CPSQ2
MCID: CRB140
MIFTS: 18

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 70
Cpsq2 57 72
Palsy, Cerebral, Spastic Quadriplegic, Type 2 39
Cerebral Palsy, Spastic Quadriplegic 2 72

Characteristics:

HPO:

31
cerebral palsy, spastic quadriplegic, 2:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance with maternal imprinting


Classifications:



External Ids:

OMIM® 57 612900
OMIM Phenotypic Series 57 PS603513
MeSH 44 D002547
MedGen 41 C2752061
UMLS 70 C2752061

Summaries for Cerebral Palsy, Spastic Quadriplegic, 2

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are intellectual disability and nystagmus

More information from OMIM: 612900 PS603513

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 nystagmus 31 HP:0000639
3 spastic tetraplegia 31 HP:0002510
4 ventriculomegaly 31 HP:0002119
5 cerebral palsy 31 HP:0100021
6 cerebral atrophy 31 HP:0002059
7 hypotonia 31 HP:0001252

Clinical features from OMIM®:

612900 (Updated 20-May-2021)

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

Publications for Cerebral Palsy, Spastic Quadriplegic, 2

Articles related to Cerebral Palsy, Spastic Quadriplegic, 2:

# Title Authors PMID Year
1
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. 6 57
16301218 2005

Variations for Cerebral Palsy, Spastic Quadriplegic, 2

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KANK1 KANK1, DEL, PATERNAL ALLELE Deletion Pathogenic 2908 GRCh37:
GRCh38:
2 KANK1 NM_015158.4(KANK1):c.2933T>C (p.Met978Thr) SNV Uncertain significance 417878 rs753441206 GRCh37: 9:731194-731194
GRCh38: 9:731194-731194
3 KANK1 NM_001256876.2(KANK1):c.130G>T (p.Asp44Tyr) SNV Uncertain significance 592115 rs1564032190 GRCh37: 9:710896-710896
GRCh38: 9:710896-710896
4 KANK1 NM_015158.5(KANK1):c.1086G>C (p.Gln362His) SNV Uncertain significance 1027945 GRCh37: 9:711852-711852
GRCh38: 9:711852-711852
5 KANK1 NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys) SNV Uncertain significance 1048860 GRCh37: 9:712667-712667
GRCh38: 9:712667-712667
6 KANK1 NM_015158.5(KANK1):c.3709del (p.Ala1237fs) Deletion Uncertain significance 1033739 GRCh37: 9:742216-742216
GRCh38: 9:742216-742216
7 KANK1 NM_015158.5(KANK1):c.2683C>A (p.Leu895Met) SNV Uncertain significance 1033738 GRCh37: 9:713449-713449
GRCh38: 9:713449-713449
8 KANK1 NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly) SNV Uncertain significance 1033737 GRCh37: 9:712786-712786
GRCh38: 9:712786-712786
9 KANK1 NM_001256877.2(KANK1):c.2885C>T (p.Ala962Val) SNV Uncertain significance 431723 rs1554713996 GRCh37: 9:730237-730237
GRCh38: 9:730237-730237
10 KANK1 NM_015158.5(KANK1):c.3554-9_3554-5del Deletion Benign 931793 GRCh37: 9:740770-740774
GRCh38: 9:740770-740774

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....