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Action myoclonus - renal failure syndrome
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Gaucher disease type 1
Unverricht-Lundborg disease
Autosomal recessive distal renal tubular acidosis with deafness
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Amyotrophic lateral sclerosis
Autosomal dominant spastic paraplegia type 13
Extraskeletal myxoid chondrosarcoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Translocation renal cell carcinoma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SCARB2 Q14108602257
No signs/symptoms info available.