ETINPH
MCID: TRM025
MIFTS: 12

Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus (ETINPH)

Aliases & Classifications for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

MalaCards integrated aliases for Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus:

Name: Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus 56 71
Etinph 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset of essential tremor between 16 and 44 years
onset of normal pressure hydrocephalus after age 65 years


HPO:

31
tremor, hereditary essential, and idiopathic normal pressure hydrocephalus:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 611808
MedGen 41 C2678494
UMLS 71 C2678494

Summaries for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

MalaCards based summary : Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus, also known as etinph, is related to hydrocephalus and normal pressure hydrocephalus. Related phenotypes are macrocephaly and gait disturbance

More information from OMIM: 611808

Related Diseases for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Diseases related to Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydrocephalus 10.3
2 normal pressure hydrocephalus 10.3
3 essential tremor 10.3
4 tremor 10.3

Symptoms & Phenotypes for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Human phenotypes related to Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus:

31
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 gait disturbance 31 HP:0001288
3 ventriculomegaly 31 HP:0002119
4 normal pressure hydrocephalus 31 HP:0002343
5 kinetic tremor 31 HP:0030186

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
increased head circumference

Neurologic Central Nervous System:
normal pressure hydrocephalus
enlarged ventricles
impaired gait
essential tremor

Clinical features from OMIM:

611808

Drugs & Therapeutics for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Search Clinical Trials , NIH Clinical Center for Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus

Genetic Tests for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Anatomical Context for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Publications for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Articles related to Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus:

# Title Authors PMID Year
1
Heritable essential tremor-idiopathic normal pressure hydrocephalus (ETINPH). 61 56
18203159 2008
2
Genome-wide linkage scan maps ETINPH gene to chromosome 19q12-13.31. 61
20357477 2010

Variations for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Expression for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Search GEO for disease gene expression data for Tremor, Hereditary Essential, and Idiopathic Normal Pressure Hydrocephalus.

Pathways for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

GO Terms for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

Sources for Tremor, Hereditary Essential, and Idiopathic Normal Pressure...

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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