ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

Spinocerebellar ataxia with axonal neuropathy type 2

Ehlers-Danlos syndrome, dermatosparaxis type

PIK3R5	(UniProt - OMIM)		ADAMTS2	(UniProt - OMIM)
SETX	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3R5	(0.63)	ADAMTS2

Citations in the biomedical literature:

Spinocerebellar ataxia with axonal neuropathy type 2		Ehlers-Danlos syndrome, dermatosparaxis type
	Synonym(s): - AOA2 - Ataxia - oculomotor apraxia type 2 - SCAN 2 - SCAR1		Synonym(s): - EDS VIIC - Ehlers-Danlos syndrome type 7C

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Ehlers-Danlos syndrome, dermatosparaxis type
	Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Anomalies of skin, subcutaneous tissue and mucosae - Autosomal recessive inheritance - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Herniae - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Hypotonia - Joint dislocation / subluxation - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Restricted joint mobility / joint stiffness / ankylosis - Rippled skin - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin skin - Umbilical hernia Frequent - Depressed nasal bridge - Epicanthic folds - Hypertelorism - Inguinal / inguinoscrotal / crural hernia - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis
Spinocerebellar ataxia with axonal neuropathy type 2
(no data available)