MCID: MCR010
MIFTS: 54

Microcephaly malady

Rare diseases, Neuronal diseases categories

Summaries for Microcephaly

About this section
Sources:
44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 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:45 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:66 Microcephaly is a neurodevelopmental disorder. It is an important neurologic sign but there is... more...

Description from OMIM:48 612703, 251200, 608716, 604321, 608393 604804 more

Aliases & Classifications for Microcephaly

About this section
Sources:
9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 45NINDS, 11DISEASES, 46Novoseek, 59SNOMED-CT, 63UMLS, 48OMIM, 41NCIt, 36MeSH, 28ICD9CM
See all sources

Classifications:

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


Aliases & Descriptions:

microcephaly 9 66 44 45 11 46
microencephaly 9 44
microcephalus nos 9
microcephalus 9
micrencephaly 9


External Ids:

Disease Ontology9 DOID:10907
NCIt41 C85874
MeSH36 D008831
ICD9CM28 742.1

Related Diseases for Microcephaly

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

(show top 50)    (show all 731)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation31.0MCPH1, ASPM, CASK
2primary autosomal recessive microcephaly type 130.6ASPM, MCPH1, CENPJ, CDK5RAP2
3microcephaly, primary autosomal recessive30.4CDK5RAP2, CENPJ, ASPM, MCPH1
4intellectual disability30.3MCPH1, ASPM, CASK
5seckel syndrome30.0CEP152, CENPJ, MCPH1
6short stature10.5
7amish lethal microcephaly10.4
8autosomal dominant microcephaly10.4
9nijmegen breakage syndrome10.3
10microcephaly-capillary malformation syndrome10.3
11feingold syndrome10.3
12microcephaly-cardiomyopathy10.3
13microphthalmia10.3
14achalasia microcephaly syndrome10.3
15chorioretinitis10.3
16spasticity10.3
17congenital ichthyosis, microcephalus, quadriplegia10.2
18cataract10.2
19cerebritis10.2
20mandibulofacial dysostosis with microcephaly10.2
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
24cleft palate10.2
25cerebellar hypoplasia10.2
26mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity10.2
27syndactyly10.2
28craniosynostosis10.2
29lymphedema10.2
30retinitis10.2
31microcephaly cervical spine fusion anomalies10.2
32primary autosomal recessive microcephaly type 410.2
33coloboma10.1
34nephrotic syndrome10.1
35synostosis10.1
36anonychia total with microcephaly10.1
37extrasystoles short stature hyperpigmentation microcephaly10.1
38microcephaly microcornea syndrome seemanova type10.1
39microcephaly, hiatal hernia and nephrotic syndrome10.1
40microcephaly-albinism-digital anomalies syndrome10.1
41radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.1
42primary autosomal recessive microcephaly type 910.1
43primary autosomal recessive microcephaly type 510.1
44dysostosis10.1
45filippi syndrome10.1
46microcephaly brain defect spasticity hypernatremia10.1
47microcephaly, seizures, and developmental delay10.1
48microhydranencephaly10.1
49microcephaly, epilepsy, and diabetes syndrome10.1
50renpenning syndrome10.1

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to microcephaly

Symptoms for Microcephaly

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

612703,251200,608716,604321,608393,604804

Drugs & Therapeutics for Microcephaly

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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:
34MalaCards
See all sources

MalaCards organs/tissues related to Microcephaly:

34
Brain, Heart, Skin, Bone, Fetal brain, Eye, Cerebellum, Tongue, Thyroid, Cortex, Testes

Animal Models for Microcephaly or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Microcephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6SLC25A19, CASK, CENPJ, ASPM, MCPH1, CDK5RAP2
2MP:00053788.6SLC25A19, CDK5RAP2, CASK, CENPJ, ASPM, MCPH1
3MP:00053848.0SLC25A19, CDK5RAP2, NDE1, CASK, CENPJ, MCPH1
4MP:00036318.0CDK5RAP2, NDE1, CASK, CENPJ, ASPM, SLC25A19

Publications for Microcephaly

About this section
Sources:
53PubMed
See all sources

Articles related to Microcephaly:

(show top 50)    (show all 591)
idTitleAuthorsYear
1
Inactivation of mTORC1 in the developing brain causes microcephaly and affects gliogenesis. (23637172)
2013
2
Microcephaly genes and the evolution of sexual dimorphism in primate brain size. (23305468)
2013
3
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. (24138066)
2013
4
Severe microcephaly with polynodular heterotopia: a high-field MRI and neuropathological case study. (23663540)
2013
5
Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
2013
6
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. (23418308)
2013
7
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. (22521416)
2012
8
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. (22855649)
2012
9
Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. (21834052)
2011
10
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. (21294719)
2011
11
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. (20890278)
2010
12
Brain evolution: microcephaly genes weigh in. (20219177)
2010
13
Sex-dependent association of common variants of microcephaly genes with brain structure. (20080800)
2010
14
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. (19161147)
2009
15
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. (19764024)
2009
16
PTCH1 duplication in a family with microcephaly and mild developmental delay. (18830227)
2009
17
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome. (19373080)
2009
18
Microcephaly: a radiological review. (19437006)
2009
19
Primary microcephaly: do all roads lead to Rome? (19850369)
2009
20
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
21
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs. (18553517)
2008
22
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
23
Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. (17506097)
2007
24
Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. (18000902)
2007
25
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. (17655765)
2007
26
A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma. (16434324)
2006
27
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16. (16272165)
2006
28
Distal aphalangia, microcephaly and mental retardation. (15881564)
2005
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
Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome? (1536185)
1992
47
Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. (1472358)
1992
48
Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? (1956062)
1991
49
Microcephaly with peculiar demyelination mimicking Pelizaeus-Merzbacher disease. (562057)
1977
50
Hydrocephaly, microcephaly and anencephaly diagnosed in pregnancy by ultrasonic echography. (1196222)
1975

Variations for Microcephaly

About this section

Expression for genes affiliated with Microcephaly

About this section
Sources:
2BioGPS, 16Gene 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:
51PathCards, 56Reactome
See all sources

Compounds for genes affiliated with Microcephaly

About this section

GO Terms for genes affiliated with Microcephaly

About this section
Sources:
17Gene Ontology
See all sources

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:0007779.3CASC5, NDE1
5centrosomeGO:0058138.8CEP152, CDK5RAP2, NDE1, CEP135, CENPJ
6cytosolGO:0058297.8CASK, CASC5, NDE1, CDK5RAP2, CEP152, CEP135
7cytoplasmGO:0057377.7WDR62, MCPH1, EFTUD2, ASPM, CDK5RAP2, CASK
8nucleolusGO:0057307.5CASC5, CASK, WDR62, CEP152, EFTUD2, PNKP

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
3centrosome duplicationGO:0512989.8NDE1, CEP152
4microtubule nucleationGO:0070209.8CENPJ, NDE1
5establishment of mitotic spindle orientationGO:0001329.8CDK5RAP2, NDE1
6centriole replicationGO:0070999.6CEP135, CENPJ, CEP152
7nucleotide phosphorylationGO:0469399.3CASK, PNKP
8cerebral cortex developmentGO:0219879.3WDR62, NDE1
9mitosisGO:0070679.2ASPM, CASC5, NDE1
10G2/M transition of mitotic cell cycleGO:0000868.8CDK5RAP2, NDE1, CENPJ, CEP135, CEP152
11mitotic cell cycleGO:0002788.2CASC5, MCPH1, CENPJ, CEP135, CEP152, NDE1

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microcephaly

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet