MCID: MCR254
MIFTS: 21

Microcephaly 4, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 4, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 4, Primary, Autosomal Recessive:

Name: Microcephaly 4, Primary, Autosomal Recessive 57 75 13 73
Primary Autosomal Recessive Microcephaly 4 29 6
Mcph4 57 75
Microcephaly, Type 4, Primary, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable dysmorphic features may be present


HPO:

32
microcephaly 4, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 4, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 4, 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.

MalaCards based summary : Microcephaly 4, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 4, is related to microcephaly. An important gene associated with Microcephaly 4, Primary, Autosomal Recessive is KNL1 (Kinetochore Scaffold 1). Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and microcephaly

OMIM : 57 Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (604321)

Related Diseases for Microcephaly 4, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 4, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly (-4 to -7 sd)

Head And Neck Eyes:
thick eyebrows
synophrys
hypertelorism

Neurologic Central Nervous System:
mental retardation, mild to moderate
small brain
speech delay

Head And Neck Face:
sloping forehead
micrognathia
low hairline

Head And Neck Nose:
low columella


Clinical features from OMIM:

604321

Human phenotypes related to Microcephaly 4, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 microcephaly 32 HP:0000252
3 aggressive behavior 32 HP:0000718
4 impulsivity 32 HP:0100710
5 bimanual synkinesia 32 HP:0001335

Drugs & Therapeutics for Microcephaly 4, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 4, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 4, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 4, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 4 29 KNL1

Anatomical Context for Microcephaly 4, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 4, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 4, Primary, Autosomal Recessive

Variations for Microcephaly 4, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 4, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 KNL1 p.Met2041Ile VAR_069085 rs763915472

ClinVar genetic disease variations for Microcephaly 4, Primary, Autosomal Recessive:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 KNL1 KNL1, MET2041ILE single nucleotide variant Pathogenic
2 KNL1 NM_170589.4(KNL1): c.772delG (p.Asp258Metfs) deletion Likely pathogenic rs797045430 GRCh37 Chromosome 15, 40913156: 40913156
3 KNL1 NM_170589.4(KNL1): c.772delG (p.Asp258Metfs) deletion Likely pathogenic rs797045430 GRCh38 Chromosome 15, 40620958: 40620958
4 KNL1 NM_170589.4(KNL1): c.6560A> G (p.Asp2187Gly) single nucleotide variant Uncertain significance rs142872154 GRCh38 Chromosome 15, 40654975: 40654975
5 KNL1 NM_170589.4(KNL1): c.6560A> G (p.Asp2187Gly) single nucleotide variant Uncertain significance rs142872154 GRCh37 Chromosome 15, 40947173: 40947173
6 KNL1 NM_170589.4(KNL1): c.5262dupT (p.Ile1755Tyrfs) duplication Pathogenic rs863225127 GRCh37 Chromosome 15, 40917646: 40917646
7 KNL1 NM_170589.4(KNL1): c.5262dupT (p.Ile1755Tyrfs) duplication Pathogenic rs863225127 GRCh38 Chromosome 15, 40625448: 40625448
8 KNL1 NM_170589.4(KNL1): c.4823_4824delTTinsC (p.Leu1608Profs) indel Likely pathogenic GRCh37 Chromosome 15, 40917207: 40917208
9 KNL1 NM_170589.4(KNL1): c.4823_4824delTTinsC (p.Leu1608Profs) indel Likely pathogenic GRCh38 Chromosome 15, 40625009: 40625010
10 KNL1 NM_170589.4(KNL1): c.1599A> G (p.Gln533=) single nucleotide variant Likely pathogenic rs979186313 GRCh37 Chromosome 15, 40913983: 40913983
11 KNL1 NM_170589.4(KNL1): c.1599A> G (p.Gln533=) single nucleotide variant Likely pathogenic rs979186313 GRCh38 Chromosome 15, 40621785: 40621785
12 KNL1 NM_170589.4(KNL1): c.6427G> T (p.Asp2143Tyr) single nucleotide variant Likely pathogenic rs758157294 GRCh38 Chromosome 15, 40652039: 40652039
13 KNL1 NM_170589.4(KNL1): c.6427G> T (p.Asp2143Tyr) single nucleotide variant Likely pathogenic rs758157294 GRCh37 Chromosome 15, 40944237: 40944237

Expression for Microcephaly 4, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 4, Primary, Autosomal Recessive.

Pathways for Microcephaly 4, Primary, Autosomal Recessive

GO Terms for Microcephaly 4, Primary, Autosomal Recessive

Sources for Microcephaly 4, Primary, Autosomal Recessive

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