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 57 29 13 6 73
Cpsq2 57 75
Palsy, Cerebral, Spastic Quadriplegic, Type 2 40
Cerebral Palsy, Spastic Quadriplegic 2 75

Characteristics:

HPO:

32
cerebral palsy, spastic quadriplegic, 2:
Inheritance autosomal dominant inheritance with maternal imprinting


Classifications:



Summaries for Cerebral Palsy, Spastic Quadriplegic, 2

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

612900

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 muscular hypotonia 32 HP:0001252
3 spastic tetraplegia 32 HP:0002510
4 ventriculomegaly 32 HP:0002119
5 cerebral palsy 32 HP:0100021
6 cerebral atrophy 32 HP:0002059

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 29 KANK1

Anatomical Context for Cerebral Palsy, Spastic Quadriplegic, 2

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

41
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_015158.3(KANK1): c.2933T> C (p.Met978Thr) single nucleotide variant Uncertain significance rs753441206 GRCh38 Chromosome 9, 731194: 731194
3 KANK1 NM_015158.3(KANK1): c.2933T> C (p.Met978Thr) single nucleotide variant Uncertain significance rs753441206 GRCh37 Chromosome 9, 731194: 731194
4 KANK1 NM_001256877.2(KANK1): c.2885C> T (p.Ala962Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 730237: 730237
5 KANK1 NM_001256877.2(KANK1): c.2885C> T (p.Ala962Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 730237: 730237

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 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
Content
Loading form....