CPSQ2
MCID: CRB140
MIFTS: 16

Cerebral Palsy, Spastic Quadriplegic, 2 (CPSQ2)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cerebral Palsy, Spastic Quadriplegic, 2

MalaCards integrated aliases for Cerebral Palsy, Spastic Quadriplegic, 2:

Name: Cerebral Palsy, Spastic Quadriplegic, 2 58 30 13 6 74
Cpsq2 58 76
Palsy, Cerebral, Spastic Quadriplegic, Type 2 41
Cerebral Palsy, Spastic Quadriplegic 2 76

Characteristics:

HPO:

33
cerebral palsy, spastic quadriplegic, 2:
Inheritance autosomal dominant inheritance with maternal imprinting


Classifications:



Summaries for Cerebral Palsy, Spastic Quadriplegic, 2

UniProtKB/Swiss-Prot : 76 Cerebral palsy, spastic quadriplegic 2: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly.

MalaCards based summary : Cerebral Palsy, Spastic Quadriplegic, 2, is also known as cpsq2. An important gene associated with Cerebral Palsy, Spastic Quadriplegic, 2 is KANK1 (KN Motif And Ankyrin Repeat Domains 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and muscular hypotonia

Description from OMIM: 612900

Related Diseases for Cerebral Palsy, Spastic Quadriplegic, 2

Diseases in the Cerebral Palsy, Spastic Quadriplegic, 1 family:

Cerebral Palsy, Spastic Quadriplegic, 2 Cerebral Palsy, Spastic Quadriplegic, 3

Symptoms & Phenotypes for Cerebral Palsy, Spastic Quadriplegic, 2

Human phenotypes related to Cerebral Palsy, Spastic Quadriplegic, 2:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 muscular hypotonia 33 HP:0001252
3 spastic tetraplegia 33 HP:0002510
4 ventriculomegaly 33 HP:0002119
5 cerebral palsy 33 HP:0100021
6 cerebral atrophy 33 HP:0002059

Clinical features from OMIM:

612900

Drugs & Therapeutics for Cerebral Palsy, Spastic Quadriplegic, 2

Search Clinical Trials , NIH Clinical Center for Cerebral Palsy, Spastic Quadriplegic, 2

Genetic Tests for Cerebral Palsy, Spastic Quadriplegic, 2

Genetic tests related to Cerebral Palsy, Spastic Quadriplegic, 2:

# Genetic test Affiliating Genes
1 Cerebral Palsy, Spastic Quadriplegic, 2 30 KANK1

Anatomical Context for Cerebral Palsy, Spastic Quadriplegic, 2

MalaCards organs/tissues related to Cerebral Palsy, Spastic Quadriplegic, 2:

42
Brain

Publications for Cerebral Palsy, Spastic Quadriplegic, 2

Variations for Cerebral Palsy, Spastic Quadriplegic, 2

ClinVar genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KANK1 KANK1, DEL, PATERNAL ALLELE deletion Pathogenic
2 KANK1 NM_015158.4(KANK1): c.2933T> C (p.Met978Thr) single nucleotide variant Uncertain significance rs753441206 GRCh37 Chromosome 9, 731194: 731194
3 KANK1 NM_015158.4(KANK1): c.2933T> C (p.Met978Thr) single nucleotide variant Uncertain significance rs753441206 GRCh38 Chromosome 9, 731194: 731194
4 KANK1 NM_001256877.2(KANK1): c.2885C> T (p.Ala962Val) single nucleotide variant Uncertain significance rs1554713996 GRCh37 Chromosome 9, 730237: 730237
5 KANK1 NM_001256877.2(KANK1): c.2885C> T (p.Ala962Val) single nucleotide variant Uncertain significance rs1554713996 GRCh38 Chromosome 9, 730237: 730237
6 KANK1 NM_001256876.2(KANK1): c.130G> T (p.Asp44Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 710896: 710896
7 KANK1 NM_001256876.2(KANK1): c.130G> T (p.Asp44Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 710896: 710896

Expression for Cerebral Palsy, Spastic Quadriplegic, 2

Search GEO for disease gene expression data for Cerebral Palsy, Spastic Quadriplegic, 2.

Pathways for Cerebral Palsy, Spastic Quadriplegic, 2

GO Terms for Cerebral Palsy, Spastic Quadriplegic, 2

Sources for Cerebral Palsy, Spastic Quadriplegic, 2

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
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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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