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46,XY complete gonadal dysgenesis
7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Familial partial lipodystrophy associated with PPARG mutations
1 OMIM reference -
1 associated gene
15 signs/symptoms
46,XY complete gonadal dysgenesis
Familial partial lipodystrophy associated with PPARG mutations

CBX2
(UniProt - OMIM)
 PPARG
(UniProt - OMIM)
DHH
(UniProt - OMIM)
DMRT1
(UniProt - OMIM)
DMRT2
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NR0B1
(0.63)
PPARG


Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Familial partial lipodystrophy associated with PPARG mutations
PPARG



46,XY complete gonadal dysgenesis
Familial partial lipodystrophy associated with PPARG mutations

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome
Synonym(s):
- FPLD3
- Familial partial lipodystrophy type 3
Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- Rare urogenital disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Abnormal / polycystic ovaries

46,XY complete gonadal dysgenesis
Familial partial lipodystrophy associated with PPARG mutations

Very frequent
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance



Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Diabetes mellitus
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea

Frequent
- Acanthosis nigricans
- Hyperuricemia
- Liver / hepatic steatosis

Occasional
- Angor pectoris / myocardial infarction
- Cirrhosis
- Hirsutism / hypertrichosis / Increased body hair
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia