MCID: MCR247
MIFTS: 30

Microcephaly 1, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 1, Primary, Autosomal Recessive

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

Name: Microcephaly 1, Primary, Autosomal Recessive 57 75 13
Premature Chromosome Condensation with Microcephaly and Mental Retardation 57 75
Premature Chromosome Condensation Syndrome 57 75
Primary Autosomal Recessive Microcephaly 1 29 6
Pcc Syndrome 57 75
Mcph1 57 75
Microcephaly, Type 1, Primary, Autosomal Recessive 40
Microcephaly, Primary Autosomal Recessive, 1 73
Autosomal Recessive Primary Microcephaly 73
Microcephaly Vera 75
True Microcephaly 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microcephaly 1, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Microcephaly 1, Primary, Autosomal Recessive, also known as premature chromosome condensation with microcephaly and mental retardation, is related to microcephaly and autosomal recessive 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 microcephaly and intellectual disability

UniProtKB/Swiss-Prot : 75 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.

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 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 Autosomal Recessive Primary Microcephaly

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 microcephaly 11.7
2 autosomal recessive primary microcephaly 11.3
3 seckel syndrome 11.1
4 autosomal recessive non-syndromic intellectual disability 11.0
5 physical disorder 11.0
6 congenital nervous system abnormality 11.0
7 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.9
8 microcephaly 4, primary, autosomal recessive 10.9
9 microcephaly 5, primary, autosomal recessive 10.9
10 microcephaly 9, primary, autosomal recessive 10.9
11 microcephaly 10, primary, autosomal recessive 10.9
12 microcephaly 17, primary, autosomal recessive 10.9
13 breast cancer 9.9
14 leukemia, chronic lymphocytic 2 9.8
15 leukemia, chronic lymphocytic 9.8
16 otitis media 9.8
17 autism 9.8
18 lung cancer 9.8
19 cervical cancer 9.8
20 gastric cancer 9.8
21 craniosynostosis 9.8
22 leukemia 9.8
23 malignant glioma 9.8
24 oral squamous cell carcinoma 9.8
25 autism spectrum disorder 9.8
26 squamous cell carcinoma 9.8
27 cervicitis 9.8
28 glioma 9.8
29 leukemia, b-cell, chronic 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (in some patients)

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

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

Laboratory Abnormalities:
premature chromosome condensation


Clinical features from OMIM:

251200

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 small cerebral cortex 32 HP:0002472
5 increased rate of premature chromosome condensation 32 HP:0003451
6 short stature 32 occasional (7.5%) HP:0004322

Drugs & Therapeutics for Microcephaly 1, Primary, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Microcephaly Genetic Deficiency in Neural Progenitors Completed NCT01565005
2 Enhancing Diagnosis and Prevention of Cardiovascular Disease in Newham by Integrated Use of Electronic Health Records Completed NCT02486913 Not Applicable

Search 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 Primary Autosomal Recessive Microcephaly 1 29 MCPH1

Anatomical Context for Microcephaly 1, Primary, Autosomal Recessive

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

41
Brain, Cortex, Fetal Brain

Publications for Microcephaly 1, Primary, Autosomal Recessive

Articles related to Microcephaly 1, Primary, Autosomal Recessive:

# Title Authors Year
1
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. ( 20101680 )
2010

Variations for Microcephaly 1, Primary, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 MCPH1 p.Thr27Arg VAR_046745 rs199422124

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

6
(show top 50) (show all 95)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCPH1 NM_024596.4(MCPH1): c.74C> G (p.Ser25Ter) single nucleotide variant Pathogenic rs121434305 GRCh37 Chromosome 8, 6266851: 6266851
2 MCPH1 NM_024596.4(MCPH1): c.74C> G (p.Ser25Ter) single nucleotide variant Pathogenic rs121434305 GRCh38 Chromosome 8, 6409330: 6409330
3 MCPH1 NM_024596.4(MCPH1): c.427dupA (p.Thr143Asnfs) duplication Pathogenic/Likely pathogenic rs199422125 GRCh37 Chromosome 8, 6293674: 6293674
4 MCPH1 NM_024596.4(MCPH1): c.427dupA (p.Thr143Asnfs) duplication Pathogenic/Likely pathogenic rs199422125 GRCh38 Chromosome 8, 6436153: 6436153
5 MCPH1 NC_000008.11: g.(?_6406592)_(6439097_6442066)del deletion Pathogenic GRCh37 Chromosome 8, 6264113: 6299587
6 MCPH1 NC_000008.11: g.(?_6406592)_(6439097_6442066)del deletion Pathogenic GRCh38 Chromosome 8, 6406592: 6442066
7 MCPH1 NM_024596.4(MCPH1): c.80C> G (p.Thr27Arg) single nucleotide variant Pathogenic rs199422124 GRCh37 Chromosome 8, 6266857: 6266857
8 MCPH1 NM_024596.4(MCPH1): c.80C> G (p.Thr27Arg) single nucleotide variant Pathogenic rs199422124 GRCh38 Chromosome 8, 6409336: 6409336
9 MCPH1 MCPH1, 1-BP INS, 566A insertion Pathogenic
10 MCPH1 MCPH1, HIS49GLN single nucleotide variant Pathogenic
11 MCPH1 NM_024596.4(MCPH1): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs387906961 GRCh37 Chromosome 8, 6272386: 6272386
12 MCPH1 NM_024596.4(MCPH1): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs387906961 GRCh38 Chromosome 8, 6414865: 6414865
13 MCPH1 MCPH1, SER101TER single nucleotide variant Pathogenic
14 MCPH1 NM_024596.4(MCPH1): c.128T> C (p.Phe43Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587783733 GRCh37 Chromosome 8, 6272299: 6272299
15 MCPH1 NM_024596.4(MCPH1): c.128T> C (p.Phe43Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587783733 GRCh38 Chromosome 8, 6414778: 6414778
16 MCPH1 NM_024596.4(MCPH1): c.228G> T (p.Val76=) single nucleotide variant Benign rs2305022 GRCh37 Chromosome 8, 6272399: 6272399
17 MCPH1 NM_024596.4(MCPH1): c.228G> T (p.Val76=) single nucleotide variant Benign rs2305022 GRCh38 Chromosome 8, 6414878: 6414878
18 MCPH1 NM_024596.4(MCPH1): c.278C> A (p.Ala93Glu) single nucleotide variant Likely pathogenic rs587783741 GRCh37 Chromosome 8, 6289064: 6289064
19 MCPH1 NM_024596.4(MCPH1): c.278C> A (p.Ala93Glu) single nucleotide variant Likely pathogenic rs587783741 GRCh38 Chromosome 8, 6431543: 6431543
20 MCPH1 NM_024596.4(MCPH1): c.305G> C (p.Ser102Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs2290145 GRCh37 Chromosome 8, 6289091: 6289091
21 MCPH1 NM_024596.4(MCPH1): c.305G> C (p.Ser102Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs2290145 GRCh38 Chromosome 8, 6431570: 6431570
22 MCPH1 NM_024596.4(MCPH1): c.433C> G (p.Leu145Val) single nucleotide variant Uncertain significance rs139607465 GRCh37 Chromosome 8, 6293680: 6293680
23 MCPH1 NM_024596.4(MCPH1): c.433C> G (p.Leu145Val) single nucleotide variant Uncertain significance rs139607465 GRCh38 Chromosome 8, 6436159: 6436159
24 MCPH1 NM_024596.4(MCPH1): c.477A> T (p.Ser159=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313948 GRCh37 Chromosome 8, 6296514: 6296514
25 MCPH1 NM_024596.4(MCPH1): c.477A> T (p.Ser159=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313948 GRCh38 Chromosome 8, 6438993: 6438993
26 MCPH1 NM_024596.4(MCPH1): c.614C> T (p.Pro205Leu) single nucleotide variant Uncertain significance rs587783742 GRCh37 Chromosome 8, 6299621: 6299621
27 MCPH1 NM_024596.4(MCPH1): c.614C> T (p.Pro205Leu) single nucleotide variant Uncertain significance rs587783742 GRCh38 Chromosome 8, 6442100: 6442100
28 MCPH1 NM_024596.4(MCPH1): c.867G> A (p.Gln289=) single nucleotide variant Conflicting interpretations of pathogenicity rs201231900 GRCh37 Chromosome 8, 6302110: 6302110
29 MCPH1 NM_024596.4(MCPH1): c.867G> A (p.Gln289=) single nucleotide variant Conflicting interpretations of pathogenicity rs201231900 GRCh38 Chromosome 8, 6444589: 6444589
30 MCPH1 NM_024596.4(MCPH1): c.898A> G (p.Ile300Val) single nucleotide variant Uncertain significance rs587783743 GRCh37 Chromosome 8, 6302141: 6302141
31 MCPH1 NM_024596.4(MCPH1): c.898A> G (p.Ile300Val) single nucleotide variant Uncertain significance rs587783743 GRCh38 Chromosome 8, 6444620: 6444620
32 MCPH1 NM_024596.4(MCPH1): c.911G> T (p.Arg304Ile) single nucleotide variant Benign/Likely benign rs2083914 GRCh37 Chromosome 8, 6302154: 6302154
33 MCPH1 NM_024596.4(MCPH1): c.911G> T (p.Arg304Ile) single nucleotide variant Benign/Likely benign rs2083914 GRCh38 Chromosome 8, 6444633: 6444633
34 MCPH1 NM_024596.4(MCPH1): c.1061T> C (p.Val354Ala) single nucleotide variant Uncertain significance rs148526209 GRCh37 Chromosome 8, 6302304: 6302304
35 MCPH1 NM_024596.4(MCPH1): c.1061T> C (p.Val354Ala) single nucleotide variant Uncertain significance rs148526209 GRCh38 Chromosome 8, 6444783: 6444783
36 MCPH1 NM_024596.4(MCPH1): c.1113C> T (p.Cys371=) single nucleotide variant Uncertain significance rs587783732 GRCh37 Chromosome 8, 6302356: 6302356
37 MCPH1 NM_024596.4(MCPH1): c.1113C> T (p.Cys371=) single nucleotide variant Uncertain significance rs587783732 GRCh38 Chromosome 8, 6444835: 6444835
38 MCPH1 NM_024596.4(MCPH1): c.1189G> A (p.Val397Met) single nucleotide variant Uncertain significance rs539491399 GRCh37 Chromosome 8, 6302432: 6302432
39 MCPH1 NM_024596.4(MCPH1): c.1189G> A (p.Val397Met) single nucleotide variant Uncertain significance rs539491399 GRCh38 Chromosome 8, 6444911: 6444911
40 MCPH1 NM_024596.4(MCPH1): c.1273T> A (p.Tyr425Asn) single nucleotide variant Uncertain significance rs201261159 GRCh37 Chromosome 8, 6302516: 6302516
41 MCPH1 NM_024596.4(MCPH1): c.1273T> A (p.Tyr425Asn) single nucleotide variant Uncertain significance rs201261159 GRCh38 Chromosome 8, 6444995: 6444995
42 MCPH1 NM_024596.4(MCPH1): c.1351G> A (p.Glu451Lys) single nucleotide variant Uncertain significance rs202004426 GRCh37 Chromosome 8, 6302594: 6302594
43 MCPH1 NM_024596.4(MCPH1): c.1351G> A (p.Glu451Lys) single nucleotide variant Uncertain significance rs202004426 GRCh38 Chromosome 8, 6445073: 6445073
44 MCPH1 NM_024596.4(MCPH1): c.1616A> G (p.Asp539Gly) single nucleotide variant Uncertain significance rs587783734 GRCh37 Chromosome 8, 6302859: 6302859
45 MCPH1 NM_024596.4(MCPH1): c.1616A> G (p.Asp539Gly) single nucleotide variant Uncertain significance rs587783734 GRCh38 Chromosome 8, 6445338: 6445338
46 MCPH1 NM_024596.4(MCPH1): c.1679G> T (p.Ser560Ile) single nucleotide variant Uncertain significance rs201405704 GRCh37 Chromosome 8, 6302922: 6302922
47 MCPH1 NM_024596.4(MCPH1): c.1679G> T (p.Ser560Ile) single nucleotide variant Uncertain significance rs201405704 GRCh38 Chromosome 8, 6445401: 6445401
48 MCPH1 NM_024596.4(MCPH1): c.1716C> T (p.Asn572=) single nucleotide variant Uncertain significance rs141218500 GRCh37 Chromosome 8, 6302959: 6302959
49 MCPH1 NM_024596.4(MCPH1): c.1716C> T (p.Asn572=) single nucleotide variant Uncertain significance rs141218500 GRCh38 Chromosome 8, 6445438: 6445438
50 MCPH1 NM_024596.4(MCPH1): c.1742A> G (p.Glu581Gly) single nucleotide variant Uncertain significance rs35402812 GRCh37 Chromosome 8, 6302985: 6302985

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

Sources for Microcephaly 1, Primary, Autosomal Recessive

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