MCPH1
MCID: MCR247
MIFTS: 45

Microcephaly 1, Primary, Autosomal Recessive (MCPH1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Microcephaly 1, Primary, Autosomal Recessive

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

Name: Microcephaly 1, Primary, Autosomal Recessive 57 73 28 5
Mcph1 57 11 73 75
Microcephaly, Primary Autosomal Recessive, 1 12 71
Premature Chromosome Condensation Syndrome 57 73
Primary Autosomal Recessive Microcephaly 1 11 14
Pcc Syndrome 57 73
Premature Chromosome Condensation with Microcephaly and Mental Retardation 57
Microcephaly, Type 1, Primary, Autosomal Recessive 38
Autosomal Recessive Primary Microcephaly 71
True Microcephaly 73
Microcephaly Vera 73

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0070285
OMIM® 57 251200
OMIM Phenotypic Series 57 PS251200
MeSH 43 D008831
MedGen 40 C1855081
UMLS 71 C1855081 C3711387

Summaries for Microcephaly 1, Primary, Autosomal Recessive

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 08-Dec-2022)

MalaCards based summary: Microcephaly 1, Primary, Autosomal Recessive, also known as mcph1, is related to primary microcephaly and microcephaly 10, primary, autosomal recessive. An important gene associated with Microcephaly 1, Primary, Autosomal Recessive is MCPH1 (Microcephalin 1). Affiliated tissues include fetal brain, brain and cortex, and related phenotypes are short stature and intellectual disability

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.

Related Diseases for Microcephaly 1, Primary, Autosomal Recessive

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
Microcephaly 28, Primary, Autosomal Recessive Microcephaly 29, Primary, Autosomal Recessive
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 98)
# Related Disease Score Top Affiliating Genes
1 primary microcephaly 32.0 MCPH1 CENPJ ASPM
2 microcephaly 10, primary, autosomal recessive 32.0 MCPH1 CENPJ
3 microcephaly 17, primary, autosomal recessive 31.9 MCPH1 CENPJ ASPM
4 microcephaly 9, primary, autosomal recessive 31.9 MCPH1 CENPJ ASPM
5 microcephaly 5, primary, autosomal recessive 31.9 MCPH1 CENPJ ASPM
6 seckel syndrome 31.8 MCPH1 CENPJ ASPM
7 primary autosomal recessive microcephaly 31.6 MCPH1-AS1 MCPH1 CENPJ ASPM ANGPT2
8 microcephaly 14, primary, autosomal recessive 31.5 MCPH1 CENPJ
9 microcephaly 11, primary, autosomal recessive 31.5 MCPH1 CENPJ
10 microcephaly 12, primary, autosomal recessive 31.5 MCPH1 CENPJ
11 microcephaly 13, primary, autosomal recessive 31.4 MCPH1 CENPJ ASPM
12 microcephaly 18, primary, autosomal dominant 31.4 MCPH1 CENPJ ASPM
13 seckel syndrome 4 31.4 MCPH1 CENPJ ASPM
14 microcephalic osteodysplastic primordial dwarfism, type ii 31.4 MCPH1 CENPJ ASPM
15 miller-dieker lissencephaly syndrome 31.4 MCPH1 CENPJ ASPM
16 band heterotopia 31.3 MCPH1 CENPJ ASPM
17 periventricular nodular heterotopia 31.3 MCPH1 CENPJ ASPM
18 seckel syndrome 2 31.3 MCPH1 CENPJ
19 physical disorder 31.2 MCPH1 CENPJ ASPM
20 isolated growth hormone deficiency, type ia 31.0 PROP1 MCPH1 CENPJ ASPM
21 congenital nervous system abnormality 30.9 PROP1 MCPH1 EXOSC3 CENPJ ASPM
22 seckel syndrome 5 30.0 PROP1 NNT MCPH1 EXOSC3 CENPJ ASPH
23 microcephaly 11.4
24 ataxia-telangiectasia 11.1
25 chromosome 2q35 duplication syndrome 11.0
26 cerebral palsy 11.0
27 nervous system disease 11.0
28 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.9
29 microcephaly 4, primary, autosomal recessive 10.9
30 microcephaly 19, primary, autosomal recessive 10.9
31 microcephaly 26, primary, autosomal dominant 10.9
32 microcephaly 27, primary, autosomal dominant 10.9
33 microcephaly 28, primary, autosomal recessive 10.9
34 microcephaly 29, primary, autosomal recessive 10.9
35 williams-beuren syndrome 10.9
36 autosomal recessive intellectual developmental disorder 10.9
37 tympanosclerosis 10.8
38 tympanic membrane disease 10.8
39 lymphatic malformation 10 10.2 MCPH1 ANGPT2
40 ovarian cancer 10.1
41 isolated growth hormone deficiency 10.1 PROP1 CENPJ
42 otitis media 10.1
43 lung cancer 10.1
44 brain cancer 10.1
45 lissencephaly 10.0 EXOSC3 CENPJ ASPM
46 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.0
47 breast cancer 10.0
48 small cell cancer of the lung 10.0
49 autism 10.0
50 autism spectrum disorder 10.0

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



Diseases related to Microcephaly 1, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 1, Primary, Autosomal Recessive

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

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 30 Occasional (7.5%) HP:0004322
2 intellectual disability 30 HP:0001249
3 seizure 30 HP:0001250
4 microcephaly 30 HP:0000252
5 small cerebral cortex 30 HP:0002472
6 increased rate of premature chromosome condensation 30 HP:0003451

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Microcephaly 1, Primary, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 AKAP9 ANGPT2 ASPH ASPM CENPJ EXOSC3
2 growth/size/body region MP:0005378 9.81 AKAP9 ASPH ASPM CENPJ EXOSC3 MCPH1
3 endocrine/exocrine gland MP:0005379 9.56 AKAP9 ANGPT2 ASPM CENPJ MCPH1 NNT
4 reproductive system MP:0005389 9.23 AKAP9 ANGPT2 ASPH ASPM CENPJ MCPH1

Drugs & Therapeutics for Microcephaly 1, Primary, Autosomal Recessive

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

Genetic Tests for Microcephaly 1, Primary, Autosomal Recessive

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

# Genetic test Affiliating Genes
1 Microcephaly 1, Primary, Autosomal Recessive 28 MCPH1

Anatomical Context for Microcephaly 1, Primary, Autosomal Recessive

Organs/tissues related to Microcephaly 1, Primary, Autosomal Recessive:

MalaCards : Fetal Brain, Brain, Cortex, Breast, Lung, Colon, Myeloid

Publications for Microcephaly 1, Primary, Autosomal Recessive

Articles related to Microcephaly 1, Primary, Autosomal Recessive:

(show top 50) (show all 254)
# Title Authors PMID Year
1
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 62 57 5
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. 62 57 5
20101680 2010
3
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. 62 57 5
16311745 2006
4
Mutations in microcephalin cause aberrant regulation of chromosome condensation. 62 57 5
15199523 2004
5
Identification of microcephalin, a protein implicated in determining the size of the human brain. 62 57 5
12046007 2002
6
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. 57 5
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 5
7693575 1993
8
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. 62 5
16783362 2006
9
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 62 57
15806441 2005
10
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. 62 57
9683597 1998
11
[Concerning the simple recessive character of true, spurious & combined microcephaly & concerning the localized occurrence of true microcephaly in Swiss isolates]. 62 57
13594234 1958
12
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 5
32576985 2020
13
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. 57
20949544 2010
14
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 57
15793586 2005
15
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. 57
11078481 2000
16
Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose. 57
8585559 1995
17
Premature chromosome condensation is induced by a point mutation in the hamster RCC1 gene. 57
2300055 1990
18
Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. 57
3307411 1987
19
Molecular cloning of a human gene that regulates chromosome condensation and is essential for cell proliferation. 57
3785187 1986
20
Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. 57
2998187 1985
21
A biometric analysis of brain size in micrencephalics. 57
6737015 1984
22
A possible major contribution to mental retardation in the general population by the gene for microcephaly. 57
1132165 1975
23
A problem in diagnosis of primary versus secondary microcephaly. 57
4691556 1973
24
MANIFESTATIONS OF A RECESSIVE GENE FOR MICROCEPHALY IN A POPULATION ISOLATE. 57
14192065 1964
25
Microcephaly. 57
14025412 1962
26
The genetics and sub-classification of microcephaly. 57
13812499 1960
27
Microcephaly in the Netherlands: a clinical and genetical study. 57
13637554 1959
28
Microcephaly in one of monozygous twins. 57
13628231 1959
29
Genetics of microcephaly in man. 57
13626499 1959
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
The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice. 62
36078123 2022
33
Validation of a Novel Double Control Quantitative Copy Number PCR Method to Quantify Off-Target Transgene Integration after CRISPR-Induced DNA Modification. 62
35736544 2022
34
Genotoxic hazard assessment of cerium oxide and magnesium oxide nanoparticles in Drosophila. 62
35818303 2022
35
MCPH1: A Novel Case Report and a Review of the Literature. 62
35456440 2022
36
Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease. 62
35132965 2022
37
Genetic modulation of longitudinal change in neurocognitive function among adult glioma patients. 62
34817796 2022
38
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. 62
35281599 2022
39
Multifaceted Microcephaly-Related Gene MCPH1. 62
35053391 2022
40
MCPH1 inhibits Condensin II during interphase by regulating its SMC2-Kleisin interface. 62
34850681 2021
41
MCPH1, beyond its role deciding the brain size. 62
34705666 2021
42
Modified Dual Docking Robotic Surgery for Hereditary Paraganglioma-Pheochromocytoma Syndrome. 62
34513515 2021
43
The REASON score: an epigenetic and clinicopathologic score to predict risk of poor survival in patients with early stage oral squamous cell carcinoma. 62
34090518 2021
44
Genome-Wide Identification of Cis-acting Expression QTLs in Large Yellow Croaker. 62
33507423 2021
45
Identification of Breast Cancer Subtype-Specific Biomarkers by Integrating Copy Number Alterations and Gene Expression Profiles. 62
33809336 2021
46
Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly. 62
32614431 2021
47
The N-terminal BRCT domain determines MCPH1 function in brain development and fertility. 62
33542216 2021
48
Tone and genes: New cross-linguistic data and methods support the weak negative effect of the "derived" allele of ASPM on tone, but not of Microcephalin. 62
34191836 2021
49
The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction. 62
33094427 2021
50
Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment. 62
32996353 2021

Variations for Microcephaly 1, Primary, Autosomal Recessive

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

5 (show top 50) (show all 185)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASPM NM_018136.5(ASPM):c.5863dup (p.Gln1955fs) DUP Pathogenic
694714 rs1571600860 GRCh37: 1:197072517-197072518
GRCh38: 1:197103387-197103388
2 ASPM NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) DEL Pathogenic
694722 rs1558328287 GRCh37: 1:197070180-197070181
GRCh38: 1:197101050-197101051
3 overlap with 2 genes NC_000008.10:g.(?_6264113)_(6296618_6299587)del DEL Pathogenic
3456 GRCh37: 8:6264113-6299587
GRCh38: 8:6406592-6442066
4 MCPH1 NM_024596.5(MCPH1):c.147C>G (p.His49Gln) SNV Pathogenic
30640 rs1488084787 GRCh37: 8:6272318-6272318
GRCh38: 8:6414797-6414797
5 MCPH1 NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) SNV Pathogenic
30642 rs755862917 GRCh37: 8:6289088-6289088
GRCh38: 8:6431567-6431567
6 overlap with 3 genes NC_000008.10:g.(6060654_6061169)_(6310738_6317266)del DEL Pathogenic
208150 GRCh37: 8:6060654-6317266
GRCh38: 8:6203133-6459745
7 MCPH1 NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) SNV Pathogenic
586140 rs748011724 GRCh37: 8:6302868-6302868
GRCh38: 8:6445347-6445347
8 overlap with 2 genes GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521) CN LOSS Pathogenic
916000 GRCh37: 8:6160874-6500521
GRCh38:
9 MCPH1 GRCh37/hg19 8p23.1(chr8:6261036-6312712) CN LOSS Pathogenic
916001 GRCh37: 8:6261036-6312712
GRCh38:
10 MCPH1 NM_024596.5(MCPH1):c.586del (p.Gln196fs) DEL Pathogenic
987894 rs1803595754 GRCh37: 8:6299591-6299591
GRCh38: 8:6442070-6442070
11 MCPH1 NM_024596.5(MCPH1):c.321dup (p.Arg108fs) DUP Pathogenic
523934 rs759663956 GRCh37: 8:6289098-6289099
GRCh38: 8:6431577-6431578
12 MCPH1-AS1, MCPH1 NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) SNV Pathogenic
1324707 GRCh37: 8:6478981-6478981
GRCh38: 8:6621460-6621460
13 MCPH1 NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) DEL Pathogenic
158830 rs587783735 GRCh37: 8:6312707-6312708
GRCh38: 8:6455186-6455187
14 MCPH1 NM_024596.5(MCPH1):c.313A>T (p.Lys105Ter) SNV Pathogenic
489240 rs1424203921 GRCh37: 8:6289099-6289099
GRCh38: 8:6431578-6431578
15 MCPH1-AS1, MCPH1 NM_024596.5(MCPH1):c.2453-1G>C SNV Pathogenic
158863 rs587783739 GRCh37: 8:6500514-6500514
GRCh38: 8:6642993-6642993
16 MCPH1 NM_024596.5(MCPH1):c.22+2_22+4del DEL Pathogenic
435838 rs1554471681 GRCh37: 8:6264212-6264214
GRCh38: 8:6406691-6406693
17 MCPH1 NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer) DEL Pathogenic
1705328 GRCh37: 8:6296514-6296514
GRCh38: 8:6438993-6438993
18 MCPH1 NM_024596.5(MCPH1):c.427dup (p.Thr143fs) DUP Pathogenic
3455 rs199422125 GRCh37: 8:6293668-6293669
GRCh38: 8:6436147-6436148
19 CENPJ NM_018451.5(CENPJ):c.18del (p.Ser7fs) DEL Pathogenic
1817 rs199422202 GRCh37: 13:25487146-25487146
GRCh38: 13:24913008-24913008
20 MCPH1 NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) SNV Pathogenic
3454 rs121434305 GRCh37: 8:6266851-6266851
GRCh38: 8:6409330-6409330
21 ASPM NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) SNV Pathogenic
21569 rs199422151 GRCh37: 1:197094320-197094320
GRCh38: 1:197125190-197125190
22 ASPM NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) SNV Pathogenic
21570 rs199422152 GRCh37: 1:197094291-197094291
GRCh38: 1:197125161-197125161
23 MCPH1 NM_024596.5(MCPH1):c.566dup (p.Asn189fs) DUP Pathogenic
30639 rs753597039 GRCh37: 8:6296599-6296600
GRCh38: 8:6439078-6439079
24 MCPH1 NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) SNV Pathogenic
30641 rs387906961 GRCh37: 8:6272386-6272386
GRCh38: 8:6414865-6414865
25 ASPM NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) DEL Pathogenic
21606 rs199422173 GRCh37: 1:197070598-197070599
GRCh38: 1:197101468-197101469
26 MCPH1 NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) INSERT Likely Pathogenic
435835 rs1554496609 GRCh37: 8:6312761-6312762
GRCh38: 8:6455240-6455241
27 MCPH1 NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) SNV Likely Pathogenic
158867 rs587783741 GRCh37: 8:6289064-6289064
GRCh38: 8:6431543-6431543
28 MCPH1 NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) SNV Likely Pathogenic
158819 rs587783733 GRCh37: 8:6272299-6272299
GRCh38: 8:6414778-6414778
29 MCPH1 NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile) SNV Likely Pathogenic
1065484 GRCh37: 8:6272314-6272314
GRCh38: 8:6414793-6414793
30 MCPH1 NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys) SNV Likely Pathogenic
997786 GRCh37: 8:6266841-6266841
GRCh38: 8:6409320-6409320
31 MCPH1 NM_024596.5(MCPH1):c.114+1G>T SNV Likely Pathogenic
1324708 GRCh37: 8:6266892-6266892
GRCh38: 8:6409371-6409371
32 MCPH1 NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer) DEL Likely Pathogenic
1324709 GRCh37: 8:6338388-6338389
GRCh38: 8:6480867-6480868
33 MCPH1 NM_024596.5(MCPH1):c.1935+1G>T SNV Likely Pathogenic
1324710 rs752837724 GRCh37: 8:6312774-6312774
GRCh38: 8:6455253-6455253
34 MCPH1 NM_024596.5(MCPH1):c.2002del (p.Asp668fs) DEL Likely Pathogenic
931382 rs1809112398 GRCh37: 8:6338262-6338262
GRCh38: 8:6480741-6480741
35 MCPH1 NM_024596.5(MCPH1):c.1974-2A>G SNV Likely Pathogenic
420681 rs541042265 GRCh37: 8:6338233-6338233
GRCh38: 8:6480712-6480712
36 MCPH1 NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) SNV Likely Pathogenic
267732 rs572671721 GRCh37: 8:6302804-6302804
GRCh38: 8:6445283-6445283
37 ANGPT2, MCPH1 NM_024596.5(MCPH1):c.2214+2T>C SNV Likely Pathogenic
873472 rs575037500 GRCh37: 8:6357452-6357452
GRCh38: 8:6499931-6499931
38 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
39 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
40 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
41 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
42 MCPH1 NM_024596.5(MCPH1):c.477A>T (p.Ser159=) SNV Uncertain Significance
158870 rs41313948 GRCh37: 8:6296514-6296514
GRCh38: 8:6438993-6438993
43 MCPH1-AS1, MCPH1 NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) SNV Uncertain Significance
158856 rs45540031 GRCh37: 8:6479161-6479161
GRCh38: 8:6621640-6621640
44 MCPH1 NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) SNV Uncertain Significance
211449 rs199700538 GRCh37: 8:6302026-6302026
GRCh38: 8:6444505-6444505
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 ANGPT2, MCPH1 NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) SNV Uncertain Significance
194122 rs199861426 GRCh37: 8:6357416-6357416
GRCh38: 8:6499895-6499895
47 MCPH1 NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) SNV Uncertain Significance
363525 rs548329168 GRCh37: 8:6302646-6302646
GRCh38: 8:6445125-6445125
48 MCPH1 NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn) SNV Uncertain Significance
1333265 GRCh37: 8:6272306-6272306
GRCh38: 8:6414785-6414785
49 MCPH1 NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) SNV Uncertain Significance
1333562 GRCh37: 8:6302673-6302673
GRCh38: 8:6445152-6445152
50 MCPH1 NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) SNV Uncertain Significance
499423 rs556803400 GRCh37: 8:6302457-6302457
GRCh38: 8:6444936-6444936

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

73
# Symbol AA change Variation ID SNP ID
1 MCPH1 p.Thr27Arg VAR_046745 rs199422124

Expression for Microcephaly 1, Primary, Autosomal Recessive

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

Pathways for Microcephaly 1, Primary, Autosomal Recessive

GO Terms for Microcephaly 1, Primary, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 neuronal stem cell population maintenance GO:0097150 9.46 MCPH1 ASPM
2 microtubule nucleation GO:0007020 9.26 CENPJ AKAP9
3 maintenance of centrosome location GO:0051661 8.92 ASPM AKAP9

Sources for Microcephaly 1, Primary, Autosomal Recessive

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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35 IUPHAR
36 LifeMap
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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