Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Lipodystrophy, Congenital Generalized (D052497)
..Starting node ..Lipodystrophy, Congenital Generalized, Type 3 (C567282)
Child Nodes:
Sister Nodes:
..Lipodystrophy, Congenital Generalized, Type 3 (C567282)
..Lipodystrophy, Congenital Generalized, Type 4 (C567642)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6468

Name:

Lipodystrophy, Congenital Generalized, Type 3

Definition:

Alternative IDs:

OMIM:612526

ParentIDs:

MESH:D052497

TreeNumbers:

C16.320.565.398.745/C567282 |C17.800.849.391.550/C567282 |C18.452.584.625.550/C567282 |C18.452.648.398.745/C567282 |C18.452.880.391.550/C567282

Synonyms:

Berardinelli-Seip Congenital Lipodystrophy, Type 3 |Bscl3 |Cgl3 |Lipodystrophy, Berardinelli-Seip Congenital, Type 3

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Skin disease

Reference:

MedGen: C567282
MeSH: C567282
OMIM: 612526;

Genes: CAV1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000956	Acanthosis nigricans
3	HP:0000819	Diabetes mellitus
4	HP:0001397	Hepatic steatosis
5	HP:0001433	Hepatosplenomegaly
6	HP:0001007	Hirsutism
7	HP:0003124	Hypercholesterolemia
8	HP:0002155	Hypertriglyceridemia
9	HP:0002901	Hypocalcemia
10	HP:0000855	Insulin resistance
11	HP:0009125	Lipodystrophy
12	HP:0003758	Reduced subcutaneous adipose tissue
13	HP:0004322	Short stature

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001753.4(CAV1):c.112G>T (p.Glu38Ter)	857	CAV1	Pathogenic	121434501	RCV000008988;	N	MedGen:C2675861,OMIM:612526	7	116166660	116166660	NM_001753.4:c.112G>T	NP_001744.2:p.Glu38Ter	NC_000007.13:g.116166660G>T	OMIM Allelic Variant:601047.0001	C2675861 612526 Lipodystrophy, congenital generalized, type 3
NM_001753.4(CAV1):c.424C>T (p.Gln142Ter)	857	CAV1	Pathogenic	797045176	RCV000191043;	N	MedGen:C2675861,OMIM:612526	7	116199228	116199228	NM_001753.4:c.424C>T	NP_001744.2:p.Gln142Ter	NC_000007.13:g.116199228C>T	-	C2675861 612526 Lipodystrophy, congenital generalized, type 3
NM_001753.4(CAV1):c.479_480delTT (p.Phe160Terfs)	857	CAV1	Pathogenic	797044871	RCV000191044; RCV000190679;	N	MedGen:C0950123; MedGen:C2675861,OMIM:612526; MedGen:C3809192,OMIM:615343	7	116199283	116199284	NM_001753.4:c.479_480delTT	NP_001744.2:p.Phe160Terfs	NC_000007.13:g.116199283_116199284delTT	-	C0950123 Inborn genetic diseases; C2675861 612526 Lipodystrophy, congenital generalized, type 3; C3809192 615343 Primary pulmonary hypertension 3