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

CBX2 PTCH1
DHH
DMRT1
DMRT2
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DHH
(0.52)
PTCH1



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Gorlin syndrome
PTCH1



46,XY complete gonadal dysgenesis
Gorlin syndrome

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

Synonym(s):
- Basal cell nevus syndrome
- NBCCS
- Nevoid basal cell carcinoma 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 eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin 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: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Late puberty / hypogonadism / hypogenitalism


46,XY complete gonadal dysgenesis
Gorlin syndrome

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



Very frequent
- Autosomal dominant inheritance
- Dermoid sinus / dimple / pit (excluding sacral)
- Intracranial / cerebral calcifications
- Neoplasms / tumors
- Pigmented naevi / naevus pigmentosus / lentigo

Frequent
- Abnormal vertebral size / shape
- Anomalies of the neck
- Broad nasal root
- Scoliosis
- Short hand / brachydactyly

Occasional
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Brachycephaly / flat occiput
- Cataract / lens opacification
- Coloboma of iris
- Epicanthic folds
- Frontal bossing / prominent forehead
- Glaucoma
- Hydrocephaly
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long hand / arachnodactyly
- Multiple caries
- Prognathism / prognathia
- Strabismus / squint
- Telecanthus / canthal dystopy
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vertebral segmentation anomaly / hemivertebrae