MCID: CRB108
MIFTS: 42

Cerebral Palsy, Ataxic, Autosomal Recessive

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Cerebral Palsy, Ataxic, Autosomal Recessive

MalaCards integrated aliases for Cerebral Palsy, Ataxic, Autosomal Recessive:

Name: Cerebral Palsy, Ataxic, Autosomal Recessive 57 13
Ataxic Cerebral Palsy 57 12 53 15 73
Hypotonic Cerebral Palsy 12
Cerebral Palsy, Atonic 73
Cerebral Palsy Ataxic 53
Acp 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
cerebral palsy, ataxic, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 605388
Disease Ontology 12 DOID:0050670
MedGen 42 C0394005
ICD10 33 G80.4

Summaries for Cerebral Palsy, Ataxic, Autosomal Recessive

OMIM : 57 Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). It is a common disorder of childhood, with an incidence of 1 in 250 to 1,000 births (Pharoah et al., 1987; Bundey and Alam, 1993). Ataxic cerebral palsy accounts for 5 to 10% of all forms of CP, and approximately 50% of ataxic CP is thought to be inherited as an autosomal recessive trait (McHale et al., 2000). Also see spastic cerebral palsy (603513). (605388)

MalaCards based summary : Cerebral Palsy, Ataxic, Autosomal Recessive, also known as ataxic cerebral palsy, is related to carpenter syndrome 1 and cerebral palsy, and has symptoms including ataxia and dysdiadochokinesis. An important gene associated with Cerebral Palsy, Ataxic, Autosomal Recessive is CPAT1 (Cerebral Palsy, Ataxic 1), and among its related pathways/superpathways are Abacavir transport and metabolism and Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include brain, cerebellum and bone, and related phenotypes are horizontal nystagmus and dysarthria

Disease Ontology : 12 A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.

Wikipedia : 76 Ataxic cerebral palsy is clinically observed in approximately 5-10% of all cases of cerebral palsy,... more...

Related Diseases for Cerebral Palsy, Ataxic, Autosomal Recessive

Diseases related to Cerebral Palsy, Ataxic, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 carpenter syndrome 1 11.5
2 cerebral palsy 11.5
3 cerebral palsy athetoid 11.1
4 acrocephalopolysyndactyly type iii 11.1
5 acrocephalopolysyndactyly type iv 11.0
6 sakati syndrome 11.0
7 spinocerebellar ataxia 15 10.2 ITPR1 KCNC3 SPTBN2
8 autosomal dominant cerebellar ataxia 10.1 ITPR1 KCNC3 SPTBN2
9 melioidosis 10.0
10 ischemic heart disease 10.0
11 heart disease 10.0
12 cerebellar disease 9.9 ITPR1 SPTBN2
13 enamel erosion 9.9
14 peripheral vascular disease 9.9
15 vascular disease 9.9
16 arteries, anomalies of 9.8
17 multiple sclerosis 9.8
18 hepatitis 9.8
19 respiratory failure 9.8
20 diarrhea 9.8
21 relapsing-remitting multiple sclerosis 9.8
22 cervicitis 9.8
23 radiculopathy 9.8
24 back pain 9.8
25 gastroesophageal reflux 9.7
26 thrombophilia due to thrombin defect 9.7
27 thrombosis 9.7
28 carotid stenosis 9.7
29 gout 9.7
30 hepatic encephalopathy 9.7
31 patent foramen ovale 9.7
32 vaginitis 9.7
33 cervix uteri carcinoma in situ 9.7
34 cervical intraepithelial neoplasia 9.7
35 nonalcoholic steatohepatitis 9.7
36 aneurysm 9.7
37 encephalopathy 9.7
38 chromosome 3q29 deletion syndrome 9.7 IGF2R SLC22A2 SLC22A3
39 aortic aneurysm, familial abdominal, 1 9.6
40 alcohol dependence 9.6
41 apnea, obstructive sleep 9.6
42 pulmonary fibrosis, idiopathic 9.6
43 schizophrenia 9.6
44 langerhans cell histiocytosis 9.6
45 myocardial infarction 9.6
46 tendinopathy 9.6
47 alcoholic hepatitis 9.6
48 amelogenesis imperfecta 9.6
49 coronary artery anomaly 9.6
50 crohn's disease 9.6

Graphical network of the top 20 diseases related to Cerebral Palsy, Ataxic, Autosomal Recessive:



Diseases related to Cerebral Palsy, Ataxic, Autosomal Recessive

Symptoms & Phenotypes for Cerebral Palsy, Ataxic, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
horizontal nystagmus

Neurologic Central Nervous System:
ataxia
delayed motor development
dysarthria
dysdiadochokinesis
broad-based gait
more

Clinical features from OMIM:

605388

Human phenotypes related to Cerebral Palsy, Ataxic, Autosomal Recessive:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 horizontal nystagmus 32 HP:0000666
2 dysarthria 32 HP:0001260
3 motor delay 32 HP:0001270
4 cerebellar atrophy 32 HP:0001272
5 dysdiadochokinesis 32 HP:0002075
6 broad-based gait 32 HP:0002136
7 cerebral palsy 32 HP:0100021

UMLS symptoms related to Cerebral Palsy, Ataxic, Autosomal Recessive:


ataxia, dysdiadochokinesis

MGI Mouse Phenotypes related to Cerebral Palsy, Ataxic, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 MCOLN1 NKX2-1 SLC22A3 SPTBN2 UBE3A VLDLR
2 growth/size/body region MP:0005378 10 CTBP1 GFAP IGF2R ITPR1 KCNC3 MCOLN1
3 homeostasis/metabolism MP:0005376 9.9 GFAP IGF2R ITPR1 KCNC3 MCOLN1 NKX2-1
4 cardiovascular system MP:0005385 9.87 CTBP1 SLC22A3 VLDLR GFAP IGF2R MCOLN1
5 mortality/aging MP:0010768 9.7 ADNP CTBP1 GFAP IGF2R ITPR1 KCNC3
6 nervous system MP:0003631 9.4 ADNP CTBP1 GFAP IGF2R ITPR1 KCNC3

Drugs & Therapeutics for Cerebral Palsy, Ataxic, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Bone Marrow Derived Autologous Cells Treatment of Cerebral Palsy in Subjects Above 15 Years Unknown status NCT01834664 Phase 1, Phase 2

Search NIH Clinical Center for Cerebral Palsy, Ataxic, Autosomal Recessive

Genetic Tests for Cerebral Palsy, Ataxic, Autosomal Recessive

Anatomical Context for Cerebral Palsy, Ataxic, Autosomal Recessive

MalaCards organs/tissues related to Cerebral Palsy, Ataxic, Autosomal Recessive:

41
Brain, Cerebellum, Bone

Publications for Cerebral Palsy, Ataxic, Autosomal Recessive

Articles related to Cerebral Palsy, Ataxic, Autosomal Recessive:

# Title Authors Year
1
Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review. ( 28826917 )
2017
2
De novo point mutations in patients diagnosed with ataxic cerebral palsy. ( 25981959 )
2015
3
A gene for ataxic cerebral palsy maps to chromosome 9p12-q12. ( 10854109 )
2000
4
Maternal reproductive histories in ataxic cerebral palsy. ( 2301499 )
1990
5
Ataxic cerebral palsy--clinico-radiologic correlations. ( 2739880 )
1989
6
Minor congenital anomalies and ataxic cerebral palsy. ( 2751330 )
1989
7
Ataxic cerebral palsy and genetic predisposition. ( 3196054 )
1988
8
Ataxic cerebral palsy with akinetic seizures; dramatic response to dramamine. ( 13023357 )
1953

Variations for Cerebral Palsy, Ataxic, Autosomal Recessive

Expression for Cerebral Palsy, Ataxic, Autosomal Recessive

Search GEO for disease gene expression data for Cerebral Palsy, Ataxic, Autosomal Recessive.

Pathways for Cerebral Palsy, Ataxic, Autosomal Recessive

Pathways related to Cerebral Palsy, Ataxic, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.46 SLC22A2 SLC22A3
2 10.21 SLC22A2 SLC22A3
3 9.4 SLC22A2 SLC22A3

GO Terms for Cerebral Palsy, Ataxic, Autosomal Recessive

Biological processes related to Cerebral Palsy, Ataxic, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.58 NKX2-1 SPTBN2 VLDLR
2 ion transport GO:0006811 9.55 ITPR1 KCNC3 MCOLN1 SLC22A2 SLC22A3
3 sodium-independent organic anion transport GO:0043252 9.46 SLC22A2 SLC22A3
4 release of sequestered calcium ion into cytosol GO:0051209 9.43 ITPR1 MCOLN1
5 organic anion transport GO:0015711 9.37 SLC22A2 SLC22A3
6 drug transmembrane transport GO:0006855 9.32 SLC22A2 SLC22A3
7 organic cation transport GO:0015695 9.26 SLC22A2 SLC22A3
8 dopamine transport GO:0015872 8.96 SLC22A2 SLC22A3
9 quaternary ammonium group transport GO:0015697 8.62 SLC22A2 SLC22A3

Molecular functions related to Cerebral Palsy, Ataxic, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.37 SLC22A2 SLC22A3
2 organic anion transmembrane transporter activity GO:0008514 9.32 SLC22A2 SLC22A3
3 inorganic anion exchanger activity GO:0005452 9.26 SLC22A2 SLC22A3
4 organic cation transmembrane transporter activity GO:0015101 9.16 SLC22A2 SLC22A3
5 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A2 SLC22A3
6 dopamine transmembrane transporter activity GO:0005329 8.62 SLC22A2 SLC22A3

Sources for Cerebral Palsy, Ataxic, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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