MCID: MCR010
MIFTS: 58

Microcephaly malady

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

Aliases & Classifications for Microcephaly

Aliases & Descriptions for Microcephaly:

Name: Microcephaly 12 71 50 51 29 52 3 42 14 69
Microencephaly 12 50
Microcephalus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10907
ICD10 33 Q02
ICD9CM 35 742.1
MeSH 42 D008831
NCIt 47 C85874
UMLS 69 C0025958

Summaries for Microcephaly

NIH Rare Diseases : 50 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

MalaCards based summary : Microcephaly, also known as microencephaly, is related to brachydactyly and autosomal recessive primary microcephaly. An important gene associated with Microcephaly is ASPM (Abnormal Spindle Microtubule Assembly), and among its related pathways/superpathways is DNA damage_NHEJ mechanisms of DSBs repair. The drugs Magnesium Sulfate and Analgesics 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

CDC : 3 Click here to view a larger image

NINDS : 51 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.

Wikipedia : 71 Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller... more...

Related Diseases for Microcephaly

Diseases in the Microcephaly family:

Microcephaly 15, Primary, Autosomal Recessive Microcephaly 7, Primary, Autosomal Recessive
Microcephaly 14, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 8, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 3, Primary, Autosomal Recessive Microcephaly 11, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 4, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Autosomal Dominant Microcephaly Autosomal Recessive Primary Microcephaly
Primary Microcephaly Primary Autosomal Recessive Microcephaly Type 2
Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive

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

(show top 50) (show all 625)
id Related Disease Score Top Affiliating Genes
1 brachydactyly 29.6 ASPM CDK5RAP2 CENPJ CEP152 KNL1 MCPH1
2 autosomal recessive primary microcephaly 12.2
3 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.2
4 microcephaly, amish type 12.1
5 microcephaly-capillary malformation syndrome 12.1
6 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.0
7 microcephaly, seizures, and developmental delay 12.0
8 microcephaly 1, primary, autosomal recessive 12.0
9 achalasia-microcephaly syndrome 12.0
10 autosomal dominant microcephaly 11.9
11 microcephaly and chorioretinopathy, autosomal recessive, 1 11.9
12 microcephaly 4, primary, autosomal recessive 11.9
13 microcephaly 9, primary, autosomal recessive 11.9
14 microcephaly 5, primary, autosomal recessive 11.9
15 microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 11.9
16 microcephaly, postnatal progressive, with seizures and brain atrophy 11.9
17 microcephaly, epilepsy, and diabetes syndrome 11.9
18 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.9
19 microcephaly and chorioretinopathy, autosomal recessive, 2 11.9
20 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.9
21 microcephaly 10, primary, autosomal recessive 11.9
22 microcephaly 7, primary, autosomal recessive 11.9
23 microcephaly 3, primary, autosomal recessive 11.9
24 microcephaly 6, primary, autosomal recessive 11.9
25 microcephaly 8, primary, autosomal recessive 11.9
26 short stature, microcephaly, and endocrine dysfunction 11.8
27 lissencephaly 6, with microcephaly 11.8
28 microcephaly, short stature, and impaired glucose metabolism 11.8
29 microcephaly 11, primary, autosomal recessive 11.8
30 microcephaly 12, primary, autosomal recessive 11.8
31 congenital ichthyosis-microcephalus-tetraplegia syndrome 11.8
32 microcephaly 13, primary, autosomal recessive 11.8
33 microcephaly and chorioretinopathy, autosomal recessive, 3 11.8
34 mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 11.8
35 microcephaly 15, primary, autosomal recessive 11.8
36 microcephaly, congenital cataract and psoriasiform dermatitis 11.8
37 microcephaly 16, primary, autosomal recessive 11.8
38 microcephaly 14, primary, autosomal recessive 11.8
39 microcephaly 17, primary, autosomal recessive 11.8
40 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.8
41 short stature with microcephaly and distinctive facies 11.8
42 primary microcephaly 11.8
43 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 11.8
44 periventricular heterotopia with microcephaly 11.8
45 microcephaly-cardiomyopathy 11.8
46 congenital ichthyosis, microcephalus, quadriplegia 11.8
47 microcephaly, short stature, and impaired glucose metabolism 2 11.8
48 cataract-microcephaly-failure to thrive-kyphoscoliosis 11.7
49 microcephaly and chorioretinopathy 3 11.7
50 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 11.7

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to Microcephaly

Symptoms & Phenotypes for Microcephaly

MGI Mouse Phenotypes related to Microcephaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 STIL WDR62 XRCC4 ASPM CASK CDK5RAP2
2 growth/size/body region MP:0005378 10.17 PPP1R15B SLC25A19 STIL TRMT10A WDR62 XRCC4
3 hematopoietic system MP:0005397 10 ASPM CDK5RAP2 CENPJ EFTUD2 MCPH1 MFSD2A
4 mortality/aging MP:0010768 9.97 CASK CDK5RAP2 CENPJ EFTUD2 KNL1 MCPH1
5 nervous system MP:0003631 9.77 ASPM CASK CDK5RAP2 CENPJ CEP152 MCPH1
6 reproductive system MP:0005389 9.23 CASK CDK5RAP2 CENPJ MCPH1 NBN WDR62

Drugs & Therapeutics for Microcephaly

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

(show top 50) (show all 57)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Vet_approved Phase 3 7487-88-9 24083
2 Analgesics Phase 3
3 calcium channel blockers Phase 3
4 Tocolytic Agents Phase 3
5 Anesthetics Phase 3
6 Peripheral Nervous System Agents Phase 3
7 Anti-Arrhythmia Agents Phase 3
8 Anticonvulsants Phase 3
9 Calcium, Dietary Phase 3
10 Central Nervous System Depressants Phase 3
11 Immunoglobulin G Phase 3
12 Immunoglobulins Phase 3
13 gamma-Globulins Phase 3
14 Immunoglobulins, Intravenous Phase 3
15 Rho(D) Immune Globulin Phase 3
16 Antibodies Phase 3
17
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
18
Mycophenolic acid Approved Phase 2 24280-93-1 446541
19
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
20
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
21
Vidarabine Approved Phase 2 24356-66-9 32326 21704
22
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
23
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
24 Antimetabolites Phase 2,Phase 1
25 Alkylating Agents Phase 2
26 Dermatologic Agents Phase 2
27 Anti-Bacterial Agents Phase 2
28 Anti-Infective Agents Phase 2
29 Immunosuppressive Agents Phase 2,Phase 1
30 Antifungal Agents Phase 2
31 Antibiotics, Antitubercular Phase 2
32 Antimetabolites, Antineoplastic Phase 2,Phase 1
33 Antirheumatic Agents Phase 2
34 Calcineurin Inhibitors Phase 2
35 Antiviral Agents Phase 2
36 Vaccines Phase 1
37
Iron Approved 7439-89-6 23925
38
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
39
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
40
Betaine Approved, Nutraceutical 107-43-7 247
41
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
42
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
43
Creatine Approved, Nutraceutical 57-00-1 586
44 Gastrointestinal Agents
45 Hematinics
46 Trace Elements
47 Vitamin B 12
48 Vitamin B Complex
49 Vitamins
50 Hypolipidemic Agents

Interventional clinical trials:

(show all 28)
id Name Status NCT ID Phase
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
2 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Recruiting NCT01376778 Phase 3
3 Transfusion of Prematures Trial 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
6 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2
7 Study of GLS-5700 in Dengue Virus Seropositive Adults 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
11 Zika and Microcephaly: Case-control Study Completed NCT02741882
12 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II Completed NCT03139903
13 Fetal and Maternal Head Circumference During Pregnancy in Israeli Population Completed NCT02510170
14 Evaluation of Patients With Unresolved Chromosome Abnormalities Completed NCT00001639
15 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
16 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933
17 TOBY (TOtal Body hYpothermia): a Study of Treatment for Perinatal Asphyxia Completed NCT00147030
18 CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy Completed NCT00383305
19 Effectiveness of LNS and MNP Supplements to Prevent Malnutrition in Women and Their Children in Bangladesh Completed NCT01715038
20 Microcephaly Genetic Deficiency in Neural Progenitors Recruiting NCT01565005
21 Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero Recruiting NCT02943304
22 Zika Virus Infection's Pregnancy Consequences in French Department of America Recruiting NCT02916732
23 Zika Virus Infection's Neonatal and Pediatric Consequences in French Department of America Recruiting NCT02810210
24 Hypothermia for Encephalopathy in Low and Middle-Income Countries Trial Recruiting NCT02387385
25 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Not yet recruiting NCT02340871
26 Metabolic Study of Cockayne Syndrome Not yet recruiting NCT03044210
27 Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. Withdrawn NCT01151462
28 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Withdrawn NCT01907555

Search NIH Clinical Center for Microcephaly

Cochrane evidence based reviews: microcephaly

Genetic Tests for Microcephaly

Genetic tests related to Microcephaly:

id Genetic test Affiliating Genes
1 Microcephaly 29

Anatomical Context for Microcephaly

MalaCards organs/tissues related to Microcephaly:

39
Brain, Cortex, Heart, Bone, Skin, Cerebellum, Fetal Brain

Publications for Microcephaly

Articles related to Microcephaly:

(show top 50) (show all 816)
id Title Authors Year
1
Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing. ( 27784895 )
2017
2
Microcephaly and Zika Virus Infection. ( 27941545 )
2017
3
Microcephaly and arthrogryposis multiplex congenita: The full-blown CNS spectrum in newborns with ZIKV infection. ( 28017252 )
2017
4
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. ( 28493438 )
2017
5
Computational identification of mutually homologous Zika virus miRNAs that target microcephaly genes. ( 28385119 )
2017
6
Diagnostic Approach to Primary Microcephaly. ( 28470649 )
2017
7
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. ( 28296084 )
2017
8
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly. ( 28440900 )
2017
9
Microcephaly Case Fatality Rate Associated with Zika Virus Infection in Brazil: Current Estimates. ( 28403061 )
2017
10
Autosomal Recessive Primary Microcephaly (MCPH): An Update. ( 28399591 )
2017
11
De Novo Generation and Characterization of New Zika Virus Isolate Using Sequence Data from a Microcephaly Case. ( 28529976 )
2017
12
Clinical-epidemiological description of live births with microcephaly in the state of Sergipe, Brazil, 2015. ( 28492766 )
2017
13
Zika-related microcephaly in experimental models. ( 28417097 )
2017
14
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. ( 27670155 )
2017
15
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
16
Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. ( 28431838 )
2017
17
Nonmicrocephalic Infants with Congenital Zika Syndrome Suspected Only after Neuroimaging Evaluation Compared with Those with Microcephaly at Birth and Postnatally: How Large Is the Zika Virus "Iceberg"? ( 28522665 )
2017
18
Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly. ( 28422950 )
2017
19
Microcephaly with generalized dystonia: Exception to the rule. ( 28488652 )
2017
20
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. ( 28334956 )
2017
21
Immune activation in amniotic fluid from Zika virus-associated microcephaly. ( 27977881 )
2017
22
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. ( 28257693 )
2017
23
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. ( 27860360 )
2017
24
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
25
NEW FINDINGS FROM MULTIMODAL FUNDUS IMAGING OVER 3 YEARS OF A PATIENT WITH MICROCEPHALY, CHORIORETINOPATHY, AND KIF11 MUTATION. ( 28085761 )
2017
26
Zika Virus-Induced Microcephaly and Its Possible Molecular Mechanism. ( 28081529 )
2017
27
Transfer of convalescent serum to pregnant mice prevents Zika virus infection and microcephaly in offspring. ( 27922617 )
2017
28
Severe congenital microcephaly with AP4M1 mutation, a case report. ( 28464862 )
2017
29
Neurodevelopmental Outcomes in 22 Children With Microcephaly of Different Etiologies. ( 28482742 )
2017
30
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. ( 28327570 )
2017
31
Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement. ( 28449981 )
2017
32
Pregnant women carrying microcephaly foetuses and Zika virus contain potentially pathogenic microbes and parasites in their amniotic fluid. ( 28077143 )
2017
33
Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015. ( 28446117 )
2017
34
The larvicide pyriproxyfen blamed during the Zika virus outbreak does not cause microcephaly in zebrafish embryos. ( 28051181 )
2017
35
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ( 28280135 )
2017
36
Achalasia-microcephaly syndrome: a further case report. ( 28471776 )
2017
37
Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report. ( 27495810 )
2016
38
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. ( 27648472 )
2016
39
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. ( 27250695 )
2016
40
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family. ( 27000257 )
2016
41
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. ( 27075597 )
2016
42
Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly. ( 27618312 )
2016
43
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. ( 28004182 )
2016
44
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. ( 27974163 )
2016
45
Hearing Loss in Infants with Microcephaly and Evidence of Congenital Zika Virus Infection - Brazil, November 2015-May 2016. ( 27585248 )
2016
46
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. ( 26843564 )
2016
47
First clinical report of an infant with microcephaly and CASC5 mutations. ( 27149178 )
2016
48
Zika virus and microcephaly: is the correlation causal or coincidental? ( 27196544 )
2016
49
Zika virus infection during pregnancy and microcephaly occurrence: a review of literature and Brazilian data. ( 27102780 )
2016
50
Positive IgM for Zika virus in the cerebrospinal fluid of 30 neonates with microcephaly in Brazil. ( 27103126 )
2016

Variations for Microcephaly

ClinVar genetic disease variations for Microcephaly:

6 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
2 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh37 Chromosome 1, 12052716: 12052716
3 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
4 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic,risk factor rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
5 PQBP1 NM_005710.2(PQBP1): c.459_462delAGAG (p.Arg153Serfs) deletion Pathogenic rs606231194 GRCh38 Chromosome X, 48902399: 48902402
6 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
7 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
8 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh37 Chromosome 3, 48612651: 48612651
9 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
10 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
11 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh38 Chromosome 21, 37486563: 37486563
12 DYRK1A NM_001396.3(DYRK1A): c.621_624delTGAGinsGAA (p.Glu208Asnfs) indel Pathogenic rs724159950 GRCh38 Chromosome 21, 37486571: 37486574
13 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
14 DYRK1A NM_001396.4(DYRK1A): c.844dupA (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
15 DYRK1A NM_001396.4(DYRK1A): c.945dupG (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
16 DYRK1A NM_001396.4(DYRK1A): c.1232dupG (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
17 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
18 covers 24 genes, none of which curated to show dosage sensitivity NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 116681080: 119775014
19 DIAPH1 NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 GRCh38 Chromosome 5, 141573518: 141573518
20 AP4M1 NM_004722.3(AP4M1): c.952C> T (p.Arg318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882249 GRCh38 Chromosome 7, 100105981: 100105981
21 SLC2A1 NM_006516.2(SLC2A1): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80359826 GRCh37 Chromosome 1, 43394689: 43394689
22 ANKLE2 NM_015114.2(ANKLE2): c.2344C> T (p.Gln782Ter) single nucleotide variant Pathogenic rs201785518 GRCh37 Chromosome 12, 133306404: 133306404
23 ANKLE2 NM_015114.2(ANKLE2): c.1717C> G (p.Leu573Val) single nucleotide variant Pathogenic/Likely pathogenic rs863225465 GRCh37 Chromosome 12, 133311145: 133311145
24 HDAC8 NM_018486.2(HDAC8): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs886041936 GRCh37 Chromosome X, 71715060: 71715060
25 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh38 Chromosome 1, 42930672: 42930672
26 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh38 Chromosome 2, 216415427: 216415427
27 VPS13B NM_017890.4(VPS13B): c.4620delA (p.Ser1541Profs) deletion Pathogenic rs1057518939 GRCh37 Chromosome 8, 100523652: 100523652
28 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh37 Chromosome 3, 47888040: 47888040
29 DHX30 NM_138615.2(DHX30): c.2344C> T (p.Arg782Trp) single nucleotide variant Pathogenic rs753242774 GRCh37 Chromosome 3, 47889727: 47889727
30 DHX30 NM_138615.2(DHX30): c.1685A> G (p.His562Arg) single nucleotide variant Pathogenic rs1060499733 GRCh37 Chromosome 3, 47888247: 47888247
31 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)
id 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:

id Super pathways Score Top Affiliating Genes
1 10.18 NBN PNKP XRCC4

GO Terms for Microcephaly

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.86 ASPM CDK5RAP2 CENPJ CEP152 MCPH1 SASS6
2 centrosome GO:0005813 9.63 CDK5RAP2 CENPJ CEP152 SASS6 STIL WDR62
3 microtubule organizing center GO:0005815 9.43 CDK5RAP2 CENPJ CEP152 MCPH1 SASS6 WDR62
4 pericentriolar material GO:0000242 9.4 CDK5RAP2 CEP152
5 mitotic spindle pole GO:0097431 9.37 ASPM CDK5RAP2
6 deuterosome GO:0098536 9.32 CEP152 SASS6
7 centriole GO:0005814 9.02 CENPJ CEP152 SASS6 STIL WDR62

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

id Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.61 CDK5RAP2 CENPJ CEP152
2 ciliary basal body docking GO:0097711 9.5 CDK5RAP2 CENPJ CEP152
3 cerebral cortex development GO:0021987 9.43 ASPM MCPH1 WDR62
4 neuronal stem cell population maintenance GO:0097150 9.4 ASPM MCPH1
5 protein localization to centrosome GO:0071539 9.37 MCPH1 STIL
6 centrosome duplication GO:0051298 9.26 CENPJ CEP152 SASS6 STIL
7 regulation of centriole replication GO:0046599 9.16 CENPJ STIL
8 centriole replication GO:0007099 9.02 CDK5RAP2 CENPJ CEP152 SASS6 WDR62

Sources for Microcephaly

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