Cytoscape Web
Click node...

46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial partial lipodystrophy, Köbberling type
1 OMIM reference -
1 associated gene
15 signs/symptoms
46,XY partial gonadal dysgenesis
Familial partial lipodystrophy, Köbberling type

GATA4
(UniProt - OMIM)
 LMNA
(UniProt - OMIM)
MAP3K1
(UniProt - OMIM)
NR0B1
(UniProt - OMIM)
NR5A1
(UniProt - OMIM)
SRY
(UniProt - OMIM)
WT1
(UniProt - OMIM)
WWOX
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
WWOX
(0.49)
LMNA


Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Familial partial lipodystrophy, Köbberling type
LMNA



46,XY partial gonadal dysgenesis
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Synonym(s):
- FPLD1
- Familial partial lipodystrophy type 1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- 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: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
46,XY partial gonadal dysgenesis
Familial partial lipodystrophy, Köbberling type

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Diabetes mellitus
- Hyperinsulinism / hyperinsulinemia
- Insulin resistance
- Insulin-dependent / type 1 diabetes
- Lipoatrophy

Frequent
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Hepatomegaly / liver enlargement (excluding storage disease)
- Liver / hepatic steatosis
- Xanthomas / lipomas

Occasional
- Angor pectoris / myocardial infarction
- Pancreatitis