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2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Partial androgen insensitivity syndrome

AGK AR
SLC25A4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC25A4
(0.77)
AR



Citations in the biomedical literature:


Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
AGK SLC25A4
Partial androgen insensitivity syndrome
AR



Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Partial androgen insensitivity syndrome

Synonym(s):
- Sengers syndrome

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

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- 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):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive

External references:
2 OMIM references -
1 MeSH reference: C538280
External references:
1 OMIM reference -
No MeSH references

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Partial androgen insensitivity syndrome

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Myopathy
- Nystagmus
- Organic acid metabolism anomalies
- Strabismus / squint

Frequent
- Myopia
- Stillbirth / neonatal death

Occasional
- Abnormal ERG / electroretinogram / electroretinography
- Corneal dystrophy
- Glaucoma


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