Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAtaxia (D001259)
Parent Node:
expandLipidoses (D008064)
Parent Node:
expandTremor (D014202)
..Starting node
..expandTremor of Intention, Ataxia, and Lipofuscinosis (C566038)

       Child Nodes:



 Sister Nodes: 
..expandFragile X Tremor Ataxia Syndrome (C564105)
..expandGeniospasm (C537682)
..expandMENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..expandPrimary orthostatic tremor (C536418)
..expandTremor hereditary essential, 2 (C536546)
..expandTremor of Intention, Ataxia, and Lipofuscinosis (C566038)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11219
Name:Tremor of Intention, Ataxia, and Lipofuscinosis
Definition:
Alternative IDs:
ParentIDs:MESH:D001259|MESH:D008064|MESH:D014202
TreeNumbers:C10.597.350.090/C566038 |C10.597.350.850/C566038 |C16.320.565.398.641/C566038 |C18.452.584.687/C566038 |C18.452.648.398.641/C566038 |C23.888.592.350.090/C566038 |C23.888.592.350.850/C566038
Synonyms:
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C566038
MeSH: C566038
OMIM: 190200;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0001251Ataxia
4 HP:0002080Intention tremor
5 HP:0002216Premature graying of hair
Disease Causing ClinVar Variants