MCID: HYD049
MIFTS: 17

Hydrocephalus with Cerebellar Agenesis

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hydrocephalus with Cerebellar Agenesis

MalaCards integrated aliases for Hydrocephalus with Cerebellar Agenesis:

Name: Hydrocephalus with Cerebellar Agenesis 56 52
Hydrocephaly-Cerebellar Agenesis Syndrome 58
Cerebellum Agenesis Hydrocephaly 52

Characteristics:

Orphanet epidemiological data:

58
hydrocephaly-cerebellar agenesis syndrome
Inheritance: X-linked recessive; Age of onset: Infancy;

OMIM:

56
Inheritance:
x-linked


HPO:

31
hydrocephalus with cerebellar agenesis:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM 56 307010
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C1844005
Orphanet 58 ORPHA1397
MedGen 41 C1844005

Summaries for Hydrocephalus with Cerebellar Agenesis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1397 Definition A rare developmental defect during embryogenesis malformation syndrome characterized by congenital , non-communicating hydrocephalus , cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia , areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hydrocephalus with Cerebellar Agenesis, is also known as hydrocephaly-cerebellar agenesis syndrome. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are cataract and intellectual disability

More information from OMIM: 307010

Related Diseases for Hydrocephalus with Cerebellar Agenesis

Symptoms & Phenotypes for Hydrocephalus with Cerebellar Agenesis

Human phenotypes related to Hydrocephalus with Cerebellar Agenesis:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 cerebellar agenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012642
6 hydrocephalus 31 HP:0000238

Symptoms via clinical synopsis from OMIM:

56
Neuro:
cerebellar agenesis
hydrocephaly
absent foramina of luschka and magendie

Clinical features from OMIM:

307010

Drugs & Therapeutics for Hydrocephalus with Cerebellar Agenesis

Search Clinical Trials , NIH Clinical Center for Hydrocephalus with Cerebellar Agenesis

Genetic Tests for Hydrocephalus with Cerebellar Agenesis

Anatomical Context for Hydrocephalus with Cerebellar Agenesis

MalaCards organs/tissues related to Hydrocephalus with Cerebellar Agenesis:

40
Cerebellum, Brain, Eye

Publications for Hydrocephalus with Cerebellar Agenesis

Articles related to Hydrocephalus with Cerebellar Agenesis:

# Title Authors PMID Year
1
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. 56
1785627 1991
2
Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle. 56
6846731 1983
3
Congenital hydrocephalus and cerebellar agenesis. 56
657584 1978

Variations for Hydrocephalus with Cerebellar Agenesis

Expression for Hydrocephalus with Cerebellar Agenesis

Search GEO for disease gene expression data for Hydrocephalus with Cerebellar Agenesis.

Pathways for Hydrocephalus with Cerebellar Agenesis

GO Terms for Hydrocephalus with Cerebellar Agenesis

Sources for Hydrocephalus with Cerebellar Agenesis

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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