MCID: MCR010
MIFTS: 59

Microcephaly

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly

MalaCards integrated aliases for Microcephaly:

Name: Microcephaly 12 74 52 53 29 54 6 3 15 39 71 32
Microencephaly 12 74 52
Microcephaly Syndrome 36
Microcephalus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10907
KEGG 36 H02132
ICD9CM 34 742.1
NCIt 49 C85874
SNOMED-CT 67 1829003
ICD10 32 Q02
UMLS 71 C0025958

Summaries for Microcephaly

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 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 is Mitotic Telophase/Cytokinesis. The drugs Verapamil and Indomethacin have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and heart, and related phenotypes are cellular and growth/size/body region

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

NIH Rare Diseases : 52 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 (2 SD) 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 is a medical condition in which the brain does not develop properly, resulting in a... 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 15, 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 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 1392)
# Related Disease Score Top Affiliating Genes
1 primary autosomal recessive microcephaly 35.8 MFSD2A MECP2 CDK5RAP2 ASPM ANKLE2
2 primary microcephaly 35.4 DYRK1A CDK5RAP2 ASPM ANKLE2
3 microcephaly 17, primary, autosomal recessive 35.3 MFSD2A CDK5RAP2 ASPM ANKLE2
4 microcephaly 6, primary, autosomal recessive 35.0 CDK5RAP2 ASPM
5 microcephaly 4, primary, autosomal recessive 35.0 CDK5RAP2 ASPM
6 microcephaly 15, primary, autosomal recessive 35.0 MFSD2A ANKLE2
7 microcephaly 16, primary, autosomal recessive 35.0 MFSD2A ANKLE2
8 microcephaly 13, primary, autosomal recessive 35.0 MFSD2A ANKLE2
9 microcephaly 18, primary, autosomal dominant 35.0 ASPM ANKLE2
10 microcephaly 7, primary, autosomal recessive 35.0 CDK5RAP2 ASPM
11 microcephaly 3, primary, autosomal recessive 35.0 CDK5RAP2 ASPM
12 microcephaly 5, primary, autosomal recessive 34.9 CDK5RAP2 ASPM
13 microcephaly 1, primary, autosomal recessive 34.9 EXOSC3 ASPM
14 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 34.9 CDK5RAP2 ASPM
15 mental retardation and microcephaly with pontine and cerebellar hypoplasia 34.7 TSEN54 POGZ
16 alacrima, achalasia, and mental retardation syndrome 33.4 VPS13B TCF4 SVBP SLC2A1 PQBP1 MFSD2A
17 seckel syndrome 33.3 NBN CDK5RAP2 ASPM
18 pontocerebellar hypoplasia, type 2d 33.3 TSEN54 EXOSC3
19 cornelia de lange syndrome 33.2 SMC1A POGZ NIPBL MECP2 ATRX
20 seckel syndrome 4 33.0 CDK5RAP2 ASPM
21 microcephalic osteodysplastic primordial dwarfism, type ii 33.0 CDK5RAP2 ASPM
22 alpha thalassemia-x-linked intellectual disability syndrome 32.6 SMC1A MECP2 ATRX
23 visual epilepsy 32.4 SLC2A1 POGZ MECP2 DYRK1A
24 sc phocomelia syndrome 32.3 SMC1A NIPBL
25 syndromic intellectual disability 31.9 TCF4 PQBP1 POGZ MECP2 DYRK1A ATRX
26 hypertonia 31.4 TSEN54 SMC1A
27 familial isolated trichomegaly 30.5 SMC1A NIPBL
28 microcephaly, amish type 12.6
29 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.6
30 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 12.5
31 microcephaly, autosomal dominant 12.5
32 microcephaly-capillary malformation syndrome 12.5
33 microcephaly, seizures, and developmental delay 12.5
34 microcephaly 9, primary, autosomal recessive 12.5
35 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.5
36 achalasia-microcephaly syndrome 12.4
37 microcephaly 10, primary, autosomal recessive 12.4
38 microcephaly and chorioretinopathy, autosomal recessive, 1 12.4
39 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.4
40 microcephaly, epilepsy, and diabetes syndrome 12.4
41 microcephaly-micromelia syndrome 12.4
42 microcephaly 8, primary, autosomal recessive 12.4
43 microcephaly 12, primary, autosomal recessive 12.4
44 microcephaly, short stature, and impaired glucose metabolism 1 12.4
45 microcephaly 11, primary, autosomal recessive 12.4
46 albinism-microcephaly-digital anomalies syndrome 12.4
47 microcephaly 14, primary, autosomal recessive 12.4
48 microcephaly and chorioretinopathy, autosomal recessive, 2 12.4
49 seizures, cortical blindness, and microcephaly syndrome 12.4
50 microcephaly-cardiomyopathy 12.4

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 cellular MP:0005384 10.03 ASPM ATRX CDK5RAP2 DIAPH1 DYRK1A MECP2
2 growth/size/body region MP:0005378 9.97 ASPM ATRX CDK5RAP2 DIAPH1 DYRK1A MECP2
3 mortality/aging MP:0010768 9.86 ANKLE2 ATRX CDK5RAP2 DIAPH1 DYRK1A EXOSC3
4 nervous system MP:0003631 9.36 ASPM ATRX CDK5RAP2 DIAPH1 DYRK1A MECP2

Drugs & Therapeutics for Microcephaly

Drugs for Microcephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 3 52-53-9 2520
2
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
3 Anti-Arrhythmia Agents Phase 3
4 Vasodilator Agents Phase 3
5 Calcium, Dietary Phase 3
6 calcium channel blockers Phase 3
7 Pharmaceutical Solutions Phase 3
8 Analgesics Phase 3
9 Analgesics, Non-Narcotic Phase 3
10 Anti-Inflammatory Agents Phase 3
11 Cyclooxygenase Inhibitors Phase 3
12 Tocolytic Agents Phase 3
13 Anti-Inflammatory Agents, Non-Steroidal Phase 3
14 Antirheumatic Agents Phase 3
15
Calcium Nutraceutical Phase 3 7440-70-2 271
16
Mineral oil Approved, Vet_approved Phase 2 8042-47-5
17
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
18
Calcium polycarbophil Approved Phase 2 126040-58-2
19 Anti-HIV Agents Phase 1, Phase 2
20 Plerixafor octahydrochloride Phase 1, Phase 2
21 Hormones Phase 2
22 Hormone Antagonists Phase 2
23 Progestins Phase 2
24 Psyllium Phase 2
25 Carbopol 940 Phase 2
26
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
27
alemtuzumab Approved, Investigational Phase 1 216503-57-0
28 Vaccines Phase 1
29 Antineoplastic Agents, Immunological Phase 1
30
Methylcobalamin Approved, Investigational 13422-55-4
31
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
32
Nitric Oxide Approved 10102-43-9 145068
33
Ethanol Approved 64-17-5 702
34
Phenylalanine Approved, Investigational, Nutraceutical 63-91-2 6140
35
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
36
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
37
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
38
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
39
Betaine Approved, Nutraceutical 107-43-7 247
40
Asparagine Approved, Investigational, Nutraceutical 70-47-3 6267
41
Cobalamin Experimental 13408-78-1 6857388
42 Trace Elements
43 Micronutrients
44 Vitamins
45 Gastrointestinal Agents
46 Vitamin B Complex
47 Vitamin B 12
48 Hematinics
49 Folate
50 Nutrients

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 A Double-blind, Placebo-controlled, Randomized Study to Evaluate the Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Subjects With Phenylketonuria Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
2 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 AMD3100 in Combination With G-CSF to Mobilize Peripheral Blood Stem Cells in Patients With Fanconi Anemia(FA): A Phase I/II Study Completed NCT00479115 Phase 1, Phase 2 AMD3100
5 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
6 Randomized Trial of Maternal Progesterone Therapy to Improve Neurodevelopmental Outcomes in Infants With Congenital Heart Disease Active, not recruiting NCT02133573 Phase 2 Progesterone;Vaginal lubricant
7 Phase I, Placebo-Controlled, Double-Blind Study To Evaluate The Safety, Tolerability, AND Immunogenicity Of GLS-5700, Administered ID Followed By Electroporation In Dengue Virus-Seropositive Adults Completed NCT02887482 Phase 1
8 Phase I, Open-label, Dose-Ranging Study to Evaluate the Safety, Tolerability, and Immunogenicity of GLS-5700 Administered ID Followed by EP in Dengue Virus-Naïve Adults Completed NCT02809443 Phase 1
9 VRC 319: A Phase I/Ib, Randomized Clinical Trial to Evaluate the Safety and Immunogenicity of A Zika Virus DNA Vaccine, VRC-ZKADNA085-00-VP, in Healthy Adults Completed NCT02840487 Phase 1
10 A Phase I Study Evaluating The Use Of Rft5-Dga To Deplete Alloreactive Cells For Patients With Fanconi Anemia After Haploidentical Stem Cell Transplantation Terminated NCT00586274 Phase 1 Fludarabine
11 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
12 Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment: Cohort Study in Fiocruz/IFF Unknown status NCT03255369
13 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
14 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
15 Relevance of Gastric Aspirate in HCMV Detection Unknown status NCT03262194
16 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871
17 Rash Accompanied by Three or More Dengue-like Symptoms During Pregnancy and Microcephaly: Case-control Study Completed NCT02741882
18 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
19 Fetal and Maternal Head Circumference During Pregnancy Completed NCT02510170
20 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
21 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
22 Sensorimotor Outcomes of Children Exposed to Foetal Zika Virus Infection During the First or Second Trimester of Gestation. Completed NCT03679728
23 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
24 Evaluation of Patients With Unresolved Chromosome Aberrations Completed NCT00001639
25 Effects of Maternal Phenylketonuria (PKU) on Pregnancy Outcome Completed NCT00065299
26 Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
27 Screening for Congenital Cytomegalovirus Infection in Newborns With Failed Hearing Screen or Who Are Small for Gestational Age Completed NCT02683096
28 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Completed NCT02322177
29 Study of Zika Virus and Related Arbovirus Infections in Deferred Blood Donors Completed NCT02794181
30 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Completed NCT03802708
31 Cytomegalovirus Testing and Intervention Protocol for Newborn Nursery and Newborn Intensive Care Unit Completed NCT02680743
32 Guangzhou Surveillance and Clinical Study in Microcephaly Recruiting NCT03651687
33 Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia Recruiting NCT03922594
34 Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation Recruiting NCT03587155
35 Risk Evaluation of Fetal Nervous System and Neurodevelopment Disorders in Infants of Women Exposed to Zika Virus Infection During Pregnancy Recruiting NCT02943304
36 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210
37 Neuro-COVID-19: Neurological Complications of COVID-19 Recruiting NCT04418609
38 Neurologic Manifestations of COVID 19 in Children Recruiting NCT04379089
39 The FBRI VTC Neuromotor Research Clinic Recruiting NCT03325946
40 Children (CH) Cohort for the Evaluation of Developmental and Neurological Abnormalities in Infants Born to Mothers Residing in Areas With Zika Virus Transmission During Pregnancy Recruiting NCT03393286
41 Turkish Validity And Reliability Of The Hammersmith Infant Neurological Evaluation (Hine) Recruiting NCT04259177
42 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Recruiting NCT03548779
43 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
44 Pregnant Women (PW) Cohort for Evaluation of Risks of Congenital Malformations and Other Adverse Pregnancy Outcomes After Zika Virus Infection (Part of ZIKAlliance) Active, not recruiting NCT03188731
45 HIV Exposure, Disease Acquisition and Progression Among Children: Role of Maternal Immunogenetics, Viral Genetic Diversity, HAART Exposure, Co-morbidities and Psycho-Social Status: (UZ-CHS Birth Cohort) Active, not recruiting NCT04087239
46 Developmental Outcome After In Utero ZIKV Exposure in Children Without Congenital Zika Syndrome Enrolling by invitation NCT04398901
47 Evaluation of Medical Conditions Associated With Zika Virus Infection in Managua, Nicaragua Enrolling by invitation NCT04182685
48 Contribution of the Exome Sequencing in Antenatal Period Behind Ultrasound Features Suggestive of a Rare Genetic Disease Not yet recruiting NCT04406480
49 Screening For Critical Congenital Anomalies In NICU And Their Out Come in Assiut Universty Not yet recruiting NCT03882385
50 Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy Terminated NCT01541397 Sapropterin

Search NIH Clinical Center for Microcephaly

Genetic Tests for Microcephaly

Genetic tests related to Microcephaly:

# Genetic test Affiliating Genes
1 Microcephaly 29

Anatomical Context for Microcephaly

MalaCards organs/tissues related to Microcephaly:

40
Brain, Cortex, Heart, Bone, Fetal Brain, Testes, Eye

Publications for Microcephaly

Articles related to Microcephaly:

(show top 50) (show all 8270)
# Title Authors PMID Year
1
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. 54 61
19808985 2010
2
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. 61 54
20382060 2010
3
Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. 54 61
20142466 2010
4
Many roads lead to primary autosomal recessive microcephaly. 61 54
19931588 2010
5
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. 54 61
20133615 2010
6
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. 54 61
20196394 2009
7
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. 61 54
19591936 2009
8
A novel mutation in a family with DNA ligase IV deficiency syndrome. 61 54
19418549 2009
9
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. 54 61
19332161 2009
10
Conditional inactivation of the NBS1 gene in the mouse central nervous system leads to neurodegeneration and disorganization of the visual system. 61 54
19345213 2009
11
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 54 61
19235232 2009
12
The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. 61 54
19267414 2009
13
Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. 54 61
19151620 2009
14
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
15
Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy. 61 54
18932004 2008
16
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. 54 61
18614966 2008
17
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 61 54
18655112 2008
18
Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency. 54 61
18228065 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. 54 61
18636190 2008
20
[GLUT-1 deficiency syndrome or De Vivo disease: a case report]. 61 54
18556184 2008
21
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 61 54
18513969 2008
22
Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. 61 54
18593981 2008
23
Ionizing radiation downregulates ASPM, a gene responsible for microcephaly in humans. 61 54
18331833 2008
24
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
25
Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. 61 54
17936729 2007
26
The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo. 54 61
17895362 2007
27
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 54 61
17406642 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
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. 61 54
17276711 2007
30
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype. 54 61
17395558 2007
31
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. 54 61
17489814 2007
32
Intragenic deletion of Tgif causes defectsin brain development. 54 61
17082251 2006
33
Microcephalin: a causal link between impaired damage response signalling and microcephaly. 61 54
17102619 2006
34
What primary microcephaly can tell us about brain growth. 54 61
16829198 2006
35
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 54 61
16684786 2006
36
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 54 61
16740914 2006
37
Normal variants of Microcephalin and ASPM do not account for brain size variability. 61 54
16687438 2006
38
Flies without centrioles. 61 54
16814722 2006
39
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 54 61
16575835 2006
40
A mouse model for Glut-1 haploinsufficiency. 54 61
16497725 2006
41
Treatment with amino acids in serine deficiency disorders. 61 54
16763900 2006
42
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 54 61
16415040 2006
43
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. 61 54
15875198 2006
44
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. 61 54
16149086 2006
45
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. 54 61
16358361 2006
46
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. 54 61
16211557 2005
47
BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. 61 54
16217032 2005
48
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 61 54
16088910 2005
49
PQBP-1 is expressed predominantly in the central nervous system during development. 61 54
16190883 2005
50
Periventricular heterotopia. 54 61
15996530 2005

Variations for Microcephaly

ClinVar genetic disease variations for Microcephaly:

6 (show top 50) (show all 168) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg)SNV Pathogenic 402130 rs1060499733 3:47888247-47888247 3:47846757-47846757
2 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
3 FLG NM_002016.1(FLG):c.544A>T (p.Lys182Ter)SNV Pathogenic 523448 rs1218912272 1:152286818-152286818 1:152314342-152314342
4 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>ASNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757
5 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)deletion Pathogenic 523556 rs1554034812 5:37059040-37059040 5:37058938-37058938
6 STXBP1 NM_003165.4(STXBP1):c.733C>G (p.His245Asp)SNV Pathogenic 523457 rs1554777480 9:130428514-130428514 9:127666235-127666235
7 subset of 25 genes: ELN GRCh37/hg19 7q11.23(chr7:72772522-74133319)copy number loss Pathogenic 523284 7:72772522-74133319
8 subset of 22 genes: FLCN , RAI1 GRCh37/hg19 17p11.2(chr17:16936603-18184130)copy number loss Pathogenic 523258 17:16936603-18184130
9 CLUH , METTL16 , PAFAH1B1 , RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073)copy number loss Pathogenic 523261 17:2339561-2826073
10 SLC2A1 NM_006516.3(SLC2A1):c.859A>C (p.Ile287Leu)SNV Pathogenic 625201 1:43395272-43395272 1:42929601-42929601
11 subset of 25 genes: ELN GRCh37/hg19 7q11.23(chr7:72772522-74133319)copy number loss Pathogenic 625632 7:72772522-74133319
12 SVBP NM_199342.4(SVBP):c.82C>T (p.Gln28Ter)SNV Pathogenic 635968 1:43282134-43282134 1:42816463-42816463
13 SVBP NM_199342.4(SVBP):c.39_42del (p.Lys13fs)deletion Pathogenic 635969 1:43282174-43282177 1:42816503-42816506
14 TAF8 NM_138572.3(TAF8):c.781-1G>ASNV Pathogenic 638647 6:42044837-42044837 6:42077099-42077099
15 PAK3 NM_002578.5(PAK3):c.976G>C (p.Val326Leu)SNV Pathogenic 684413 X:110435830-110435830 X:111192602-111192602
16 MFSD2A NM_032793.5(MFSD2A):c.229-25_229-23deldeletion Pathogenic 684729 1:40424346-40424348 1:39958674-39958676
17 HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)SNV Pathogenic 804288 5:140054329-140054329 5:140674744-140674744
18 HARS1 NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)duplication Pathogenic 804287 5:140056612-140056613 5:140677027-140677028
19 CDK5RAP2 NM_018249.6(CDK5RAP2):c.250C>T (p.Leu84Phe)SNV Pathogenic 812994 9:123313126-123313126 9:120550848-120550848
20 DDX3X NM_001356.5(DDX3X):c.1746del (p.Ser583fs)deletion Pathogenic 870099 X:41206242-41206242 X:41346989-41346989
21 GRM7 NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys)SNV Pathogenic 870348 3:7494299-7494299 3:7452612-7452612
22 GRIN2B NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs)deletion Pathogenic 916029 12:13768481-13768488 12:13615547-13615554
23 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659
24 SBDS NM_016038.4(SBDS):c.258+2T>CSNV Pathogenic 3196 rs113993993 7:66459197-66459197 7:66994210-66994210
25 SMARCAL1 NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter)SNV Pathogenic 4171 rs119473033 2:217342939-217342939 2:216478216-216478216
26 PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)SNV Pathogenic 6196 rs121908681 22:38516874-38516874 22:38120867-38120867
27 NBN NM_002485.5(NBN):c.657_661del (p.Lys219fs)deletion Pathogenic 6940 rs587776650 8:90983442-90983446 8:89971214-89971218
28 KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)SNV Pathogenic 7462 rs137853066 1:160012129-160012129 1:160042339-160042339
29 COL7A1 NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter)SNV Pathogenic 17462 rs121912854 3:48630348-48630348 3:48592915-48592915
30 COL7A1 NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys)SNV Pathogenic 17463 rs121912855 3:48612651-48612651 3:48575218-48575218
31 EXOSC3 NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)SNV Pathogenic 31691 rs387907196 9:37784950-37784950 9:37784953-37784953
32 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279
33 CC2D2A NM_001080522.2(CC2D2A):c.4179+1deldeletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
34 ATRX NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter)SNV Pathogenic 11728 rs122445099 X:76776310-76776310 X:77520832-77520832
35 VPS13B NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter)SNV Pathogenic 56645 rs386834070 8:100146872-100146872 8:99134644-99134644
36 subset of 12 genes: DYRK1A NC_000021.8:g.(?_38007970)_(39747620_?)deldeletion Pathogenic 162157 21:38007970-39747620
37 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)SNV Pathogenic 162153 rs724159949 21:38858865-38858865 21:37486563-37486563
38 DYRK1A NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)indel Pathogenic 162154 rs724159950 21:38858873-38858876 21:37486571-37486574
39 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)SNV Pathogenic 162152 rs724159948 21:38862575-38862575 21:37490273-37490273
40 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)duplication Pathogenic 162159 rs724159954 21:38862655-38862656 21:37490353-37490354
41 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)duplication Pathogenic 162156 rs724159952 21:38862753-38862754 21:37490451-37490452
42 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)duplication Pathogenic 162161 rs724159956 21:38868551-38868552 21:37496249-37496250
43 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352
44 TCF4 NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)SNV Pathogenic 93542 rs121909123 18:52896224-52896224 18:55228993-55228993
45 SMC1A NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del)short repeat Pathogenic 180197 rs727503773 X:53439900-53439902 X:53412950-53412952
46 covers 24 genes, none of which curated to show dosage sensitivity NC_000006.11:g.(116681080_116735056)_(119687719_119775014)deldeletion Pathogenic 180227 6:116681080-119775014
47 SPART NM_015087.5(SPART):c.1450dup (p.Thr484fs)duplication Pathogenic 183277 rs730882198 13:36888396-36888397 13:36314259-36314260
48 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter)SNV Pathogenic 207196 rs80359826 1:43394689-43394689 1:42929018-42929018
49 PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)SNV Pathogenic 217458 rs863225094 19:52716329-52716329 19:52213076-52213076
50 ANKLE2 NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter)SNV Pathogenic 218245 rs201785518 12:133306404-133306404 12:132729818-132729818

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

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
10.04 SMC1A NIPBL

GO Terms for Microcephaly

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 TSEN54 TCF4 SMC1A PQBP1 POGZ NIPBL
2 nucleoplasm GO:0005654 9.7 TSEN54 SMC1A PQBP1 POGZ NIPBL NBN
3 chromosome GO:0005694 9.55 SMC1A POGZ NIPBL NBN ATRX
4 mitotic spindle pole GO:0097431 8.8 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 9.63 SMC1A POGZ NIPBL NBN ASPM ANKLE2
2 isotype switching GO:0045190 9.37 NBN EXOSC3
3 brain development GO:0007420 9.35 NIPBL MFSD2A MECP2 CDK5RAP2 ASPM
4 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.32 NBN ATRX
5 positive regulation of telomere maintenance GO:0032206 9.26 NBN ATRX
6 mitotic sister chromatid cohesion GO:0007064 8.8 SMC1A POGZ NIPBL

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.21 TSEN54 TCF4 SVBP SMC1A SLC2A1 PQBP1
2 chromatin binding GO:0003682 9.72 TCF4 SMC1A NIPBL MECP2 ATRX
3 protein N-terminus binding GO:0047485 9.58 NIPBL NBN MECP2
4 long-chain fatty acid transporter activity GO:0005324 9.37 SLC2A1 MFSD2A
5 protein self-association GO:0043621 9.33 TCF4 SLC2A1 DYRK1A
6 chromo shadow domain binding GO:0070087 8.96 NIPBL ATRX
7 mediator complex binding GO:0036033 8.62 SMC1A NIPBL

Sources for Microcephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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