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8 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Fuchs endothelial corneal dystrophy
Partial androgen insensitivity syndrome

AGBL1 AR
COL8A2
SLC4A11
TCF4
ZEB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCF4
(0.88)
AR



Citations in the biomedical literature:


Fuchs endothelial corneal dystrophy
AGBL1 COL8A2 SLC4A11 TCF4 ZEB1
Partial androgen insensitivity syndrome
AR



Fuchs endothelial corneal dystrophy
Partial androgen insensitivity syndrome

Synonym(s):
- Endoepithelial corneal dystrophy
- FECD
- Late hereditary endothelial dystrophy

Synonym(s):
- PAIS
- Partial androgen resistance syndrome

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive

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

Partial androgen insensitivity syndrome

Very frequent
- Bifid scrotum
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)

Occasional
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets


Fuchs endothelial corneal dystrophy

(no data available)