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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
37 signs/symptoms
46,XY complete gonadal dysgenesis
8p23.1 microdeletion syndrome

CBX2 GATA4
DHH
DMRT1
DMRT2
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NR5A1
(0.76)
GATA4



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
8p23.1 microdeletion syndrome
GATA4



46,XY complete gonadal dysgenesis
8p23.1 microdeletion syndrome

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

Synonym(s):
- Del(8)(p23.1)
- Monosomy 8p23.1

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 urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

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

46,XY complete gonadal dysgenesis
8p23.1 microdeletion syndrome

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



Very frequent
- Autosomal dominant inheritance
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation

Frequent
- Atrioventricular canal
- Broad nose / nasal bridge
- Cardiac septal defect
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- High vaulted / narrow palate
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypospadias / epispadias / bent penis
- Microcephaly
- Narrow forehead
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short neck
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Cardiomyopathy / hypertrophic / dilated
- Deepset eyes / enophthalmos
- Diaphragmatic hernia / defect / agenesis
- Generalized obesity
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic left heart / ventricle
- Patent ductus arteriosus
- Proximally set thumb
- Tetralogy of Fallot / trilogy of Fallot
- Transposition of great vessels