Microcephaly 1, Primary, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

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 ¹¹ DOID:0070285

OMIM® ⁵⁷ 251200

OMIM Phenotypic Series ⁵⁷ PS251200

MeSH ⁴³ D008831

MedGen ⁴⁰ C1855081

SNOMED-CT via HPO ⁶⁹ 128613002 228156007 237836003 more

UMLS ⁷¹ C1855081 C3711387

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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.

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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:

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Symptoms & Phenotypes for Microcephaly 1, Primary, Autosomal Recessive

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

³⁰ (show all 6)

#	Description	HPO 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

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Drugs & Therapeutics for Microcephaly 1, Primary, Autosomal Recessive

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

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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

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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

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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	Darvish H...Najmabadi H	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	Farooq M...Kjaer KW	20101680	2010
3	SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. ⁶² ⁵⁷ ⁵	Garshasbi M...Najmabadi H	16311745	2006
4	Mutations in microcephalin cause aberrant regulation of chromosome condensation. ⁶² ⁵⁷ ⁵	Trimborn M...Jackson AP	15199523	2004
5	Identification of microcephalin, a protein implicated in determining the size of the human brain. ⁶² ⁵⁷ ⁵	Jackson AP...Woods CG	12046007	2002
6	Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. ⁵⁷ ⁵	Neitzel H...Sperling K	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	Tommerup N...Mikkelsen M	7693575	1993
8	Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. ⁶² ⁵	Alderton GK...O'Driscoll M	16783362	2006
9	Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. ⁶² ⁵⁷	Woods CG...Enard W	15806441	2005
10	Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. ⁶² ⁵⁷	Jackson AP...Woods CG	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	HANHART E	13594234	1958
12	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. ⁵	Yuan B...Bi W	32576985	2020
13	Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. ⁵⁷	Scala I...Andria G	20949544	2010
14	A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. ⁵⁷	Bond J...Woods CG	15793586	2005
15	A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. ⁵⁷	Pattison L...Woods CG	11078481	2000
16	Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose. ⁵⁷	Rizzo R...Pavone L	8585559	1995
17	Premature chromosome condensation is induced by a point mutation in the hamster RCC1 gene. ⁵⁷	Uchida S...Nishimoto T	2300055	1990
18	Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. ⁵⁷	Tolmie JL...Connor JM	3307411	1987
19	Molecular cloning of a human gene that regulates chromosome condensation and is essential for cell proliferation. ⁵⁷	Kai R...Nishimoto T	3785187	1986
20	Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. ⁵⁷	Mikati MA...Der Kaloustian VM	2998187	1985
21	A biometric analysis of brain size in micrencephalics. ⁵⁷	Hofman MA	6737015	1984
22	A possible major contribution to mental retardation in the general population by the gene for microcephaly. ⁵⁷	Qazi QH...Reed TE	1132165	1975
23	A problem in diagnosis of primary versus secondary microcephaly. ⁵⁷	Qazi QH...Reed TE	4691556	1973
24	MANIFESTATIONS OF A RECESSIVE GENE FOR MICROCEPHALY IN A POPULATION ISOLATE. ⁵⁷	KLOEPFER HW...HANSCHE WJ	14192065	1964
25	Microcephaly. ⁵⁷	DAVIES H...KIRMAN BH	14025412	1962
26	The genetics and sub-classification of microcephaly. ⁵⁷	COWIE V	13812499	1960
27	Microcephaly in the Netherlands: a clinical and genetical study. ⁵⁷	VAN DEN BOSCH J	13637554	1959
28	Microcephaly in one of monozygous twins. ⁵⁷	BRANDON MG...WILLIAMS CE	13628231	1959
29	Genetics of microcephaly in man. ⁵⁷	KOCH G	13626499	1959
30	Genetic study of microcephaly based on Japanese material. ⁵⁷	KOMAI T...OZAKI Y	14361394	1955
31	Anomalies occurring in children exposed in utero to the atomic bomb in Hiroshima. ⁵⁷	PLUMMER G	13003418	1952
32	The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice. ⁶²	Wang Y...Li T	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	Schjeide BM...Puschel GP	35736544	2022
34	Genotoxic hazard assessment of cerium oxide and magnesium oxide nanoparticles in Drosophila. ⁶²	Yalcin B...Kaya B	35818303	2022
35	MCPH1: A Novel Case Report and a Review of the Literature. ⁶²	Caraffi SG...Garavelli L	35456440	2022
36	Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease. ⁶²	Yu M...Priest JR	35132965	2022
37	Genetic modulation of longitudinal change in neurocognitive function among adult glioma patients. ⁶²	Wefel JS...Liu Y	34817796	2022
38	Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. ⁶²	Khan NM...Chang J	35281599	2022
39	Multifaceted Microcephaly-Related Gene MCPH1. ⁶²	Kristofova M...Wang ZQ	35053391	2022
40	MCPH1 inhibits Condensin II during interphase by regulating its SMC2-Kleisin interface. ⁶²	Houlard M...Nasmyth K	34850681	2021
41	MCPH1, beyond its role deciding the brain size. ⁶²	Kristofova M...Wang ZQ	34705666	2021
42	Modified Dual Docking Robotic Surgery for Hereditary Paraganglioma-Pheochromocytoma Syndrome. ⁶²	Wen CY...Lin JT	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	Viet CT...Aouizerat BE	34090518	2021
44	Genome-Wide Identification of Cis-acting Expression QTLs in Large Yellow Croaker. ⁶²	Jiang D...Fang M	33507423	2021
45	Identification of Breast Cancer Subtype-Specific Biomarkers by Integrating Copy Number Alterations and Gene Expression Profiles. ⁶²	Cava C...Castiglioni I	33809336	2021
46	Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly. ⁶²	Anderson D...Jeronimo SMB	32614431	2021
47	The N-terminal BRCT domain determines MCPH1 function in brain development and fertility. ⁶²	Liu X...Wang ZQ	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	Dediu D	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	Cheng D...Tan YQ	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	Oluwole OG...Wonkam A	32996353	2021

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Genes for Microcephaly 1, Primary, Autosomal Recessive

Genes related to Microcephaly 1, Primary, Autosomal Recessive (4 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MCPH1	Microcephalin 1	Protein Coding	1339.56	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	7693575 11857108 12046007 (more) 15199523 16783362 20101680 20978018 32576985
2	CENPJ	Centromere Protein J	Protein Coding	404.24	Pathogenic ⁵ DISEASES inferred ¹⁴
3	ASPM	Assembly Factor For Spindle Microtubules	Protein Coding	403.73	Pathogenic ⁵ DISEASES inferred ¹⁴
4	MCPH1-AS1	MCPH1 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵
5	ANGPT2	Angiopoietin 2	Protein Coding	25	Likely pathogenic ⁵
6	EXOSC3	Exosome Component 3	Protein Coding	6.03	DISEASES inferred ¹⁴
7	SMS	Spermine Synthase	Protein Coding	5.85	DISEASES inferred ¹⁴
8	NIPA1	NIPA Magnesium Transporter 1	Protein Coding	5.69	DISEASES inferred ¹⁴
9	NNT	Nicotinamide Nucleotide Transhydrogenase	Protein Coding	5.59	DISEASES inferred ¹⁴
10	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	5.56	DISEASES inferred ¹⁴
11	SLC38A10	Solute Carrier Family 38 Member 10	Protein Coding	5.52	DISEASES inferred ¹⁴
12	ASPH	Aspartate Beta-Hydroxylase	Protein Coding	5.42	DISEASES inferred ¹⁴
13	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	5.35	DISEASES inferred ¹⁴

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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

Sources

Expression for Microcephaly 1, Primary, Autosomal Recessive

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

Sources

Pathways for Microcephaly 1, Primary, Autosomal Recessive

Sources

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

Sources for Microcephaly 1, Primary, Autosomal Recessive

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCPH1 MCID: MCR247 MIFTS: 45	Microcephaly 1, Primary, Autosomal Recessive (MCPH1) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Microcephaly 1, Primary, Autosomal Recessive (MCPH1)

Aliases & Classifications for Microcephaly 1, Primary, Autosomal Recessive

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

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Microcephaly 1, Primary, Autosomal Recessive

Related Diseases for Microcephaly 1, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics for Microcephaly 1, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 1, Primary, Autosomal Recessive

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

Anatomical Context for Microcephaly 1, Primary, Autosomal Recessive

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Publications for Microcephaly 1, Primary, Autosomal Recessive

Articles related to Microcephaly 1, Primary, Autosomal Recessive:

Genes for Microcephaly 1, Primary, Autosomal Recessive

Genes related to Microcephaly 1, Primary, Autosomal Recessive (4 elite genes):

Variations for Microcephaly 1, Primary, Autosomal Recessive

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

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

Expression 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:

Sources for Microcephaly 1, Primary, Autosomal Recessive