MCID: MCR010
MIFTS: 57

Microcephaly

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

Aliases & Classifications for Microcephaly

MalaCards integrated aliases for Microcephaly:

Name: Microcephaly 12 76 53 54 29 55 6 3 44 15 40 73
Microencephaly 12 76 53
Microcephalus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10907
ICD10 33 Q02
ICD9CM 35 742.1
MeSH 44 D008831
NCIt 50 C85874
UMLS 73 C0025958

Summaries for Microcephaly

NINDS : 54 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 alacrima, achalasia, and mental retardation syndrome and sc phocomelia syndrome. An important gene associated with Microcephaly is NBN (Nibrin), and among its related pathways/superpathways is Mitotic Telophase/Cytokinesis. The drugs Magnesium Sulfate and Atosiban 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 : 53 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 Click here to view a larger image

Wikipedia : 76 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, 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 Autosomal Recessive Primary Microcephaly

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

(show top 50) (show all 809)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 31.5 ATP2B3 DHX30 DYRK1A SLC2A1 VPS13B
2 sc phocomelia syndrome 30.4 NIPBL SMC1A
3 seizure disorder 30.0 DHX30 DYRK1A POGZ SLC2A1 STXBP1
4 strabismus 28.9 DHX30 POGZ STXBP1
5 microcephaly, amish type 12.3
6 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.3
7 microcephaly, autosomal dominant 12.2
8 microcephaly 1, primary, autosomal recessive 12.2
9 autosomal recessive primary microcephaly 12.2
10 microcephaly-capillary malformation syndrome 12.2
11 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.1
12 achalasia-microcephaly syndrome 12.1
13 microcephaly 5, primary, autosomal recessive 12.1
14 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 12.1
15 microcephaly, seizures, and developmental delay 12.1
16 microcephaly-micromelia syndrome 12.1
17 microcephaly-cardiomyopathy 12.0
18 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.0
19 microcephaly microcornea syndrome seemanova type 12.0
20 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.0
21 microcephaly 4, primary, autosomal recessive 12.0
22 microcephaly 9, primary, autosomal recessive 12.0
23 microcephaly, postnatal progressive, with seizures and brain atrophy 12.0
24 radioulnar synostosis-microcephaly-scoliosis syndrome 12.0
25 microcephaly, epilepsy, and diabetes syndrome 12.0
26 microcephaly and chorioretinopathy, autosomal recessive, 2 12.0
27 seizures, cortical blindness, and microcephaly syndrome 12.0
28 microcephaly and chorioretinopathy, autosomal recessive, 1 12.0
29 microcephaly 10, primary, autosomal recessive 12.0
30 lissencephaly 6 with microcephaly 12.0
31 epiphyseal dysplasia, microcephaly, and nystagmus 12.0
32 microcephaly 6, primary, autosomal recessive 12.0
33 microcephaly, short stature, and impaired glucose metabolism 1 12.0
34 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 12.0
35 congenital ichthyosis-microcephalus-tetraplegia syndrome 12.0
36 short stature, microcephaly, and endocrine dysfunction 11.9
37 microcephaly, short stature, and limb abnormalities 11.9
38 microcephaly 3, primary, autosomal recessive 11.9
39 microcephaly 7, primary, autosomal recessive 11.9
40 microcephaly 8, primary, autosomal recessive 11.9
41 microcephaly 11, primary, autosomal recessive 11.9
42 microcephaly 13, primary, autosomal recessive 11.9
43 microcephaly 12, primary, autosomal recessive 11.9
44 microcephaly, seizures, spasticity, and brain calcifications 11.9
45 microcephaly 17, primary, autosomal recessive 11.9
46 microcephaly 18, primary, autosomal dominant 11.9
47 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 11.9
48 short stature with microcephaly and distinctive facies 11.9
49 microcephaly and chorioretinopathy, autosomal recessive, 3 11.9
50 microcephaly 14, primary, autosomal recessive 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 MFN2 NBN NIPBL SBDS SLC2A1 SMARCAL1
2 growth/size/body region MP:0005378 9.93 ASPM CC2D2A COL7A1 DHX30 DYRK1A HDAC8
3 embryo MP:0005380 9.91 CC2D2A DHX30 DYRK1A HDAC8 MFN2 NBN
4 mortality/aging MP:0010768 9.77 COL7A1 DHX30 DYRK1A HDAC8 MFN2 NBN
5 nervous system MP:0003631 9.32 ASPM CC2D2A DHX30 DYRK1A HDAC8 MFN2

Drugs & Therapeutics for Microcephaly

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

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
2 Atosiban Approved, Investigational Phase 3 90779-69-4
3 Analgesics Phase 3
4 Anesthetics Phase 3
5 Anti-Arrhythmia Agents Phase 3
6 Anticonvulsants Phase 3
7 calcium channel blockers Phase 3
8 Calcium, Dietary Phase 3
9 Central Nervous System Depressants Phase 3
10 Peripheral Nervous System Agents Phase 3
11 Tocolytic Agents Phase 3
12 Antibodies Phase 3
13 gamma-Globulins Phase 3
14 Immunoglobulin G Phase 3
15 Immunoglobulins Phase 3
16 Immunoglobulins, Intravenous Phase 3
17 Rho(D) Immune Globulin Phase 3
18 Hormone Antagonists Phase 3
19 Hormones Phase 3
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
21 Oxytocics Phase 3
22 Vasoconstrictor Agents Phase 3
23 Vasotocin Phase 3
24
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
25
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
26
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
27
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
28
Mycophenolic acid Approved Phase 2 24280-93-1 446541
29
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
30 Antimetabolites Phase 2,Phase 1,Not Applicable
31 Alkylating Agents Phase 2
32 Anti-Bacterial Agents Phase 2
33 Antibiotics, Antitubercular Phase 2
34 Antifungal Agents Phase 2
35 Anti-Infective Agents Phase 2
36 Antimetabolites, Antineoplastic Phase 2,Phase 1
37 Antirheumatic Agents Phase 2
38 Antitubercular Agents Phase 2
39 Antiviral Agents Phase 2
40 Calcineurin Inhibitors Phase 2
41 Cyclosporins Phase 2
42 Dermatologic Agents Phase 2
43 Immunosuppressive Agents Phase 2,Phase 1
44 Antihypertensive Agents Phase 2
45 Vaccines Phase 1
46
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
47
Iron Approved Not Applicable 7439-89-6 23925
48 Vedolizumab Approved 943609-66-3
49
Betaine Approved, Nutraceutical Not Applicable 107-43-7 247
50
Creatine Approved, Investigational, Nutraceutical Not Applicable 57-00-1 586

Interventional clinical trials:

(show all 42)
# 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) Active, not recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
3 Transfusion of Prematures Trial Active, not recruiting NCT01702805 Phase 3
4 Follow up Study to Assess Long Term Safety and Outcomes in Infants and Children Born to Mothers Participating in Retosiban Treatment Studies Active, not recruiting NCT02292784 Phase 3 Retosiban;Atosiban;Placebo
5 Whole Body Cooling Using Phase Changing Material Unknown status NCT01138176 Phase 1, Phase 2
6 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
7 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
8 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
9 Study of GLS-5700 in Dengue Virus Seropositive Adults Active, not recruiting NCT02887482 Phase 1
10 Study of GLS-5700 in Healthy Volunteers Active, not recruiting NCT02809443 Phase 1
11 Safety and Immunogenicity of a Zika Virus DNA Vaccine, VRC-ZKADNA085-00-VP, in Healthy Adults Active, not recruiting NCT02840487 Phase 1
12 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
13 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871
14 Zika and Microcephaly: Case-control Study Completed NCT02741882
15 Microcephaly Genetic Deficiency in Neural Progenitors Completed NCT01565005
16 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II Completed NCT03139903
17 Fetal and Maternal Head Circumference During Pregnancy in Israeli Population Completed NCT02510170
18 Evaluation of Patients With Unresolved Chromosome Abnormalities Completed NCT00001639
19 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
20 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Not Applicable Betaine;Creatine;Metafolin;Vitamin B12
21 TOBY (TOtal Body hYpothermia): a Study of Treatment for Perinatal Asphyxia Completed NCT00147030 Not Applicable
22 Effectiveness of LNS and MNP Supplements to Prevent Malnutrition in Women and Their Children in Bangladesh Completed NCT01715038 Not Applicable
23 CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy Completed NCT00383305 Not Applicable
24 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Completed NCT01907555
25 Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF) Recruiting NCT03255369
26 Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero Recruiting NCT02943304
27 Zika Virus Infection's Pregnancy Consequences in French Department of America Recruiting NCT02916732
28 The VTCRI Neuromotor Research Clinic Recruiting NCT03325946
29 The Safety Assessment of Vedolizumab During Pregnancy in IBD Patient Recruiting NCT02617927
30 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210 Not Applicable
31 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
32 Immunological Characteristics of Maternal-fetal Transmission of Cytomegalovirus in Pregnancy Recruiting NCT02129465
33 Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies Recruiting NCT03056794
34 Zika Virus Infection's Neonatal and Pediatric Consequences in French Department of America Recruiting NCT02810210
35 Zika in Infants and Pregnancy (ZIP) Recruiting NCT02856984
36 Hypothermia for Encephalopathy in Low and Middle-Income Countries Trial Recruiting NCT02387385 Not Applicable
37 Surveillance Monitoring for ART Toxicities Study in HIV Uninfected Children Born to HIV Infected Women Recruiting NCT01310023
38 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
39 Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome Enrolling by invitation NCT03330600 Not Applicable
40 New Variants Involved in Taybi-Linder Syndrome Not yet recruiting NCT03222947
41 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Not yet recruiting NCT03548779 Not Applicable
42 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 29

Anatomical Context for Microcephaly

MalaCards organs/tissues related to Microcephaly:

41
Brain, Cortex, Bone, Heart, Bone Marrow, Skin, Cerebellum

Publications for Microcephaly

Articles related to Microcephaly:

(show top 50) (show all 914)
# Title Authors Year
1
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. ( 29883675 )
2018
2
Zika Virus Infection, Pregnancy and Microcephaly. ( 29341036 )
2018
3
In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus. ( 29311619 )
2018
4
Analysis of Denver Neurodevelopmental Screening Test Results of Myelomeningocele, Hydrocephalus, and Microcephaly Patients. ( 29899768 )
2018
5
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. ( 29370840 )
2018
6
Microcephaly epidemic related to the Zika virus and living conditions in Recife, Northeast Brazil. ( 29329574 )
2018
7
Alterations in the primary teeth of children with microcephaly in Northeast Brazil: a comparative study. ( 29968396 )
2018
8
Biallelic variants in KIF14 cause intellectual disability with microcephaly. ( 29343805 )
2018
9
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. ( 29902590 )
2018
10
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. ( 29617172 )
2018
11
Pre-Zika Microcephaly in Brazil: Closer to the Elusive Baseline and New Questions Raised. ( 29305392 )
2018
12
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. ( 29882329 )
2018
13
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. ( 29504900 )
2018
14
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. ( 29356416 )
2018
15
Chornobyl, radiation, neural tube defects, and microcephaly. ( 29908351 )
2018
16
Cerebrospinal fluid aspects of neonates with or without microcephaly born to mothers with gestational Zika virus clinical symptoms. ( 29432825 )
2018
17
Diagnostic approach to fetal microcephaly. ( 29970280 )
2018
18
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. ( 29967526 )
2018
19
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. ( 29907875 )
2018
20
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. ( 29452367 )
2018
21
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 29243349 )
2018
22
Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn. ( 29967080 )
2018
23
Whole exome sequencing identifies a novel 5a8^Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures. ( 29920362 )
2018
24
Microcephaly in PiauA-, Brazil: descriptive study during the Zika virus epidemic, 2015-2016. ( 29412347 )
2018
25
Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review. ( 29656294 )
2018
26
Functioning and Disability Profile of Children with Microcephaly Associated with Congenital Zika Virus Infection. ( 29844290 )
2018
27
Niclosamide rescues microcephaly in a humanized<i>in vivo</i>model of Zika infection using human induced neural stem cells. ( 29378701 )
2018
28
Auditory brainstem function in microcephaly related to Zika virus infection. ( 29352094 )
2018
29
Surveillance of microcephaly and selected brain anomalies in Argentina: Relationship with Zika virus and other congenital infections. ( 29921033 )
2018
30
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. ( 29346415 )
2018
31
Geography of Microcephaly in the Zika Era: A Study of Newborn Distribution and Socio-environmental Indicators in Recife, Brazil, 2015-2016. ( 29920225 )
2018
32
Clinical and epidemiological aspects of microcephaly in the state of PiauA-, northeastern Brazil, 2015-2016. ( 29963988 )
2018
33
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. ( 29899504 )
2018
34
Congenital Zika infection: neurology can occur without microcephaly. ( 29858269 )
2018
35
Reply to: Zika Virus Infection, Pregnancy and Microcephaly. ( 29341037 )
2018
36
Same but different: pleiotropy in centrosome-related microcephaly. ( 29382806 )
2018
37
STIL balancing primary microcephaly and cancer. ( 29352115 )
2018
38
Fetal microcephaly. ( 29866660 )
2018
39
Does Zika Virus Really Causes Microcephaly in Children Whose Mothers Became Infected with the Virus during Their Pregnancy? ( 29900151 )
2018
40
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report. ( 29801510 )
2018
41
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. ( 29426960 )
2018
42
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. ( 29691655 )
2018
43
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). ( 28783747 )
2017
44
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. ( 28837161 )
2017
45
Diagnostic Approach to Primary Microcephaly. ( 28470649 )
2017
46
Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015. ( 28446117 )
2017
47
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. ( 28612833 )
2017
48
Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management. ( 28844634 )
2017
49
Pregnant women carrying microcephaly foetuses and Zika virus contain potentially pathogenic microbes and parasites in their amniotic fluid. ( 28077143 )
2017
50
Ocular findings in patients with microcephaly can suggest presumed congenital zika virus infection. ( 28834250 )
2017

Variations for Microcephaly

ClinVar genetic disease variations for Microcephaly:

6
(show top 50) (show all 199)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
2 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh38 Chromosome 17, 75522000: 75522000
3 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh37 Chromosome 1, 12052716: 12052716
4 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh38 Chromosome 1, 11992659: 11992659
5 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
6 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh38 Chromosome 7, 66994210: 66994210
7 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
8 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh38 Chromosome 2, 216478216: 216478216
9 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
10 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic rs587776650 GRCh38 Chromosome 8, 89971214: 89971218
11 PQBP1 NM_005710.2(PQBP1): c.459_462delAGAG (p.Arg153Serfs) deletion Pathogenic rs606231194 GRCh38 Chromosome X, 48902399: 48902402
12 PQBP1 NM_005710.2(PQBP1): c.459_462delAGAG (p.Arg153Serfs) deletion Pathogenic rs606231194 GRCh37 Chromosome X, 48759676: 48759679
13 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
14 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh38 Chromosome X, 154031409: 154031409
15 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
16 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh38 Chromosome 3, 48592915: 48592915
17 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh37 Chromosome 3, 48612651: 48612651
18 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh38 Chromosome 3, 48575218: 48575218
19 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
20 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
21 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
22 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh38 Chromosome 8, 99868312: 99868312
23 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs386834070 GRCh37 Chromosome 8, 100146872: 100146872
24 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs386834070 GRCh38 Chromosome 8, 99134644: 99134644
25 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
26 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh38 Chromosome 21, 37486563: 37486563
27 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh37 Chromosome 21, 38858865: 38858865
28 DYRK1A NM_001396.3(DYRK1A): c.621_624delTGAGinsGAA (p.Glu208Asnfs) indel Pathogenic rs724159950 GRCh38 Chromosome 21, 37486571: 37486574
29 DYRK1A NM_001396.3(DYRK1A): c.621_624delTGAGinsGAA (p.Glu208Asnfs) indel Pathogenic rs724159950 GRCh37 Chromosome 21, 38858873: 38858876
30 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
31 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh37 Chromosome 21, 38862575: 38862575
32 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
33 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh37 Chromosome 21, 38862656: 38862656
34 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
35 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh37 Chromosome 21, 38862757: 38862757
36 DYRK1A NM_001396.3(DYRK1A): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs724159951 GRCh38 Chromosome 21, 37493101: 37493101
37 DYRK1A NM_001396.3(DYRK1A): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs724159951 GRCh37 Chromosome 21, 38865403: 38865403
38 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
39 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh37 Chromosome 21, 38868553: 38868553
40 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
41 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh37 Chromosome 21, 38877655: 38877655
42 DYRK1A NM_001396.3(DYRK1A): c.1763C> A (p.Thr588Asn) single nucleotide variant Likely pathogenic rs724159955 GRCh38 Chromosome 21, 37512002: 37512002
43 DYRK1A NM_001396.3(DYRK1A): c.1763C> A (p.Thr588Asn) single nucleotide variant Likely pathogenic rs724159955 GRCh37 Chromosome 21, 38884305: 38884305
44 EPM2A NM_005670.3(EPM2A): c.376A> G (p.Ile126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150452237 GRCh37 Chromosome 6, 146007358: 146007358
45 EPM2A NM_005670.3(EPM2A): c.376A> G (p.Ile126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150452237 GRCh38 Chromosome 6, 145686222: 145686222
46 SMC1A NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del) deletion Pathogenic rs727503773 GRCh37 Chromosome X, 53439900: 53439902
47 SMC1A NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del) deletion Pathogenic rs727503773 GRCh38 Chromosome X, 53412950: 53412952
48 covers 24 genes, none of which curated to show dosage sensitivity NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 116681080: 119775014
49 PCDHB4 NM_018938.3(PCDHB4): c.915delA (p.Lys305Asnfs) deletion Likely pathogenic rs372292910 GRCh38 Chromosome 5, 141122913: 141122913
50 PCDHB4 NM_018938.3(PCDHB4): c.915delA (p.Lys305Asnfs) deletion Likely pathogenic rs372292910 GRCh37 Chromosome 5, 140502495: 140502495

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
10.04 NIPBL SMC1A

GO Terms for Microcephaly

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.73 CC2D2A DHX30 FLG HDAC8 MFN2 NBN
2 nucleoplasm GO:0005654 9.32 DYRK1A HDAC8 NBN NIPBL POGZ PQBP1
3 mitotic spindle pole GO:0097431 9.16 ASPM SMC1A
4 nucleus GO:0005634 10.07 ASPM DHX30 DYRK1A FLG HDAC8 NBN

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

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.62 ANKLE2 ASPM POGZ SMC1A
2 cell cycle GO:0007049 9.43 ANKLE2 ASPM NBN NIPBL POGZ SMC1A
3 developmental growth GO:0048589 9.26 ASPM NIPBL
4 t-circle formation GO:0090656 9.16 NBN SMARCAL1
5 mitotic sister chromatid cohesion GO:0007064 8.8 NIPBL POGZ SMC1A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 ANKLE2 ASPM ATP2B3 COL7A1 DHX30 DYRK1A
2 protein N-terminus binding GO:0047485 9.33 NBN NIPBL STXBP1
3 mediator complex binding GO:0036033 8.62 NIPBL SMC1A

Sources for Microcephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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