MCID: MCR010
MIFTS: 59

Microcephaly

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Microcephaly

MalaCards integrated aliases for Microcephaly:

Name: Microcephaly 11 19 52 75 28 53 5 2 43 14 38 71 31 33
Microencephaly 11 19 75 33
Microcephalus 11 33
Congenital Microcephaly 33
Brain Nondevelopment 33
Undeveloped Cerebrum 33
Cephalic Hypoplasia 33
Undeveloped Brain 33
Brain Hypoplasia 33
Micrencephalon 33
Microcephalic 33
Micrencephaly 33
Nanocephaly 33

Classifications:



External Ids:

Disease Ontology 11 DOID:10907
ICD9CM 34 742.1
MeSH 43 D008831
NCIt 49 C85874
SNOMED-CT 68 156893009
ICD10 31 Q02
ICD11 33 179350437
UMLS 71 C0025958

Summaries for Microcephaly

NINDS: 52 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.  Microcephaly can be present at birth or it may develop in the first few years of life.  It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development.  Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol; became infected with a cytomegalovirus, rubella (German measles), varicella (chicken pox) virus, or possibly Zika virus; was exposed to certain toxic chemicals; or had untreated phenylketonuria (PKU, a harmful buildup of the amino acid phenylalanine in the blood).  Microcephaly is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes. With viral-induced brain injury, such as with the Zika virus, there is often widespread tissue and cell death leading to brain shrinkage rather than simply impaired growth.  The Zika virus is also associated with retinal lesions in about a third of cases, often leading to blindness. Depending on the severity of the accompanying syndrome, children with microcephaly may have impaired cognitive development, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities.

MalaCards based summary: Microcephaly, also known as microencephaly, is related to primary autosomal recessive microcephaly and primary microcephaly. An important gene associated with Microcephaly is ASPM (Assembly Factor For Spindle Microtubules), and among its related pathways/superpathways are Cell Cycle, Mitotic and Chromatin Regulation / Acetylation. Affiliated tissues include brain, cortex and fetal brain, and related phenotypes are growth/size/body region and nervous system

GARD: 19 Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of Microcephaly are detected at birth, while others develop in the first few years of life. Some children with Microcephaly have normal intelligence and development. However, Microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy.

CDC: 2 Microcephaly is a condition where a baby’s head is much smaller than expected. During pregnancy, a baby’s head grows because the baby’s brain grows. Microcephaly can occur because a baby’s brain has not developed properly during pregnancy or has stopped growing after birth, which results in a smaller head size. Microcephaly can be an isolated condition, meaning that it can occur with no other major birth defects, or it can occur in combination with other major birth defects.

Disease Ontology: 11 A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.

Wikipedia: 75 Microcephaly (from New Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé... more...

Related Diseases for Microcephaly

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant Microcephaly 19, Primary, Autosomal Recessive
Microcephaly 20, Primary, Autosomal Recessive Microcephaly 21, Primary, Autosomal Recessive
Microcephaly 22, Primary, Autosomal Recessive Microcephaly 23, Primary, Autosomal Recessive
Microcephaly 24, Primary, Autosomal Recessive Microcephaly 25, Primary, Autosomal Recessive
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
Microcephaly 28, Primary, Autosomal Recessive Microcephaly 29, Primary, Autosomal Recessive
Primary Autosomal Recessive Microcephaly Primary Microcephaly

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

(show top 50) (show all 1892)
# Related Disease Score Top Affiliating Genes
1 primary autosomal recessive microcephaly 33.9 RTTN MFSD2A KIF11 CDK5RAP2 ASPM ANKLE2
2 primary microcephaly 33.7 RTTN MFSD2A DYRK1A CDK5RAP2 CASK ASPM
3 microcephaly 5, primary, autosomal recessive 33.4 RTTN CDK5RAP2 ASPM ANKLE2
4 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 33.3 RTTN KIF11
5 microcephaly, autosomal dominant 33.2 KIF11 CDK5RAP2 ASPM
6 microcephaly 13, primary, autosomal recessive 33.2 MFSD2A CDK5RAP2 ASPM ANKLE2
7 microcephaly 17, primary, autosomal recessive 33.1 CDK5RAP2 ASPM ANKLE2
8 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 33.1 MFSD2A ANKLE2
9 microcephaly 14, primary, autosomal recessive 33.1 RTTN CDK5RAP2 ANKLE2
10 microcephaly 9, primary, autosomal recessive 33.0 CDK5RAP2 ASPM
11 microcephaly 16, primary, autosomal recessive 32.9 MFSD2A ANKLE2
12 microcephaly 10, primary, autosomal recessive 32.9 CDK5RAP2 ANKLE2
13 microcephaly 18, primary, autosomal dominant 32.8 ASPM ANKLE2
14 seckel syndrome 32.7 RTTN NBN CDK5RAP2 ASPM ANKLE2
15 chromosome 16p13.3 deletion syndrome, proximal 32.1 SMC1A KMT2A EP300
16 periventricular nodular heterotopia 32.1 RTTN CDK5RAP2 ASPM
17 cornelia de lange syndrome 32.1 SMC1A NBN KMT2A EP300 ATRX
18 microlissencephaly 32.0 CDK5RAP2 ASPM
19 seckel syndrome 4 31.9 CDK5RAP2 ASPM
20 hypotonia 31.6 VPS13B RTTN GRIN2B ARF3 ANKLE2
21 autism 31.5 SMC1A PQBP1 POGZ KMT2A GRIN2B DYRK1A
22 isolated growth hormone deficiency, type ia 31.4 RTTN CDK5RAP2 ASPM
23 syndromic intellectual disability 31.3 PQBP1 POGZ KMT2A GRIN2B CASK ATRX
24 west syndrome 31.3 SLC2A1 PQBP1 GRIN2B CASK
25 hypertonia 31.0 SMC1A CASK
26 familial isolated trichomegaly 30.4 VPS13B SMC1A KMT2A
27 choreatic disease 30.4 VPS13B SLC2A1 GRIN2B
28 wiedemann-steiner syndrome 30.1 SMC1A KMT2A
29 microcephaly, amish type 11.6
30 mandibulofacial dysostosis, guion-almeida type 11.6
31 microcephaly 1, primary, autosomal recessive 11.5
32 feingold syndrome 1 11.5
33 microcephaly-capillary malformation syndrome 11.5
34 nijmegen breakage syndrome 11.5
35 congenital nervous system abnormality 11.5 VPS13B SMC1A SLC2A1 RTTN PQBP1 POGZ
36 microcephaly, postnatal progressive, with seizures and brain atrophy 11.5
37 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia 11.5
38 microcephaly, seizures, and developmental delay 11.5
39 stromme syndrome 11.5
40 microcephaly 4, primary, autosomal recessive 11.4
41 achalasia-microcephaly syndrome 11.4
42 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.4
43 mehmo syndrome 11.4
44 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 11.4
45 microcephaly-deafness syndrome 11.4
46 albinism-microcephaly-digital anomalies syndrome 11.4
47 microcephaly, epilepsy, and diabetes syndrome 1 11.4
48 seizures, cortical blindness, and microcephaly syndrome 11.4
49 filippi syndrome 11.4
50 galloway-mowat syndrome 1 11.4

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to Microcephaly

Symptoms & Phenotypes for Microcephaly

MGI Mouse Phenotypes related to Microcephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 ASPM ATRX CASK CDK5RAP2 DYRK1A EP300
2 nervous system MP:0003631 10.27 ASPM ATRX CASK CDK5RAP2 DYRK1A EP300
3 cellular MP:0005384 10.21 ASPM ATRX CASK CDK5RAP2 DYRK1A EP300
4 embryo MP:0005380 10.1 ATRX DYRK1A EP300 KIF11 KMT2A MFSD2A
5 cardiovascular system MP:0005385 10.06 ANKLE2 ARF3 ATRX DYRK1A EP300 GRIN2B
6 reproductive system MP:0005389 9.96 ASPM ATRX CASK CDK5RAP2 DYRK1A KIF11
7 vision/eye MP:0005391 9.81 ANKLE2 ARF3 ATRX CASK CDK5RAP2 EP300
8 hematopoietic system MP:0005397 9.77 ASPM CDK5RAP2 DYRK1A EP300 GRIN2B KMT2A
9 mortality/aging MP:0010768 9.58 ANKLE2 ATRX CASK CDK5RAP2 DYRK1A EP300

Drugs & Therapeutics for Microcephaly

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 A Phase 1/2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients With Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene. Not yet recruiting NCT05518188 Phase 1, Phase 2
2 Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment: Cohort Study in Fiocruz/IFF Unknown status NCT03255369
3 Risk Evaluation of Fetal Nervous System and Neurodevelopment Disorders in Infants of Women Exposed to Zika Virus Infection During Pregnancy Unknown status NCT02943304
4 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
5 Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA) Completed NCT01565005
6 Efficacy of Aquatic Physiotherapy in Stress Level and Muscle Tone of Children Between 3 and 24 Months With Microcephaly by Zika Virus Congenital Syndrome Completed NCT03330600
7 Rash Accompanied by Three or More Dengue-like Symptoms During Pregnancy and Microcephaly: Case-control Study Completed NCT02741882
8 Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay Completed NCT04816175
9 Fetal and Maternal Head Circumference During Pregnancy Completed NCT02510170
10 Evaluation of Patients With Unresolved Chromosome Aberrations Completed NCT00001639
11 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
12 Guangzhou Surveillance and Clinical Study in Microcephaly Recruiting NCT03651687
13 The FBRI VTC Neuromotor Research Clinic Recruiting NCT03325946
14 Primordial Registry at Nemours/Alfred I. duPont Hospital for Children Recruiting NCT04569149
15 Microcephaly at Birth as a Potential Predictor of Poor Prognosis in Infants Weighing 500 Grams or Less: a Retrospective Cohort Study Active, not recruiting NCT05322980
16 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Active, not recruiting NCT03548779
17 Microcephaly, Fanconi Anemia and Praxial Disorders Not yet recruiting NCT04656171
18 Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia Terminated NCT03922594
19 Postnatal HCMV Infection in Very Preterm Infants. Implications on Acute and Chronic Morbidity, Growth and Neurodevelopmental Outcomes Part of the Study on "Nutrition, Growth and Development Among Very Preterm Infants". Withdrawn NCT01151462

Search NIH Clinical Center for Microcephaly

Cochrane evidence based reviews: microcephaly

Genetic Tests for Microcephaly

Genetic tests related to Microcephaly:

# Genetic test Affiliating Genes
1 Microcephaly 28

Anatomical Context for Microcephaly

Organs/tissues related to Microcephaly:

MalaCards : Brain, Cortex, Fetal Brain, Heart, Spinal Cord, Eye, Cerebellum

Publications for Microcephaly

Articles related to Microcephaly:

(show top 50) (show all 10494)
# Title Authors PMID Year
1
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. 62 5
33223528 2021
2
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. 62 5
31363758 2019
3
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. 62 5
30607023 2019
4
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. 5
33734437 2021
5
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. 5
33473208 2021
6
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. 5
34909687 2021
7
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
8
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 5
26539891 2015
9
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. 53 62
20382060 2010
10
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. 53 62
19808985 2010
11
Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. 53 62
20142466 2010
12
Many roads lead to primary autosomal recessive microcephaly. 53 62
19931588 2010
13
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. 53 62
20133615 2010
14
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. 53 62
20196394 2009
15
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. 53 62
19591936 2009
16
A novel mutation in a family with DNA ligase IV deficiency syndrome. 53 62
19418549 2009
17
Conditional inactivation of the NBS1 gene in the mouse central nervous system leads to neurodegeneration and disorganization of the visual system. 53 62
19345213 2009
18
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. 53 62
19332161 2009
19
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 53 62
19235232 2009
20
Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. 53 62
19151620 2009
21
The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. 53 62
19267414 2009
22
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation. 53 62
19090026 2009
23
Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy. 53 62
18932004 2008
24
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. 53 62
18614966 2008
25
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 53 62
18655112 2008
26
Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. 53 62
18636190 2008
27
[GLUT-1 deficiency syndrome or De Vivo disease: a case report]. 53 62
18556184 2008
28
Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency. 53 62
18228065 2008
29
Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. 53 62
18593981 2008
30
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 53 62
18513969 2008
31
Ionizing radiation downregulates ASPM, a gene responsible for microcephaly in humans. 53 62
18331833 2008
32
Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. 53 62
18203155 2008
33
Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. 53 62
17936729 2007
34
The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo. 53 62
17895362 2007
35
Comment on papers by Evans et al. and Mekel-Bobrov et al. on Evidence for Positive Selection of MCPH1 and ASPM. 53 62
17717170 2007
36
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 53 62
17406642 2007
37
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. 53 62
17276711 2007
38
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. 53 62
17489814 2007
39
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype. 53 62
17395558 2007
40
Intragenic deletion of Tgif causes defectsin brain development. 53 62
17082251 2006
41
Microcephalin: a causal link between impaired damage response signalling and microcephaly. 53 62
17102619 2006
42
What primary microcephaly can tell us about brain growth. 53 62
16829198 2006
43
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 53 62
16684786 2006
44
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 53 62
16740914 2006
45
Normal variants of Microcephalin and ASPM do not account for brain size variability. 53 62
16687438 2006
46
Flies without centrioles. 53 62
16814722 2006
47
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 53 62
16575835 2006
48
A mouse model for Glut-1 haploinsufficiency. 53 62
16497725 2006
49
Treatment with amino acids in serine deficiency disorders. 53 62
16763900 2006
50
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. 53 62
15875198 2006

Variations for Microcephaly

ClinVar genetic disease variations for Microcephaly:

5 (show top 50) (show all 506)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EP300 NM_001429.4(EP300):c.1453del (p.Gln485fs) DEL Pathogenic
813528 rs2058919680 GRCh37: 22:41527559-41527559
GRCh38: 22:41131555-41131555
2 SLC2A1 NM_006516.4(SLC2A1):c.470dup (p.Thr158fs) DUP Pathogenic
373993 rs1057518821 GRCh37: 1:43396342-43396343
GRCh38: 1:42930671-42930672
3 FLG-AS1, FLG NM_002016.2(FLG):c.544A>T (p.Lys182Ter) SNV Pathogenic
523448 rs1218912272 GRCh37: 1:152286818-152286818
GRCh38: 1:152314342-152314342
4 overlap with 25 genes GRCh37/hg19 7q11.23(chr7:72772522-74133319) CN LOSS Pathogenic
523284 GRCh37: 7:72772522-74133319
GRCh38:
5 KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) SNV Pathogenic
7462 rs137853066 GRCh37: 1:160012129-160012129
GRCh38: 1:160042339-160042339
6 CDK5RAP2 NM_018249.6(CDK5RAP2):c.250C>T (p.Leu84Phe) SNV Pathogenic
812994 rs1588634016 GRCh37: 9:123313126-123313126
GRCh38: 9:120550848-120550848
7 DDX3X NM_001356.5(DDX3X):c.1746del (p.Ser583fs) DEL Pathogenic
870099 rs2063933817 GRCh37: X:41206242-41206242
GRCh38: X:41346989-41346989
8 GRM7 NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys) SNV Pathogenic
870348 rs1697820592 GRCh37: 3:7494299-7494299
GRCh38: 3:7452612-7452612
9 TCF4 NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter) SNV Pathogenic
813521 rs1555710223 GRCh37: 18:52896144-52896144
GRCh38: 18:55228913-55228913
10 ASXL1 NM_015338.6(ASXL1):c.3115C>T (p.Gln1039Ter) SNV Pathogenic
813522 rs1221031683 GRCh37: 20:31023630-31023630
GRCh38: 20:32435827-32435827
11 AUTS2 GRCh37/hg19 7q11.22(chr7:69404786-70206198) CN LOSS Pathogenic
813714 GRCh37: 7:69404786-70206198
GRCh38:
12 overlap with 4 genes GRCh37/hg19 2q24.3(chr2:166340583-166904859) CN LOSS Pathogenic
813715 GRCh37: 2:166340583-166904859
GRCh38:
13 overlap with 90 genes GRCh37/hg19 9q34.3(chr9:138225001-141015001) CN LOSS Pathogenic
813716 GRCh37: 9:138225001-141015001
GRCh38:
14 ARID1B GRCh37/hg19 6q25.3(chr6:157075546-157443054) CN GAIN Pathogenic
813718 GRCh37: 6:157075546-157443054
GRCh38:
15 overlap with 8 genes GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) CN LOSS Pathogenic
813719 GRCh37: X:41150139-43976458
GRCh38:
16 overlap with 2 genes GRCh37/hg19 2q23.1(chr2:148710290-149021799) CN LOSS Pathogenic
813720 GRCh37: 2:148710290-149021799
GRCh38:
17 KMT2A NM_001197104.2(KMT2A):c.2552_2553del (p.Lys851fs) DEL Pathogenic
813524 rs1949984655 GRCh37: 11:118344425-118344426
GRCh38: 11:118473710-118473711
18 NUF2 NM_145697.3(NUF2):c.371T>G (p.Ile124Ser) SNV Pathogenic
992629 rs1650773164 GRCh37: 1:163306574-163306574
GRCh38: 1:163336784-163336784
19 overlap with 15 genes GRCh37/hg19 5q31.2(chr5:136409875-137739167) CN LOSS Pathogenic
1047869 GRCh37: 5:136409875-137739167
GRCh38:
20 overlap with 37 genes GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694) CN LOSS Pathogenic
1047873 GRCh37: 7:116297277-126370694
GRCh38:
21 overlap with 33 genes GRCh37/hg19 1q43-44(chr1:240554955-247342593) CN LOSS Pathogenic
1047876 GRCh37: 1:240554955-247342593
GRCh38:
22 overlap with 6 genes GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936) CN LOSS Pathogenic
1047878 GRCh37: X:41342834-43901936
GRCh38:
23 CASK and overlap with 2 gene(s) GRCh37/hg19 Xp11.4(chrX:41553564-41696352) CN LOSS Pathogenic
1047884 GRCh37: X:41553564-41696352
GRCh38:
24 overlap with 16 genes GRCh37/hg19 12p13.32(chr12:3619010-5221363) CN LOSS Pathogenic
1047901 GRCh37: 12:3619010-5221363
GRCh38:
25 ASPM NM_018136.5(ASPM):c.727C>T (p.Arg243Ter) SNV Pathogenic
1172591 GRCh37: 1:197112655-197112655
GRCh38: 1:197143525-197143525
26 ABL1 NM_005157.6(ABL1):c.1517T>C (p.Val506Ala) SNV Pathogenic
983212 rs1831432776 GRCh37: 9:133755890-133755890
GRCh38: 9:130880503-130880503
27 KIF11 NM_004523.4(KIF11):c.2922G>T (p.Pro974=) SNV Pathogenic
1064447 GRCh37: 10:94409743-94409743
GRCh38: 10:92649986-92649986
28 overlap with 65 genes GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 CN GAIN Pathogenic
1330165 GRCh37: 3:142729607-157921084
GRCh38:
29 PPFIBP1 NM_003622.4(PPFIBP1):c.1146+1G>A SNV Pathogenic
1679175 GRCh37: 12:27820254-27820254
GRCh38: 12:27667321-27667321
30 PPFIBP1 NM_003622.4(PPFIBP1):c.1417_1427del (p.Ala473fs) DEL Pathogenic
1679181 GRCh37: 12:27829363-27829373
GRCh38: 12:27676430-27676440
31 PPFIBP1 NM_003622.4(PPFIBP1):c.1300C>T (p.Gln434Ter) SNV Pathogenic
1679182 GRCh37: 12:27825397-27825397
GRCh38: 12:27672464-27672464
32 PPFIBP1 NM_003622.4(PPFIBP1):c.2629C>T (p.Arg877Ter) SNV Pathogenic
1679183 GRCh37: 12:27842080-27842080
GRCh38: 12:27689147-27689147
33 COL7A1 NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) SNV Pathogenic
17462 rs121912854 GRCh37: 3:48630348-48630348
GRCh38: 3:48592915-48592915
34 LAMA2 DEL Pathogenic
1684643 GRCh37:
GRCh38: 6:128960376-129175759
35 SMARCAL1 NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) SNV Pathogenic
374208 rs748106387 GRCh37: 2:217280150-217280150
GRCh38: 2:216415427-216415427
36 SMARCAL1 NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) SNV Pathogenic
4171 rs119473033 GRCh37: 2:217342939-217342939
GRCh38: 2:216478216-216478216
37 KMT2D NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) SNV Pathogenic
813529 rs1943461045 GRCh37: 12:49434325-49434325
GRCh38: 12:49040542-49040542
38 WDR11 NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter) SNV Pathogenic
1098849 GRCh37: 10:122626642-122626642
GRCh38: 10:120867130-120867130
39 WDR11 NM_018117.12(WDR11):c.2931+1G>A SNV Pathogenic
1098850 GRCh37: 10:122662745-122662745
GRCh38: 10:120903233-120903233
40 WDR11 NM_018117.12(WDR11):c.1439del (p.Asn480fs) DEL Pathogenic
1098851 GRCh37: 10:122630821-122630821
GRCh38: 10:120871309-120871309
41 WDR11 NM_018117.12(WDR11):c.3033_3036del MICROSAT Pathogenic
1098852 GRCh37: 10:122664156-122664159
GRCh38: 10:120904644-120904647
42 SMC1A NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) MICROSAT Pathogenic
180197 rs727503773 GRCh37: X:53439900-53439902
GRCh38: X:53412950-53412952
43 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) DEL Pathogenic
523556 rs1554034812 GRCh37: 5:37059040-37059040
GRCh38: 5:37058938-37058938
44 HDAC8 NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) SNV Pathogenic
280793 rs886041936 GRCh37: X:71715060-71715060
GRCh38: X:72495210-72495210
45 TAF8 NM_138572.3(TAF8):c.781-1G>A SNV Pathogenic
638647 rs371261267 GRCh37: 6:42044837-42044837
GRCh38: 6:42077099-42077099
46 COL7A1 NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) SNV Pathogenic
17463 rs121912855 GRCh37: 3:48612651-48612651
GRCh38: 3:48575218-48575218
47 NSRP1 NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs) DEL Pathogenic
1047905 GRCh37: 17:28512372-28512375
GRCh38: 17:30185354-30185357
48 NSRP1 NM_032141.4(NSRP1):c.1272dup (p.Lys425fs) DUP Pathogenic
1047906 GRCh37: 17:28512285-28512286
GRCh38: 17:30185267-30185268
49 NSRP1 NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter) SNV Pathogenic
1047907 GRCh37: 17:28445129-28445129
GRCh38: 17:30118111-30118111
50 RTTN NM_173630.4(RTTN):c.4444dup (p.Tyr1482fs) DUP Pathogenic
1363003 GRCh37: 18:67742707-67742708
GRCh38: 18:70075471-70075472

Copy number variations for Microcephaly from CNVD:

6 (show all 13)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 81039 14 100400000 106368585 Deletion Microcephaly
2 101488 16 3862993 3941884 Deletion Microcephaly
3 137586 2 148400000 149600000 Deletion EPC2 Microcephaly
4 137590 2 148400000 149600000 Deletion MBD5 Microcephaly
5 146788 2 54800000 61100000 Copy number VRK2 Microcephaly
6 161495 22 19062809 19791607 Deletion Microcephaly
7 172044 3 175774661 175941767 Deletion NAALADL2 Microcephaly
8 172047 3 175774661 175941767 Deletion NLGN1 Microcephaly
9 204538 6 111807663 121697293 Deletion Microcephaly
10 207180 6 152600000 160900000 Deletion Microcephaly
11 249285 9 139496489 139830424 Deletion Microcephaly
12 256675 9 95600000 98200000 Duplication PTCH1 Microcephaly
13 262843 X 41374190 41782287 Copy number CASK Microcephaly

Expression for Microcephaly

Search GEO for disease gene expression data for Microcephaly.

Pathways for Microcephaly

Pathways related to Microcephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 SMC1A NBN EP300 DYRK1A CDK5RAP2 ATRX
2 11.66 SMC1A KMT2A EP300 ATRX
3 10.59 SMC1A EP300 ATRX
4 10.2 SMC1A NBN

GO Terms for Microcephaly

Cellular components related to Microcephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle pole GO:0000922 9.5 SBDS KIF11 CDK5RAP2 ASPM
2 mitotic spindle pole GO:0097431 9.1 SMC1A CDK5RAP2 ASPM

Biological processes related to Microcephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.23 SMC1A POGZ NBN KIF11 EP300 ASPM

Sources for Microcephaly

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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