HDCPH1
MCID: HYD042
MIFTS: 18

Hydrocephalus, Autosomal Dominant (HDCPH1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hydrocephalus, Autosomal Dominant

MalaCards integrated aliases for Hydrocephalus, Autosomal Dominant:

Name: Hydrocephalus, Autosomal Dominant 57 13 72
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome 59
Braddock-Jones-Superneau Syndrome 59
Hdcph1 57

Characteristics:

Orphanet epidemiological data:

59
craniosynostosis-dandy-walker malformation-hydrocephalus syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hydrocephalus, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 123155
Orphanet 59 ORPHA1538
MedGen 42 C1838347
UMLS 72 C1838347

Summaries for Hydrocephalus, Autosomal Dominant

MalaCards based summary : Hydrocephalus, Autosomal Dominant, also known as craniosynostosis-dandy-walker malformation-hydrocephalus syndrome, is related to braddock jones superneau syndrome and dandy-walker malformation with sagittal craniosynostosis and hydrocephalus. Affiliated tissues include bone, and related phenotypes are hypertelorism and frontal bossing

More information from OMIM: 123155

Related Diseases for Hydrocephalus, Autosomal Dominant

Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Congenital, 1
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Congenital Hydrocephalus
Hydrocephalus Autosomal Recessive

Diseases related to Hydrocephalus, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 braddock jones superneau syndrome 12.8
2 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 11.8

Symptoms & Phenotypes for Hydrocephalus, Autosomal Dominant

Human phenotypes related to Hydrocephalus, Autosomal Dominant:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
4 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
5 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
7 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
8 dandy-walker malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001305
9 orbital craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005472
10 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
11 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
12 posterior fossa cyst 32 HP:0007291
13 sagittal craniosynostosis 32 HP:0004442

Symptoms via clinical synopsis from OMIM:

57
Neuro:
hydrocephalus
cerebellar vermis hypoplasia
posterior fossa cyst

Skull:
sagittal craniosynostosis

Clinical features from OMIM:

123155

Drugs & Therapeutics for Hydrocephalus, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Hydrocephalus, Autosomal Dominant

Genetic Tests for Hydrocephalus, Autosomal Dominant

Anatomical Context for Hydrocephalus, Autosomal Dominant

MalaCards organs/tissues related to Hydrocephalus, Autosomal Dominant:

41
Bone

Publications for Hydrocephalus, Autosomal Dominant

Articles related to Hydrocephalus, Autosomal Dominant:

# Title Authors PMID Year
1
Familial hydrocephalus with normal cognition and distinctive radiological features. 8
20979187 2010
2
A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. 8
7849713 1994
3
Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome. 8
8266990 1993

Variations for Hydrocephalus, Autosomal Dominant

Expression for Hydrocephalus, Autosomal Dominant

Search GEO for disease gene expression data for Hydrocephalus, Autosomal Dominant.

Pathways for Hydrocephalus, Autosomal Dominant

GO Terms for Hydrocephalus, Autosomal Dominant

Sources for Hydrocephalus, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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