ACP
MCID: CRB108
MIFTS: 38

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 72 33
Hypotonic Cerebral Palsy 12
Cerebral Palsy, Atonic 72
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:

Disease Ontology 12 DOID:0050670
OMIM 57 605388
ICD10 33 G80.4
MedGen 42 C0394005
UMLS 72 C0394005 C0394007

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 aceruloplasminemia and acrocephalopolysyndactyly type iii, 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 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 : 75 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 276)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 29.2 SPTBN2 KCNC3 ITPR1 GFAP
2 acrocephalopolysyndactyly type iii 12.0
3 carpenter syndrome 1 11.8
4 cortical dysplasia, complex, with other brain malformations 9 11.4
5 dyskinetic cerebral palsy 11.4
6 obsolete: sakati-nyhan syndrome 11.4
7 acrocephalopolysyndactyly type iv 11.2
8 melioidosis 10.7
9 atrial fibrillation 10.4
10 ataxia and polyneuropathy, adult-onset 10.3
11 dental caries 10.3
12 type 1 diabetes mellitus 8 10.3 SLC22A3 SLC22A2
13 osteoarthritis 10.3
14 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.2 SPTBN2 ITPR1
15 arteries, anomalies of 10.2
16 respiratory failure 10.2
17 coronary artery anomaly 10.2
18 alzheimer disease 10.2
19 migraine with or without aura 1 10.2
20 thrombophilia due to thrombin defect 10.2
21 hyperlipoproteinemia, type iii 10.2
22 enamel erosion 10.2
23 hypoglycemia 10.2
24 back pain 10.2
25 mycobacterium tuberculosis 1 10.2
26 peripheral vascular disease 10.2
27 dementia 10.2
28 pneumonia 10.2
29 irritable bowel syndrome 10.2
30 joubert syndrome 1 10.2
31 hypotonia 10.2
32 prostate cancer 10.1
33 cardiac arrest 10.1
34 thrombosis 10.1
35 carotid stenosis 10.1
36 kidney disease 10.1
37 spinocerebellar ataxia 15 10.1 SPTBN2 KCNC3 ITPR1
38 multiple sclerosis 10.1
39 pulmonary alveolar microlithiasis 10.1
40 helix syndrome 10.1
41 sleep apnea 10.1
42 toxic shock syndrome 10.1
43 chronic kidney disease 10.1
44 subacute delirium 10.1
45 neuropathy 10.1
46 osteoporosis 10.1
47 triiodothyronine receptor auxiliary protein 10.1
48 pulmonary disease, chronic obstructive 10.1
49 bone mineral density quantitative trait locus 8 10.1
50 bone mineral density quantitative trait locus 15 10.1

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

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

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

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 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

Search Clinical Trials , 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, Thyroid

Publications for Cerebral Palsy, Ataxic, Autosomal Recessive

Articles related to Cerebral Palsy, Ataxic, Autosomal Recessive:

(show all 31)
# Title Authors PMID Year
1
A gene for ataxic cerebral palsy maps to chromosome 9p12-q12. 38 8
10854109 2000
2
A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding. 8
8044647 1993
3
Genetic aspects of cerebral palsy. 8
1544520 1992
4
Trends in birth prevalence of cerebral palsy. 8
3592729 1987
5
Trunk Control in Children With Ataxic Cerebral Palsy. 38
31234723 2019
6
Non-invasive Cerebellar Stimulation in Cerebellar Disorders. 38
29623859 2018
7
Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review. 38
28826917 2017
8
[Application of BARS scale in children with ataxia in a child rehabilitation center in Chiapas, Mexico]. 38
29190864 2017
9
Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays. 38
28767196 2017
10
Cerebellar transcranial direct current stimulation in children with ataxic cerebral palsy: A sham-controlled, crossover, pilot study. 38
27003795 2017
11
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene. 38
28503612 2016
12
De novo point mutations in patients diagnosed with ataxic cerebral palsy. 38
25981959 2015
13
Functional and fixed orthodontic treatment in a child with cerebral palsy. 38
24703291 2014
14
Prevalence of ataxia in children: a systematic review. 38
24285620 2014
15
Population-based study of acquired cerebellar ataxia in Al-Kharga district, New Valley, Egypt. 38
21552320 2011
16
Effect of hippotherapy on perceived self-competence and participation in a child with cerebral palsy. 38
21829130 2011
17
The significance of measurement of serum unbound bilirubin concentrations in high-risk infants. 38
19419529 2009
18
Diagnosis, treatment, and prevention of cerebral palsy. 38
18981805 2008
19
[Mucolipidoses type IV in a patient with mapuche ancestry]. 38
18949166 2008
20
Probability of walking in children with cerebral palsy in Europe. 38
18070932 2008
21
Parents' perceptions of the quality of two intensive training programmes for children with cerebral palsy. 38
17253994 2007
22
[Magnetic resonance imaging findings in children with cerebral palsy]. 38
15059489 2004
23
CT and MR patterns of hypoxic ischemic brain damage following perinatal asphyxia. 38
11866337 2002
24
[Ataxic cerebral palsy and brain imaging]. 38
1389327 1992
25
Maternal reproductive histories in ataxic cerebral palsy. 38
2301499 1990
26
Ataxic cerebral palsy--clinico-radiologic correlations. 38
2739880 1989
27
Minor congenital anomalies and ataxic cerebral palsy. 38
2751330 1989
28
Ataxic cerebral palsy and genetic predisposition. 38
3196054 1988
29
Outcome in infants of birth weight 500 to 999 g: a continuing regional study of 5-year-old survivors. 38
2959764 1987
30
Pathogenetic and preventive aspects of non-progressive ataxic syndromes. 38
389719 1979
31
Ataxic cerebral palsy with akinetic seizures; dramatic response to dramamine. 38
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
10.26 SLC22A3 SLC22A2
2 9.88 SLC22A3 SLC22A2

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 9.56 SLC22A3 SLC22A2 KCNC3 ITPR1
2 release of sequestered calcium ion into cytosol GO:0051209 9.32 MCOLN1 ITPR1
3 drug transmembrane transport GO:0006855 9.16 SLC22A3 SLC22A2
4 ion transport GO:0006811 9.02 SLC22A3 SLC22A2 MCOLN1 KCNC3 ITPR1
5 organic cation transport GO:0015695 8.96 SLC22A3 SLC22A2

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 SLC22A3 SLC22A2

Sources for Cerebral Palsy, Ataxic, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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