Cytoscape Web
Click node...


7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
46,XY complete gonadal dysgenesis
X-linked Charcot-Marie-Tooth disease type 4

CBX2 AIFM1
DHH
DMRT1
DMRT2
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
(0.72)
AIFM1



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
X-linked Charcot-Marie-Tooth disease type 4
AIFM1



46,XY complete gonadal dysgenesis
X-linked Charcot-Marie-Tooth disease type 4

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome

Synonym(s):
- CMT4X
- CMTX4
- Cowchock syndrome

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 developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive

External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- X-linked recessive inheritance


46,XY complete gonadal dysgenesis
X-linked Charcot-Marie-Tooth disease type 4

Very frequent
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia



Very frequent
- Areflexia / hyporeflexia
- Flat palm
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Nerve conduction abnormality
- Peripheral neuropathy
- Pes cavus
- Sensitive trouble / deficit

Frequent
- Hearing loss / hypoacusia / deafness
- Insensitivity to pain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Motor deficit / trouble
- Scoliosis

Occasional
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Elocution disorders / dysarthria / dysphonia
- Somnolence / hypersomnia / parasomnia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tremor