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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
18 signs/symptoms
46,XY complete gonadal dysgenesis
Miller-Dieker syndrome

CBX2 HIC1
DHH PAFAH1B1
DMRT1 YWHAE
DMRT2
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
(0.89)
YWHAE



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Miller-Dieker syndrome
HIC1 PAFAH1B1 YWHAE



46,XY complete gonadal dysgenesis
Miller-Dieker syndrome

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

Synonym(s):
- Lissencephaly due to 17p13.3 deletion
- Monosomy 17p13.3
- Telomeric deletion 17p

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

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: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D054221

46,XY complete gonadal dysgenesis
Miller-Dieker 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
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of mouth, lip and philtrum
- Anteverted nares / nostrils
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose

Frequent
- Polyhydramnios
- Structural anomalies of the cardio-circulatory system

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Omphalocele / exomphalos
- Renal disease / nephropathy
- Sacral sinus / dimple