General Information of Disease (ID: DIS7UYZJ)

Disease Name Lichtenstein-Knorr syndrome
Synonyms
LIKNS; autosomal recessive spinocerebellar ataxia 19; progressive autosomal recessive ataxia-deafness syndrome; spinocerebellar ataxia, autosomal recessive 19; autosomal recessive spinocerebellar ataxia type 19; Lichtenstein-Knorr syndrome; progressive autosomal recessive ataxia-sensorineural hearing loss syndrome; SCAR19
Disease Hierarchy
DISWBOUC: Autosomal recessive cerebellar ataxia
DIS7UYZJ: Lichtenstein-Knorr syndrome
Disease Identifiers
MONDO ID
MONDO_0014572
UMLS CUI
C4225383
OMIM ID
616291
MedGen ID
898996
Orphanet ID
448251
SNOMED CT ID
1237413006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC9A1 DTG5H76 Strong Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC9A1 OT6HNHFV Strong Autosomal recessive [1]
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References

1 Targeted disruption of the murine Nhe1 locus induces ataxia, growth retardation, and seizures. Am J Physiol. 1999 Apr;276(4):C788-95. doi: 10.1152/ajpcell.1999.276.4.C788.