MCID: MCR010
MIFTS: 55

Microcephaly

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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
Microcephaly Syndrome 37
Microcephalus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10907
ICD10 33 Q02
ICD9CM 35 742.1
MeSH 44 D008831
NCIt 50 C85874
SNOMED-CT 68 1829003
KEGG 37 H02132
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 mental retardation and microcephaly with pontine and cerebellar hypoplasia and white-sutton syndrome. An important gene associated with Microcephaly is ASPM (Abnormal Spindle Microtubule Assembly). 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 Increased viability and Decreased CDKN1A mRNA expression

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 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 854)
# Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 33.9 POGZ TSEN54
2 white-sutton syndrome 32.3 MECP2 POGZ
3 renpenning syndrome 1 32.2 MECP2 PQBP1
4 chromosome 16p13.3 deletion syndrome, proximal 32.0 MECP2 VPS13B
5 alacrima, achalasia, and mental retardation syndrome 31.2 ATP2B3 DHX30 DYRK1A MECP2 SLC2A1 VPS13B
6 syndromic intellectual disability 30.5 DYRK1A MECP2 POGZ PQBP1
7 hypertonia 29.8 AP4M1 SMC1A TSEN54
8 strabismus 29.7 AP4M1 DHX30 POGZ
9 microcephaly, amish type 12.5
10 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.4
11 microcephaly 1, primary, autosomal recessive 12.4
12 microcephaly, autosomal dominant 12.4
13 microcephaly-capillary malformation syndrome 12.3
14 primary autosomal recessive microcephaly 12.3
15 microcephaly 5, primary, autosomal recessive 12.3
16 primary microcephaly 12.3
17 microcephaly, seizures, and developmental delay 12.3
18 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 12.2
19 microcephaly and chorioretinopathy, autosomal recessive, 1 12.2
20 achalasia-microcephaly syndrome 12.2
21 microcephaly-micromelia syndrome 12.2
22 microcephaly-cardiomyopathy 12.2
23 microcephaly 4, primary, autosomal recessive 12.2
24 microcephaly, postnatal progressive, with seizures and brain atrophy 12.2
25 microcephaly 9, primary, autosomal recessive 12.2
26 microcephaly 10, primary, autosomal recessive 12.2
27 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.2
28 microcephaly microcornea syndrome seemanova type 12.2
29 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.2
30 microcephaly 6, primary, autosomal recessive 12.2
31 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 12.2
32 radioulnar synostosis-microcephaly-scoliosis syndrome 12.1
33 microcephaly 3, primary, autosomal recessive 12.1
34 microcephaly 7, primary, autosomal recessive 12.1
35 microcephaly, epilepsy, and diabetes syndrome 12.1
36 microcephaly 8, primary, autosomal recessive 12.1
37 microcephaly 11, primary, autosomal recessive 12.1
38 microcephaly 13, primary, autosomal recessive 12.1
39 microcephaly 12, primary, autosomal recessive 12.1
40 microcephaly and chorioretinopathy, autosomal recessive, 2 12.1
41 seizures, cortical blindness, and microcephaly syndrome 12.1
42 microcephaly 17, primary, autosomal recessive 12.1
43 microcephaly 18, primary, autosomal dominant 12.1
44 lissencephaly 6 with microcephaly 12.1
45 epiphyseal dysplasia, microcephaly, and nystagmus 12.1
46 microcephaly 14, primary, autosomal recessive 12.1
47 microcephaly 15, primary, autosomal recessive 12.1
48 microcephaly 16, primary, autosomal recessive 12.1
49 microcephaly, short stature, and impaired glucose metabolism 1 12.1
50 congenital ichthyosis-microcephalus-tetraplegia syndrome 12.1

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to Microcephaly

Symptoms & Phenotypes for Microcephaly

GenomeRNAi Phenotypes related to Microcephaly according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.36 AP4M1 ATP2B3 DIAPH1 DYRK1A FLG GEMIN4
2 Decreased CDKN1A mRNA expression GR00389-S-2 8.96 MECP2 SMC1A

Drugs & Therapeutics for Microcephaly

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

(show top 50) (show all 69)
# 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 2, Phase 3 90779-69-4
3 Calcium, Dietary Phase 3
4 Central Nervous System Depressants Phase 3
5 calcium channel blockers Phase 3
6 Anti-Arrhythmia Agents Phase 3
7 Anesthetics Phase 3
8 Tocolytic Agents Phase 3,Phase 2
9 Peripheral Nervous System Agents Phase 3
10 Anticonvulsants Phase 3
11 Analgesics Phase 3
12 Vasoconstrictor Agents Phase 2, Phase 3
13 Oxytocics Phase 2, Phase 3
14 Vasotocin Phase 2, Phase 3
15 Hormone Antagonists Phase 2, Phase 3
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
17 Hormones Phase 2, Phase 3
18 Immunoglobulin G Phase 3
19 Antibodies Phase 3,Not Applicable
20 Immunoglobulins, Intravenous Phase 3
21 gamma-Globulins Phase 3
22 Rho(D) Immune Globulin Phase 3
23 Immunoglobulins Phase 3,Not Applicable
24
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
25
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
28
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
29
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
30 Antimetabolites Phase 2,Phase 1,Not Applicable
31 Antitubercular Agents Phase 2
32 Alkylating Agents Phase 2
33 Calcineurin Inhibitors Phase 2
34 Antiviral Agents Phase 2
35 Cyclosporins Phase 2
36 Antimetabolites, Antineoplastic Phase 2,Phase 1
37 Immunosuppressive Agents Phase 2,Phase 1
38 Antifungal Agents Phase 2
39 Dermatologic Agents Phase 2
40 Antirheumatic Agents Phase 2
41 Immunologic Factors Phase 2,Phase 1
42 Anti-Infective Agents Phase 2
43 Antibiotics, Antitubercular Phase 2
44 Anti-Bacterial Agents Phase 2
45 Antihypertensive Agents Phase 2
46 Vaccines Phase 1,Not Applicable
47
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
48
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
49
Iron Approved Not Applicable 7439-89-6 23925
50
leucovorin Approved Not Applicable 58-05-9 6006 143

Interventional clinical trials:

(show all 45)
# 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 Follow up Study to Assess Long Term Safety and Outcomes in Infants and Children Born to Mothers Participating in Retosiban Treatment Studies Recruiting NCT02292784 Phase 2, Phase 3 Retosiban;Atosiban;Placebo
3 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Active, not recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
4 Transfusion of Prematures Trial Active, not recruiting NCT01702805 Phase 3
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 Completed NCT02887482 Phase 1
10 Study of GLS-5700 in Healthy Volunteers Completed 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 Zika Virus Infection's Pregnancy Consequences in French Department of America Unknown status NCT02916732
14 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871
15 Zika Virus Infection's Neonatal and Pediatric Consequences in French Department of America Unknown status NCT02810210
16 Zika and Microcephaly: Case-control Study Completed NCT02741882
17 Microcephaly Genetic Deficiency in Neural Progenitors Completed NCT01565005
18 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II Completed NCT03139903
19 Sensorimotor Outcomes of Children Exposed to Foetal Zika Virus Infection Completed NCT03679728
20 Fetal and Maternal Head Circumference During Pregnancy in Israeli Population Completed NCT02510170
21 Evaluation of Patients With Unresolved Chromosome Abnormalities Completed NCT00001639
22 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
23 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Not Applicable Betaine;Creatine;Metafolin;Vitamin B12
24 TOBY (TOtal Body hYpothermia): a Study of Treatment for Perinatal Asphyxia Completed NCT00147030 Not Applicable
25 Effectiveness of LNS and MNP Supplements to Prevent Malnutrition in Women and Their Children in Bangladesh Completed NCT01715038 Not Applicable
26 CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy Completed NCT00383305 Not Applicable
27 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Completed NCT01907555
28 Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM) Recruiting NCT03651687
29 Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF) Recruiting NCT03255369
30 Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero Recruiting NCT02943304
31 The VTCRI Neuromotor Research Clinic Recruiting NCT03325946
32 The Safety Assessment of Vedolizumab During Pregnancy in IBD Patient Recruiting NCT02617927
33 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210 Not Applicable
34 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
35 Immunological Characteristics of Maternal-fetal Transmission of Cytomegalovirus in Pregnancy Recruiting NCT02129465
36 Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies Recruiting NCT03056794
37 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Recruiting NCT03548779 Not Applicable
38 Zika in Infants and Pregnancy (ZIP) Recruiting NCT02856984
39 Hypothermia for Encephalopathy in Low and Middle-Income Countries Trial Recruiting NCT02387385 Not Applicable
40 Surveillance Monitoring for ART Toxicities Study in HIV Uninfected Children Born to HIV Infected Women Recruiting NCT01310023
41 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
42 Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome Enrolling by invitation NCT03330600 Not Applicable
43 New Variants Involved in Taybi-Linder Syndrome Not yet recruiting NCT03222947
44 A Study of Outcomes and Events of Interest in Pregnant Women, Neonates and Infants and of RSV Surveillance Not yet recruiting NCT03614676 Not Applicable
45 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, Fetal Brain, Skin, Testes

Publications for Microcephaly

Articles related to Microcephaly:

(show top 50) (show all 1299)
# Title Authors Year
1
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 30556632 )
2019
2
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. ( 29883675 )
2018
3
Zika Virus Infection, Pregnancy and Microcephaly. ( 29341036 )
2018
4
In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus. ( 29311619 )
2018
5
Analysis of Denver Neurodevelopmental Screening Test Results of Myelomeningocele, Hydrocephalus, and Microcephaly Patients. ( 29899768 )
2018
6
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. ( 29370840 )
2018
7
Microcephaly epidemic related to the Zika virus and living conditions in Recife, Northeast Brazil. ( 29329574 )
2018
8
Alterations in the primary teeth of children with microcephaly in Northeast Brazil: a comparative study. ( 29968396 )
2018
9
Biallelic variants in KIF14 cause intellectual disability with microcephaly. ( 29343805 )
2018
10
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
11
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. ( 29617172 )
2018
12
Pre-Zika Microcephaly in Brazil: Closer to the Elusive Baseline and New Questions Raised. ( 29305392 )
2018
13
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. ( 29882329 )
2018
14
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. ( 29504900 )
2018
15
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. ( 29356416 )
2018
16
Chornobyl, radiation, neural tube defects, and microcephaly. ( 29908351 )
2018
17
Cerebrospinal fluid aspects of neonates with or without microcephaly born to mothers with gestational Zika virus clinical symptoms. ( 29432825 )
2018
18
Diagnostic approach to fetal microcephaly. ( 29970280 )
2018
19
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. ( 29967526 )
2018
20
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. ( 29907875 )
2018
21
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. ( 29452367 )
2018
22
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 29243349 )
2018
23
Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn. ( 29967080 )
2018
24
Whole exome sequencing identifies a novel 5a8^Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures. ( 29920362 )
2018
25
Microcephaly in PiauA-, Brazil: descriptive study during the Zika virus epidemic, 2015-2016. ( 29412347 )
2018
26
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
27
Functioning and Disability Profile of Children with Microcephaly Associated with Congenital Zika Virus Infection. ( 29844290 )
2018
28
Niclosamide rescues microcephaly in a humanized<i>in vivo</i>model of Zika infection using human induced neural stem cells. ( 29378701 )
2018
29
Auditory brainstem function in microcephaly related to Zika virus infection. ( 29352094 )
2018
30
Surveillance of microcephaly and selected brain anomalies in Argentina: Relationship with Zika virus and other congenital infections. ( 29921033 )
2018
31
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. ( 29346415 )
2018
32
Geography of Microcephaly in the Zika Era: A Study of Newborn Distribution and Socio-environmental Indicators in Recife, Brazil, 2015-2016. ( 29920225 )
2018
33
Clinical and epidemiological aspects of microcephaly in the state of PiauA-, northeastern Brazil, 2015-2016. ( 29963988 )
2018
34
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. ( 29899504 )
2018
35
Congenital Zika infection: neurology can occur without microcephaly. ( 29858269 )
2018
36
Reply to: Zika Virus Infection, Pregnancy and Microcephaly. ( 29341037 )
2018
37
Same but different: pleiotropy in centrosome-related microcephaly. ( 29382806 )
2018
38
STIL balancing primary microcephaly and cancer. ( 29352115 )
2018
39
Fetal microcephaly. ( 29866660 )
2018
40
Does Zika Virus Really Causes Microcephaly in Children Whose Mothers Became Infected with the Virus during Their Pregnancy? ( 29900151 )
2018
41
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. ( 29691655 )
2018
42
Glutaric Aciduria Type 1 with Microcephaly: Masquerading as Spastic Cerebral Palsy. ( 30271473 )
2018
43
Perinatal Chikungunya Virus-associated Encephalitis Leading to Postnatal-Onset Microcephaly and Optic Atrophy. ( 28737626 )
2018
44
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report. ( 29801510 )
2018
45
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. ( 30533527 )
2018
46
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study. ( 29989513 )
2018
47
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. ( 30245510 )
2018
48
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. ( 30031689 )
2018
49
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly. ( 30181612 )
2018
50
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability. ( 30289604 )
2018

Variations for Microcephaly

ClinVar genetic disease variations for Microcephaly:

6 (show top 50) (show all 179)
# 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 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
4 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh38 Chromosome X, 154031409: 154031409
5 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh38 Chromosome 3, 48592915: 48592915
6 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh37 Chromosome 3, 48612651: 48612651
7 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh38 Chromosome 3, 48575218: 48575218
8 EPM2A NM_005670.3(EPM2A): c.376A> G (p.Ile126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150452237 GRCh37 Chromosome 6, 146007358: 146007358
9 EPM2A NM_005670.3(EPM2A): c.376A> G (p.Ile126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150452237 GRCh38 Chromosome 6, 145686222: 145686222
10 PCDHB4 NM_018938.3(PCDHB4): c.915delA (p.Lys305Asnfs) deletion Likely pathogenic rs372292910 GRCh38 Chromosome 5, 141122913: 141122913
11 PCDHB4 NM_018938.3(PCDHB4): c.915delA (p.Lys305Asnfs) deletion Likely pathogenic rs372292910 GRCh37 Chromosome 5, 140502495: 140502495
12 DIAPH1 NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 GRCh38 Chromosome 5, 141573518: 141573518
13 DIAPH1 NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 GRCh37 Chromosome 5, 140953085: 140953085
14 AP4M1 NM_004722.3(AP4M1): c.952C> T (p.Arg318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882249 GRCh38 Chromosome 7, 100105981: 100105981
15 AP4M1 NM_004722.3(AP4M1): c.952C> T (p.Arg318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882249 GRCh37 Chromosome 7, 99703604: 99703604
16 ARL14EP NM_152316.2(ARL14EP): c.653G> A (p.Gly218Glu) single nucleotide variant Likely pathogenic rs730882201 GRCh38 Chromosome 11, 30336665: 30336665
17 ARL14EP NM_152316.2(ARL14EP): c.653G> A (p.Gly218Glu) single nucleotide variant Likely pathogenic rs730882201 GRCh37 Chromosome 11, 30358212: 30358212
18 SPART NM_001142294.1(SPART): c.1450dupA (p.Thr484Asnfs) duplication Likely pathogenic rs730882198 GRCh38 Chromosome 13, 36314260: 36314260
19 SPART NM_001142294.1(SPART): c.1450dupA (p.Thr484Asnfs) duplication Likely pathogenic rs730882198 GRCh37 Chromosome 13, 36888397: 36888397
20 NPC2 NM_006432.3(NPC2): c.88G> A (p.Val30Met) single nucleotide variant Benign rs151220873 GRCh38 Chromosome 14, 74486431: 74486431
21 NPC2 NM_006432.3(NPC2): c.88G> A (p.Val30Met) single nucleotide variant Benign rs151220873 GRCh37 Chromosome 14, 74953134: 74953134
22 MTSS1L NM_138383.2(MTSS1L): c.1790C> T (p.Thr597Met) single nucleotide variant Likely pathogenic rs531163149 GRCh38 Chromosome 16, 70664131: 70664131
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.2344C> T (p.Gln782Ter) single nucleotide variant Pathogenic rs201785518 GRCh38 Chromosome 12, 132729818: 132729818
25 ANKLE2 NM_015114.2(ANKLE2): c.1717C> G (p.Leu573Val) single nucleotide variant Likely pathogenic rs863225465 GRCh37 Chromosome 12, 133311145: 133311145
26 ANKLE2 NM_015114.2(ANKLE2): c.1717C> G (p.Leu573Val) single nucleotide variant Likely pathogenic rs863225465 GRCh38 Chromosome 12, 132734559: 132734559
27 HDAC8 NM_018486.2(HDAC8): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs886041936 GRCh37 Chromosome X, 71715060: 71715060
28 HDAC8 NM_018486.2(HDAC8): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs886041936 GRCh38 Chromosome X, 72495210: 72495210
29 UPF3B NM_080632.2(UPF3B): c.758T> C (p.Ile253Thr) single nucleotide variant Uncertain significance rs754982440 GRCh37 Chromosome X, 118975088: 118975088
30 UPF3B NM_080632.2(UPF3B): c.758T> C (p.Ile253Thr) single nucleotide variant Uncertain significance rs754982440 GRCh38 Chromosome X, 119841125: 119841125
31 MT-ND4 NC_012920.1: m.12013A> G single nucleotide variant Uncertain significance rs1057516067 GRCh37 Chromosome MT, 12013: 12013
32 MT-ND4 NC_012920.1: m.12013A> G single nucleotide variant Uncertain significance rs1057516067 GRCh38 Chromosome MT, 12013: 12013
33 MT-ND4 NC_012920.1: m.12018C> G single nucleotide variant Uncertain significance rs1057516068 GRCh37 Chromosome MT, 12018: 12018
34 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh38 Chromosome 1, 42930672: 42930672
35 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh37 Chromosome 1, 43396343: 43396343
36 ENTPD1 NM_001164178.1(ENTPD1): c.61G> A (p.Val21Met) single nucleotide variant Uncertain significance rs150772804 GRCh38 Chromosome 10, 95823245: 95823245
37 ENTPD1 NM_001164178.1(ENTPD1): c.61G> A (p.Val21Met) single nucleotide variant Uncertain significance rs150772804 GRCh37 Chromosome 10, 97583002: 97583002
38 DYNC1H1 NM_001376.4(DYNC1H1): c.6994C> T (p.Arg2332Cys) single nucleotide variant Likely pathogenic rs1057518961 GRCh37 Chromosome 14, 102478787: 102478787
39 DYNC1H1 NM_001376.4(DYNC1H1): c.6994C> T (p.Arg2332Cys) single nucleotide variant Likely pathogenic rs1057518961 GRCh38 Chromosome 14, 102012450: 102012450
40 DYNC1H1 NM_001376.4(DYNC1H1): c.7640C> T (p.Pro2547Leu) single nucleotide variant Likely benign rs1057518888 GRCh38 Chromosome 14, 102016791: 102016791
41 DYNC1H1 NM_001376.4(DYNC1H1): c.7640C> T (p.Pro2547Leu) single nucleotide variant Likely benign rs1057518888 GRCh37 Chromosome 14, 102483128: 102483128
42 EP300 NM_001429.3(EP300): c.2161dupG (p.Ala721Glyfs) duplication Likely pathogenic rs1057519012 GRCh37 Chromosome 22, 41543870: 41543870
43 EP300 NM_001429.3(EP300): c.2161dupG (p.Ala721Glyfs) duplication Likely pathogenic rs1057519012 GRCh38 Chromosome 22, 41147866: 41147866
44 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh37 Chromosome 3, 47888040: 47888040
45 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh38 Chromosome 3, 47846550: 47846550
46 DHX30 NM_138615.2(DHX30): c.2344C> T (p.Arg782Trp) single nucleotide variant Pathogenic rs753242774 GRCh37 Chromosome 3, 47889727: 47889727
47 DHX30 NM_138615.2(DHX30): c.2344C> T (p.Arg782Trp) single nucleotide variant Pathogenic rs753242774 GRCh38 Chromosome 3, 47848237: 47848237
48 SATB2 NM_001172509.1(SATB2): c.1990C> T (p.Gln664Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 200137146: 200137146
49 SATB2 NM_001172509.1(SATB2): c.1990C> T (p.Gln664Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 199272423: 199272423
50 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic GRCh38 Chromosome 5, 37058939: 37058939

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

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 AP4M1 DHX30 DIAPH1 FLG GEMIN4 MECP2
2 nucleus GO:0005634 9.47 ASPM DHX30 DIAPH1 DYRK1A FLG GEMIN4
3 mitotic spindle pole GO:0097431 9.16 ASPM SMC1A

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

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.56 ANKLE2 ASPM POGZ SMC1A
2 cell cycle GO:0007049 9.55 ANKLE2 ASPM NBN POGZ SMC1A
3 mitotic sister chromatid cohesion GO:0007064 8.96 POGZ SMC1A
4 t-circle formation GO:0090656 8.62 NBN SMARCAL1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 ANKLE2 AP4M1 ATP2B3 COL7A1 DHX30 DIAPH1

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
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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