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Microcephaly

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Microcephaly

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MalaCards integrated aliases for Microcephaly:

Name: Microcephaly 12 74 20 53 29 54 6 3 44 15 39 71 32
Microencephaly 12 74 20
Microcephaly Syndrome 36
Microcephalus 12

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:10907
KEGG 36 H02132
ICD9CM 34 742.1
MeSH 44 D008831
NCIt 50 C85874
SNOMED-CT 67 156893009
ICD10 32 Q02
UMLS 71 C0025958
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Summaries for Microcephaly

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NINDS : 53 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 mental retardation and microcephaly with pontine and cerebellar hypoplasia and microcephaly 17, primary, autosomal recessive. An important gene associated with Microcephaly is PQBP1 (Polyglutamine Binding Protein 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Validated targets of C-MYC transcriptional activation. Affiliated tissues include brain, cortex and fetal brain, and related phenotypes are growth/size/body region and behavior/neurological

Disease Ontology : 12 A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.

GARD : 20 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. Although there is no treatment for microcephaly, early intervention may help enhance development and improve quality of life.

CDC : 3 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.

KEGG : 36 Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly syndrome. To date, a large number of microcephaly syndromes has been reported.

Wikipedia : 74 Microcephaly (from New Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé... more...

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Related Diseases for Microcephaly

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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
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 1452)
# Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 33.3 TSEN54 POGZ EXOSC3
2 microcephaly 17, primary, autosomal recessive 33.1 MFSD2A CDK5RAP2 ANKLE2
3 alacrima, achalasia, and mental retardation syndrome 33.1 VPS13B TSEN54 TCF4 SVBP SLC2A1 POGZ
4 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 33.1 MFSD2A ANKLE2
5 microcephaly 13, primary, autosomal recessive 32.9 MFSD2A ANKLE2
6 microcephaly 16, primary, autosomal recessive 32.9 MFSD2A ANKLE2
7 cornelia de lange syndrome 32.2 SMC1A POGZ MBD5 KMT2A EP300 ATRX
8 pitt-hopkins syndrome 32.2 TCF4 SMC1A MBD5
9 chromosome 16p13.3 deletion syndrome, proximal 32.0 SMC1A KMT2A EP300
10 disease of mental health 31.7 VPS13B TSEN54 TCF4 SVBP SMC1A SLC2A1
11 syndromic intellectual disability 31.2 PQBP1 POGZ DYRK1A ATRX
12 autism 31.1 TCF4 POGZ MBD5 KMT2A GRIN2B DYRK1A
13 hypertonia 30.8 TSEN54 SMC1A
14 early infantile epileptic encephalopathy 30.7 SLC2A1 MBD5 GRIN2B EP300
15 familial isolated trichomegaly 30.1 SMC1A KMT2A
16 wiedemann-steiner syndrome 30.1 SMC1A KMT2A
17 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.6
18 mandibulofacial dysostosis, guion-almeida type 11.6
19 primary autosomal recessive microcephaly 11.6
20 microcephaly, amish type 11.6
21 microcephaly 1, primary, autosomal recessive 11.5
22 feingold syndrome 1 11.5
23 microcephaly-capillary malformation syndrome 11.5
24 nijmegen breakage syndrome 11.5
25 microcephaly, seizures, and developmental delay 11.5
26 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.4
27 microcephaly, postnatal progressive, with seizures and brain atrophy 11.4
28 microcephaly, autosomal dominant 11.4
29 microcephaly 5, primary, autosomal recessive 11.4
30 primary microcephaly 11.4
31 microcephaly 4, primary, autosomal recessive 11.4
32 microcephaly 9, primary, autosomal recessive 11.4
33 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.4
34 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.4
35 stromme syndrome 11.4
36 achalasia-microcephaly syndrome 11.4
37 microcephaly 10, primary, autosomal recessive 11.4
38 filippi syndrome 11.4
39 mehmo syndrome 11.4
40 microcephaly 6, primary, autosomal recessive 11.4
41 microcephaly and chorioretinopathy, autosomal recessive, 1 11.4
42 microcephaly 3, primary, autosomal recessive 11.4
43 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 11.4
44 microcephaly 7, primary, autosomal recessive 11.3
45 microcephaly, epilepsy, and diabetes syndrome 11.3
46 microcephaly-micromelia syndrome 11.3
47 galloway-mowat syndrome 11.3
48 albinism-microcephaly-digital anomalies syndrome 11.3
49 microcephaly, short stature, and impaired glucose metabolism 1 11.3
50 microcephaly 8, primary, autosomal recessive 11.3

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to Microcephaly
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Symptoms & Phenotypes for Microcephaly

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MGI Mouse Phenotypes related to Microcephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 ATRX CDK5RAP2 DYRK1A EP300 EXOSC3 GRIN2B
2 behavior/neurological MP:0005386 10.21 ANKLE2 ATRX DYRK1A GRIN2B KMT2A MBD5
3 cellular MP:0005384 10.18 ATRX CDK5RAP2 DYRK1A EP300 KMT2A MFSD2A
4 cardiovascular system MP:0005385 10.1 ANKLE2 ATRX DYRK1A EP300 EXOSC3 KMT2A
5 hematopoietic system MP:0005397 10 CDK5RAP2 DYRK1A EP300 KMT2A MBD5 MFSD2A
6 mortality/aging MP:0010768 9.93 ANKLE2 ATRX CDK5RAP2 DYRK1A EP300 EXOSC3
7 immune system MP:0005387 9.9 CDK5RAP2 DYRK1A EP300 KMT2A MBD5 MFSD2A
8 nervous system MP:0003631 9.4 ATRX CDK5RAP2 DYRK1A EP300 GRIN2B KMT2A
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Drugs & Therapeutics for Microcephaly

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Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Études Observationnelles Des conséquences néonatales et pédiatriques de l'Infection à Virus Zika au Cours de la Grossesse Pendant l'épidémie Des départements français d'Amérique de l'année 2016 Unknown status NCT02810210
2 Études Observationnelles Des conséquences de l'Infection à Virus Zika au Cours de la Grossesse Pendant l'épidémie Des départements français d'Amérique de l'année 2016 Unknown status NCT02916732
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 Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment: Cohort Study in Fiocruz/IFF Unknown status NCT03255369
5 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
6 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
7 Rash Accompanied by Three or More Dengue-like Symptoms During Pregnancy and Microcephaly: Case-control Study Completed NCT02741882
8 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
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 Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia Recruiting NCT03922594
13 Guangzhou Surveillance and Clinical Study in Microcephaly Recruiting NCT03651687
14 Primordial Registry at Nemours/Alfred I. duPont Hospital for Children Recruiting NCT04569149
15 The FBRI VTC Neuromotor Research Clinic Recruiting NCT03325946
16 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Enrolling by invitation NCT03548779
17 Microcephaly, Fanconi Anemia and Praxial Disorders Not yet recruiting NCT04656171
18 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

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Genetic Tests for Microcephaly

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Genetic tests related to Microcephaly:

# Genetic test Affiliating Genes
1 Microcephaly 29
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Anatomical Context for Microcephaly

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MalaCards organs/tissues related to Microcephaly:

40
Brain, Cortex, Fetal Brain, Skin, Eye, Cerebellum, Breast
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Publications for Microcephaly

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Articles related to Microcephaly:

(show top 50) (show all 8743)
# Title Authors PMID Year
1
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 6
26539891 2015
2
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. 61 54
19808985 2010
3
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. 54 61
20382060 2010
4
Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. 61 54
20142466 2010
5
Many roads lead to primary autosomal recessive microcephaly. 54 61
19931588 2010
6
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. 54 61
20133615 2010
7
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. 61 54
20196394 2009
8
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. 54 61
19591936 2009
9
A novel mutation in a family with DNA ligase IV deficiency syndrome. 54 61
19418549 2009
10
Conditional inactivation of the NBS1 gene in the mouse central nervous system leads to neurodegeneration and disorganization of the visual system. 54 61
19345213 2009
11
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. 54 61
19332161 2009
12
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 54 61
19235232 2009
13
Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. 54 61
19151620 2009
14
The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. 61 54
19267414 2009
15
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation. 54 61
19090026 2009
16
Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy. 61 54
18932004 2008
17
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. 61 54
18614966 2008
18
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 54 61
18655112 2008
19
Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. 61 54
18636190 2008
20
[GLUT-1 deficiency syndrome or De Vivo disease: a case report]. 54 61
18556184 2008
21
Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency. 61 54
18228065 2008
22
Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. 61 54
18593981 2008
23
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 61 54
18513969 2008
24
Ionizing radiation downregulates ASPM, a gene responsible for microcephaly in humans. 61 54
18331833 2008
25
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. 61 54
18203155 2008
26
Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. 54 61
17936729 2007
27
The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo. 61 54
17895362 2007
28
Comment on papers by Evans et al. and Mekel-Bobrov et al. on Evidence for Positive Selection of MCPH1 and ASPM. 61 54
17717170 2007
29
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 61 54
17406642 2007
30
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. 54 61
17276711 2007
31
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. 54 61
17489814 2007
32
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype. 61 54
17395558 2007
33
Intragenic deletion of Tgif causes defectsin brain development. 61 54
17082251 2006
34
Microcephalin: a causal link between impaired damage response signalling and microcephaly. 54 61
17102619 2006
35
What primary microcephaly can tell us about brain growth. 61 54
16829198 2006
36
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 54 61
16684786 2006
37
Normal variants of Microcephalin and ASPM do not account for brain size variability. 54 61
16687438 2006
38
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 54 61
16740914 2006
39
Flies without centrioles. 61 54
16814722 2006
40
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 54 61
16575835 2006
41
Treatment with amino acids in serine deficiency disorders. 54 61
16763900 2006
42
A mouse model for Glut-1 haploinsufficiency. 61 54
16497725 2006
43
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. 61 54
15875198 2006
44
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 54 61
16415040 2006
45
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. 61 54
16149086 2006
46
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. 61 54
16358361 2006
47
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. 61 54
16211557 2005
48
BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. 54 61
16217032 2005
49
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 61 54
16088910 2005
50
Periventricular heterotopia. 61 54
15996530 2005
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Variations for Microcephaly

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ClinVar genetic disease variations for Microcephaly:

6 (show top 50) (show all 439)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KMT2D NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) SNV Pathogenic 813529 12:49434325-49434325 12:49040542-49040542
2 ARID1B GRCh37/hg19 6q25.3(chr6:157075546-157443054) copy number gain Pathogenic 813718 6:157075546-157443054
3 STXBP1 NM_003165.4(STXBP1):c.733C>G (p.His245Asp) SNV Pathogenic 523457 rs1554777480 9:130428514-130428514 9:127666235-127666235
4 TCF4 NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter) SNV Pathogenic 813521 18:52896144-52896144 18:55228913-55228913
5 ASXL1 NM_015338.6(ASXL1):c.3115C>T (p.Gln1039Ter) SNV Pathogenic 813522 20:31023630-31023630 20:32435827-32435827
6 KMT2A NM_001197104.2(KMT2A):c.2552_2553del (p.Lys851fs) Deletion Pathogenic 813524 11:118344425-118344426 11:118473710-118473711
7 CDK5RAP2 NM_018249.6(CDK5RAP2):c.250C>T (p.Leu84Phe) SNV Pathogenic 812994 rs1588634016 9:123313126-123313126 9:120550848-120550848
8 TUBB4A NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) SNV Pathogenic 267792 rs797045074 19:6495346-6495346 19:6495335-6495335
9 DDX3X NM_001356.5(DDX3X):c.1746del (p.Ser583fs) Deletion Pathogenic 870099 X:41206242-41206242 X:41346989-41346989
10 GRM7 NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys) SNV Pathogenic 870348 3:7494299-7494299 3:7452612-7452612
11 TAF8 NM_138572.3(TAF8):c.781-1G>A SNV Pathogenic 638647 rs371261267 6:42044837-42044837 6:42077099-42077099
12 AUTS2 GRCh37/hg19 7q11.22(chr7:69404786-70206198) copy number loss Pathogenic 813714 7:69404786-70206198
13 CSRNP3 GRCh37/hg19 2q24.3(chr2:166340583-166904859) copy number loss Pathogenic 813715 2:166340583-166904859
14 MBD5 GRCh37/hg19 2q23.1(chr2:148710290-149021799) copy number loss Pathogenic 813720 2:148710290-149021799
15 AGPAT2 GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Pathogenic 813716 9:138225001-141015001
16 NUF2 NM_145697.3(NUF2):c.371T>G (p.Ile124Ser) SNV Pathogenic 992629 1:163306574-163306574 1:163336784-163336784
17 PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) SNV Pathogenic 217458 rs863225094 19:52716329-52716329 19:52213076-52213076
18 ABHD11-AS1 GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Pathogenic 523284 7:72772522-74133319
19 DDX3X GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) copy number loss Pathogenic 813719 X:41150139-43976458
20 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) SNV Pathogenic 162152 rs724159948 21:38862575-38862575 21:37490273-37490273
21 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) SNV Pathogenic 162153 rs724159949 21:38858865-38858865 21:37486563-37486563
22 DYRK1A NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs) Indel Pathogenic 162154 rs724159950 21:38858873-38858876 21:37486571-37486574
23 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs) Duplication Pathogenic 162156 rs724159952 21:38862753-38862754 21:37490451-37490452
24 DSCR4 NC_000021.8:g.(?_38007970)_(39747620_?)del Deletion Pathogenic 162157 21:38007970-39747620
25 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352
26 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs) Duplication Pathogenic 162159 rs724159954 21:38862655-38862656 21:37490353-37490354
27 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs) Duplication Pathogenic 162161 rs724159956 21:38868551-38868552 21:37496249-37496250
28 GPRC6A NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del Deletion Pathogenic 180227 6:116681080-119775014
29 ANKLE2 NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) SNV Pathogenic 218245 rs201785518 12:133306404-133306404 12:132729818-132729818
30 COL7A1 NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys) SNV Pathogenic 17463 rs121912855 3:48612651-48612651 3:48575218-48575218
31 SMARCAL1 NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) SNV Pathogenic 374208 rs748106387 2:217280150-217280150 2:216415427-216415427
32 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
33 VPS13B NM_017890.4(VPS13B):c.4620del (p.Ser1541fs) Deletion Pathogenic 374163 rs1057518939 8:100523652-100523652 8:99511424-99511424
34 SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs) Duplication Pathogenic 373993 rs1057518821 1:43396342-43396343 1:42930671-42930672
35 VPS13B NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) SNV Pathogenic 56635 rs386834061 8:100880540-100880540 8:99868312-99868312
36 COL7A1 NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter) SNV Pathogenic 17462 rs121912854 3:48630348-48630348 3:48592915-48592915
37 HDAC8 NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) SNV Pathogenic 280793 rs886041936 X:71715060-71715060 X:72495210-72495210
38 DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg) SNV Pathogenic 402130 rs1060499733 3:47888247-47888247 3:47846757-47846757
39 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His) SNV Pathogenic 375374 rs1057519436 3:47888040-47888040 3:47846550-47846550
40 ATP2B3 NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn) SNV Pathogenic 242886 rs782596945 X:152845687-152845687 X:153580229-153580229
41 VPS13B NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) SNV Pathogenic 56645 rs386834070 8:100146872-100146872 8:99134644-99134644
42 NT5M GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Pathogenic 523258 17:16936603-18184130
43 RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Pathogenic 523261 17:2339561-2826073
44 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>A SNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757
45 CC2D2A NM_001080522.2(CC2D2A):c.4179+1del Deletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
46 FLG-AS1 NM_002016.1(FLG):c.544A>T (p.Lys182Ter) SNV Pathogenic 523448 rs1218912272 1:152286818-152286818 1:152314342-152314342
47 SMC1A NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) Microsatellite Pathogenic 180197 rs727503773 X:53439900-53439902 X:53412950-53412952
48 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) Deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
49 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) Deletion Pathogenic 523556 rs1554034812 5:37059040-37059040 5:37058938-37058938
50 VPS13B NM_017890.4(VPS13B):c.9981G>A (p.Trp3327Ter) SNV Pathogenic 813527 8:100847930-100847930 8:99835702-99835702

Copy number variations for Microcephaly from CNVD:

7 (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
Sources

Expression for Microcephaly

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Search GEO for disease gene expression data for Microcephaly.
Sources

Pathways for Microcephaly

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Pathways related to Microcephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Chromatin Regulation / Acetylation 4
11.86 SMC1A KMT2A EP300 ATRX
2
Validated targets of C-MYC transcriptional activation 1
11.04 SLC2A1 NBN EP300
3
Pathways Affected in Adenoid Cystic Carcinoma 1
10.62 SMC1A EP300 ATRX
Sources

GO Terms for Microcephaly

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 TSEN54 SMC1A SBDS PQBP1 POGZ NBN
2 chromosome GO:0005694 9.1 SMC1A POGZ NBN MBD5 EP300 ATRX

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

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.77 SMC1A POGZ NBN EP300 ANKLE2
2 mitotic sister chromatid cohesion GO:0007064 9.32 SMC1A POGZ
3 isotype switching GO:0045190 9.26 NBN EXOSC3
4 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.16 NBN ATRX
5 positive regulation of transcription, DNA-templated GO:0045893 9.1 TCF4 PQBP1 KMT2A EP300 DYRK1A CDK5RAP2
6 positive regulation of telomere maintenance GO:0032206 8.96 NBN ATRX

Molecular functions related to Microcephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.76 TCF4 SMC1A PQBP1 POGZ MBD5 KMT2A
2 protein binding GO:0005515 9.6 TSEN54 TCF4 SVBP SMC1A SLC2A1 SBDS
3 long-chain fatty acid transporter activity GO:0005324 8.96 SLC2A1 MFSD2A
Sources

Sources for Microcephaly

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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