Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Abnormal elasticity of skin (HP:0010647)help
..Starting node
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Lack of skin elasticity (HP:0100679)help
Term ID: 100679
Name: Lack of skin elasticity
Synonym: Tight skin
Definition:
Comments:
Reference: HP:0100679
Genes and Diseases:
 
       Child Nodes:
........expandStriae distensae (HP:0001065) help

 Sister Nodes: 
..expandAbnormally lax or hyperextensible skin (HP:0008067) help
..expandSoft skin (HP:0000977) 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:0100679HP:0100679Lack of skin elasticity0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent130
HP:0100679HP:0100679Lack of skin elasticity0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent415
HP:0100679HP:0100679Lack of skin elasticity0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0100679HP:0100679Lack of skin elasticity0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0100679HP:0100679Lack of skin elasticity0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent75
HP:0100679HP:0100679Lack of skin elasticity0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent63
HP:0100679HP:0100679Lack of skin elasticity0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100679HP:0100679Lack of skin elasticity0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0100679HP:0100679Lack of skin elasticity0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0100679HP:0100679Lack of skin elasticity0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0100679HP:0100679Lack of skin elasticity0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0100679HP:0100679Lack of skin elasticity0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0100679HP:0100679Lack of skin elasticity0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0100679HP:0100679Lack of skin elasticity0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0100679HP:0100679Lack of skin elasticity0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0100679HP:0100679Lack of skin elasticity0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0100679HP:0100679Lack of skin elasticity0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0100679HP:0100679Lack of skin elasticity0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0100679HP:0100679Lack of skin elasticity0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0100679HP:0100679Lack of skin elasticity0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent54
HP:0100679HP:0100679Lack of skin elasticity0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0100679HP:0100679Lack of skin elasticity0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent45
HP:0100679HP:0100679Lack of skin elasticity0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent151
HP:0100679HP:0100679Lack of skin elasticity0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent63
HP:0100679HP:0100679Lack of skin elasticity0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0100679HP:0100679Lack of skin elasticity0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0100679HP:0100679Lack of skin elasticity0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040281 - Very frequent1361
HP:0100679HP:0100679Lack of skin elasticity0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0100679HP:0100679Lack of skin elasticity0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0100679HP:0100679Lack of skin elasticity0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0100679HP:0100679Lack of skin elasticity0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0100679HP:0100679Lack of skin elasticity0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0100679HP:0100679Lack of skin elasticity0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0100679HP:0100679Lack of skin elasticity0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0100679HP:0100679Lack of skin elasticity0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0100679HP:0100679Lack of skin elasticity0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional645
HP:0100679HP:0100679Lack of skin elasticity0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent
HP:0100679HP:0100679Lack of skin elasticity0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional
HP:0100679HP:0100679Lack of skin elasticity0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent60
HP:0100679HP:0100679Lack of skin elasticity0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0100679HP:0100679Lack of skin elasticity0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040283 - Occasional641
HP:0100679HP:0100679Lack of skin elasticity0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100679HP:0100679Lack of skin elasticity0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0100679HP:0100679Lack of skin elasticity0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100679HP:0100679Lack of skin elasticity0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100679HP:0100679Lack of skin elasticity0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0100679HP:0100679Lack of skin elasticity0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100679HP:0100679Lack of skin elasticity0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0100679HP:0100679Lack of skin elasticity0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100679HP:0100679Lack of skin elasticity0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0100679HP:0100679Lack of skin elasticity0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100679HP:0100679Lack of skin elasticity0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0100679HP:0100679Lack of skin elasticity0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent2
HP:0100679HP:0100679Lack of skin elasticity0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0100679HP:0100679Lack of skin elasticity0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0100679HP:0100679Lack of skin elasticity0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0100679HP:0100679Lack of skin elasticity0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndromeHP:0040281 - Very frequent6
HP:0100679HP:0100679Lack of skin elasticity0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0100679HP:0100679Lack of skin elasticity0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent4
HP:0100679HP:0100679Lack of skin elasticity0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0100679HP:0100679Lack of skin elasticity0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0100679HP:0100679Lack of skin elasticity0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0100679HP:0100679Lack of skin elasticity0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0100679HP:0100679Lack of skin elasticity0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0100679HP:0100679Lack of skin elasticity0TGM1 CL E G H705111777ORPHA:281127Acral self-healing collodion babyHP:0040281 - Very frequent98
HP:0100679HP:0100679Lack of skin elasticity0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent98
HP:0100679HP:0100679Lack of skin elasticity0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0100679HP:0100679Lack of skin elasticity0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0100679HP:0100679Lack of skin elasticity0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0100679HP:0100679Lack of skin elasticity0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0100679HP:0100679Lack of skin elasticity0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0100679HP:0100679Lack of skin elasticity0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0100679HP:0100679Lack of skin elasticity0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83
HP:0100679HP:0100679Lack of skin elasticity0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0100679HP:0001065Striae distensae1ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent415
HP:0100679HP:0001065Striae distensae1AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0100679HP:0001065Striae distensae1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100679HP:0001065Striae distensae1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0100679HP:0001065Striae distensae1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0100679HP:0001065Striae distensae1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0100679HP:0001065Striae distensae1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0100679HP:0001065Striae distensae1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0100679HP:0001065Striae distensae1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0100679HP:0001065Striae distensae1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0100679HP:0001065Striae distensae1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0100679HP:0001065Striae distensae1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0100679HP:0001065Striae distensae1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0100679HP:0001065Striae distensae1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0100679HP:0001065Striae distensae1DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0100679HP:0001065Striae distensae1ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent151
HP:0100679HP:0001065Striae distensae1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0100679HP:0001065Striae distensae1FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0100679HP:0001065Striae distensae1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0100679HP:0001065Striae distensae1GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0100679HP:0001065Striae distensae1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0100679HP:0001065Striae distensae1IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0100679HP:0001065Striae distensae1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0100679HP:0001065Striae distensae1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100679HP:0001065Striae distensae1PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0100679HP:0001065Striae distensae1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent13
HP:0100679HP:0001065Striae distensae1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent75
HP:0100679HP:0001065Striae distensae1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent2
HP:0100679HP:0001065Striae distensae1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0100679HP:0001065Striae distensae1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100679HP:0001065Striae distensae1PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0100679HP:0001065Striae distensae1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent134
HP:0100679HP:0001065Striae distensae1SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0100679HP:0001065Striae distensae1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0100679HP:0001065Striae distensae1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0100679HP:0001065Striae distensae1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0100679HP:0001065Striae distensae1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0100679HP:0001065Striae distensae1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0100679HP:0001065Striae distensae1TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0100679HP:0001065Striae distensae1TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0100679HP:0001065Striae distensae1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0100679HP:0001065Striae distensae1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0100679HP:0001065Striae distensae1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0100679HP:0001065Striae distensae1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0100679HP:0001065Striae distensae1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0100679HP:0001065Striae distensae1USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0100679HP:0001065Striae distensae1ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent


Genes (57) :ABCA12 ABCC6 ADAMTSL2 AIP ALOX12B ALOXE3 ARMC5 ASPRV1 ATRX BRAF CDH23 CDKN2A COL1A1 COL5A1 COL5A2 COPB1 CTNNB1 CUL4B CYP4F22 DLG4 EFEMP2 ENPP1 FBLN5 FBN1 GNAS HRAS IPO8 LIPN LMNA LTBP1 MTX2 NIPAL4 NR3C1 PAH PDE11A PDE8B POLD1 PRKACA PRKAR1A PYCR1 SDR9C7 SMAD2 SMAD3 SMARCAD1 SPEN SULT2B1 TERT TGFB2 TGFBR1 TGFBR2 TGM1 TP53 USP48 USP8 WRN ZMPSTE24 ZNRF3

Diseases (39) :ORPHA:313 ORPHA:758 OMIM:231050 OMIM:219090 ORPHA:189427 ORPHA:96253 ORPHA:1501 ORPHA:287 OMIM:619329 OMIM:619255 OMIM:300354 OMIM:618793 ORPHA:90349 OMIM:154700 OMIM:604308 ORPHA:2833 OMIM:608328 OMIM:219080 ORPHA:3071 ORPHA:60030 ORPHA:79474 ORPHA:740 ORPHA:90153 ORPHA:79254 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:615381 OMIM:610489 OMIM:612940 OMIM:619656 ORPHA:284984 OMIM:613795 ORPHA:384 OMIM:619312 OMIM:614816 OMIM:610168 ORPHA:281127 ORPHA:902
 

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