ODCs

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3 OMIM references -
4 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Hereditary sensory and autonomic neuropathy type 2

Partial androgen insensitivity syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIF1A	(0.73)	AR

Citations in the biomedical literature:

Hereditary sensory and autonomic neuropathy type 2		Partial androgen insensitivity syndrome
	Synonym(s): - Autosomal recessive sensory radicular neuropathy - HSAN2 - Neurogenic acroosteolysis		Synonym(s): - PAIS - Partial androgen resistance syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic 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 nervous system -		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: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Hereditary sensory and autonomic neuropathy type 2		Partial androgen insensitivity syndrome
	Very frequent - Ankle anomalies - Autosomal recessive inheritance - Cortical anomaly / thick bone cortical layer - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperhidrosis / increased sweating - Knee anomalies (excluding patella) - Lordosis - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Osteolysis / osteoclasia / bone destruction / erosions - Tapered fingers - Wormian bones		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