MCID: MCR060
MIFTS: 9

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 20 6
Recessive Microcephaly with Spastic Quadriplegia 20

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 diencephalic-mesencephalic junction dysplasia syndrome 1. 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 diencephalic-mesencephalic junction dysplasia syndrome 1 11.3

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

Articles related to Microcephaly with Spastic Quadriplegia:

# Title Authors PMID Year
1
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. 6
30178464 2018
2
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. 6
27164683 2016
3
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. 6
22822038 2012
4
Familial microcephaly with severe neurological deficits: a description of five affected siblings. 6
7774041 1995

Variations for Microcephaly with Spastic Quadriplegia

ClinVar genetic disease variations for Microcephaly with Spastic Quadriplegia:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCDH12 NM_016580.3(PCDH12):c.2511del (p.Ser838fs) Deletion Pathogenic 684718 rs1596646372 GRCh37: 5:141334906-141334906
GRCh38: 5:141955341-141955341
2 PCDH12 PCDH12, ARG151TER SNV Pathogenic 694061 GRCh37:
GRCh38:
3 PCDH12 NM_016580.3(PCDH12):c.2765_2766del (p.Pro922fs) Deletion Pathogenic 684719 rs1596646165 GRCh37: 5:141334651-141334652
GRCh38: 5:141955086-141955087
4 PCDH12 NM_016580.3(PCDH12):c.2515C>T (p.Arg839Ter) SNV Pathogenic 440889 rs375346212 GRCh37: 5:141334902-141334902
GRCh38: 5:141955337-141955337
5 PCDH12 NM_016580.4(PCDH12):c.115G>T (p.Glu39Ter) SNV Likely pathogenic 1030562 GRCh37: 5:141337302-141337302
GRCh38: 5:141957737-141957737
6 PCDH12 NM_016580.4(PCDH12):c.1408C>T (p.Arg470Trp) SNV Uncertain significance 1030563 GRCh37: 5:141336009-141336009
GRCh38: 5:141956444-141956444
7 PCDH12 NM_016580.4(PCDH12):c.1951C>G (p.Pro651Ala) SNV Uncertain significance 1030564 GRCh37: 5:141335466-141335466
GRCh38: 5:141955901-141955901
8 DELE1 , PCDH12 NM_016580.4(PCDH12):c.3146G>A (p.Arg1049Gln) SNV Uncertain significance 1030565 GRCh37: 5:141325355-141325355
GRCh38: 5:141945790-141945790
9 DELE1 , PCDH12 NM_016580.4(PCDH12):c.3370C>T (p.Arg1124Cys) SNV Uncertain significance 1030566 GRCh37: 5:141325131-141325131
GRCh38: 5:141945566-141945566
10 DELE1 , PCDH12 NM_016580.4(PCDH12):c.3445G>T (p.Asp1149Tyr) SNV Uncertain significance 816886 rs762172327 GRCh37: 5:141325056-141325056
GRCh38: 5:141945491-141945491
11 PCDH12 NM_016580.4(PCDH12):c.152A>G (p.Gln51Arg) SNV Uncertain significance 996904 GRCh37: 5:141337265-141337265
GRCh38: 5:141957700-141957700
12 PCDH12 NM_016580.3(PCDH12):c.2734C>T (p.Arg912Trp) SNV Uncertain significance 587639 rs574087581 GRCh37: 5:141334683-141334683
GRCh38: 5:141955118-141955118

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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