MCID: MCR010
MIFTS: 57

Microcephaly

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

Aliases & Classifications for Microcephaly

MalaCards integrated aliases for Microcephaly:

Name: Microcephaly 12 72 72 49 50 28 51 3 41 14 69
Microencephaly 12 72 49
Microcephalus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10907
ICD10 32 Q02
ICD9CM 34 742.1
MeSH 41 D008831
NCIt 46 C85874
UMLS 69 C0025958

Summaries for Microcephaly

NINDS : 50 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 autosomal recessive primary microcephaly and seckel syndrome. An important gene associated with Microcephaly is PQBP1 (Polyglutamine Binding Protein 1), and among its related pathways/superpathways is Cell Cycle, Mitotic. The drugs Magnesium Sulfate and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and bone, and related phenotypes are cellular and growth/size/body region

NIH Rare Diseases : 49 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. Last updated: 2/1/2016

CDC : 3 Click here to view a larger image

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 Autosomal Recessive Primary Microcephaly

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

(show top 50) (show all 791)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive primary microcephaly 34.4 ASPM CDK5RAP2 CENPJ KNL1 MCPH1 WDR62
2 seckel syndrome 32.2 CENPJ CEP152 MCPH1
3 seckel syndrome 5 31.9 CENPJ CEP152
4 microcephalic osteodysplastic primordial dwarfism, type ii 31.7 CDK5RAP2 CENPJ
5 alacrima, achalasia, and mental retardation syndrome 29.8 ATP2B3 DHX30 DYRK1A SLC2A1 VPS13B
6 seizure disorder 29.6 DHX30 DYRK1A SLC2A1
7 microcephaly, amish type 12.3
8 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.3
9 microcephaly, autosomal dominant 12.2
10 microcephaly 1, primary, autosomal recessive 12.2
11 microcephaly-capillary malformation syndrome 12.2
12 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.1
13 achalasia-microcephaly syndrome 12.1
14 microcephaly 4, primary, autosomal recessive 12.1
15 microcephaly 5, primary, autosomal recessive 12.1
16 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 12.1
17 microcephaly, seizures, and developmental delay 12.1
18 microcephaly, epilepsy, and diabetes syndrome 12.1
19 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 12.1
20 microcephaly-cardiomyopathy 12.1
21 microcephaly 3, primary, autosomal recessive 12.0
22 microcephaly 6, primary, autosomal recessive 12.0
23 microcephaly-micromelia syndrome 12.0
24 microcephaly microcornea syndrome seemanova type 12.0
25 radioulnar synostosis-microcephaly-scoliosis syndrome 12.0
26 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.0
27 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.0
28 microcephaly, postnatal progressive, with seizures and brain atrophy 12.0
29 microcephaly 9, primary, autosomal recessive 12.0
30 epiphyseal dysplasia, microcephaly, and nystagmus 12.0
31 microcephaly and chorioretinopathy, autosomal recessive, 1 12.0
32 seizures, cortical blindness, and microcephaly syndrome 12.0
33 congenital ichthyosis-microcephalus-tetraplegia syndrome 12.0
34 microcephaly 10, primary, autosomal recessive 12.0
35 lissencephaly 6 with microcephaly 12.0
36 microcephaly and chorioretinopathy, autosomal recessive, 2 12.0
37 microcephaly, short stature, and impaired glucose metabolism 1 12.0
38 microcephaly 7, primary, autosomal recessive 11.9
39 microcephaly 8, primary, autosomal recessive 11.9
40 albinism-microcephaly-digital anomalies syndrome 11.9
41 microcephaly with cervical spine fusion anomalies 11.9
42 microcephaly 11, primary, autosomal recessive 11.9
43 microcephaly 13, primary, autosomal recessive 11.9
44 microcephaly 12, primary, autosomal recessive 11.9
45 microcephaly, seizures, spasticity, and brain calcifications 11.9
46 short stature, microcephaly, and endocrine dysfunction 11.9
47 microcephaly 17, primary, autosomal recessive 11.9
48 microcephaly 18, primary, autosomal dominant 11.9
49 microcephaly, short stature, and limb abnormalities 11.9
50 microcephaly-deafness syndrome 11.9

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to Microcephaly

Symptoms & Phenotypes for Microcephaly

MGI Mouse Phenotypes related to Microcephaly:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 MCPH1 MFN2 NBN SLC25A19 SLC2A1 SMARCAL1
2 growth/size/body region MP:0005378 10 DHX30 DYRK1A HDAC8 MCPH1 MFN2 NBN
3 embryo MP:0005380 9.91 CENPJ CEP152 DHX30 DYRK1A HDAC8 MFN2
4 mortality/aging MP:0010768 9.77 CDK5RAP2 CENPJ COL7A1 DHX30 DYRK1A HDAC8
5 nervous system MP:0003631 9.44 ASPM CDK5RAP2 CENPJ CEP152 DHX30 DYRK1A

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
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
2 Analgesics Phase 3
3 Anesthetics Phase 3
4 Anti-Arrhythmia Agents Phase 3
5 Anticonvulsants Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8 Central Nervous System Depressants Phase 3
9 Peripheral Nervous System Agents Phase 3
10 Tocolytic Agents Phase 3
11 Antibodies Phase 3
12 gamma-Globulins Phase 3
13 Immunoglobulins Phase 3
14 Immunoglobulins, Intravenous Phase 3
15 Rho(D) Immune Globulin Phase 3
16
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
17
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
20
Mycophenolic acid Approved Phase 2 24280-93-1 446541
21
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
22 Antimetabolites Phase 2,Phase 1
23 Antihypertensive Agents Phase 2
24 Alkylating Agents Phase 2
25 Anti-Bacterial Agents Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Antifungal Agents Phase 2
28 Anti-Infective Agents Phase 2
29 Antimetabolites, Antineoplastic Phase 2,Phase 1
30 Antirheumatic Agents Phase 2
31 Antitubercular Agents Phase 2
32 Antiviral Agents Phase 2
33 Calcineurin Inhibitors Phase 2
34 Cyclosporins Phase 2
35 Dermatologic Agents Phase 2
36 Immunosuppressive Agents Phase 2,Phase 1
37 Vaccines Phase 1
38
Hydroxocobalamin Approved 13422-51-0 5460373 44475014 11953898
39
Iron Approved 7439-89-6 23925
40
Betaine Approved, Nutraceutical 107-43-7 247
41
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
42
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
43
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
44
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical 13422-55-4
45
leucovorin Approved, Nutraceutical 58-05-9 143 6006
46 Gastrointestinal Agents
47 Hematinics
48 Hypolipidemic Agents
49 Lipid Regulating Agents
50 Micronutrients

Interventional clinical trials:

(show all 34)

# Name Status NCT ID Phase Drugs
1 Efficacy Study of Hypothermia Plus Magnesium Sulphate(MgSO4) in the Management of Term and Near Term Babies With Hypoxic Ischemic Encephalopathy Unknown status NCT01646619 Phase 3 Magnesium Sulphate;Placebo
2 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
3 Transfusion of Prematures Trial Active, not recruiting NCT01702805 Phase 3
4 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
5 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2 Ambrisentan
6 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
7 Study of GLS-5700 in Dengue Virus Seropositive Adults Active, not recruiting NCT02887482 Phase 1
8 Study of GLS-5700 in Healthy Volunteers Active, not recruiting NCT02809443 Phase 1
9 Safety and Immunogenicity of a Zika Virus DNA Vaccine, VRC-ZKADNA085-00-VP, in Healthy Adults Active, not recruiting NCT02840487 Phase 1
10 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
11 Zika and Microcephaly: Case-control Study Completed NCT02741882
12 Microcephaly Genetic Deficiency in Neural Progenitors Completed NCT01565005
13 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II Completed NCT03139903
14 Fetal and Maternal Head Circumference During Pregnancy in Israeli Population Completed NCT02510170
15 Evaluation of Patients With Unresolved Chromosome Abnormalities Completed NCT00001639
16 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
17 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
18 TOBY (TOtal Body hYpothermia): a Study of Treatment for Perinatal Asphyxia Completed NCT00147030
19 CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy Completed NCT00383305
20 Effectiveness of LNS and MNP Supplements to Prevent Malnutrition in Women and Their Children in Bangladesh Completed NCT01715038
21 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Completed NCT01907555
22 Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF) Recruiting NCT03255369
23 Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero Recruiting NCT02943304
24 Zika Virus Infection's Pregnancy Consequences in French Department of America Recruiting NCT02916732
25 The VTCRI Neuromotor Research Clinic Recruiting NCT03325946
26 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210
27 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
28 Zika Virus Infection's Neonatal and Pediatric Consequences in French Department of America Recruiting NCT02810210
29 Hypothermia for Encephalopathy in Low and Middle-Income Countries Trial Recruiting NCT02387385
30 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
31 Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome Enrolling by invitation NCT03330600
32 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Not yet recruiting NCT02340871
33 New Variants Involved in Taybi-Linder Syndrome Not yet recruiting NCT03222947
34 Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. 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

MalaCards organs/tissues related to Microcephaly:

38
Brain, Cortex, Bone, Heart, Bone Marrow, Skin, Eye

Publications for Microcephaly

Articles related to Microcephaly:

(show top 50) (show all 875)
# Title Authors Year
1
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. ( 29346415 )
2018
2
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. ( 29370840 )
2018
3
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. ( 29426960 )
2018
4
STIL balancing primary microcephaly and cancer. ( 29352115 )
2018
5
Microcephaly epidemic related to the Zika virus and living conditions in Recife, Northeast Brazil. ( 29329574 )
2018
6
Niclosamide rescues microcephaly in a humanized<i>in vivo</i>model of Zika infection using human induced neural stem cells. ( 29378701 )
2018
7
Pre-Zika Microcephaly in Brazil: Closer to the Elusive Baseline and New Questions Raised. ( 29305392 )
2018
8
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. ( 29452367 )
2018
9
In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus. ( 29311619 )
2018
10
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. ( 29356416 )
2018
11
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 29243349 )
2018
12
Microcephaly in PiauA-, Brazil: descriptive study during the Zika virus epidemic, 2015-2016. ( 29412347 )
2018
13
Biallelic variants in KIF14 cause intellectual disability with microcephaly. ( 29343805 )
2018
14
Auditory brainstem function in microcephaly related to Zika virus infection. ( 29352094 )
2018
15
Cerebrospinal fluid aspects of neonates with or without microcephaly born to mothers with gestational Zika virus clinical symptoms. ( 29432825 )
2018
16
Zika Virus Infection, Pregnancy and Microcephaly. ( 29341036 )
2018
17
Reply to: Zika Virus Infection, Pregnancy and Microcephaly. ( 29341037 )
2018
18
Zika-related microcephaly in experimental models. ( 28417097 )
2017
19
A Rare Case of Osteopetrosis with Unusual Feature as Microcephaly. ( 28969233 )
2017
20
Isolated chromosome 8p23.2a89pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders. ( 28901431 )
2017
21
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice. ( 28663201 )
2017
22
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family. ( 28377545 )
2017
23
Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly. ( 28422950 )
2017
24
Diagnostic Approach to Primary Microcephaly. ( 28470649 )
2017
25
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly. ( 28440900 )
2017
26
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review. ( 28514307 )
2017
27
Raised Frequency of Microcephaly Related to Zika Virus Infection in Two Birth Defects Surveillance Systems in BogotA! and Cali, Colombia. ( 28914749 )
2017
28
Clinical-epidemiological description of live births with microcephaly in the state of Sergipe, Brazil, 2015. ( 28492766 )
2017
29
Severe congenital microcephaly with AP4M1 mutation, a case report. ( 28464862 )
2017
30
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature. ( 28711742 )
2017
31
Computational identification of mutually homologous Zika virus miRNAs that target microcephaly genes. ( 28385119 )
2017
32
The larvicide pyriproxyfen blamed during the Zika virus outbreak does not cause microcephaly in zebrafish embryos. ( 28051181 )
2017
33
Microcephaly Case Fatality Rate Associated with Zika Virus Infection in Brazil: Current Estimates. ( 28403061 )
2017
34
Microcephaly with generalized dystonia: Exception to the rule. ( 28488652 )
2017
35
Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management. ( 28844634 )
2017
36
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family. ( 28778786 )
2017
37
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. ( 28272472 )
2017
38
Anxiety, depression, and quality of life in mothers of newborns with microcephaly and presumed congenital Zika virus infection: a follow-up study during the first year after birth. ( 28429099 )
2017
39
Human microcephaly ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2. ( 28883092 )
2017
40
Zika Virus-Induced Microcephaly and Its Possible Molecular Mechanism. ( 28081529 )
2017
41
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. ( 28942966 )
2017
42
Ocular findings in patients with microcephaly can suggest presumed congenital zika virus infection. ( 28834250 )
2017
43
Microcephaly and Zika Virus Infection. ( 27941545 )
2017
44
Transfer of convalescent serum to pregnant mice prevents Zika virus infection and microcephaly in offspring. ( 27922617 )
2017
45
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ( 28280135 )
2017
46
Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. ( 28431838 )
2017
47
Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles. ( 28811500 )
2017
48
Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease. ( 29058117 )
2017
49
Reduction of the birth rate in SALo Paulo: a probable effect of the panic caused by the Zika-associated microcephaly epidemic. ( 28869076 )
2017
50
Achalasia-microcephaly syndrome: a further case report. ( 28471776 )
2017

Variations for Microcephaly

ClinVar genetic disease variations for Microcephaly:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 PQBP1 NM_005710.2(PQBP1): c.459_462delAGAG (p.Arg153Serfs) deletion Pathogenic rs606231194 GRCh38 Chromosome X, 48902399: 48902402
2 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
3 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
4 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh37 Chromosome 3, 48612651: 48612651
5 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
6 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834070 GRCh37 Chromosome 8, 100146872: 100146872
7 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
8 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh38 Chromosome 21, 37486563: 37486563
9 DYRK1A NM_001396.3(DYRK1A): c.621_624delTGAGinsGAA (p.Glu208Asnfs) indel Pathogenic rs724159950 GRCh38 Chromosome 21, 37486571: 37486574
10 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
11 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
12 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
13 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
14 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
15 covers 24 genes, none of which curated to show dosage sensitivity NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 116681080: 119775014
16 DIAPH1 NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 GRCh38 Chromosome 5, 141573518: 141573518
17 AP4M1 NM_004722.3(AP4M1): c.952C> T (p.Arg318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882249 GRCh38 Chromosome 7, 100105981: 100105981
18 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
19 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh37 Chromosome 1, 12052716: 12052716
20 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
21 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic,risk factor rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
22 SLC2A1 NM_006516.2(SLC2A1): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80359826 GRCh37 Chromosome 1, 43394689: 43394689
23 ANKLE2 NM_015114.2(ANKLE2): c.2344C> T (p.Gln782Ter) single nucleotide variant Pathogenic rs201785518 GRCh37 Chromosome 12, 133306404: 133306404
24 ANKLE2 NM_015114.2(ANKLE2): c.1717C> G (p.Leu573Val) single nucleotide variant Pathogenic/Likely pathogenic rs863225465 GRCh37 Chromosome 12, 133311145: 133311145
25 ATP2B3 NM_001001344.2(ATP2B3): c.3594G> T (p.Lys1198Asn) single nucleotide variant Pathogenic rs782596945 GRCh37 Chromosome X, 152845687: 152845687
26 HDAC8 NM_018486.2(HDAC8): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs886041936 GRCh37 Chromosome X, 71715060: 71715060
27 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh37 Chromosome 1, 43396343: 43396343
28 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh37 Chromosome 2, 217280150: 217280150
29 VPS13B NM_017890.4(VPS13B): c.4620delA (p.Ser1541Profs) deletion Pathogenic rs1057518939 GRCh37 Chromosome 8, 100523652: 100523652
30 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh37 Chromosome 3, 47888040: 47888040
31 DHX30 NM_138615.2(DHX30): c.2344C> T (p.Arg782Trp) single nucleotide variant Pathogenic rs753242774 GRCh37 Chromosome 3, 47889727: 47889727
32 DHX30 NM_138615.2(DHX30): c.1685A> G (p.His562Arg) single nucleotide variant Pathogenic rs1060499733 GRCh37 Chromosome 3, 47888247: 47888247
33 ASPM NM_018136.4(ASPM): c.1729_1730delAG (p.Ser577Argfs) deletion Pathogenic/Likely pathogenic rs199422146 GRCh37 Chromosome 1, 197111652: 197111653

Copy number variations for Microcephaly from CNVD:

7 (show all 13)
# CNVD ID Chromosom 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
12.44 ANKLE2 CDK5RAP2 CENPJ CEP152 DYRK1A HDAC8

GO Terms for Microcephaly

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.7 ASPM CDK5RAP2 CENPJ CEP152 DYRK1A MCPH1
2 centriole GO:0005814 9.5 CENPJ CEP152 WDR62
3 mitotic spindle pole GO:0097431 9.37 ASPM CDK5RAP2
4 centrosome GO:0005813 9.35 ASPM CDK5RAP2 CENPJ CEP152 WDR62
5 pericentriolar material GO:0000242 9.26 CDK5RAP2 CEP152
6 microtubule organizing center GO:0005815 9.02 CDK5RAP2 CENPJ CEP152 MCPH1 WDR62

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

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.76 ANKLE2 ASPM CENPJ KNL1
2 G2/M transition of mitotic cell cycle GO:0000086 9.61 CDK5RAP2 CENPJ CEP152
3 ciliary basal body-plasma membrane docking GO:0097711 9.5 CDK5RAP2 CENPJ CEP152
4 neuronal stem cell population maintenance GO:0097150 9.4 ASPM MCPH1
5 establishment of mitotic spindle orientation GO:0000132 9.37 CDK5RAP2 MCPH1
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.33 CDK5RAP2 CENPJ CEP152
7 t-circle formation GO:0090656 9.26 NBN SMARCAL1
8 cerebral cortex development GO:0021987 9.26 ASPM MCPH1 SLC2A1 WDR62
9 centriole replication GO:0007099 8.92 CDK5RAP2 CENPJ CEP152 WDR62

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 ANKLE2 ATP2B3 CDK5RAP2 CENPJ CEP152 COL7A1

Sources for Microcephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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