Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal adipose tissue morphology (HP:0009124)

Parent Node:
Lipodystrophy (HP:0009125)

..Starting node
..Lipoatrophy (HP:0100578)

Term ID:

100578

Name:

Lipoatrophy

Synonym:

Atrophy of fat; Loss of fat tissue in localised area; Loss of fat tissue in localized area

Definition:

Localized loss of fat tissue.

Comments:

Reference:

HP:0100578

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital generalized lipodystrophy (HP:0009059)

Generalized lipodystrophy (HP:0009064)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100578	HP:0100578	Lipoatrophy	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	254
HP:0100578	HP:0100578	Lipoatrophy	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0100578	HP:0100578	Lipoatrophy	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	208
HP:0100578	HP:0100578	Lipoatrophy	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	307
HP:0100578	HP:0100578	Lipoatrophy	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0100578	HP:0100578	Lipoatrophy	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	95
HP:0100578	HP:0100578	Lipoatrophy	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	204
HP:0100578	HP:0100578	Lipoatrophy	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0100578	HP:0100578	Lipoatrophy	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0100578	HP:0100578	Lipoatrophy	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0100578	HP:0100578	Lipoatrophy	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent	7
HP:0100578	HP:0100578	Lipoatrophy	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent	749
HP:0100578	HP:0100578	Lipoatrophy	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	46
HP:0100578	HP:0100578	Lipoatrophy	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	104
HP:0100578	HP:0100578	Lipoatrophy	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	263
HP:0100578	HP:0100578	Lipoatrophy	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1496
HP:0100578	HP:0100578	Lipoatrophy	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	55
HP:0100578	HP:0100578	Lipoatrophy	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	358
HP:0100578	HP:0100578	Lipoatrophy	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	747
HP:0100578	HP:0100578	Lipoatrophy	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100578	HP:0100578	Lipoatrophy	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0100578	HP:0100578	Lipoatrophy	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional	1361
HP:0100578	HP:0100578	Lipoatrophy	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	36
HP:0100578	HP:0100578	Lipoatrophy	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	184
HP:0100578	HP:0100578	Lipoatrophy	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent	493
HP:0100578	HP:0100578	Lipoatrophy	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0100578	HP:0100578	Lipoatrophy	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	35
HP:0100578	HP:0100578	Lipoatrophy	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	2
HP:0100578	HP:0100578	Lipoatrophy	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0100578	HP:0100578	Lipoatrophy	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	279
HP:0100578	HP:0100578	Lipoatrophy	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	286
HP:0100578	HP:0100578	Lipoatrophy	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0100578	HP:0100578	Lipoatrophy	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0100578	HP:0100578	Lipoatrophy	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	645
HP:0100578	HP:0100578	Lipoatrophy	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0100578	HP:0100578	Lipoatrophy	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040281 - Very frequent	645
HP:0100578	HP:0100578	Lipoatrophy	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0100578	HP:0100578	Lipoatrophy	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040281 - Very frequent	11
HP:0100578	HP:0100578	Lipoatrophy	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0100578	HP:0100578	Lipoatrophy	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1143
HP:0100578	HP:0100578	Lipoatrophy	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	452
HP:0100578	HP:0100578	Lipoatrophy	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1269
HP:0100578	HP:0100578	Lipoatrophy	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	217
HP:0100578	HP:0100578	Lipoatrophy	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	167
HP:0100578	HP:0100578	Lipoatrophy	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0100578	HP:0100578	Lipoatrophy	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0100578	HP:0100578	Lipoatrophy	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0100578	HP:0100578	Lipoatrophy	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0100578	HP:0100578	Lipoatrophy	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0100578	HP:0100578	Lipoatrophy	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	57
HP:0100578	HP:0100578	Lipoatrophy	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0100578	HP:0100578	Lipoatrophy	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0100578	HP:0100578	Lipoatrophy	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040280 - Obligate	42
HP:0100578	HP:0100578	Lipoatrophy	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0100578	HP:0100578	Lipoatrophy	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	148
HP:0100578	HP:0100578	Lipoatrophy	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	241
HP:0100578	HP:0100578	Lipoatrophy	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	59
HP:0100578	HP:0100578	Lipoatrophy	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	212
HP:0100578	HP:0100578	Lipoatrophy	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	363
HP:0100578	HP:0100578	Lipoatrophy	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0100578	HP:0100578	Lipoatrophy	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0100578	HP:0100578	Lipoatrophy	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0100578	HP:0100578	Lipoatrophy	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0100578	HP:0100578	Lipoatrophy	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0100578	HP:0100578	Lipoatrophy	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0100578	HP:0100578	Lipoatrophy	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1134
HP:0100578	HP:0100578	Lipoatrophy	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	304
HP:0100578	HP:0100578	Lipoatrophy	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	223
HP:0100578	HP:0100578	Lipoatrophy	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0100578	HP:0100578	Lipoatrophy	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0100578	HP:0100578	Lipoatrophy	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0100578	HP:0100578	Lipoatrophy	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	78
HP:0100578	HP:0100578	Lipoatrophy	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	136
HP:0100578	HP:0100578	Lipoatrophy	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	73
HP:0100578	HP:0100578	Lipoatrophy	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	180
HP:0100578	HP:0100578	Lipoatrophy	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0100578	HP:0100578	Lipoatrophy	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	230
HP:0100578	HP:0100578	Lipoatrophy	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56
HP:0100578	HP:0100578	Lipoatrophy	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	7128
HP:0100578	HP:0100578	Lipoatrophy	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	85
HP:0100578	HP:0100578	Lipoatrophy	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0100578	HP:0100578	Lipoatrophy	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310

Genes (73) :ABCC9 ACTB ACTC1 ACTN2 ADAR ANKRD1 BAG3 BAG5 BANF1 CAP2 CLMP COL3A1 CRYAB CSRP3 DES DMD DOLK DSG2 DSP FBN1 FHL2 FKTN FLNA FUCA1 GATAD1 HAND2 IFIH1 LAMA4 LDB3 LMNA LMNB2 LSM11 MYBPC3 MYH6 MYH7 MYPN NEXN PDGFRB PIK3CA PIK3R1 PLIN1 PLN POLR3A PPARG PPCS PRDM16 PSEN1 PSEN2 RAF1 RBM20 RBM28 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SCN5A SDHA SGCD SLC25A24 TAF1A TAFAZZIN TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TREX1 TTN TXNRD2 VCL WRN

Diseases (27) :ORPHA:154 ORPHA:64755 ORPHA:51 OMIM:614008 ORPHA:2301 ORPHA:2500 OMIM:616914 ORPHA:284979 ORPHA:2833 ORPHA:349 ORPHA:79474 ORPHA:280365 ORPHA:2348 ORPHA:79084 ORPHA:363618 ORPHA:79087 OMIM:601812 ORPHA:276280 OMIM:269880 OMIM:613877 ORPHA:280356 ORPHA:3455 OMIM:264090 ORPHA:79083 ORPHA:157954 ORPHA:2963 ORPHA:902

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

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