Microcephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MCR010 MIFTS: 55	Microcephaly Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Microcephaly

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

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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...

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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:

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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

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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

Magnesium Sulfate

Approved, Investigational, Vet_approved

Phase 3

7487-88-9

24083

Atosiban

Approved, Investigational

Phase 2, Phase 3

90779-69-4

Calcium, Dietary

Phase 3

Central Nervous System Depressants

Phase 3

calcium channel blockers

Phase 3

Anti-Arrhythmia Agents

Phase 3

Anesthetics

Phase 3

Tocolytic Agents

Phase 3,Phase 2

Peripheral Nervous System Agents

Phase 3

Anticonvulsants

Phase 3

Analgesics

Phase 3

Vasoconstrictor Agents

Phase 2, Phase 3

Oxytocics

Phase 2, Phase 3

Vasotocin

Phase 2, Phase 3

Hormone Antagonists

Phase 2, Phase 3

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 2, Phase 3

Hormones

Phase 2, Phase 3

Immunoglobulin G

Phase 3

Antibodies

Phase 3,Not Applicable

Immunoglobulins, Intravenous

Phase 3

gamma-Globulins

Phase 3

Rho(D) Immune Globulin

Phase 3

Immunoglobulins

Phase 3,Not Applicable

Fludarabine

Approved

Phase 2,Phase 1

75607-67-9, 21679-14-1

30751

Vidarabine

Approved, Investigational

Phase 2

24356-66-9

32326 21704

Mycophenolic acid

Approved

Phase 2

24280-93-1

446541

alemtuzumab

Approved, Investigational

Phase 2,Phase 1

216503-57-0

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Ambrisentan

Approved, Investigational

Phase 2

177036-94-1

6918493

Antimetabolites

Phase 2,Phase 1,Not Applicable

Antitubercular Agents

Phase 2

Alkylating Agents

Phase 2

Calcineurin Inhibitors

Phase 2

Antiviral Agents

Phase 2

Cyclosporins

Phase 2

Antimetabolites, Antineoplastic

Phase 2,Phase 1

Immunosuppressive Agents

Phase 2,Phase 1

Antifungal Agents

Phase 2

Dermatologic Agents

Phase 2

Antirheumatic Agents

Phase 2

Immunologic Factors

Phase 2,Phase 1

Anti-Infective Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Anti-Bacterial Agents

Phase 2

Antihypertensive Agents

Phase 2

Vaccines

Phase 1,Not Applicable

Hydroxocobalamin

Approved

Not Applicable

13422-51-0

11953898 44475014

Methylcobalamin

Approved, Experimental, Investigational

Not Applicable

13422-55-4

Iron

Approved

Not Applicable

7439-89-6

23925

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

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Genetic Tests for Microcephaly

Genetic tests related to Microcephaly:

#	Genetic test	Affiliating Genes
1	Microcephaly ²⁹

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Anatomical Context for Microcephaly

MalaCards organs/tissues related to Microcephaly:

⁴¹

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

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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 )	Stouffs K....Jansen A.C.	2018
3	Zika Virus Infection, Pregnancy and Microcephaly. ( 29341036 )	Sriwijitalai W....Wiwanitkit V.	2018
4	In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus. ( 29311619 )	Azevedo R.S.S....Vasconcelos P.F.C.	2018
5	Analysis of Denver Neurodevelopmental Screening Test Results of Myelomeningocele, Hydrocephalus, and Microcephaly Patients. ( 29899768 )	Alatas I....Canaz H.	2018
6	Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. ( 29370840 )	Wang Y....Chen J.M.	2018
7	Microcephaly epidemic related to the Zika virus and living conditions in Recife, Northeast Brazil. ( 29329574 )	Souza W.V....Martelli C.M.T.	2018
8	Alterations in the primary teeth of children with microcephaly in Northeast Brazil: a comparative study. ( 29968396 )	Siqueira R.M.P....Cabral G.M.P.	2018
9	Biallelic variants in KIF14 cause intellectual disability with microcephaly. ( 29343805 )	Makrythanasis P....Antonarakis S.E.	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 )	Low K.J....Scurr I.	2018
11	A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. ( 29617172 )	Hinds A.M....Reddy M.A.	2018
12	Pre-Zika Microcephaly in Brazil: Closer to the Elusive Baseline and New Questions Raised. ( 29305392 )	Dufort E....White J.	2018
13	GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. ( 29882329 )	Hengel H....SchAPls L.	2018
14	Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders. ( 29504900 )	Marakhonov A.V....Zinchenko R.A.	2018
15	A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. ( 29356416 )	Chartier S....Attie-Bitach T.	2018
16	Chornobyl, radiation, neural tube defects, and microcephaly. ( 29908351 )	Wertelecki W....Ostapchuk L.	2018
17	Cerebrospinal fluid aspects of neonates with or without microcephaly born to mothers with gestational Zika virus clinical symptoms. ( 29432825 )	Ramos C.L....Nascimento-Carvalho C.M.	2018
18	Diagnostic approach to fetal microcephaly. ( 29970280 )	Leibovitz Z....Lerman-Sagie T.	2018
19	Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. ( 29967526 )	Wambach J.A....Cole F.S.	2018
20	A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. ( 29907875 )	Hori I....Saitoh S.	2018
21	Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. ( 29452367 )	Takeuchi H....Haltiwanger R.S.	2018
22	Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 29243349 )	LActard P....Passemard S.	2018
23	Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn. ( 29967080 )	Belal T....Malcolmson J.	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 )	Stephen J...Malicdan MCV	2018
42	Glutaric Aciduria Type 1 with Microcephaly: Masquerading as Spastic Cerebral Palsy. ( 30271473 )	Sharawat IK...Dawman L	2018
43	Perinatal Chikungunya Virus-associated Encephalitis Leading to Postnatal-Onset Microcephaly and Optic Atrophy. ( 28737626 )	Ramos R...Medeiros F	2018
44	Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report. ( 29801510 )	Cococcioni L...Zuccotti GV	2018
45	Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. ( 30533527 )	Vegas N...Bahi-Buisson N	2018
46	A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study. ( 29989513 )	Pironti E...Di Rosa G	2018
47	A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. ( 30245510 )	Mucha BE...Campeau PM	2018
48	5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. ( 30031689 )	Rodan LH...Undiagnosed Diseases Network (UDN)	2018
49	Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly. ( 30181612 )	Karjosukarso DW...Collin RWJ	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 )	Blaesius K...Kaindl A	2018

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Genes for Microcephaly

Genes related to Microcephaly (25 elite genes):

(show top 50) (show all 170)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ASPM	Abnormal Spindle Microtubule Assembly	Protein Coding	497.46	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Transcripts Variants (show sections)	18331833 15972725 16687438 (more) 18636190 19332161 19931588 16151010 14574646 14641475 19808985
2	NBN	Nibrin	Protein Coding	465.94	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	18593981 19345213 15033202 (more) 15451479 16415040 19151620 17395558 11899541
3	PQBP1	Polyglutamine Binding Protein 1	Protein Coding	449.59	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	16190883 15024694 16740914
4	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	433.15	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	15939091 17936729 20142466 (more) 19090026 10508514 11960578 15875198 17276711
5	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	430.5	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
6	DIAPH1	Diaphanous Related Formin 1	Protein Coding	429.93	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
7	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	429.1	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Variants (show sections)	15152356 15622525 18614966 (more) 19591936 10323476 10980529 16497725 18556184 16149086 12325075 17489814 20382060
8	VPS13B	Vacuolar Protein Sorting 13 Homolog B	Protein Coding	424.58	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Variants (show sections)	18655112 15211651
9	TSEN54	TRNA Splicing Endonuclease Subunit 54	Protein Coding	421.71	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
10	ANKLE2	Ankyrin Repeat And LEM Domain Containing 2	Protein Coding	420.65	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
11	POGZ	Pogo Transposable Element Derived With ZNF Domain	Protein Coding	419.82	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
12	GEMIN4	Gem Nuclear Organelle Associated Protein 4	Protein Coding	415.21	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)
13	AP4M1	Adaptor Related Protein Complex 4 Subunit Mu 1	Protein Coding	411.78	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
14	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	410.77	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
15	SMARCAL1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1	Protein Coding	406.94	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
16	DHX30	DExH-Box Helicase 30	Protein Coding	406.8	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
17	COL7A1	Collagen Type VII Alpha 1 Chain	Protein Coding	406.59	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
18	SBDS	SBDS, Ribosome Maturation Factor	Protein Coding	406.59	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
19	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	406.25	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
20	FLG	Filaggrin	Protein Coding	406.25	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
21	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	406.25	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
22	HDAC8	Histone Deacetylase 8	Protein Coding	406.25	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
23	MFN2	Mitofusin 2	Protein Coding	406.25	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
24	NIPBL	NIPBL, Cohesin Loading Factor	Protein Coding	405.17	Pathogenic ⁶ DISEASES inferred ¹⁵
25	STXBP1	Syntaxin Binding Protein 1	Protein Coding	404.12	Pathogenic ⁶ DISEASES inferred ¹⁵
26	MCPH1	Microcephalin 1	Protein Coding	75.93	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	19267414 16687438 15018946 (more) 15917198 17717170 17895362 18636190 19931588 16217032 17102619 16211557
27	CENPJ	Centromere Protein J	Protein Coding	71.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	16829198 16814722
28	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	64.82	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
29	CEP152	Centrosomal Protein 152	Protein Coding	63.25	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
30	KNL1	Kinetochore Scaffold 1	Protein Coding	61.48	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
31	SLC25A19	Solute Carrier Family 25 Member 19	Protein Coding	59.14	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
32	WDR62	WD Repeat Domain 62	Protein Coding	55.4	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)
33	IER3IP1	Immediate Early Response 3 Interacting Protein 1	Protein Coding	52.37	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
34	EFTUD2	Elongation Factor Tu GTP Binding Domain Containing 2	Protein Coding	51.36	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
35	PNKP	Polynucleotide Kinase 3'-Phosphatase	Protein Coding	50.42	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
36	CEP135	Centrosomal Protein 135	Protein Coding	49.93	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
37	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	49.72	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
38	MFSD2A	Major Facilitator Superfamily Domain Containing 2A	Protein Coding	49.63	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
39	XRCC4	X-Ray Repair Cross Complementing 4	Protein Coding	49.57	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
40	TRMT10A	TRNA Methyltransferase 10A	Protein Coding	49.55	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
41	SASS6	SAS-6 Centriolar Assembly Protein	Protein Coding	48.71	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
42	SLC1A4	Solute Carrier Family 1 Member 4	Protein Coding	48.69	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
43	PPP1R15B	Protein Phosphatase 1 Regulatory Subunit 15B	Protein Coding	37.55	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
44	PLEKHG2	Pleckstrin Homology And RhoGEF Domain Containing G2	Protein Coding	36.9	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
45	CRIPT	CXXC Repeat Containing Interactor Of PDZ3 Domain	Protein Coding	36.88	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
46	TUBGCP4	Tubulin Gamma Complex Associated Protein 4	Protein Coding	36.73	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
47	CDK6	Cyclin Dependent Kinase 6	Protein Coding	36.12	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
48	STIL	STIL, Centriolar Assembly Protein	Protein Coding	34	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
49	QARS	Glutaminyl-TRNA Synthetase	Protein Coding	32.69	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
50	PHGDH	Phosphoglycerate Dehydrogenase	Protein Coding	32.3	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Summaries (show sections)	20196394 16763900 15610810 (more) 11055895 11571699 18228065 11751922 19235232

Sources

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

Sources

Expression for Microcephaly

Search GEO for disease gene expression data for Microcephaly.

Sources

Pathways for Microcephaly

Sources

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

Sources for Microcephaly

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia