ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
4 associated genes
15 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Hereditary sensory and autonomic neuropathy type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	WNK1

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Hereditary sensory and autonomic neuropathy type 2
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - Autosomal recessive sensory radicular neuropathy - HSAN2 - Neurogenic acroosteolysis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: (no data available)		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: No OMIM references No MeSH references		External references: 3 OMIM references - No MeSH references

Hereditary sensory and autonomic neuropathy type 2
	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 - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Tapered fingers - Wormian bones
Distal 17p13.3 microdeletion syndrome
(no data available)