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MCPH1
MCID: MCR247
MIFTS: 42

Microcephaly 1, Primary, Autosomal Recessive (MCPH1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Microcephaly 1, Primary, Autosomal Recessive

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MalaCards integrated aliases for Microcephaly 1, Primary, Autosomal Recessive:

Name: Microcephaly 1, Primary, Autosomal Recessive 57 72 13
Primary Autosomal Recessive Microcephaly 1 12 29 6 15
Mcph1 57 12 72
Premature Chromosome Condensation with Microcephaly and Mental Retardation 57 72
Premature Chromosome Condensation Syndrome 57 72
Pcc Syndrome 57 72
Microcephaly, Type 1, Primary, Autosomal Recessive 39
Microcephaly, Primary Autosomal Recessive, 1 70
Autosomal Recessive Primary Microcephaly 70
True Microcephaly 72
Microcephaly Vera 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
microcephaly 1, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0070285
OMIM® 57 251200
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831
MedGen 41 C1855081
UMLS 70 C1855081 C3711387
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Summaries for Microcephaly 1, Primary, Autosomal Recessive

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OMIM® : 57 Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by Woods et al., 2005). Most cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' (Hofman, 1984). MCPH1 in particular is associated with premature chromosome condensation in cell studies (Darvish et al., 2010). (251200) (Updated 05-Apr-2021)

MalaCards based summary : Microcephaly 1, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 1, is related to microcephaly 9, primary, autosomal recessive and primary microcephaly. An important gene associated with Microcephaly 1, Primary, Autosomal Recessive is MCPH1 (Microcephalin 1). Affiliated tissues include brain, cortex and fetal brain, and related phenotypes are short stature and intellectual disability

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.

UniProtKB/Swiss-Prot : 72 Microcephaly 1, primary, autosomal recessive: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.

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Related Diseases for Microcephaly 1, Primary, Autosomal Recessive

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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 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
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
Primary Autosomal Recessive Microcephaly Primary Microcephaly

Diseases related to Microcephaly 1, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 microcephaly 9, primary, autosomal recessive 31.5 MCPH1 CEP152 CENPJ
2 primary microcephaly 31.5 MCPH1 CEP152 CENPJ ASPM
3 microcephaly 17, primary, autosomal recessive 31.4 MCPH1 CEP152 CENPJ ASPM
4 microcephaly 4, primary, autosomal recessive 31.4 MCPH1 CEP152 CENPJ ASPM
5 microcephaly 5, primary, autosomal recessive 31.4 MCPH1 CEP152 CENPJ ASPM
6 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 31.4 MCPH1 CEP152 CENPJ ASPM
7 seckel syndrome 31.3 MCPH1 CEP152 CENPJ ASPM
8 band heterotopia 31.2 MCPH1 CENPJ ASPM
9 periventricular nodular heterotopia 31.2 MCPH1 CENPJ ASPM
10 microcephaly 10, primary, autosomal recessive 31.1 CEP152 CENPJ
11 microcephaly 11, primary, autosomal recessive 31.1 MCPH1 CEP152 CENPJ
12 microcephaly 8, primary, autosomal recessive 31.1 MCPH1 CEP152 CENPJ
13 microcephaly 12, primary, autosomal recessive 31.0 MCPH1 CEP152 CENPJ
14 primary autosomal recessive microcephaly 31.0 MCPH1-AS1 MCPH1 CEP152 CENPJ ASPM ANGPT2
15 seckel syndrome 2 31.0 MCPH1 CEP152 CENPJ
16 microcephaly 13, primary, autosomal recessive 31.0 MCPH1 CEP152
17 microcephaly 31.0 MCPH1 EXOSC3 CEP152 CENPJ ASPM ADAR
18 microcephaly 3, primary, autosomal recessive 30.9 MCPH1 CEP152 CENPJ ASPM
19 microcephaly 7, primary, autosomal recessive 30.9 MCPH1 CEP152 CENPJ ASPM
20 microcephaly 18, primary, autosomal dominant 30.9 MCPH1 CEP152 CENPJ ASPM
21 microcephaly 6, primary, autosomal recessive 30.8 MCPH1 CEP152 CENPJ ASPM
22 microcephalic osteodysplastic primordial dwarfism, type ii 30.8 MCPH1 CEP152 CENPJ ASPM
23 seckel syndrome 4 30.8 MCPH1 CEP152 CENPJ ASPM
24 congenital nervous system abnormality 30.8 MCPH1 CEP152 CENPJ ASPM
25 isolated growth hormone deficiency, type ia 30.8 MCPH1 CEP152 CENPJ ASPM
26 physical disorder 30.7 MCPH1 CEP152 CENPJ ASPM
27 seckel syndrome 5 30.1 PROP1 NNT MCPH1 EXOSC3 CEP152 CENPJ
28 ataxia-telangiectasia 11.1
29 autism 11.0
30 microcephaly 26, primary, autosomal dominant 10.9
31 microcephaly 27, primary, autosomal dominant 10.9
32 autosomal recessive non-syndromic intellectual disability 10.9
33 miller-dieker lissencephaly syndrome 10.8
34 disease of mental health 10.8
35 autosomal recessive disease 10.2
36 alacrima, achalasia, and mental retardation syndrome 10.1
37 otitis media 10.0
38 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.0
39 ataxia and polyneuropathy, adult-onset 10.0
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
41 telangiectasis 10.0
42 microcephaly 14, primary, autosomal recessive 9.9 CEP152 CENPJ
43 motor neuron disease 9.9
44 dystonia 9.9
45 tremor 9.9
46 pheochromocytoma 9.9
47 paraganglioma 9.9
48 adrenal gland pheochromocytoma 9.9
49 3-methylglutaconic aciduria, type iii 9.8
50 microphthalmia 9.8

Graphical network of the top 20 diseases related to Microcephaly 1, Primary, Autosomal Recessive:



Diseases related to Microcephaly 1, Primary, Autosomal Recessive
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Symptoms & Phenotypes for Microcephaly 1, Primary, Autosomal Recessive

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Human phenotypes related to Microcephaly 1, Primary, Autosomal Recessive:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 intellectual disability 31 HP:0001249
3 microcephaly 31 HP:0000252
4 small cerebral cortex 31 HP:0002472
5 seizure 31 HP:0001250
6 increased rate of premature chromosome condensation 31 HP:0003451

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature (in some patients)

Head And Neck Head:
microcephaly (head circumference 3 to 11 s.d. below mean)

Neurologic Central Nervous System:
seizures (rare)
mental retardation, mild to severe
decreased brain weight
disproportionately small cerebral cortex

Laboratory Abnormalities:
premature chromosome condensation

Clinical features from OMIM®:

251200 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Microcephaly 1, Primary, Autosomal Recessive

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Search Clinical Trials , NIH Clinical Center for Microcephaly 1, Primary, Autosomal Recessive

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Genetic Tests for Microcephaly 1, Primary, Autosomal Recessive

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Genetic tests related to Microcephaly 1, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 1 29 MCPH1
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Anatomical Context for Microcephaly 1, Primary, Autosomal Recessive

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MalaCards organs/tissues related to Microcephaly 1, Primary, Autosomal Recessive:

40
Brain, Cortex, Fetal Brain, Breast, Lung, Heart, Colon
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Publications for Microcephaly 1, Primary, Autosomal Recessive

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Articles related to Microcephaly 1, Primary, Autosomal Recessive:

(show top 50) (show all 216)
# Title Authors PMID Year
1
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 57 6 61
20978018 2010
2
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. 61 6 57
20101680 2010
3
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. 61 6 57
16311745 2006
4
Mutations in microcephalin cause aberrant regulation of chromosome condensation. 61 57 6
15199523 2004
5
Identification of microcephalin, a protein implicated in determining the size of the human brain. 61 57 6
12046007 2002
6
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. 57 6
11857108 2002
7
Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly. 57 6
7693575 1993
8
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. 61 6
16783362 2006
9
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 57 61
15806441 2005
10
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. 57 61
9683597 1998
11
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
12
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. 57
20949544 2010
13
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 57
15793586 2005
14
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. 57
11078481 2000
15
Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose. 57
8585559 1995
16
Premature chromosome condensation is induced by a point mutation in the hamster RCC1 gene. 57
2300055 1990
17
Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. 57
3307411 1987
18
Molecular cloning of a human gene that regulates chromosome condensation and is essential for cell proliferation. 57
3785187 1986
19
Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. 57
2998187 1985
20
A biometric analysis of brain size in micrencephalics. 57
6737015 1984
21
A possible major contribution to mental retardation in the general population by the gene for microcephaly. 57
1132165 1975
22
A problem in diagnosis of primary versus secondary microcephaly. 57
4691556 1973
23
MANIFESTATIONS OF A RECESSIVE GENE FOR MICROCEPHALY IN A POPULATION ISOLATE. 57
14192065 1964
24
Microcephaly. 57
14025412 1962
25
The genetics and sub-classification of microcephaly. 57
13812499 1960
26
Microcephaly in the Netherlands: a clinical and genetical study. 57
13637554 1959
27
Microcephaly in one of monozygous twins. 57
13628231 1959
28
Genetics of microcephaly in man. 57
13626499 1959
29
[Concerning the simple recessive character of true, spurious & combined microcephaly & concerning the localized occurrence of true microcephaly in Swiss isolates]. 57
13594234 1958
30
Genetic study of microcephaly based on Japanese material. 57
14361394 1955
31
Anomalies occurring in children exposed in utero to the atomic bomb in Hiroshima. 57
13003418 1952
32
Identification of Breast Cancer Subtype-Specific Biomarkers by Integrating Copy Number Alterations and Gene Expression Profiles. 61
33809336 2021
33
The N-terminal BRCT domain determines MCPH1 function in brain development and fertility. 61
33542216 2021
34
Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly. 61
32614431 2021
35
Genome-Wide Identification of Cis-acting Expression QTLs in Large Yellow Croaker. 61
33507423 2021
36
The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction. 61
33094427 2021
37
Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment. 61
32996353 2021
38
Generation of a MCPH1 knockout human embryonic stem cell line by CRISPR/Cas9 technology. 61
33370873 2020
39
Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly. 61
33203878 2020
40
Mitotic entry upon Topo II catalytic inhibition is controlled by Chk1 and Plk1. 61
32144855 2020
41
Microcephaly family protein MCPH1 stabilizes RAD51 filaments. 61
32735676 2020
42
Investigation of promoter methylation of MCPH1 gene in circulating cell-free DNA of brain tumor patients. 61
32556427 2020
43
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis. 61
32714618 2020
44
Analysis of the "centrosome-ome" identifies MCPH1 deletion as a cause of centrosome amplification in human cancer. 61
32681070 2020
45
MCPH1 Lack of Function Enhances Mitotic Cell Sensitivity Caused by Catalytic Inhibitors of Topo II. 61
32276518 2020
46
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly. 61
32294449 2020
47
Identification of Novel Alzheimer's Disease Loci Using Sex-Specific Family-Based Association Analysis of Whole-Genome Sequence Data. 61
32193444 2020
48
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. 61
31112269 2020
49
[Update on autosomal recessive primary microcephaly (MCPH)-associated proteins]. 61
31624053 2019
50
Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly. 61
30809794 2019
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Variations for Microcephaly 1, Primary, Autosomal Recessive

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ClinVar genetic disease variations for Microcephaly 1, Primary, Autosomal Recessive:

6 (show top 50) (show all 172)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CENPJ NM_018451.5(CENPJ):c.18del (p.Ser7fs) Deletion Pathogenic 1817 rs199422202 GRCh37: 13:25487146-25487146
GRCh38: 13:24913008-24913008
2 MCPH1 NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) SNV Pathogenic 3454 rs121434305 GRCh37: 8:6266851-6266851
GRCh38: 8:6409330-6409330
3 MCPH1 NM_024596.5(MCPH1):c.427dup (p.Thr143fs) Duplication Pathogenic 3455 rs199422125 GRCh37: 8:6293668-6293669
GRCh38: 8:6436147-6436148
4 MCPH1 NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg) SNV Pathogenic 21704 rs199422124 GRCh37: 8:6266857-6266857
GRCh38: 8:6409336-6409336
5 MCPH1 NM_024596.5(MCPH1):c.566dup (p.Asn189fs) Duplication Pathogenic 30639 rs753597039 GRCh37: 8:6296599-6296600
GRCh38: 8:6439078-6439079
6 MCPH1 NM_024596.5(MCPH1):c.147C>G (p.His49Gln) SNV Pathogenic 30640 rs1488084787 GRCh37: 8:6272318-6272318
GRCh38: 8:6414797-6414797
7 MCPH1 NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) SNV Pathogenic 30641 rs387906961 GRCh37: 8:6272386-6272386
GRCh38: 8:6414865-6414865
8 MCPH1 NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) SNV Pathogenic 30642 rs755862917 GRCh37: 8:6289088-6289088
GRCh38: 8:6431567-6431567
9 MCPH1-AS1 , MCPH1 NM_024596.5(MCPH1):c.2453-1G>C SNV Pathogenic 158863 rs587783739 GRCh37: 8:6500514-6500514
GRCh38: 8:6642993-6642993
10 MCPH1 NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) SNV Pathogenic 586140 rs748011724 GRCh37: 8:6302868-6302868
GRCh38: 8:6445347-6445347
11 MCPH1 NM_024596.5(MCPH1):c.22+2_22+4del Deletion Pathogenic 435838 rs1554471681 GRCh37: 8:6264212-6264214
GRCh38: 8:6406691-6406693
12 MCPH1 NC_000008.10:g.(?_6264113)_(6296618_6299587)del Deletion Pathogenic 3456 GRCh37: 8:6264113-6299587
GRCh38: 8:6406592-6442066
13 overlap with 2 genes NC_000008.10:g.(6060654_6061169)_(6310738_6317266)del Deletion Pathogenic 208150 GRCh37: 8:6060654-6317266
GRCh38: 8:6203133-6459745
14 overlap with 2 genes GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521) copy number loss Pathogenic 916000 GRCh37: 8:6160874-6500521
GRCh38:
15 MCPH1 GRCh37/hg19 8p23.1(chr8:6261036-6312712) copy number loss Pathogenic 916001 GRCh37: 8:6261036-6312712
GRCh38:
16 MCPH1 NM_024596.5(MCPH1):c.586del (p.Gln196fs) Deletion Pathogenic 987894 GRCh37: 8:6299591-6299591
GRCh38: 8:6442070-6442070
17 ASPM NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) SNV Pathogenic 21569 rs199422151 GRCh37: 1:197094320-197094320
GRCh38: 1:197125190-197125190
18 ASPM NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) SNV Pathogenic 21570 rs199422152 GRCh37: 1:197094291-197094291
GRCh38: 1:197125161-197125161
19 ASPM NM_018136.5(ASPM):c.5863dup (p.Gln1955fs) Duplication Pathogenic 694714 rs1571600860 GRCh37: 1:197072517-197072518
GRCh38: 1:197103387-197103388
20 ASPM NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) Deletion Pathogenic 694722 rs1558328287 GRCh37: 1:197070180-197070181
GRCh38: 1:197101050-197101051
21 MCPH1 NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) Deletion Pathogenic 158830 rs587783735 GRCh37: 8:6312707-6312708
GRCh38: 8:6455186-6455187
22 MCPH1 NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) SNV Pathogenic 267732 rs572671721 GRCh37: 8:6302804-6302804
GRCh38: 8:6445283-6445283
23 ASPM NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) Deletion Pathogenic 21606 rs199422173 GRCh37: 1:197070598-197070599
GRCh38: 1:197101468-197101469
24 MCPH1 NM_024596.5(MCPH1):c.1935+1G>T SNV Pathogenic 1032180 GRCh37: 8:6312774-6312774
GRCh38: 8:6455253-6455253
25 MCPH1 NM_024596.5(MCPH1):c.2002del (p.Asp668fs) Deletion Likely pathogenic 931382 GRCh37: 8:6338262-6338262
GRCh38: 8:6480741-6480741
26 MCPH1 NM_024596.5(MCPH1):c.1974-2A>G SNV Likely pathogenic 420681 rs541042265 GRCh37: 8:6338233-6338233
GRCh38: 8:6480712-6480712
27 MCPH1 NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) Insertion Likely pathogenic 435835 rs1554496609 GRCh37: 8:6312761-6312762
GRCh38: 8:6455240-6455241
28 ANGPT2 , MCPH1 NM_024596.5(MCPH1):c.2214+2T>C SNV Likely pathogenic 873472 GRCh37: 8:6357452-6357452
GRCh38: 8:6499931-6499931
29 MCPH1 NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) SNV Likely pathogenic 158819 rs587783733 GRCh37: 8:6272299-6272299
GRCh38: 8:6414778-6414778
30 MCPH1 NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) SNV Likely pathogenic 158867 rs587783741 GRCh37: 8:6289064-6289064
GRCh38: 8:6431543-6431543
31 MCPH1 NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) SNV Conflicting interpretations of pathogenicity 499746 rs77959215 GRCh37: 8:6302592-6302592
GRCh38: 8:6445071-6445071
32 ANGPT2 , MCPH1 NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) SNV Conflicting interpretations of pathogenicity 285523 rs201599657 GRCh37: 8:6357381-6357381
GRCh38: 8:6499860-6499860
33 MCPH1 NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) SNV Conflicting interpretations of pathogenicity 96129 rs146586991 GRCh37: 8:6302738-6302738
GRCh38: 8:6445217-6445217
34 MCPH1-AS1 , MCPH1 NM_024596.5(MCPH1):c.2453-14C>T SNV Conflicting interpretations of pathogenicity 158862 rs17077744 GRCh37: 8:6500501-6500501
GRCh38: 8:6642980-6642980
35 MCPH1 NM_024596.5(MCPH1):c.477A>T (p.Ser159=) SNV Uncertain significance 158870 rs41313948 GRCh37: 8:6296514-6296514
GRCh38: 8:6438993-6438993
36 MCPH1 NM_024596.5(MCPH1):c.867G>A (p.Gln289=) SNV Uncertain significance 158877 rs201231900 GRCh37: 8:6302110-6302110
GRCh38: 8:6444589-6444589
37 MCPH1 NM_024596.5(MCPH1):c.115-14C>T SNV Uncertain significance 363518 rs200346652 GRCh37: 8:6272272-6272272
GRCh38: 8:6414751-6414751
38 ANGPT2 , MCPH1 NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) SNV Uncertain significance 194122 rs199861426 GRCh37: 8:6357416-6357416
GRCh38: 8:6499895-6499895
39 MCPH1 NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) SNV Uncertain significance 158822 rs201405704 GRCh37: 8:6302922-6302922
GRCh38: 8:6445401-6445401
40 MCPH1 NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) SNV Uncertain significance 435832 rs146744659 GRCh37: 8:6303028-6303028
GRCh38: 8:6445507-6445507
41 MCPH1 NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) SNV Uncertain significance 431867 rs751512309 GRCh37: 8:6338366-6338366
GRCh38: 8:6480845-6480845
42 MCPH1 NM_024596.5(MCPH1):c.322-1G>C SNV Uncertain significance 632028 rs201721894 GRCh37: 8:6293568-6293568
GRCh38: 8:6436047-6436047
43 MCPH1 NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) SNV Uncertain significance 211448 rs41313952 GRCh37: 8:6299671-6299671
GRCh38: 8:6442150-6442150
44 MCPH1 NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) SNV Uncertain significance 731332 rs757012933 GRCh37: 8:6299659-6299659
GRCh38: 8:6442138-6442138
45 MCPH1 NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) SNV Uncertain significance 727404 rs201026769 GRCh37: 8:6302476-6302476
GRCh38: 8:6444955-6444955
46 CENPJ , RNF17 NM_018451.5(CENPJ):c.3737C>T (p.Thr1246Met) SNV Uncertain significance 1028113 GRCh37: 13:25458188-25458188
GRCh38: 13:24884050-24884050
47 MCPH1 NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp) SNV Uncertain significance 1028326 GRCh37: 8:6302524-6302524
GRCh38: 8:6445003-6445003
48 MCPH1 NM_024596.5(MCPH1):c.149T>G (p.Val50Gly) SNV Uncertain significance 1032178 GRCh37: 8:6272320-6272320
GRCh38: 8:6414799-6414799
49 MCPH1 NM_024596.5(MCPH1):c.151A>G (p.Ile51Val) SNV Uncertain significance 1032179 GRCh37: 8:6272322-6272322
GRCh38: 8:6414801-6414801
50 MCPH1-AS1 , MCPH1 NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp) SNV Uncertain significance 363562 rs200820759 GRCh37: 8:6479054-6479054
GRCh38: 8:6621533-6621533

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 1, Primary, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 MCPH1 p.Thr27Arg VAR_046745 rs199422124

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Expression for Microcephaly 1, Primary, Autosomal Recessive

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Search GEO for disease gene expression data for Microcephaly 1, Primary, Autosomal Recessive.
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Pathways for Microcephaly 1, Primary, Autosomal Recessive

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GO Terms for Microcephaly 1, Primary, Autosomal Recessive

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Biological processes related to Microcephaly 1, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centriole replication GO:0007099 8.96 CEP152 CENPJ
2 neuronal stem cell population maintenance GO:0097150 8.62 MCPH1 ASPM
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Sources for Microcephaly 1, Primary, Autosomal Recessive

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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