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:
Abnormality of subcutaneous fat tissue (HP:0001001)

Parent Node:
Decreased adipose tissue (HP:0040063)

..Starting node
..Reduced subcutaneous adipose tissue (HP:0003758)

Term ID:

3758

Name:

Reduced subcutaneous adipose tissue

Synonym:

Decreased subcutaneous adipose tissue; Decreased subcutaneous fat; Reduced fat tissue below the skin; Reduced subcutaneous fat; Scanty adipose tissue

Definition:

A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.

Comments:

Reference:

HP:0003758

Genes and Diseases:

Child Nodes:

........

Minimal subcutaneous fat (HP:0003717)

................... HP:0005320 Lack of facial subcutaneous fat

........

Decreased adipose tissue around neck (HP:0005995)

Sister Nodes:

Adipose tissue loss (HP:0008887)

Reduced intraabdominal adipose tissue (HP:0025128)

Reduced intrathoracic adipose tissue (HP:0003809)

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:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent	105
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent	229
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent	19
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0003758	HP:0003758	Reduced subcutaneous adipose tissue	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0003758	HP:0005995	Decreased adipose tissue around neck	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003758	HP:0003717	Minimal subcutaneous fat	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003758	HP:0003717	Minimal subcutaneous fat	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0003758	HP:0003717	Minimal subcutaneous fat	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0003758	HP:0003717	Minimal subcutaneous fat	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0003758	HP:0005995	Decreased adipose tissue around neck	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0003758	HP:0005320	Lack of facial subcutaneous fat	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11

Genes (30) :AGPAT2 ATP6V1A ATP6V1E1 BSCL2 CAV1 ERCC6 ERCC8 FBN1 FH GNB2 H4C5 IGF1R INSR KCNK9 LEMD2 LMNA NAA10 PLIN1 POLR3A PPARG PTF1A RBM28 SKI SLC25A24 SLC2A2 SOX18 TGFB1 TGFB3 TOP3A ZMPSTE24

Diseases (38) :OMIM:608594 OMIM:617403 OMIM:617402 OMIM:269700 ORPHA:363400 OMIM:612526 OMIM:606721 OMIM:133540 OMIM:216400 OMIM:616914 OMIM:154700 OMIM:606812 OMIM:619503 OMIM:619950 OMIM:270450 ORPHA:508 ORPHA:769 OMIM:612292 OMIM:619322 ORPHA:280365 OMIM:151660 OMIM:248370 OMIM:300855 ORPHA:280356 OMIM:264090 ORPHA:3455 OMIM:604367 OMIM:609069 OMIM:612079 OMIM:182212 OMIM:612289 ORPHA:2963 OMIM:227810 OMIM:137940 OMIM:131300 OMIM:615582 OMIM:618097 OMIM:608612

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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