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 56 13 71
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome 58
Braddock-Jones-Superneau Syndrome 58
Hdcph1 56

Characteristics:

Orphanet epidemiological data:

58
craniosynostosis-dandy-walker malformation-hydrocephalus syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hydrocephalus, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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. 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 12.9

Symptoms & Phenotypes for Hydrocephalus, Autosomal Dominant

Human phenotypes related to Hydrocephalus, Autosomal Dominant:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
6 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
7 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
8 dandy-walker malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001305
9 orbital craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005472
10 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
11 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
12 posterior fossa cyst 31 HP:0007291
13 sagittal craniosynostosis 31 HP:0004442

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hydrocephalus
ventriculomegaly
cerebellar vermis hypoplasia
posterior fossa cyst
headaches, recurrent

Skeletal 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:

40
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. 56
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. 56
7849713 1994
3
Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome. 56
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 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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