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Summary
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (SCAN3)
618387
OMIM = Online Medalian Inheritance of Men
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1p32.3
very rare
autosomal recessive
mutation in the COA7 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
dysarthria
hyporeflexia
intellectual disability/intellectual developmental disorder (ID/ IDD)
leukoencephalopathy
muscle atrophy
muscle weakness
onset, adolescent
onset, childhood
peripheral neuropathy
tremor or twitching
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/lcerebrospinal fluid
Creatine kinase U/lserum
MRI, brain, abnormalities -
Literature
ODonnell BM,et al.Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndromeJ Biol Chem2923112813-8272017
Han Y,Wang F, Wang YGGene analysis in a family with adult onset Bartter syndrome type 2Zhonghua Nei Ke Za Zhi569679-6802017
Huang L,et al.Nephrocalcinosis as adult presentation of Bartter syndrome type IINeth J Med72291-932014