MCID: TRM023
MIFTS: 7

Tremor of Intention, Ataxia, and Lipofuscinosis

Aliases & Classifications for Tremor of Intention, Ataxia, and Lipofuscinosis

MalaCards integrated aliases for Tremor of Intention, Ataxia, and Lipofuscinosis:

Name: Tremor of Intention, Ataxia, and Lipofuscinosis 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
tremor of intention, ataxia, and lipofuscinosis:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 190200
MedGen 43 C1860872

Summaries for Tremor of Intention, Ataxia, and Lipofuscinosis

MalaCards based summary : Tremor of Intention, Ataxia, and Lipofuscinosis Related phenotypes are ataxia and abnormality of metabolism/homeostasis

Description from OMIM: 190200

Related Diseases for Tremor of Intention, Ataxia, and Lipofuscinosis

Symptoms & Phenotypes for Tremor of Intention, Ataxia, and Lipofuscinosis

Human phenotypes related to Tremor of Intention, Ataxia, and Lipofuscinosis:

33
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 intention tremor 33 HP:0002080
4 premature graying of hair 33 HP:0002216

Symptoms via clinical synopsis from OMIM:

58
Neuro:
ataxia
intention tremor

Lab:
intracytoplasmic lipofuscin granules in inferior olivary nuclei and hepatocytes

Hair:
premature graying

Clinical features from OMIM:

190200

Drugs & Therapeutics for Tremor of Intention, Ataxia, and Lipofuscinosis

Search Clinical Trials , NIH Clinical Center for Tremor of Intention, Ataxia, and Lipofuscinosis

Genetic Tests for Tremor of Intention, Ataxia, and Lipofuscinosis

Anatomical Context for Tremor of Intention, Ataxia, and Lipofuscinosis

Publications for Tremor of Intention, Ataxia, and Lipofuscinosis

Variations for Tremor of Intention, Ataxia, and Lipofuscinosis

Expression for Tremor of Intention, Ataxia, and Lipofuscinosis

Search GEO for disease gene expression data for Tremor of Intention, Ataxia, and Lipofuscinosis.

Pathways for Tremor of Intention, Ataxia, and Lipofuscinosis

GO Terms for Tremor of Intention, Ataxia, and Lipofuscinosis

Sources for Tremor of Intention, Ataxia, and Lipofuscinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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