MCID: MCR010
MIFTS: 53

Microcephaly malady

Rare diseases, Neuronal diseases categories
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Summaries for Microcephaly

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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 based summary: Microcephaly, also known as microencephaly, is related to mental retardation and primary autosomal recessive microcephaly type 1. An important gene associated with Microcephaly is ASPM (asp (abnormal spindle) homolog, microcephaly associated (Drosophila)), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include brain, heart and skin, and related mouse phenotypes are craniofacial and growth/size/body.

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

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

Aliases & Classifications for Microcephaly

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Microcephaly, Aliases & Descriptions:

Name: Microcephaly 8 65 42 43 10 44
Microencephaly 8 42
 
Microcephalus 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


External Ids:

Disease Ontology8 DOID:10907
MeSH34 D008831
NCIt39 C85874
ICD9CM27 742.1

Related Diseases for Microcephaly

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

(show top 50)    (show all 742)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation31.1CASK, ASPM, MCPH1
2primary autosomal recessive microcephaly type 130.7MCPH1, ASPM, CENPJ, CDK5RAP2
3microcephaly, primary autosomal recessive30.7MCPH1, ASPM, CENPJ, CDK5RAP2
4seckel syndrome30.2CEP152, CENPJ, MCPH1
5ohtahara syndrome29.7PNKP
6short stature10.5
7amish lethal microcephaly10.5
8autosomal dominant microcephaly10.4
9microcephaly-capillary malformation syndrome10.4
10mandibulofacial dysostosis with microcephaly10.4
11nijmegen breakage syndrome10.3
12microcephaly-cardiomyopathy10.3
13feingold syndrome10.3
14achalasia microcephaly syndrome10.3
15chorioretinitis10.3
16microphthalmia10.3
17spasticity10.3
18congenital ichthyosis, microcephalus, quadriplegia10.3
19cataract10.3
20cerebritis10.3
21lymphedema, microcephaly and chorioretinopathy syndrome10.2
22microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.2
23mental retardation and microcephaly with pontine and cerebellar hypoplasia10.2
24lymphedema10.2
25cleft palate10.2
26retinitis10.2
27cerebellar hypoplasia10.2
28mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity10.2
29craniosynostosis10.2
30syndactyly10.2
31synostosis10.2
32cataract-microcephaly-failure to thrive-kyphoscoliosis10.2
33microcephaly cervical spine fusion anomalies10.2
34microcephaly, hiatal hernia and nephrotic syndrome10.2
35microcephaly, seizures, and developmental delay10.2
36coloboma10.2
37dysostosis10.2
38nephrotic syndrome10.2
39anonychia total with microcephaly10.2
40extrasystoles short stature hyperpigmentation microcephaly10.2
41microcephaly microcornea syndrome seemanova type10.2
42microcephaly-albinism-digital anomalies syndrome10.2
43radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.2
44primary autosomal recessive microcephaly type 910.2
45primary autosomal recessive microcephaly type 410.2
46blepharophimosis10.1
47alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus10.1
48filippi syndrome10.1
49microcephaly brain defect spasticity hypernatremia10.1
50microhydranencephaly10.1

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to microcephaly

Symptoms for Microcephaly

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Clinical features from OMIM:

608716,604321,251200,612703,604804,608393

Drugs & Therapeutics for Microcephaly

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Drug clinical trials:

Search ClinicalTrials for Microcephaly

Search NIH Clinical Center for Microcephaly

Genetic Tests for Microcephaly

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Anatomical Context for Microcephaly

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MalaCards organs/tissues related to Microcephaly:

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

Animal Models for Microcephaly or affiliated genes

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MGI Mouse Phenotypes related to Microcephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6SLC25A19, CDK5RAP2, CASK, CENPJ, ASPM, MCPH1
2MP:00053788.6SLC25A19, CDK5RAP2, CASK, CENPJ, ASPM, MCPH1
3MP:00053848.0MCPH1, CENPJ, CASK, NDE1, CDK5RAP2, SLC25A19
4MP:00036318.0MCPH1, ASPM, CENPJ, CASK, NDE1, CDK5RAP2

Publications for Microcephaly

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Articles related to Microcephaly:

(show top 50)    (show all 608)
idTitleAuthorsYear
1
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (24725350)
2014
2
Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence: a fourth patient with parental consanguinity and additional feature of massive cerebral thrombosis. (25304118)
2014
3
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. (24530477)
2014
4
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. (25227173)
2014
5
Inactivation of mTORC1 in the developing brain causes microcephaly and affects gliogenesis. (23637172)
2013
6
Microcephaly genes and the evolution of sexual dimorphism in primate brain size. (23305468)
2013
7
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. (24138066)
2013
8
Severe microcephaly with polynodular heterotopia: a high-field MRI and neuropathological case study. (23663540)
2013
9
Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
2013
10
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. (22521416)
2012
11
Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. (21834052)
2011
12
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. (21294719)
2011
13
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. (20890278)
2010
14
Brain evolution: microcephaly genes weigh in. (20219177)
2010
15
Sex-dependent association of common variants of microcephaly genes with brain structure. (20080800)
2010
16
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. (19764024)
2009
17
PTCH1 duplication in a family with microcephaly and mild developmental delay. (18830227)
2009
18
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome. (19373080)
2009
19
Microcephaly: a radiological review. (19437006)
2009
20
Primary microcephaly: do all roads lead to Rome? (19850369)
2009
21
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis. (18053786)
2008
22
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs. (18553517)
2008
23
Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. (18636190)
2008
24
Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. (17506097)
2007
25
Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. (18000902)
2007
26
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly. (17849285)
2007
27
A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma. (16434324)
2006
28
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16. (16272165)
2006
29
Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: a unique expression of polytopic field defect involving possible 'paradominant' inheritance? (14994248)
2004
30
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome. (14691719)
2004
31
A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. (14997185)
2004
32
Pyridoxine-dependent seizures and microcephaly. (15351022)
2004
33
Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1. (14641475)
2003
34
Value of electrodiagnostic assessment in nonsyndromic microcephaly. (14620175)
2003
35
Congenital microcephaly in two infants with the factor V Leiden mutation. (12593464)
2002
36
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. (12362027)
2002
37
Pyridostigmine-induced microcephaly. (11402134)
2001
38
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. (11525887)
2001
39
The second unrelated case with isolated microcephaly and normal intelligence (microcephalia vera) (10826634)
2000
40
Microcephaly and macrocephaly in autism. (10382131)
1999
41
MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. (9781023)
1998
42
Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. (9602489)
1998
43
Atelencephalic microcephaly: a case report and review of the literature. (9667407)
1998
44
Abnormal development of serotonin nerve fibers in the visual cortex in rats with methylazoxymethanol-induced microcephaly. (9452817)
1998
45
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. (7717420)
1995
46
Mandibulofacial Dysostosis with Microcephaly (24999515)
1993
47
Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome? (1536185)
1992
48
Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. (1472358)
1992
49
Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? (1956062)
1991
50
Microcephaly with peculiar demyelination mimicking Pelizaeus-Merzbacher disease. (562057)
1977

Variations for Microcephaly

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Expression for genes affiliated with Microcephaly

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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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Compounds for genes affiliated with Microcephaly

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GO Terms for genes affiliated with Microcephaly

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Cellular components related to Microcephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:0058149.8CEP135, CENPJ
2spindle poleGO:0009229.7ASPM, WDR62, CDK5RAP2
3microtubuleGO:0058749.4CDK5RAP2, NDE1, CENPJ
4condensed chromosome kinetochoreGO:0007779.3NDE1, CASC5
5centrosomeGO:0058138.8CDK5RAP2, NDE1, CEP152, CEP135, CENPJ
6cytosolGO:0058297.8CENPJ, CEP135, CEP152, CASK, CASC5, NDE1
7cytoplasmGO:0057377.7MCPH1, EFTUD2, ASPM, WDR62, CASK, CASC5
8nucleolusGO:0057307.5PNKP, EFTUD2, CEP152, WDR62, CASK, CASC5

Biological processes related to Microcephaly according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron differentiationGO:0456659.9CDK5RAP2, ASPM
2neurogenesisGO:0220089.8WDR62, CDK5RAP2
3microtubule nucleationGO:0070209.8NDE1, CENPJ
4establishment of mitotic spindle orientationGO:0001329.8CDK5RAP2, NDE1
5centrosome duplicationGO:0512989.7NDE1, CEP152
6centriole replicationGO:0070999.6CEP152, CEP135, CENPJ
7nucleotide phosphorylationGO:0469399.3PNKP, CASK
8cerebral cortex developmentGO:0219879.3NDE1, WDR62
9mitosisGO:0070679.2NDE1, CASC5, ASPM
10G2/M transition of mitotic cell cycleGO:0000868.8CENPJ, CEP135, CEP152, NDE1, CDK5RAP2
11mitotic cell cycleGO:0002788.2CDK5RAP2, NDE1, CASC5, CEP152, CEP135, CENPJ

Molecular functions related to Microcephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tubulin bindingGO:0156319.6CDK5RAP2, CENPJ
2protein kinase bindingGO:0199019.6CDK5RAP2, CEP152, CENPJ
3calmodulin bindingGO:0055169.3ASPM, CASK, CDK5RAP2
4protein bindingGO:0055156.0CDK5RAP2, PNKP, MCPH1, EFTUD2, CENPJ, CEP135

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
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet