MCID: MCR010
MIFTS: 54

Microcephaly malady

Summaries for Microcephaly

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 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 skin, tongue and brain, and related mouse phenotypes are nervous system and cellular.

NINDS:44 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:64 Microcephaly is a neurodevelopmental disorder. It is an important neurologic sign but there is... more...

Description from OMIM:47 612703, 251200, 604321, 608393, 604804 608716 more

Aliases & Classifications for Microcephaly

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 40NCIt, 47OMIM, 57SNOMED-CT, 27ICD9CM, 35MeSH, 61UMLS
See all sources

Aliases & Descriptions:

microcephaly 8 64 43 44 10 45
microencephaly 8 43
microcephalus nos 8
microcephalus 8
micrencephaly 8


External Ids:

Disease Ontology8 DOID:10907
NCIt40 C85874
ICD9CM27 742.1
MeSH35 D008831

Related Diseases for Microcephaly

Sources:
17GeneCards, 18GeneDecks
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Diseases in the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation family:

microcephaly microcephaly with chorioretinopathy, autosomal dominant form
microcephaly with spastic quadriplegia

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

(show top 50)    (show all 720)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation31.0ASPM, MCPH1, CASK
2microcephaly, primary autosomal recessive30.7CDK5RAP2, CENPJ, ASPM, MCPH1
3primary autosomal recessive microcephaly type 130.5CDK5RAP2, MCPH1, ASPM, CENPJ
4lissencephaly30.0NDE1, TUBA1A
5micro syndrome10.8
6short stature10.5
7n syndrome10.4
8autosomal dominant microcephaly10.4
9amish lethal microcephaly10.4
10short syndrome10.3
11nijmegen breakage syndrome10.3
12congenital ichthyosis, microcephalus, quadriplegia10.3
13microcephaly-capillary malformation syndrome10.3
14microcephaly-cardiomyopathy10.3
15microcephaly - cleft palate10.3
16microphthalmia10.2
17achalasia microcephaly syndrome10.2
18cleft palate10.2
19feingold syndrome10.2
20cerebellar hypoplasia10.2
21lymphedema, microcephaly and chorioretinopathy syndrome10.2
22microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.2
23coloboma10.2
24corpus callosum agenesis10.2
25mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity10.2
26mental retardation and microcephaly with pontine and cerebellar hypoplasia10.2
27syndactyly10.1
28synostosis10.1
29microcephaly cervical spine fusion anomalies10.1
30primary autosomal recessive microcephaly type 410.1
31microcephaly-albinism-digital anomalies syndrome10.1
32anonychia total with microcephaly10.1
33extrasystoles short stature hyperpigmentation microcephaly10.1
34microcephaly, hiatal hernia and nephrotic syndrome10.1
35microcephaly deafness syndrome10.1
36microcephaly microcornea syndrome seemanova type10.1
37radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.1
38primary autosomal recessive microcephaly type 910.1
39primary autosomal recessive microcephaly type 510.1
40synostosis - microcephaly - scoliosis10.1
41renpenning syndrome10.1
42filippi syndrome10.1
43microcephaly pontocerebellar hypoplasia dyskinesia10.1
44microcephaly, epilepsy, and diabetes syndrome10.1
45rett syndrome10.0
46angelman syndrome10.0
47dubowitz syndrome10.0
48pseudo-torch syndrome10.0
49blepharophimosis10.0
50intestinal atresia10.0

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to microcephaly

Clinical Features for Microcephaly

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612703,251200,604321,608393,604804,608716

Drugs & Therapeutics for Microcephaly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Microcephaly

Sources:
33MalaCards
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MalaCards organs/tissues related to Microcephaly:

33
Skin, Tongue, Brain, Cortex, Cerebellum, Heart, Skeletal muscle, Small intestine, Thyroid, T cells, B cells, Fetal brain, Fetal thyroid

Animal Models for Microcephaly or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Microcephaly

Sources:
51PubMed
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Articles related to Microcephaly:

(show top 50)    (show all 596)
idTitleAuthorsYear
1
Inactivation of mTORC1 in the developing brain causes microcephaly and affects gliogenesis. (23637172)
2013
2
De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 a89 pter) and 14q (14q32.31 a89 qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization. (24075381)
2013
3
Congenital idiopathic microcephaly in an infant: congruence of head size with developmental motor delay. (23477466)
2013
4
Abnormal spindle-like microcephaly gene detection in an autosomal recessive microcephalic Saudi patient with attention deficit hyperactivity disorder and mental retardation. (23887221)
2013
5
The microcephaly protein Asp regulates neuroepithelium morphogenesis byA controlling theA spatial distribution of myosin II. (24142104)
2013
6
Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: A case report and review of literature. (24388699)
2013
7
Turner's syndrome with mental retardation, microcephaly and type 1 diabetes in a 6 year old child. Case report and literature review. (23612272)
2013
8
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. (22989186)
2013
9
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. (22144119)
2012
10
A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication? (23063769)
2012
11
Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be? (22772931)
2012
12
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12. (22633631)
2012
13
Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. (21834052)
2011
14
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. (21227757)
2011
15
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. (20890278)
2010
16
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. (20101680)
2010
17
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. (19161147)
2009
18
PTCH1 duplication in a family with microcephaly and mild developmental delay. (18830227)
2009
19
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation. (19772933)
2009
20
Discussion: 'Microcephaly associated with congenital heart defect' by Barbu et al. (19576365)
2009
21
Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature. (19076985)
2009
22
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. (18925673)
2008
23
Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. (18452193)
2008
24
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. (17655765)
2007
25
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. (17975804)
2007
26
Chorioretinopathy and microcephaly with normal development. (18161621)
2007
27
The microcephaly ASPM gene and schizophrenia: A preliminary study. (16631353)
2006
28
A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features. (16691627)
2006
29
Distal aphalangia, microcephaly and mental retardation. (15881564)
2005
30
Pregnancy complicated by a fetus with aneurysm of the vein of Galen and microcephaly. (16091335)
2005
31
Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: a unique expression of polytopic field defect involving possible 'paradominant' inheritance? (14994248)
2004
32
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. (15119008)
2004
33
Late onset microcephaly: failure of prenatal diagnosis. (15343612)
2004
34
Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly. (12362042)
2002
35
Methodologic issues in epidemiologic studies of congenital microcephaly. (12324187)
2002
36
Congenital microcephaly: phenotypic features in a consecutive sample of newborn infants. (11487745)
2001
37
Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly. (11326568)
2001
38
Adult Hirschsprung's disease with mental retardation and microcephaly]. (10962905)
2000
39
Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings. (10442561)
1999
40
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. (9719364)
1998
41
Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases. (9457751)
1997
42
Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia. (8929743)
1996
43
Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome. (8554361)
1995
44
Mental retardation, microcephaly and blepharochalasis in brothers. (8055132)
1994
45
Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). (8434624)
1993
46
Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome? (1316441)
1992
47
Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging. (2274488)
1990
48
Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. (2370559)
1990
49
Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. (5713646)
1968
50
Two brothers with infantilism, showing some features of progeria, associated with microcephaly, retinal degeneration and intracranial calcification. (18864720)
1948

Genetic Variations for Microcephaly

Expression for genes affiliated with Microcephaly

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
54Reactome, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Microcephaly

GO Terms for genes affiliated with Microcephaly

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet