophy0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0009125HP:0009125Lipodystrophy0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0009125HP:0009125Lipodystrophy0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0009125HP:0009125Lipodystrophy0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent85
HP:0009125HP:0009125Lipodystrophy0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0009125HP:0009125Lipodystrophy0AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophyHP:0040280 - Obligate12
HP:0009125HP:0009125Lipodystrophy0ALB CL E G H213399OMIM:616000Analbuminemia104
HP:0009125HP:0009125Lipodystrophy0ALB CL E G H213399ORPHA:86816Congenital analbuminemiaHP:0040282 - Frequent104
HP:0009125HP:0009125Lipodystrophy0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0009125HP:0009125Lipodystrophy0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0009125HP:0009125Lipodystrophy0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0009125HP:0009125Lipodystrophy0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0009125HP:0009125Lipodystrophy0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0009125HP:0009125Lipodystrophy0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0009125HP:0009125Lipodystrophy0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0009125HP:0009125Lipodystrophy0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0009125HP:0009125Lipodystrophy0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0009125HP:0009125Lipodystrophy0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0009125HP:0009125Lipodystrophy0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0009125HP:0009125Lipodystrophy0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0009125HP:0009125Lipodystrophy0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent105
HP:0009125HP:0009125Lipodystrophy0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0009125HP:0009125Lipodystrophy0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0009125HP:0009125Lipodystrophy0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0009125HP:0009125Lipodystrophy0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent11
HP:0009125HP:0009125Lipodystrophy0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 3.11
HP:0009125HP:0009125Lipodystrophy0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0009125HP:0009125Lipodystrophy0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent48
HP:0009125HP:0009125Lipodystrophy0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0009125HP:0009125Lipodystrophy0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040280 - Obligate8
HP:0009125HP:0009125Lipodystrophy0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 5.8
HP:0009125HP:0009125Lipodystrophy0CLMP CL E G H7982724039ORPHA:2301Congenital short bowel syndrome7
HP:0009125HP:0009125Lipodystrophy0COL3A1 CL E G H12812201ORPHA:2500Acrogeria749
HP:0009125HP:0009125Lipodystrophy0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0009125HP:0009125Lipodystrophy0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0009125HP:0009125Lipodystrophy0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040283 - Occasional62
HP:0009125HP:0009125Lipodystrophy0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0009125HP:0009125Lipodystrophy0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0009125HP:0009125Lipodystrophy0DNASE2 CL E G H17772960OMIM:619858
HP:0009125HP:0009125Lipodystrophy0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0009125HP:0009125Lipodystrophy0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0009125HP:0009125Lipodystrophy0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0009125HP:0009125Lipodystrophy0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0009125HP:0009125Lipodystrophy0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional107
HP:0009125HP:0009125Lipodystrophy0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0009125HP:0009125Lipodystrophy0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0009125HP:0009125Lipodystrophy0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndrome1361
HP:0009125HP:0009125Lipodystrophy0FBN1 CL E G H22003603OMIM:184900STIFF SKIN SYNDROME; SSKS1361
HP:0009125HP:0009125Lipodystrophy0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent172
HP:0009125HP:0009125Lipodystrophy0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional68
HP:0009125HP:0009125Lipodystrophy0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0009125HP:0009125Lipodystrophy0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0009125HP:0009125Lipodystrophy0FLNA CL E G H23163754ORPHA:2301Congenital short bowel syndrome493
HP:0009125HP:0009125Lipodystrophy0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent
HP:0009125HP:0009125Lipodystrophy0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0009125HP:0009125Lipodystrophy0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0009125HP:0009125Lipodystrophy0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0009125HP:0009125Lipodystrophy0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0009125HP:0009125Lipodystrophy0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0009125HP:0009125Lipodystrophy0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0009125HP:0009125Lipodystrophy0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0009125HP:0009125Lipodystrophy0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome3
HP:0009125HP:0009125Lipodystrophy0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent196
HP:0009125HP:0009125Lipodystrophy0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0009125HP:0009125Lipodystrophy0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0009125HP:0009125Lipodystrophy0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040280 - Obligate7
HP:0009125HP:0009125Lipodystrophy0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 6.7
HP:0009125HP:0009125Lipodystrophy0LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040281 - Very frequent645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:300751Familial dilated cardiomyopathy with conduction defect due to LMNA mutationHP:0040282 - Frequent645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040281 - Very frequent645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling type645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636OMIM:212112Malouf syndrome.645
HP:0009125HP:0009125Lipodystrophy0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0009125HP:0009125Lipodystrophy0LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophy11
HP:0009125HP:0009125Lipodystrophy0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0009125HP:0009125Lipodystrophy0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009125HP:0009125Lipodystrophy0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0009125HP:0009125Lipodystrophy0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0009125HP:0009125Lipodystrophy0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0009125HP:0009125Lipodystrophy0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0009125HP:0009125Lipodystrophy0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0009125HP:0009125Lipodystrophy0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0009125HP:0009125Lipodystrophy0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type28
HP:0009125HP:0009125Lipodystrophy0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome162
HP:0009125HP:0009125Lipodystrophy0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0009125HP:0009125Lipodystrophy0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0009125HP:0009125Lipodystrophy0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 419
HP:0009125HP:0009125Lipodystrophy0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0009125HP:0009125Lipodystrophy0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0009125HP:0009125Lipodystrophy0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0009125HP:0009125Lipodystrophy0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0009125HP:0009125Lipodystrophy0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0009125HP:0009125Lipodystrophy0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0009125HP:0009125Lipodystrophy0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 22
HP:0009125HP:0009125Lipodystrophy0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent42
HP:0009125HP:0009125Lipodystrophy0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0009125HP:0009125Lipodystrophy0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophy42
HP:0009125HP:0009125Lipodystrophy0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0009125HP:0009125Lipodystrophy0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0009125HP:0009125Lipodystrophy0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0009125HP:0009125Lipodystrophy0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0009125HP:0009125Lipodystrophy0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0009125HP:0009125Lipodystrophy0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0009125HP:0009125Lipodystrophy0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0009125HP:0009125Lipodystrophy0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0009125HP:0009125Lipodystrophy0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0009125HP:0009125Lipodystrophy0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0009125HP:0009125Lipodystrophy0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0009125HP:0009125Lipodystrophy0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0009125HP:0009125Lipodystrophy0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0009125HP:0009125Lipodystrophy0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0009125HP:0009125Lipodystrophy0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0009125HP:0009125Lipodystrophy0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0009125HP:0009125Lipodystrophy0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0009125HP:0009125Lipodystrophy0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0009125HP:0009125Lipodystrophy0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0009125HP:0009125Lipodystrophy0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty type
HP:0009125HP:0009125Lipodystrophy0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0009125HP:0009125Lipodystrophy0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0009125HP:0009125Lipodystrophy0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional1129
HP:0009125HP:0009125Lipodystrophy0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional508
HP:0009125HP:0009125Lipodystrophy0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0009125HP:0009125Lipodystrophy0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0009125HP:0009125Lipodystrophy0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0009125HP:0009125Lipodystrophy0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional171
HP:0009125HP:0009125Lipodystrophy0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0009125HP:0009125Lipodystrophy0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0009125HP:0009125Lipodystrophy0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0009125HP:0009125Lipodystrophy0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0009125HP:0009125Lipodystrophy0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0009125HP:0009125Lipodystrophy0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0009125HP:0009125Lipodystrophy0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0009125HP:0009125Lipodystrophy0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0009125HP:0009125Lipodystrophy0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0009125HP:0009125Lipodystrophy0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0009125HP:0009125Lipodystrophy0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0009125HP:0009125Lipodystrophy0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0009125HP:0009125Lipodystrophy0ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophy83
HP:0009125HP:0009125Lipodystrophy0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0009125HP:0100578Lipoatrophy1ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional254
HP:0009125HP:0100578Lipoatrophy1ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040281 - Very frequent72
HP:0009125HP:0100578Lipoatrophy1ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional208
HP:0009125HP:0100578Lipoatrophy1ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional307
HP:0009125HP:0100578Lipoatrophy1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare116
HP:0009125HP:0100578Lipoatrophy1ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional95
HP:0009125HP:0100578Lipoatrophy1BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional204
HP:0009125HP:0100578Lipoatrophy1BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0009125HP:0100578Lipoatrophy1BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0009125HP:0009064Generalized lipodystrophy1BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040281 - Very frequent105
HP:0009125HP:0100578Lipoatrophy1CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0009125HP:0009064Generalized lipodystrophy1CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 3.11
HP:0009125HP:0100578Lipoatrophy1CLMP CL E G H7982724039ORPHA:2301Congenital short bowel syndromeHP:0040282 - Frequent7
HP:0009125HP:0100578Lipoatrophy1COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040281 - Very frequent749
HP:0009125HP:0100578Lipoatrophy1CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional46
HP:0009125HP:0100578Lipoatrophy1CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional104
HP:0009125HP:0100578Lipoatrophy1DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional263
HP:0009125HP:0100578Lipoatrophy1DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1496
HP:0009125HP:0100578Lipoatrophy1DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional55
HP:0009125HP:0100578Lipoatrophy1DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional358
HP:0009125HP:0100578Lipoatrophy1DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional747
HP:0009125HP:0009064Generalized lipodystrophy1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0009125HP:0100578Lipoatrophy1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0009125HP:0100578Lipoatrophy1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0009125HP:0100578Lipoatrophy1FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0009125HP:0100578Lipoatrophy1FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional36
HP:0009125HP:0100578Lipoatrophy1FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional184
HP:0009125HP:0100578Lipoatrophy1FLNA CL E G H23163754ORPHA:2301Congenital short bowel syndromeHP:0040282 - Frequent493
HP:0009125HP:0100578Lipoatrophy1FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0009125HP:0100578Lipoatrophy1GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional35
HP:0009125HP:0100578Lipoatrophy1HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional2
HP:0009125HP:0100578Lipoatrophy1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare28
HP:0009125HP:0009059Congenital generalized lipodystrophy1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040280 - Obligate3
HP:0009125HP:0009064Generalized lipodystrophy1KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0009125HP:0100578Lipoatrophy1LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional279
HP:0009125HP:0100578Lipoatrophy1LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional286
HP:0009125HP:0009064Generalized lipodystrophy1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040281 - Very frequent645
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional645
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040281 - Very frequent645
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040281 - Very frequent645
HP:0009125HP:0100578Lipoatrophy1LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0009125HP:0100578Lipoatrophy1LMNB2 CL E G H848236638ORPHA:79087Acquired partial lipodystrophyHP:0040281 - Very frequent11
HP:0009125HP:0100578Lipoatrophy1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare
HP:0009125HP:0009064Generalized lipodystrophy1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009125HP:0100578Lipoatrophy1MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1143
HP:0009125HP:0100578Lipoatrophy1MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional452
HP:0009125HP:0100578Lipoatrophy1MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1269
HP:0009125HP:0100578Lipoatrophy1MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional217
HP:0009125HP:0100578Lipoatrophy1NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional167
HP:0009125HP:0100578Lipoatrophy1PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0009125HP:0100578Lipoatrophy1PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040283 - Occasional162
HP:0009125HP:0100578Lipoatrophy1PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0009125HP:0100578Lipoatrophy1PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 4.19
HP:0009125HP:0100578Lipoatrophy1PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040280 - Obligate19
HP:0009125HP:0100578Lipoatrophy1PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional57
HP:0009125HP:0009059Congenital generalized lipodystrophy1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0009125HP:0100578Lipoatrophy1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0009125HP:0100578Lipoatrophy1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0009125HP:0100578Lipoatrophy1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040280 - Obligate42
HP:0009125HP:0100578Lipoatrophy1PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0009125HP:0100578Lipoatrophy1PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional148
HP:0009125HP:0100578Lipoatrophy1PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional241
HP:0009125HP:0100578Lipoatrophy1PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional59
HP:0009125HP:0009064Generalized lipodystrophy1PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0009125HP:0100578Lipoatrophy1RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional212
HP:0009125HP:0100578Lipoatrophy1RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional363
HP:0009125HP:0100578Lipoatrophy1RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0009125HP:0100578Lipoatrophy1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare33
HP:0009125HP:0100578Lipoatrophy1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare34
HP:0009125HP:0100578Lipoatrophy1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare60
HP:0009125HP:0100578Lipoatrophy1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare
HP:0009125HP:0100578Lipoatrophy1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare55
HP:0009125HP:0100578Lipoatrophy1SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1134
HP:0009125HP:0100578Lipoatrophy1SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional304
HP:0009125HP:0100578Lipoatrophy1SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional223
HP:0009125HP:0100578Lipoatrophy1SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0009125HP:0100578Lipoatrophy1TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0009125HP:0100578Lipoatrophy1TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0009125HP:0100578Lipoatrophy1TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional78
HP:0009125HP:0100578Lipoatrophy1TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional136
HP:0009125HP:0100578Lipoatrophy1TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional73
HP:0009125HP:0100578Lipoatrophy1TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional180
HP:0009125HP:0100578Lipoatrophy1TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0009125HP:0100578Lipoatrophy1TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional230
HP:0009125HP:0100578Lipoatrophy1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare56
HP:0009125HP:0100578Lipoatrophy1TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional7128
HP:0009125HP:0100578Lipoatrophy1TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional85
HP:0009125HP:0100578Lipoatrophy1VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0009125HP:0100578Lipoatrophy1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310
HP:0009125HP:0009064Generalized lipodystrophy1ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040282 - Frequent83
HP:0009125HP:0009064Generalized lipodystrophy1ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83


Genes (116) :ABCC9 ACTB ACTC1 ACTN2 ADAR AGPAT2 AKT2 ALB ALG3 ALG9 ANKRD1 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT7 BAG3 BAG5 BANF1 BSCL2 CAP2 CAV1 CAVIN1 CIDEC CLMP COL3A1 CRYAB CSRP3 DDOST DES DMD DNASE2 DOLK DPAGT1 DSG2 DSP EMD FBN1 FGFR1 FHL1 FHL2 FKTN FLNA FOS FUCA1 GATAD1 GRM7 HAND2 IFIH1 IGF1R KCNJ6 KRAS LAMA4 LDB3 LIPE LMF1 LMNA LMNB2 LSM11 MTX2 MYBPC3 MYH6 MYH7 MYPN NEXN OTULIN PDGFRB PIK3CA PIK3R1 PLIN1 PLN PMM2 POLD1 POLR3A POMP PPARG PPCS PRDM16 PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 PSMG2 RAF1 RBM20 RBM28 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SCN5A SDHA SGCD SLC25A24 SLC29A3 SPRTN SYNE1 SYNE2 TAF1A TAFAZZIN TCAP TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 TREX1 TTN TWIST2 TXNRD2 VCL VPS4A WRN ZMPSTE24

Diseases (80) :ORPHA:154 ORPHA:64755 ORPHA:51 ORPHA:528 OMIM:608594 ORPHA:79085 OMIM:616000 ORPHA:86816 ORPHA:79321 ORPHA:79328 ORPHA:357074 OMIM:219200 ORPHA:2834 ORPHA:75496 OMIM:614008 OMIM:269700 ORPHA:363400 OMIM:612526 OMIM:606721 OMIM:613327 ORPHA:435651 OMIM:615238 ORPHA:2301 ORPHA:2500 ORPHA:300536 OMIM:619858 ORPHA:86309 ORPHA:98863 OMIM:616914 ORPHA:284979 ORPHA:2833 OMIM:184900 ORPHA:2396 ORPHA:349 OMIM:618922 OMIM:270450 ORPHA:435628 OMIM:614098 ORPHA:435660 OMIM:615980 OMIM:246650 ORPHA:79474 ORPHA:98853 ORPHA:98855 ORPHA:280365 ORPHA:300751 ORPHA:2348 ORPHA:79084 OMIM:151660 ORPHA:363618 OMIM:212112 OMIM:248370 ORPHA:79087 OMIM:619127 OMIM:617099 OMIM:601812 ORPHA:276280 ORPHA:3163 OMIM:269880 OMIM:613877 ORPHA:280356 ORPHA:79318 OMIM:615381 OMIM:264090 ORPHA:3455 OMIM:618048 OMIM:604367 ORPHA:79083 OMIM:617591 OMIM:256040 OMIM:619183 ORPHA:157954 ORPHA:2963 ORPHA:168569 OMIM:616200 OMIM:209885 OMIM:619273 ORPHA:902 ORPHA:90154 OMIM:608612
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.