MCID: MCR010
MIFTS: 53

Microcephaly malady

Summaries for Microcephaly

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42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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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

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 39NCIt, 46OMIM, 56SNOMED-CT, 27ICD9CM, 34MeSH, 60UMLS
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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

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17GeneCards, 18GeneDecks
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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

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46OMIM
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Clinical features from OMIM:

612703,251200,604321,608393,604804,608716

Drugs & Therapeutics for Microcephaly

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Microcephaly

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32MalaCards
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MalaCards organs/tissues related to Microcephaly:

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

Animal Models for Microcephaly or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Microcephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363111.2TUBA1A, CASK, NDE1, MBD5, PHGDH, CDK5RAP2
2MP:000538411.1CASK, NDE1, PHGDH, CDK5RAP2, MCPH1, SLC25A19
3MP:000538211.1CENPJ, CASK, PHGDH, CDK5RAP2, MCPH1, SLC25A19
4MP:000537810.9PHGDH, MBD5, CASK, TUBA1A, CDK5RAP2, MCPH1

Publications for Microcephaly

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50PubMed
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Articles related to Microcephaly:

(show top 50)    (show all 595)
idTitleAuthorsYear
1
Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
2013
2
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. (23418308)
2013
3
DNA damage response in microcephaly development of MCPH1 mouse model. (23683352)
2013
4
A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene. (24032297)
2013
5
Posterior Fossa in Primary Microcephaly: Relationships between Forebrain and Mid-Hindbrain Size in 110 Patients. (24234199)
2013
6
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. (24228726)
2013
7
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. (23812912)
2013
8
Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness. (23072189)
2012
9
Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly. (23040944)
2012
10
Postnatal-onset microcephaly: pathogenesis, patterns of growth, and prediction of outcome. (21422087)
2011
11
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation. (21567918)
2011
12
Primary microcephaly 3 (MCPH3): revisiting two critical mutations. (21512315)
2011
13
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. (22002884)
2011
14
Brain evolution: microcephaly genes weigh in. (20219177)
2010
15
Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline. (20823249)
2010
16
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. (20949544)
2010
17
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. (19838731)
2010
18
Developmental outcome of isolated fetal microcephaly. (20069548)
2010
19
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report. (19239688)
2009
20
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. (19165920)
2008
21
A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. (17369115)
2007
22
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. (16311745)
2006
23
Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data. (16532515)
2006
24
24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism. (16769261)
2006
25
What primary microcephaly can tell us about brain growth. (16829198)
2006
26
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. (16358361)
2006
27
ASPM mutations identified in patients with primary microcephaly and seizures. (16141009)
2005
28
Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. (16015581)
2005
29
Evolution of primary microcephaly genes and the enlargement of primate brains. (15917198)
2005
30
Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly. (15216407)
2004
31
Giant occipital encephalocele with microcephaly and micrognathia. (15608496)
2004
32
Factors associated with microcephaly at school age in a very-low-birthweight population. (14667070)
2003
33
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. (12362027)
2002
34
Microcephaly with dysgenesis of corpus callosum and colpocephaly in the survivor after the first-trimester death of a monochorionic co-twin. (12124705)
2002
35
Significance of microcephaly among children with developmental disabilities. (11952071)
2002
36
Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome? (12150211)
2002
37
An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration. (12353901)
2002
38
Pyridostigmine-induced microcephaly. (11402134)
2001
39
Prenatal hypoxic ischaemic-encephalopathy leading to microcephaly in a sickle cell pregnancy with recovery from a 'terminal CTG'. (11236124)
2001
40
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. (11053679)
2000
41
Pyridostigmine-induced microcephaly. (10802806)
2000
42
Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. (10521829)
1999
43
The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family. (9571284)
1998
44
Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings. (9805130)
1998
45
Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome. (9409875)
1997
46
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? (8256811)
1993
47
Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. (1472358)
1992
48
Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome? (2801767)
1989
49
In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence. (6702901)
1984
50
Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis. (6590784)
1983

Genetic Variations for Microcephaly

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Expression for genes affiliated with Microcephaly

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Microcephaly

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Pathways for genes affiliated with Microcephaly

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53Reactome, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Microcephaly

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GO Terms for genes affiliated with Microcephaly

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16Gene Ontology
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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

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Sources for Microcephaly

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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
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