MCID: MCR010
MIFTS: 53

Microcephaly malady

Summaries for Microcephaly

About this section
Sources:
42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Microcephaly is a neurological condition in which a person's head is significantly smaller than normal for their age and sex, based on standardized charts. this condition, which most often occurs because the brain fails to grow at a normal rate, can be present at birth or it may develop in the first few years of life. conditions that affect brain growth and can cause microcephaly include infections, genetic disorders, severe malnutrition and other environmental factors. some children with microcephaly will be of normal intelligence and development. however, many children with microcephaly experience complications such as developmental delays, difficulties with balance and coordination, short stature, hyperactivity, mental retardation, seizures or other neurological abnormalities. while there's no treatment for microcephaly, early intervention may help enhance development and improve quality of life. last updated: 4/7/2010

MalaCards: Microcephaly, also known as microencephaly, is related to primary autosomal recessive microcephaly type 1 and microcephaly, primary autosomal recessive. An important gene associated with Microcephaly is ASPM (asp (abnormal spindle) homolog, microcephaly associated (Drosophila)), and among its related pathways are Cell Cycle and Recruitment of mitotic centrosome proteins and complexes. Affiliated tissues include brain, heart and skin, and related mouse phenotypes are nervous system and cellular.

NINDS:43 Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing.

Wikipedia:63 Microcephaly is a neurodevelopmental disorder. It is an important neurologic sign but there is... more...

Description from OMIM:46 612703, 251200, 604321, 608393, 604804 608716 more

Aliases & Classifications for Microcephaly

About this section
Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 39NCIt, 46OMIM, 56SNOMED-CT, 27ICD9CM, 34MeSH, 60UMLS
See all sources

Aliases & Descriptions:

microcephaly 8 63 42 43 10 44
microencephaly 8 42
microcephalus nos 8
microcephalus 8
micrencephaly 8


External Ids:

Disease Ontology8 DOID:10907
NCIt39 C85874
ICD9CM27 742.1
MeSH34 D008831

Related Diseases for Microcephaly

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Microcephaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 687)
idRelated DiseaseScoreTop Affiliating Genes
1primary autosomal recessive microcephaly type 130.5CDK5RAP2, MCPH1, ASPM, CENPJ
2microcephaly, primary autosomal recessive30.4CDK5RAP2, CENPJ, ASPM, MCPH1
3intellectual disability30.3ASPM, MCPH1, CASK
4lissencephaly30.0NDE1, TUBA1A
5seckel syndrome29.9MCPH1, CENPJ, CEP152
6autosomal dominant microcephaly10.4
7amish lethal microcephaly10.4
8microcephaly-capillary malformation syndrome10.3
9nijmegen breakage syndrome10.3
10microphthalmia10.2
11achalasia microcephaly syndrome10.2
12chorioretinitis10.2
13congenital ichthyosis, microcephalus, quadriplegia10.2
14cleft palate10.2
15cataract10.2
16feingold syndrome10.2
17cerebritis10.2
18lymphedema, microcephaly and chorioretinopathy syndrome10.2
19microcephaly-cardiomyopathy10.2
20microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.2
21mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity10.2
22mental retardation and microcephaly with pontine and cerebellar hypoplasia10.2
23syndactyly10.1
24congenital heart defect10.1
25craniosynostosis10.1
26lymphedema10.1
27retinitis10.1
28synostosis10.1
29microcephaly cervical spine fusion anomalies10.1
30primary autosomal recessive microcephaly type 410.1
31coloboma10.1
32nephrotic syndrome10.1
33microcephaly-albinism-digital anomalies syndrome10.1
34anonychia total with microcephaly10.1
35extrasystoles short stature hyperpigmentation microcephaly10.1
36microcephaly, hiatal hernia and nephrotic syndrome10.1
37microcephaly microcornea syndrome seemanova type10.1
38radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.1
39primary autosomal recessive microcephaly type 910.1
40primary autosomal recessive microcephaly type 510.1
41renpenning syndrome10.1
42dysostosis10.1
43microcephaly brain defect spasticity hypernatremia10.1
44microcephaly, epilepsy, and diabetes syndrome10.1
45rett syndrome10.0
46angelman syndrome10.0
47dubowitz syndrome10.0
48neuronitis10.0
49pseudo-torch syndrome10.0
50blepharophimosis10.0

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to microcephaly

Clinical Features for Microcephaly

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

612703,251200,604321,608393,604804,608716

Drugs & Therapeutics for Microcephaly

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Microcephaly

Drug clinical trials:

Search ClinicalTrials for Microcephaly

Search NIH Clinical Center for Microcephaly

Search CenterWatch for Microcephaly

Genetic Tests for Microcephaly

About this section

Anatomical Context for Microcephaly

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Microcephaly:

32
Brain, Heart, Skin, Bone, Fetal brain, Eye, Cerebellum, Tongue, Thyroid, Cortex, Testes

Animal Models for Microcephaly or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Microcephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363111.2TUBA1A, ASPM, NBN, SLC25A19, MCPH1, CDK5RAP2
2MP:000538411.1SLC25A19, CENPJ, TUBA1A, CASK, NDE1, PHGDH
3MP:000538211.1CASK, PHGDH, CDK5RAP2, MCPH1, SLC25A19, NBN
4MP:000537810.9CENPJ, CASK, ASPM, NBN, SLC25A19, MCPH1

Publications for Microcephaly

About this section
Sources:
50PubMed
See all sources

Articles related to Microcephaly:

(show top 50)    (show all 595)
idTitleAuthorsYear
1
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. (24138066)
2013
2
Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cells. (23874697)
2013
3
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. (23918663)
2013
4
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. (23542699)
2013
5
Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma. (23472065)
2013
6
WITHDRAWN: Is microcephaly a so-far unrecognized feature of XYY syndrome? (24035900)
2013
7
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. (22284827)
2012
8
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. (22305528)
2012
9
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. (22407726)
2012
10
Mutations in the I^-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. (23246003)
2012
11
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. (21800092)
2012
12
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. (22508754)
2012
13
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. (21294719)
2011
14
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? (21252004)
2011
15
Early postnatal blood concentrations of inflammation-related proteins and microcephaly two years later in infants born before the 28th post-menstrual week. (21334149)
2011
16
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations. (21271670)
2011
17
VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. (21737879)
2011
18
Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age. (21567906)
2011
19
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3a89pter) and partial monosomy 13q (13q33.3a89qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. (21056318)
2010
20
Practice parameter: evaluation of the child with microcephaly (an evidence-based review): report of the quality standards subcommittee of the American Academy Of Neurology and the Practice Committee Of The Child Neurology Society. (20350982)
2010
21
Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. (20450312)
2010
22
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. (20598275)
2010
23
Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes. (19530192)
2009
24
Primary microcephaly in two children born to mothers with complicated appendicitis or late appendectomy during pregnancy. (19235832)
2009
25
The molecular landscape of ASPM mutations in primary microcephaly. (19028728)
2009
26
Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. (19752457)
2009
27
A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis. (18564499)
2008
28
A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. (18071751)
2008
29
An 8-month-old boy with cleft palate, microcephaly, developmental delay, and syndactyly. Smith-Lemili-Opitz syndrome. (17515167)
2007
30
Pronounced microcephaly in a patient with malignant migrating partial seizures in infancy. (17307719)
2007
31
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. (17764569)
2007
32
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. (16972080)
2006
33
Nonsyndromic microcephaly: an overview. (16124344)
2005
34
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. (16133170)
2005
35
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome. (14691719)
2004
36
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. (15355437)
2004
37
Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1. (14641475)
2003
38
Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. (12494436)
2003
39
What's new in neurogenetics? Amish microcephaly. (14623217)
2003
40
Riga-Fede disease: association with microcephaly. (12452988)
2002
41
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. (10677332)
2000
42
Microcephaly with normal intelligence, and chorioretinopathy. (10617924)
1999
43
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. (10521316)
1999
44
MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. (9781023)
1998
45
Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome? (9096751)
1997
46
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. (7545870)
1995
47
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. (8249951)
1993
48
Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? (1956062)
1991
49
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. (3172144)
1988
50
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) (3177467)
1988

Genetic Variations for Microcephaly

About this section

Expression for genes affiliated with Microcephaly

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Microcephaly

Search GEO for disease gene expression data for Microcephaly.

Pathways for genes affiliated with Microcephaly

About this section
Sources:
53Reactome, 29KEGG, 12EMD Millipore
See all sources

Compounds for genes affiliated with Microcephaly

About this section

GO Terms for genes affiliated with Microcephaly

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Microcephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582911.0TUBA1A, CASK, CASC5, NDE1, PHGDH, CDK5RAP2
2centrosomeGO:00581310.8CEP152, CENPJ, CEP135, CDK5RAP2, NDE1
3microtubuleGO:00587410.8CENPJ, CDK5RAP2, NDE1, TUBA1A
4spindle poleGO:00092210.4WDR62, CDK5RAP2, ASPM

Biological processes related to Microcephaly according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1mitotic cell cycleGO:00027811.1TUBA1A, CASC5, NDE1, CDK5RAP2, CEP135, CENPJ
2G2/M transition of mitotic cell cycleGO:00008611.1CEP152, CENPJ, CEP135, CDK5RAP2, NDE1, TUBA1A
3centriole replicationGO:00709910.7CEP135, CENPJ
4centrosome duplicationGO:05129810.7NDE1, CEP152
5neurogenesisGO:02200810.6CDK5RAP2, WDR62
6microtubule nucleationGO:00702010.6NDE1, CENPJ
7establishment of mitotic spindle orientationGO:00013210.5NDE1, CDK5RAP2
8cell divisionGO:05130110.5CENPJ, NDE1, CASC5, TUBA1A

Molecular functions related to Microcephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:00551610.7ASPM, CDK5RAP2, CASK
2protein domain specific bindingGO:01990410.6CENPJ, NDE1, TUBA1A
3tubulin bindingGO:01563110.3CENPJ, CDK5RAP2

Products for genes affiliated with Microcephaly

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microcephaly

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet