MCID: TRM023
MIFTS: 8

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 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
tremor of intention, ataxia, and lipofuscinosis:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 190200
MedGen 41 C1860872

Summaries for Tremor of Intention, Ataxia, and Lipofuscinosis

MalaCards based summary : Tremor of Intention, Ataxia, and Lipofuscinosis Affiliated tissues include liver, and related phenotypes are ataxia and abnormality of metabolism/homeostasis

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 intention tremor 31 HP:0002080
4 premature graying of hair 31 HP:0002216

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Tremor of Intention, Ataxia, and Lipofuscinosis:

40
Liver

Publications for Tremor of Intention, Ataxia, and Lipofuscinosis

Articles related to Tremor of Intention, Ataxia, and Lipofuscinosis:

# Title Authors PMID Year
1
Familial intention tremor, ataxia, and lipofuscinosis. Liver biopsy studies. 56
5815223 1969

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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