Details of Disease

General Information of Disease (ID: DIS2GRD8)

Disease Name Microcephaly
Synonyms microencephaly; microcephaly (disease); microcephaly; microcephalus
Definition A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DIS372XH: Neurodevelopmental disorder
DIS2GRD8: Microcephaly
Disease Identifiers
MONDO ID
MONDO_0001149
UMLS CUI
C4551563
MedGen ID
1644158
HPO ID
HP:0000252
SNOMED CT ID
1148757008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AKT3 TTAZ05C Limited Autosomal dominant [1]
ABL1 TT6B75U Strong CausalMutation [2]
DYRK1A TTSBVFO Strong CausalMutation [3]
HDAC8 TTT6LFV Strong Genetic Variation [4]
KAT6A TT6O1J0 Strong CausalMutation [5]
KIF11 TTBGTCW Strong CausalMutation [6]
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⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 26 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AKT3 OT5M2LFI Limited Autosomal dominant [1]
SPDL1 OTI0JNTM Limited Autosomal recessive [7]
TTI1 OT2NQT6S Limited Autosomal recessive [7]
LMNB2 OTXRDUOS Moderate Autosomal dominant [8]
AP4B1 OTGJUIRA Strong CausalMutation [9]
ASPM OTKXQMNA Strong Genetic Variation [10]
BPTF OTD1RZAD Strong Genetic Variation [11]
CAMK2B OTS9YK3E Strong CausalMutation [12]
CNTNAP1 OT5Y03EU Strong Genetic Variation [13]
DEAF1 OTCLX3ZW Strong Genetic Variation [14]
EXOC6B OTFI1IPG Strong Genetic Variation [15]
FOXG1 OTAW57J4 Strong Genetic Variation [4]
ISCA1 OTU230MC Strong CausalMutation [16]
LMNB1 OT100T3P Strong Autosomal dominant [8]
LZTR1 OTIDM6XO Strong CausalMutation [17]
MGME1 OTC5LPXX Strong CausalMutation [18]
NIPBL OTF6OOLU Strong CausalMutation [4]
OVOL2 OTFM1GKF Strong CausalMutation [18]
PEX5 OTK4LMG7 Strong CausalMutation [19]
POC1B OTDIMIRZ Strong CausalMutation [20]
RAD21 OTQS84ZF Strong Genetic Variation [21]
RALA OT734R7X Strong CausalMutation [22]
STX7 OTHW3GEI Strong Genetic Variation [23]
TANGO2 OTT9UI89 Strong CausalMutation [24]
TMEM67 OTME92T5 Strong Genetic Variation [25]
TMEM87B OTXT7BCU Strong Genetic Variation [26]
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⏷ Show the Full List of 26 DOT(s)

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr;49(4):613-617. doi: 10.1038/ng.3815. Epub 2017 Mar 13.
3 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6.
4 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.
5 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.Am J Hum Genet. 2015 Mar 5;96(3):507-13. doi: 10.1016/j.ajhg.2015.01.016. Epub 2015 Feb 26.
6 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.Am J Med Genet A. 2014 Nov;164A(11):2879-86. doi: 10.1002/ajmg.a.36707. Epub 2014 Aug 12.
7 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
8 Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. Genet Med. 2021 Feb;23(2):408-414. doi: 10.1038/s41436-020-00980-3. Epub 2020 Oct 9.
9 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0.
10 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.
11 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.
12 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.
13 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3.
14 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.Hum Mutat. 2017 Dec;38(12):1774-1785. doi: 10.1002/humu.23339. Epub 2017 Sep 23.
15 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.Am J Med Genet A. 2014 Dec;164A(12):3088-94. doi: 10.1002/ajmg.a.36770. Epub 2014 Sep 24.
16 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.
17 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.
18 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.Eur J Med Genet. 2017 Oct;60(10):533-535. doi: 10.1016/j.ejmg.2017.07.010. Epub 2017 Jul 12.
19 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28.
20 Novel recessive cone-rod dystrophy caused by POC1B mutation.JAMA Ophthalmol. 2014 Oct;132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658.
21 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. Eur J Med Genet. 2019 Jun;62(6):103526. doi: 10.1016/j.ejmg.2018.08.007. Epub 2018 Aug 17.
22 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov.
23 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23.
24 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21.
25 Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26.
26 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000844. doi: 10.1101/mcs.a000844.