MCID: ASP037
MIFTS: 11

Aspm Primary Microcephaly

Aliases & Classifications for Aspm Primary Microcephaly

MalaCards integrated aliases for Aspm Primary Microcephaly:

Name: Aspm Primary Microcephaly 24
Microcephaly Primary Hereditary 24
Aspm Microcephalia Vera 24
Mcph 5 24

Summaries for Aspm Primary Microcephaly

MalaCards based summary : Aspm Primary Microcephaly, also known as microcephaly primary hereditary, is related to microcephaly 5, primary, autosomal recessive and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Aspm Primary Microcephaly is ASPM (Assembly Factor For Spindle Microtubules). Affiliated tissues include brain and testes.

GeneReviews: NBK555474

Related Diseases for Aspm Primary Microcephaly

Diseases related to Aspm Primary Microcephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 5, primary, autosomal recessive 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 primary autosomal recessive microcephaly 10.2
4 primary microcephaly 10.2
5 microcephaly 10.2
6 spasticity 10.2

Graphical network of the top 20 diseases related to Aspm Primary Microcephaly:



Diseases related to Aspm Primary Microcephaly

Symptoms & Phenotypes for Aspm Primary Microcephaly

Drugs & Therapeutics for Aspm Primary Microcephaly

Search Clinical Trials , NIH Clinical Center for Aspm Primary Microcephaly

Genetic Tests for Aspm Primary Microcephaly

Anatomical Context for Aspm Primary Microcephaly

MalaCards organs/tissues related to Aspm Primary Microcephaly:

40
Brain, Testes

Publications for Aspm Primary Microcephaly

Articles related to Aspm Primary Microcephaly:

(show all 25)
# Title Authors PMID Year
1
The Genetics of Primary Microcephaly. 24 61
29799801 2018
2
Autosomal recessive primary microcephaly due to ASPM mutations: An update. 24 61
29243349 2018
3
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
4
Genetic heterogeneity in Pakistani microcephaly families revisited. 24
28004384 2017
5
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. 24
27974163 2016
6
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory. 24
26691732 2016
7
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. 24
24691052 2014
8
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. 24
24077912 2014
9
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit. 24
22823409 2013
10
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 24
20978018 2010
11
Human ASPM participates in spindle organisation, spindle orientation and cytokinesis. 24
21044324 2010
12
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 24
19770472 2009
13
ASPM and citron kinase co-localize to the midbody ring during cytokinesis. 24
17534152 2007
14
Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells. 24
16798874 2006
15
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. 24
15972725 2005
16
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. 24
15045028 2004
17
ASPM is a major determinant of cerebral cortical size. 24
12355089 2002
18
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. 24
11067780 2000
19
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. 24
11078481 2000
20
ASPM Primary Microcephaly 61
32239881 2020
21
Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report. 61
31788460 2019
22
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. 61
29388391 2018
23
Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing. 61
29431480 2018
24
Primary microcephaly caused by novel compound heterozygous mutations in ASPM. 61
29644084 2018
25
Autosomal Recessive Primary Microcephaly (MCPH): An Update. 61
28399591 2017

Variations for Aspm Primary Microcephaly

Expression for Aspm Primary Microcephaly

Search GEO for disease gene expression data for Aspm Primary Microcephaly.

Pathways for Aspm Primary Microcephaly

GO Terms for Aspm Primary Microcephaly

Sources for Aspm Primary Microcephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....