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46,XY complete gonadal dysgenesis
7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 2
Kennedy disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
46,XY complete gonadal dysgenesis
Kennedy disease

CBX2
(UniProt - OMIM)
 AR
(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)
SRY
NR0B1
NR5A1
(0.87)
(0.85)
(0.52)
AR
AR
AR


Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Kennedy disease
AR



46,XY complete gonadal dysgenesis
Kennedy disease

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome
Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
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 genetic disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance

46,XY complete gonadal dysgenesis
Kennedy disease

Very frequent
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation



Very frequent
- Abnormal gait
- Areflexia / hyporeflexia
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypotonia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes