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 58 74
Etinph 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
tremor, hereditary essential, and idiopathic normal pressure hydrocephalus:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 611808
MedGen 43 C2678494
UMLS 74 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, normal-pressure and hydrocephalus. Related phenotypes are macrocephaly and gait disturbance

Description 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, normal-pressure 10.1
2 hydrocephalus 10.1
3 essential tremor 10.1
4 tremor 10.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 gait disturbance 33 HP:0001288
3 ventriculomegaly 33 HP:0002119
4 normal pressure hydrocephalus 33 HP:0002343
5 kinetic tremor 33 HP:0030186

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
normal pressure hydrocephalus
enlarged ventricles
impaired gait
essential tremor

Head And Neck Head:
increased head circumference

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

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
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
Content
Loading form....