MCID: MCR010
MIFTS: 56

Microcephaly

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

Aliases & Classifications for Microcephaly

MalaCards integrated aliases for Microcephaly:

Name: Microcephaly 75 53 54 29 55 6 3 40 72 33
Microcephaly Syndrome 37

Classifications:



External Ids:

KEGG 37 H02132
ICD10 33 Q02
UMLS 72 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 microcephaly syndrome, 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 Verapamil and Indomethacin have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and heart, and related phenotypes are cellular and embryo

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 Microcephaly is a condition where a baby’s head is much smaller than expected. During pregnancy, a baby’s head grows because the baby’s brain grows. Microcephaly can occur because a baby’s brain has not developed properly during pregnancy or has stopped growing after birth, which results in a smaller head size. Microcephaly can be an isolated condition, meaning that it can occur with no other major birth defects, or it can occur in combination with other major birth defects.

KEGG : 37
Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean (2 SD) for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly syndrome. To date, a large number of microcephaly syndromes has been reported.

Wikipedia : 75 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 Microcephaly 24, Primary, Autosomal Recessive
Microcephaly 25, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

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

(show top 50) (show all 1341)
# Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 34.9 TSEN54 POGZ
2 white-sutton syndrome 33.4 POGZ MECP2
3 renpenning syndrome 1 33.2 PQBP1 MECP2
4 chromosome 16p13.3 deletion syndrome, proximal 32.3 VPS13B MECP2
5 visual epilepsy 31.6 SLC2A1 POGZ MECP2 DYRK1A DHX30
6 alacrima, achalasia, and mental retardation syndrome 31.3 VPS13B SLC2A1 MECP2 DYRK1A DHX30 ATRX
7 syndromic intellectual disability 31.2 PQBP1 POGZ MECP2 DYRK1A ATRX
8 hypertonia 31.0 TSEN54 AP4M1
9 strabismus 30.8 POGZ DHX30 AP4M1
10 microcephaly, amish type 12.6
11 primary autosomal recessive microcephaly 12.6
12 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.6
13 microcephaly 1, primary, autosomal recessive 12.5
14 microcephaly, autosomal dominant 12.5
15 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 12.5
16 microcephaly-capillary malformation syndrome 12.5
17 microcephaly, seizures, and developmental delay 12.5
18 microcephaly 4, primary, autosomal recessive 12.5
19 microcephaly 5, primary, autosomal recessive 12.4
20 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.4
21 microcephaly 9, primary, autosomal recessive 12.4
22 primary microcephaly 12.4
23 achalasia-microcephaly syndrome 12.4
24 microcephaly 10, primary, autosomal recessive 12.4
25 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 12.4
26 microcephaly 6, primary, autosomal recessive 12.4
27 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.4
28 microcephaly 3, primary, autosomal recessive 12.4
29 microcephaly 7, primary, autosomal recessive 12.4
30 microcephaly, epilepsy, and diabetes syndrome 12.4
31 microcephaly 8, primary, autosomal recessive 12.4
32 microcephaly 12, primary, autosomal recessive 12.4
33 microcephaly, short stature, and impaired glucose metabolism 1 12.4
34 microcephaly 11, primary, autosomal recessive 12.4
35 microcephaly 13, primary, autosomal recessive 12.4
36 microcephaly and chorioretinopathy, autosomal recessive, 1 12.4
37 microcephaly 17, primary, autosomal recessive 12.4
38 seizures, cortical blindness, and microcephaly syndrome 12.4
39 microcephaly 18, primary, autosomal dominant 12.4
40 microcephaly and chorioretinopathy, autosomal recessive, 2 12.4
41 microcephaly 15, primary, autosomal recessive 12.4
42 microcephaly 16, primary, autosomal recessive 12.4
43 microcephaly-micromelia syndrome 12.4
44 microcephaly 14, primary, autosomal recessive 12.4
45 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 12.4
46 microcephaly, postnatal progressive, with seizures and brain atrophy 12.4
47 microcephaly, short stature, and limb abnormalities 12.4
48 microcephaly 19, primary, autosomal recessive 12.4
49 autosomal recessive chorioretinopathy-microcephaly syndrome 12.4
50 short stature with microcephaly and distinctive facies 12.4

Graphical network of the top 20 diseases related to Microcephaly:



Diseases related to Microcephaly

Symptoms & Phenotypes for Microcephaly

MGI Mouse Phenotypes related to Microcephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 ASPM ATRX CC2D2A DIAPH1 DYRK1A MECP2
2 embryo MP:0005380 9.76 ATRX CC2D2A DHX30 DYRK1A MECP2 NBN
3 growth/size/body region MP:0005378 9.73 ASPM ATRX CC2D2A COL7A1 DHX30 DIAPH1
4 mortality/aging MP:0010768 9.4 ATRX CC2D2A COL7A1 DHX30 DIAPH1 DYRK1A

Drugs & Therapeutics for Microcephaly

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 3 52-53-9 2520
2
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
3
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4 Anti-Arrhythmia Agents Phase 3
5 Vasodilator Agents Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8 Analgesics Phase 3
9 Anti-Inflammatory Agents Phase 3
10 Pharmaceutical Solutions Phase 3
11 Tocolytic Agents Phase 3
12 Anti-Inflammatory Agents, Non-Steroidal Phase 3
13 Analgesics, Non-Narcotic Phase 3
14 Peripheral Nervous System Agents Phase 3
15 Cyclooxygenase Inhibitors Phase 3
16
Mycophenolic acid Approved Phase 2 24280-93-1 446541
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
19
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
20
Mineral oil Approved, Vet_approved Phase 2 8042-47-5
21
Calcium polycarbophil Approved Phase 2 126040-58-2
22
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
23 Plerixafor octahydrochloride Phase 1, Phase 2
24 Anti-HIV Agents Phase 1, Phase 2
25 Anti-Retroviral Agents Phase 1, Phase 2
26 Hormones Phase 2
27 Antirheumatic Agents Phase 2
28 Alkylating Agents Phase 2
29 Antifungal Agents Phase 2
30 Anti-Bacterial Agents Phase 2
31 Anti-Infective Agents Phase 2
32 Antibiotics, Antitubercular Phase 2
33 Antitubercular Agents Phase 2
34 Cyclosporins Phase 2
35 Dermatologic Agents Phase 2
36 Antiviral Agents Phase 2
37 Calcineurin Inhibitors Phase 2
38 Psyllium Phase 2
39 Hormone Antagonists Phase 2
40 Progestins Phase 2
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
42 Carbopol 940 Phase 2
43 Antihypertensive Agents Phase 2
44
alemtuzumab Approved, Investigational Phase 1 216503-57-0
45
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
46 Vaccines Phase 1
47 Immunosuppressive Agents Phase 1
48 Antineoplastic Agents, Immunological Phase 1
49 Antimetabolites, Antineoplastic Phase 1
50 Antimetabolites Phase 1

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 A Double-blind, Placebo-controlled, Randomized Study to Evaluate the Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Subjects With Phenylketonuria Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
2 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 AMD3100 in Combination With G-CSF to Mobilize Peripheral Blood Stem Cells in Patients With Fanconi Anemia(FA): A Phase I/II Study Completed NCT00479115 Phase 1, Phase 2 AMD3100
5 Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
6 Randomized Trial of Maternal Progesterone Therapy to Improve Neurodevelopmental Outcomes in Infants With Congenital Heart Disease Recruiting NCT02133573 Phase 2 Progesterone;Vaginal lubricant
7 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
8 Safety, Pharmacokinetics (PK) and Hemodynamic Effects of Ambrisentan in Single Ventricle Pediatric Patients Active, not recruiting NCT02080637 Phase 2 Ambrisentan
9 Phase I, Placebo-Controlled, Double-Blind Study To Evaluate The Safety, Tolerability, AND Immunogenicity Of GLS-5700, Administered ID Followed By Electroporation In Dengue Virus-Seropositive Adults Completed NCT02887482 Phase 1
10 Phase I, Open-label, Dose-Ranging Study to Evaluate the Safety, Tolerability, and Immunogenicity of GLS-5700 Administered ID Followed by EP in Dengue Virus-Naïve Adults Completed NCT02809443 Phase 1
11 VRC 319: A Phase I/Ib, Randomized Clinical Trial to Evaluate the Safety and Immunogenicity of A Zika Virus DNA Vaccine, VRC-ZKADNA085-00-VP, in Healthy Adults Completed NCT02840487 Phase 1
12 A Phase I Study Evaluating The Use Of Rft5-Dga To Deplete Alloreactive Cells For Patients With Fanconi Anemia After Haploidentical Stem Cell Transplantation Terminated NCT00586274 Phase 1 Fludarabine
13 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
14 Études Observationnelles Des conséquences de l'Infection à Virus Zika au Cours de la Grossesse Pendant l'épidémie Des départements français d'Amérique de l'année 2016 Unknown status NCT02916732
15 Études Observationnelles Des conséquences néonatales et pédiatriques de l'Infection à Virus Zika au Cours de la Grossesse Pendant l'épidémie Des départements français d'Amérique de l'année 2016 Unknown status NCT02810210
16 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871
17 Rash Accompanied by Three or More Dengue-like Symptoms During Pregnancy and Microcephaly: Case-control Study Completed NCT02741882
18 Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA) Completed NCT01565005
19 Fetal and Maternal Head Circumference During Pregnancy Completed NCT02510170
20 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Completed NCT01907555
21 Efficacy of Aquatic Physiotherapy in Stress Level and Muscle Tone of Children Between 3 and 24 Months With Microcephaly by Zika Virus Congenital Syndrome Completed NCT03330600
22 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
23 Sensorimotor Outcomes of Children Exposed to Foetal Zika Virus Infection During the First or Second Trimester of Gestation. Completed NCT03679728
24 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
25 Effects of Maternal Phenylketonuria (PKU) on Pregnancy Outcome Completed NCT00065299
26 Evaluation of Patients With Unresolved Chromosome Aberrations Completed NCT00001639
27 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Completed NCT02322177
28 Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
29 Study of Zika Virus and Related Arbovirus Infections in Deferred Blood Donors Completed NCT02794181
30 Screening for Congenital Cytomegalovirus Infection in Newborns With Failed Hearing Screen or Who Are Small for Gestational Age Completed NCT02683096
31 Cytomegalovirus Testing and Intervention Protocol for Newborn Nursery and Newborn Intensive Care Unit Completed NCT02680743
32 Guangzhou Surveillance and Clinical Study in Microcephaly Recruiting NCT03651687
33 Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia Recruiting NCT03922594
34 Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation Recruiting NCT03587155
35 Risk Evaluation of Fetal Nervous System and Neurodevelopment Disorders in Infants of Women Exposed to Zika Virus Infection During Pregnancy Recruiting NCT02943304
36 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210
37 Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment: Cohort Study in Fiocruz/IFF Recruiting NCT03255369
38 The VTCRI Neuromotor Research Clinic Recruiting NCT03325946
39 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
40 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Recruiting NCT03548779
41 Pregnant Women (PW) Cohort for Evaluation of Risks of Congenital Malformations and Other Adverse Pregnancy Outcomes After Zika Virus Infection (Part of ZIKAlliance) Recruiting NCT03188731
42 Children (CH) Cohort for the Evaluation of Developmental and Neurological Abnormalities in Infants Born to Mothers Residing in Areas With Zika Virus Transmission During Pregnancy Recruiting NCT03393286
43 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Recruiting NCT03802708
44 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
45 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
46 Screening For Critical Congenital Anomalies In NICU And Their Out Come in Assiut Universty Not yet recruiting NCT03882385
47 Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy Terminated NCT01541397 Sapropterin
48 Postnatal HCMV Infection in Very Preterm Infants. Implications on Acute and Chronic Morbidity, Growth and Neurodevelopmental Outcomes Part of the Study on "Nutrition, Growth and Development Among Very Preterm Infants". Withdrawn NCT01151462

Search NIH Clinical Center for Microcephaly

Genetic Tests for Microcephaly

Genetic tests related to Microcephaly:

# Genetic test Affiliating Genes
1 Microcephaly 29

Anatomical Context for Microcephaly

MalaCards organs/tissues related to Microcephaly:

41
Brain, Cortex, Heart, Bone, Fetal Brain, Testes, Skin

Publications for Microcephaly

Articles related to Microcephaly:

(show top 50) (show all 7545)
# Title Authors PMID Year
1
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. 9 38
19808985 2010
2
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. 9 38
20382060 2010
3
Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. 9 38
20142466 2010
4
Many roads lead to primary autosomal recessive microcephaly. 9 38
19931588 2010
5
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. 9 38
20133615 2010
6
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. 9 38
20196394 2009
7
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. 9 38
19591936 2009
8
A novel mutation in a family with DNA ligase IV deficiency syndrome. 9 38
19418549 2009
9
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. 9 38
19332161 2009
10
Conditional inactivation of the NBS1 gene in the mouse central nervous system leads to neurodegeneration and disorganization of the visual system. 9 38
19345213 2009
11
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 9 38
19235232 2009
12
Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. 9 38
19151620 2009
13
The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation. 9 38
19267414 2009
14
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation. 9 38
19090026 2009
15
Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy. 9 38
18932004 2008
16
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. 9 38
18614966 2008
17
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 9 38
18655112 2008
18
[GLUT-1 deficiency syndrome or De Vivo disease: a case report]. 9 38
18556184 2008
19
Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency. 9 38
18228065 2008
20
Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. 9 38
18636190 2008
21
Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. 9 38
18593981 2008
22
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 9 38
18513969 2008
23
Ionizing radiation downregulates ASPM, a gene responsible for microcephaly in humans. 9 38
18331833 2008
24
Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. 9 38
18203155 2008
25
Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. 9 38
17936729 2007
26
The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo. 9 38
17895362 2007
27
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 9 38
17406642 2007
28
Comment on papers by Evans et al. and Mekel-Bobrov et al. on Evidence for Positive Selection of MCPH1 and ASPM. 9 38
17717170 2007
29
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. 9 38
17276711 2007
30
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. 9 38
17489814 2007
31
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype. 9 38
17395558 2007
32
Intragenic deletion of Tgif causes defectsin brain development. 9 38
17082251 2006
33
Microcephalin: a causal link between impaired damage response signalling and microcephaly. 9 38
17102619 2006
34
What primary microcephaly can tell us about brain growth. 9 38
16829198 2006
35
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 9 38
16684786 2006
36
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 9 38
16740914 2006
37
Flies without centrioles. 9 38
16814722 2006
38
Normal variants of Microcephalin and ASPM do not account for brain size variability. 9 38
16687438 2006
39
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 9 38
16575835 2006
40
A mouse model for Glut-1 haploinsufficiency. 9 38
16497725 2006
41
Treatment with amino acids in serine deficiency disorders. 9 38
16763900 2006
42
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. 9 38
16415040 2006
43
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. 9 38
15875198 2006
44
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. 9 38
16149086 2006
45
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. 9 38
16358361 2006
46
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. 9 38
16211557 2005
47
BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. 9 38
16217032 2005
48
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 9 38
16088910 2005
49
Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. 9 38
16151010 2005
50
PQBP-1 is expressed predominantly in the central nervous system during development. 9 38
16190883 2005

Variations for Microcephaly

ClinVar genetic disease variations for Microcephaly:

6 (show top 50) (show all 134)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A1 NM_006516.3(SLC2A1): c.470dup (p.Thr158fs) duplication Pathogenic rs1057518821 1:43396343-43396343 1:42930672-42930672
2 SMARCAL1 NM_014140.3(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 2:217280150-217280150 2:216415427-216415427
3 VPS13B NM_017890.4(VPS13B): c.4620del (p.Ser1541fs) deletion Pathogenic rs1057518939 8:100523652-100523652 8:99511424-99511424
4 DHX30 NM_138615.3(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 3:47888040-47888040 3:47846550-47846550
5 DHX30 NM_138615.3(DHX30): c.2344C> T (p.Arg782Trp) single nucleotide variant Pathogenic rs753242774 3:47889727-47889727 3:47848237-47848237
6 DHX30 NM_138615.3(DHX30): c.1685A> G (p.His562Arg) single nucleotide variant Pathogenic rs1060499733 3:47888247-47888247 3:47846757-47846757
7 POGZ NM_015100.4(POGZ): c.2771del (p.Pro924fs) deletion Pathogenic rs1553212868 1:151378740-151378740 1:151406264-151406264
8 FLG NM_002016.1(FLG): c.544A> T (p.Lys182Ter) single nucleotide variant Pathogenic rs1218912272 1:152286818-152286818 1:152314342-152314342
9 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic rs1553827236 4:15518380-15518380 4:15516757-15516757
10 NIPBL NM_015384.5(NIPBL): c.7459del (p.Glu2487fs) deletion Pathogenic rs1554034812 5:37059041-37059041 5:37058939-37058939
11 STXBP1 NM_003165.4(STXBP1): c.733C> G (p.His245Asp) single nucleotide variant Pathogenic rs1554777480 9:130428514-130428514 9:127666235-127666235
12 subset of 25 genes:ELN GRCh37/hg19 7q11.23(chr7: 72772522-74133319) copy number loss Pathogenic 7:72772522-74133319 :0-0
13 subset of 22 genes:FLCN ; RAI1 GRCh37/hg19 17p11.2(chr17: 16936603-18184130) copy number loss Pathogenic 17:16936603-18184130 :0-0
14 CLUH ; METTL16 ; PAFAH1B1 ; RAP1GAP2 GRCh37/hg19 17p13.3(chr17: 2339561-2826073) copy number loss Pathogenic 17:2339561-2826073 :0-0
15 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 1:12052716-12052716 1:11992659-11992659
16 SBDS NM_016038.4(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 7:66459197-66459197 7:66994210-66994210
17 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 2:217342939-217342939 2:216478216-216478216
18 NBN NM_002485.4(NBN): c.657_661del (p.Lys219fs) deletion Pathogenic rs587776650 8:90983442-90983446 8:89971214-89971218
19 PQBP1 NM_005710.2(PQBP1): c.451_452AG[4] (p.Arg153fs) short repeat Pathogenic rs606231193 X:48759676-48759679 X:48902399-48902402
20 ATRX NM_000489.5(ATRX): c.7156C> T (p.Arg2386Ter) single nucleotide variant Pathogenic rs122445099 X:76776310-76776310 X:77520832-77520832
21 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 3:48630348-48630348 3:48592915-48592915
22 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 4:15589553-15589553 4:15587930-15587930
23 VPS13B NM_015243.2(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs386834070 8:100146872-100146872 8:99134644-99134644
24 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic 21:38007970-39747620 :0-0
25 DYRK1A NM_001396.4(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 21:38858865-38858865 21:37486563-37486563
26 DYRK1A NM_001396.4(DYRK1A): c.621_624delinsGAA (p.Glu208fs) indel Pathogenic rs724159950 21:38858873-38858876 21:37486571-37486574
27 DYRK1A NM_001396.4(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 21:38862575-38862575 21:37490273-37490273
28 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282fs) duplication Pathogenic rs724159954 21:38862656-38862656 21:37490354-37490354
29 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316fs) duplication Pathogenic rs724159952 21:38862757-38862757 21:37490455-37490455
30 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413fs) duplication Pathogenic rs724159956 21:38868553-38868553 21:37496251-37496251
31 DYRK1A NM_001396.4(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 21:38877655-38877655 21:37505352-37505352
32 SMC1A NM_006306.3(SMC1A): c.796_798AAG[2] (p.Lys268del) short repeat Pathogenic rs727503773 X:53439900-53439902 X:53412950-53412952
33 covers 24 genes, none of which curated to show dosage sensitivity NC_000006.11 deletion Pathogenic 6:116681080-119775014 :0-0
34 SLC2A1 NM_006516.3(SLC2A1): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic rs80359826 1:43394689-43394689 1:42929018-42929018
35 PTEN NM_000314.7(PTEN): c.203A> G (p.Tyr68Cys) single nucleotide variant Pathogenic rs876660634 10:89685308-89685308 10:87925551-87925551
36 PPP2R1A NM_014225.6(PPP2R1A): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs863225094 19:52716329-52716329 19:52213076-52213076
37 ANKLE2 NM_015114.3(ANKLE2): c.2344C> T (p.Gln782Ter) single nucleotide variant Pathogenic rs201785518 12:133306404-133306404 12:132729818-132729818
38 ATP2B3 NM_001001344.2(ATP2B3): c.3594G> T (p.Lys1198Asn) single nucleotide variant Pathogenic rs782596945 X:152845687-152845687 X:153580229-153580229
39 46;XY;t(9;16)(p24;q22)dn Translocation Pathogenic
40 46;XY;t(11;19)(p11.2;p13.3)dn Translocation Pathogenic
41 46;XX;t(3;12)(q13.2;q14)dn Translocation Pathogenic
42 46;XX;inv(7)(q11.23q36.3)dn inversion Pathogenic
43 46;X;inv(X)(p11.4q24)dn inversion Pathogenic
44 46;XX;inv(2)(p23q31)dn inversion Pathogenic
45 46;XX;inv(2)(p23q31.3) inversion Pathogenic
46 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
47 46;XY;t(3;18)(q13.31;q22.1)dn Translocation Pathogenic
48 HDAC8 NM_018486.3(HDAC8): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs886041936 X:71715060-71715060 X:72495210-72495210
49 subset of 25 genes:ELN GRCh37/hg19 7q11.23(chr7: 72772522-74133319) copy number loss Pathogenic 7:72772522-74133319 :0-0
50 SVBP NM_199342.4(SVBP): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic 1:43282134-43282134 1:42816463-42816463

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 nucleus GO:0005634 9.44 TSEN54 SMARCAL1 SBDS PQBP1 POGZ NBN
2 heterochromatin GO:0000792 8.96 MECP2 ATRX

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

# Name GO ID Score Top Affiliating Genes
1 replication fork processing GO:0031297 9.32 SMARCAL1 ATRX
2 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.26 NBN ATRX
3 t-circle formation GO:0090656 9.16 SMARCAL1 NBN
4 positive regulation of telomere maintenance GO:0032206 8.96 NBN ATRX
5 DNA duplex unwinding GO:0032508 8.8 NBN DHX30 ATRX

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 TSEN54 SMARCAL1 SLC2A1 SBDS PQBP1 POGZ
2 ATP-dependent DNA helicase activity GO:0004003 9.16 NBN DHX30
3 helicase activity GO:0004386 9.13 SMARCAL1 DHX30 ATRX

Sources for Microcephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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