ACP
MCID: CRB108
MIFTS: 43

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 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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


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 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 lung, 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 : 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 140)
# Related Disease Score Top Affiliating Genes
1 acrocephalopolysyndactyly type iii 11.9
2 carpenter syndrome 1 11.7
3 cerebral palsy 11.6
4 dyskinetic cerebral palsy 11.3
5 acrocephalopolysyndactyly type iv 11.2
6 bowenoid papulosis 10.3
7 joubert syndrome 1 10.2
8 heart disease 10.2
9 ischemic heart disease 10.1
10 melioidosis 10.1
11 type 1 diabetes mellitus 8 10.1 SLC22A2 SLC22A3
12 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.1 ITPR1 SPTBN2
13 carotid stenosis 10.1
14 spinocerebellar ataxia 15 10.1 ITPR1 KCNC3 SPTBN2
15 multiple sclerosis 10.0
16 enamel erosion 10.0
17 cervical intraepithelial neoplasia 10.0
18 autosomal dominant cerebellar ataxia 10.0 ITPR1 KCNC3 SPTBN2
19 hypotonia 10.0
20 infantile hypotonia 10.0
21 arteries, anomalies of 10.0
22 peripheral vascular disease 10.0
23 respiratory failure 10.0
24 vascular disease 10.0
25 cerebellar disease 10.0 ITPR1 SPTBN2
26 rheumatoid arthritis 9.9
27 thrombophilia due to thrombin defect 9.9
28 thrombosis 9.9
29 bell's palsy 9.9
30 diarrhea 9.9
31 relapsing-remitting multiple sclerosis 9.9
32 radiculopathy 9.9
33 active peptic ulcer disease 9.9
34 chromosome 3q29 deletion syndrome 9.9 IGF2R SLC22A2 SLC22A3
35 gastroesophageal reflux 9.8
36 polycythemia vera 9.8
37 myocardial infarction 9.8
38 coronary artery anomaly 9.8
39 crohn's disease 9.8
40 hepatitis 9.8
41 nephrolithiasis 9.8
42 glucose intolerance 9.8
43 gout 9.8
44 hepatic encephalopathy 9.8
45 patent foramen ovale 9.8
46 influenza 9.8
47 nonalcoholic steatohepatitis 9.8
48 encephalopathy 9.8
49 chordoid glioma 9.8 GFAP NKX2-1
50 cystic teratoma 9.8 GFAP NKX2-1

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


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 dysarthria 32 HP:0001260
2 motor delay 32 HP:0001270
3 dysdiadochokinesis 32 HP:0002075
4 cerebral palsy 32 HP:0100021
5 horizontal nystagmus 32 HP:0000666
6 cerebellar atrophy 32 HP:0001272
7 broad-based gait 32 HP:0002136

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


ataxia, dysdiadochokinesis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 8.92 ITPR1 KCNC3 MCOLN1 VLDLR

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 GFAP IGF2R ITPR1 KCNC3 MCOLN1 NKX2-1
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 GFAP IGF2R MCOLN1 NKX2-1 SLC22A3
5 mortality/aging MP:0010768 9.65 CTBP1 GFAP IGF2R ITPR1 KCNC3 MCOLN1
6 nervous system MP:0003631 9.36 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:

41
Brain, Cerebellum, Lung, Skin, Kidney, Heart

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 axon guidance GO:0007411 9.43 NKX2-1 SPTBN2 VLDLR
3 release of sequestered calcium ion into cytosol GO:0051209 9.37 ITPR1 MCOLN1
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 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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