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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
32 signs/symptoms
46,XY complete gonadal dysgenesis
Perlman syndrome

CBX2 DIS3L2
DHH
DMRT1
DMRT2
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBX2
(0.72)
DIS3L2



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Perlman syndrome
DIS3L2



46,XY complete gonadal dysgenesis
Perlman syndrome

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

Synonym(s):
- Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor

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 oncologic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

46,XY complete gonadal dysgenesis
Perlman 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 recessive inheritance
- Broad nasal root
- Deepset eyes / enophthalmos
- Hepatomegaly / liver enlargement (excluding storage disease)
- High forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mouth held open
- Philtrum flat / large / featureless / absent cupidon bows
- Round face
- Short / small nose
- Tall stature / gigantism / growth acceleration

Frequent
- Anteverted nares / nostrils
- Broad alveolar ridge
- Epicanthic folds
- Helix thickened / sculpted
- High vaulted / narrow palate
- Hyperinsulinism / hyperinsulinemia
- Low set ears / posteriorly rotated ears
- Micropenis / small penis / agenesis
- Nephroblastoma / Wilms tumor
- Polyhydramnios
- Structural anomalies of the pancreas
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Dolichocephaly / scaphocephaly
- Inguinal / inguinoscrotal / crural hernia
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Simian crease / transverse / unique palmar crease