ACP
MCID: CRB108
MIFTS: 44

Cerebral Palsy, Ataxic, Autosomal Recessive (ACP)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Palsy, Ataxic, Autosomal Recessive

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

Name: Cerebral Palsy, Ataxic, Autosomal Recessive 58 13
Ataxic Cerebral Palsy 58 12 54 15 74
Hypotonic Cerebral Palsy 12
Cerebral Palsy, Atonic 74
Cerebral Palsy Ataxic 54
Acp 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

33
cerebral palsy, ataxic, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050670
OMIM 58 605388
ICD10 34 G80.4
MedGen 43 C0394005

Summaries for Cerebral Palsy, Ataxic, Autosomal Recessive

OMIM : 58 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 acrocephalopolysyndactyly type iii and carpenter syndrome 1, and has symptoms including ataxia and dysdiadochokinesis. An important gene associated with Cerebral Palsy, Ataxic, Autosomal Recessive is NDUFAB1 (NADH:Ubiquinone Oxidoreductase Subunit AB1), and among its related pathways/superpathways are Metformin Pathway, Pharmacodynamics and Abacavir transport and metabolism. The drug leucine has been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and bone, and related phenotypes are dysarthria and motor delay

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 : 77 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 183)
# Related Disease Score Top Affiliating Genes
1 acrocephalopolysyndactyly type iii 11.8
2 carpenter syndrome 1 11.7
3 cortical dysplasia, complex, with other brain malformations 9 11.3
4 dyskinetic cerebral palsy 11.3
5 acrocephalopolysyndactyly type iv 11.1
6 bowenoid papulosis 10.3
7 joubert syndrome 1 10.2
8 heart disease 10.2
9 melioidosis 10.2
10 type 1 diabetes mellitus 8 10.2 SLC22A2 SLC22A3
11 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.1 ITPR1 SPTBN2
12 ischemic heart disease 10.1
13 hypoglycemia 10.1
14 spinocerebellar ataxia 15 10.1 ITPR1 KCNC3 SPTBN2
15 thrombophilia due to thrombin defect 10.1
16 thrombosis 10.1
17 respiratory failure 10.1
18 carotid stenosis 10.1
19 hypotonia 10.0
20 infantile hypotonia 10.0
21 arteries, anomalies of 10.0
22 multiple sclerosis 10.0
23 enamel erosion 10.0
24 neuropathy 10.0
25 cervical intraepithelial neoplasia 10.0
26 spondyloenchondrodysplasia 10.0
27 alzheimer disease 10.0
28 peripheral vascular disease 10.0
29 diarrhea 10.0
30 vascular disease 10.0
31 dural sinus malformation 10.0
32 cerebellar disease 9.9 ITPR1 SPTBN2
33 gastroesophageal reflux 9.9
34 polycythemia vera 9.9
35 bell's palsy 9.9
36 relapsing-remitting multiple sclerosis 9.9
37 hyperglycemia 9.9
38 radiculopathy 9.9
39 peripheral nervous system disease 9.9
40 active peptic ulcer disease 9.9
41 subacute delirium 9.9
42 irritable bowel syndrome 9.9
43 chromosome 3q29 deletion syndrome 9.9 IGF2R SLC22A2 SLC22A3
44 aortic aneurysm, familial abdominal, 1 9.8
45 breast cancer 9.8
46 cardiac conduction defect 9.8
47 carpal tunnel syndrome 9.8
48 coronary heart disease 1 9.8
49 myocardial infarction 9.8
50 mononeuropathy of the median nerve, mild 9.8

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

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 motor delay 33 HP:0001270
3 dysdiadochokinesis 33 HP:0002075
4 cerebral palsy 33 HP:0100021
5 horizontal nystagmus 33 HP:0000666
6 cerebellar atrophy 33 HP:0001272
7 broad-based gait 33 HP:0002136

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
dysarthria
dysdiadochokinesis
cerebellar atrophy
broad-based gait
more
Head And Neck Eyes:
horizontal nystagmus

Clinical features from OMIM:

605388

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


ataxia, dysdiadochokinesis

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 GFAP IGF2R ITPR1 KCNC3 MCOLN1 NKX2-1
2 growth/size/body region MP:0005378 9.96 CTBP1 GFAP IGF2R ITPR1 KCNC3 MCOLN1
3 homeostasis/metabolism MP:0005376 9.81 GFAP IGF2R ITPR1 KCNC3 MCOLN1 NKX2-1
4 mortality/aging MP:0010768 9.61 CTBP1 GFAP IGF2R ITPR1 KCNC3 MCOLN1
5 nervous system MP:0003631 9.32 CTBP1 GFAP IGF2R ITPR1 KCNC3 MCOLN1

Drugs & Therapeutics for Cerebral Palsy, Ataxic, Autosomal Recessive

Drugs for Cerebral Palsy, Ataxic, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 leucine Not Applicable

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
2 10-week Leucine Supplementation in Cerebral Palsy Enrolling by invitation NCT03668548 Not Applicable

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:

42
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
Cerebellar transcranial direct current stimulation in children with ataxic cerebral palsy: A sham-controlled, crossover, pilot study. ( 27003795 )
2017
3
De novo point mutations in patients diagnosed with ataxic cerebral palsy. ( 25981959 )
2015
4
A gene for ataxic cerebral palsy maps to chromosome 9p12-q12. ( 10854109 )
2000
5
Maternal reproductive histories in ataxic cerebral palsy. ( 2301499 )
1990
6
Ataxic cerebral palsy--clinico-radiologic correlations. ( 2739880 )
1989
7
Minor congenital anomalies and ataxic cerebral palsy. ( 2751330 )
1989
8
Ataxic cerebral palsy and genetic predisposition. ( 3196054 )
1988
9
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 10.81 NDUFAB1 SLC22A3
2
Show member pathways
10.46 SLC22A2 SLC22A3
3 10.21 SLC22A2 SLC22A3
4 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 transmembrane transport GO:0055085 9.62 ITPR1 KCNC3 SLC22A2 SLC22A3
2 release of sequestered calcium ion into cytosol GO:0051209 9.37 ITPR1 MCOLN1
3 endoderm development GO:0007492 9.26 APELA NKX2-1
4 drug transmembrane transport GO:0006855 9.16 SLC22A2 SLC22A3
5 ion transport GO:0006811 9.02 ITPR1 KCNC3 MCOLN1 SLC22A2 SLC22A3
6 organic cation transport GO:0015695 8.96 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 organic cation transmembrane transporter activity GO:0015101 8.62 SLC22A2 SLC22A3

Sources for Cerebral Palsy, Ataxic, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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