MCID: MCR060
MIFTS: 5

Microcephaly with Spastic Quadriplegia

Categories: Rare diseases

Aliases & Classifications for Microcephaly with Spastic Quadriplegia

MalaCards integrated aliases for Microcephaly with Spastic Quadriplegia:

Name: Microcephaly with Spastic Quadriplegia 53 6
Recessive Microcephaly with Spastic Quadriplegia 53

Classifications:



Summaries for Microcephaly with Spastic Quadriplegia

MalaCards based summary : Microcephaly with Spastic Quadriplegia, also known as recessive microcephaly with spastic quadriplegia, is related to microcephaly, seizures, spasticity, and brain calcifications. An important gene associated with Microcephaly with Spastic Quadriplegia is PCDH12 (Protocadherin 12).

Related Diseases for Microcephaly with Spastic Quadriplegia

Diseases related to Microcephaly with Spastic Quadriplegia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly, seizures, spasticity, and brain calcifications 11.2

Symptoms & Phenotypes for Microcephaly with Spastic Quadriplegia

Drugs & Therapeutics for Microcephaly with Spastic Quadriplegia

Search Clinical Trials , NIH Clinical Center for Microcephaly with Spastic Quadriplegia

Genetic Tests for Microcephaly with Spastic Quadriplegia

Anatomical Context for Microcephaly with Spastic Quadriplegia

Publications for Microcephaly with Spastic Quadriplegia

Variations for Microcephaly with Spastic Quadriplegia

ClinVar genetic disease variations for Microcephaly with Spastic Quadriplegia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH12 NM_016580.3(PCDH12): c.2515C> T (p.Arg839Ter) single nucleotide variant Pathogenic rs375346212 GRCh37 Chromosome 5, 141334902: 141334902
2 PCDH12 NM_016580.3(PCDH12): c.2515C> T (p.Arg839Ter) single nucleotide variant Pathogenic rs375346212 GRCh38 Chromosome 5, 141955337: 141955337

Expression for Microcephaly with Spastic Quadriplegia

Search GEO for disease gene expression data for Microcephaly with Spastic Quadriplegia.

Pathways for Microcephaly with Spastic Quadriplegia

GO Terms for Microcephaly with Spastic Quadriplegia

Sources for Microcephaly with Spastic Quadriplegia

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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