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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
45 signs/symptoms
46,XY partial gonadal dysgenesis
Berardinelli-Seip congenital lipodystrophy

GATA4 AGPAT2
MAP3K1 BSCL2
NR0B1 CAV1
NR5A1 FOS
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
(0.52)
FOS



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Berardinelli-Seip congenital lipodystrophy
AGPAT2 BSCL2 CAV1 FOS



46,XY partial gonadal dysgenesis
Berardinelli-Seip congenital lipodystrophy

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- BSCL
- Beradinelli-Seip syndrome
- Brunzell syndrome
- GCL
- Generalized congenital lipodystrophy
- Lipoatrophic diabetes

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 developmental defect during embryogenesis
- 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references

46,XY partial gonadal dysgenesis
Berardinelli-Seip congenital lipodystrophy

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
- Acanthosis nigricans
- Advanced bone age
- Autosomal recessive inheritance
- Broad foot
- Diabetes mellitus
- Foot anomalies
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperinsulinism / hyperinsulinemia
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Large hand
- Lipoatrophy
- Muscle hypertrophy
- Prognathism / prognathia
- Prominent supraorbital ridge
- Storage liver disease
- Thick skin / pachydermia / orange skin

Frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Acromegaly
- Bone cyst
- Cardiomyopathy / hypertrophic / dilated
- Hair and scalp anomalies
- Hepatocellular liver disease / hepatic failure
- Hirsutism / hypertrichosis / Increased body hair
- Hyperhidrosis / increased sweating
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Precocious puberty

Occasional
- Abnormal / polycystic ovaries
- Angor pectoris / myocardial infarction
- Anomalies of tongue, gingiva and oral mucosa
- Arterial stenosis / occlusion
- Cirrhosis
- Dilated cerebral ventricles without hydrocephaly
- Early death / lethality
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Liver / hepatic steatosis
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Mutiple fractures / bone fragility
- Pancreatitis
- Peripheral neuropathy
- Pulmonary hypertension
- Renal disease / nephropathy
- Renal failure
- Renal glomerular defect / glomerulopathy