MCID: ISL120
MIFTS: 15

Isolated Cerebellar Agenesis

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Cerebellar Agenesis

MalaCards integrated aliases for Isolated Cerebellar Agenesis:

Name: Isolated Cerebellar Agenesis 58
Near Total Absence of Cerebellum 58
Subtotal Absence of Cerebellum 58

Characteristics:

Orphanet epidemiological data:

58
isolated cerebellar agenesis
Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C0266470 C0344488
Orphanet 58 ORPHA1398

Summaries for Isolated Cerebellar Agenesis

MalaCards based summary : Isolated Cerebellar Agenesis, is also known as near total absence of cerebellum. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are abnormality of eye movement and ataxia

Related Diseases for Isolated Cerebellar Agenesis

Symptoms & Phenotypes for Isolated Cerebellar Agenesis

Human phenotypes related to Isolated Cerebellar Agenesis:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0000496
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
5 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
6 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
7 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
8 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
9 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
10 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022

Drugs & Therapeutics for Isolated Cerebellar Agenesis

Search Clinical Trials , NIH Clinical Center for Isolated Cerebellar Agenesis

Genetic Tests for Isolated Cerebellar Agenesis

Anatomical Context for Isolated Cerebellar Agenesis

MalaCards organs/tissues related to Isolated Cerebellar Agenesis:

40
Cerebellum, Brain, Eye

Publications for Isolated Cerebellar Agenesis

Articles related to Isolated Cerebellar Agenesis:

# Title Authors PMID Year
1
Cerebellar agenesis and diabetes insipidus. 61
15627945 2004
2
MRI findings in a neonate with cerebellar agenesis. 61
9744635 1998

Variations for Isolated Cerebellar Agenesis

Expression for Isolated Cerebellar Agenesis

Search GEO for disease gene expression data for Isolated Cerebellar Agenesis.

Pathways for Isolated Cerebellar Agenesis

GO Terms for Isolated Cerebellar Agenesis

Sources for Isolated 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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