MCPH17
MCID: MCR320
MIFTS: 42

Microcephaly 17, Primary, Autosomal Recessive (MCPH17)

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

Aliases & Classifications for Microcephaly 17, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 17, Primary, Autosomal Recessive:

Name: Microcephaly 17, Primary, Autosomal Recessive 57 75 29 6
Mcph17 57 12 75
Primary Autosomal Recessive Microcephaly 17 12 15

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in utero
some patients may die in infancy or early childhood


HPO:

32
microcephaly 17, primary, autosomal recessive:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 17, Primary, Autosomal Recessive

OMIM : 57 Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (617090)

MalaCards based summary : Microcephaly 17, Primary, Autosomal Recessive, also known as mcph17, is related to seckel syndrome 5 and microcephalic osteodysplastic primordial dwarfism, type ii. An important gene associated with Microcephaly 17, Primary, Autosomal Recessive is CIT (Citron Rho-Interacting Serine/Threonine Kinase), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are hypertelorism and agenesis of corpus callosum

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.

UniProtKB/Swiss-Prot : 75 Microcephaly 17, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH17 is a severe form characterized by lissencephaly, enlarged ventricles, agenesis of the corpus callosum, cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features.

Related Diseases for Microcephaly 17, 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 Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 17, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 5 10.0 CENPJ CEP152
2 microcephalic osteodysplastic primordial dwarfism, type ii 10.0 CDK5RAP2 CENPJ
3 seckel syndrome 1 10.0 CENPJ CEP152
4 seckel syndrome 2 10.0 CENPJ CEP152
5 microcephaly 13, primary, autosomal recessive 9.9 MCPH1 WDR62
6 meier-gorlin syndrome 1 9.8 CEP152 CEP63
7 seckel syndrome 9.5 CENPJ CEP152 CEP63 MCPH1
8 physical disorder 9.4 CDK5RAP2 CENPJ CEP63 MCPH1 WDR62
9 microcephaly 6, primary, autosomal recessive 9.2 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
10 microcephaly 4, primary, autosomal recessive 9.2 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
11 primary autosomal recessive microcephaly 9.2 CDK5RAP2 CENPJ CEP152 CIT MCPH1 STIL
12 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
13 microcephaly 5, primary, autosomal recessive 9.1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
14 microcephaly 7, primary, autosomal recessive 9.1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
15 microcephaly 12, primary, autosomal recessive 9.1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
16 microcephaly 3, primary, autosomal recessive 9.1 CDK5 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
17 microcephaly 18, primary, autosomal dominant 9.1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
18 congenital nervous system abnormality 9.1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
19 microcephaly 8.9 CDK5RAP2 CENPJ CEP152 CEP63 CIT MCPH1
20 primary microcephaly 8.9 CDK5RAP2 CENPJ CEP152 CEP63 CIT MCPH1

Graphical network of the top 20 diseases related to Microcephaly 17, Primary, Autosomal Recessive:



Diseases related to Microcephaly 17, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 17, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Growth Other:
failure to thrive

Head And Neck Nose:
bulbous nose

Head And Neck Mouth:
thick lips

Head And Neck Head:
microcephaly (up to -11 sd)

Genitourinary Kidneys:
renal aplasia (2 families)

Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
cerebellar hypoplasia
enlarged ventricles
more
Growth Height:
short stature

Head And Neck Face:
sloping forehead

Head And Neck Ears:
large ears

Muscle Soft Tissue:
hypotonia, axial


Clinical features from OMIM:

617090

Human phenotypes related to Microcephaly 17, Primary, Autosomal Recessive:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 HP:0001274
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 spasticity 32 HP:0001257
6 hyperreflexia 32 HP:0001347
7 failure to thrive 32 HP:0001508
8 macrotia 32 HP:0000400
9 global developmental delay 32 HP:0001263
10 thick vermilion border 32 HP:0012471
11 microcephaly 32 HP:0000252
12 short stature 32 HP:0004322
13 ventriculomegaly 32 HP:0002119
14 cerebellar hypoplasia 32 HP:0001321
15 bulbous nose 32 HP:0000414
16 sloping forehead 32 HP:0000340
17 renal agenesis 32 HP:0000104
18 cortical gyral simplification 32 HP:0009879
19 hypoplasia of the brainstem 32 HP:0002365

GenomeRNAi Phenotypes related to Microcephaly 17, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 8.96 CDK5 PNKP
2 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 8.62 CDK5 CIT

MGI Mouse Phenotypes related to Microcephaly 17, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 CDK5RAP2 CENPJ CEP152 CEP63 CIT MCPH1
2 growth/size/body region MP:0005378 9.76 CDK5RAP2 CENPJ CEP63 CIT MCPH1 PNKP
3 nervous system MP:0003631 9.65 CDK5 CDK5RAP2 CENPJ CEP152 CEP63 CIT
4 reproductive system MP:0005389 9.1 CDK5RAP2 CENPJ CEP63 CIT MCPH1 WDR62

Drugs & Therapeutics for Microcephaly 17, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 17, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 17, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 17, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Microcephaly 17, Primary, Autosomal Recessive 29 CIT

Anatomical Context for Microcephaly 17, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 17, Primary, Autosomal Recessive:

41
Brain, Cerebellum, Cortex

Publications for Microcephaly 17, Primary, Autosomal Recessive

Variations for Microcephaly 17, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 17, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 CIT p.Gly106Val VAR_077442 rs886037892
2 CIT p.Lys126Gln VAR_077443 rs886037893
3 CIT p.Asp230Val VAR_077444 rs886037894

ClinVar genetic disease variations for Microcephaly 17, Primary, Autosomal Recessive:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CIT NM_007174.2(CIT): c.29_38delATCCTTTGGA (p.Asn10Metfs) deletion Pathogenic rs879253817 GRCh38 Chromosome 12, 119876131: 119876140
2 CIT NM_007174.2(CIT): c.29_38delATCCTTTGGA (p.Asn10Metfs) deletion Pathogenic rs879253817 GRCh37 Chromosome 12, 120313935: 120313944
3 CIT NM_007174.2(CIT): c.1111+1G> A single nucleotide variant Pathogenic rs879255522 GRCh37 Chromosome 12, 120260623: 120260623
4 CIT NM_007174.2(CIT): c.1111+1G> A single nucleotide variant Pathogenic rs879255522 GRCh38 Chromosome 12, 119822819: 119822819
5 CIT NM_001206999.1(CIT): c.317G> T (p.Gly106Val) single nucleotide variant Pathogenic rs886037892 GRCh37 Chromosome 12, 120295424: 120295424
6 CIT NM_001206999.1(CIT): c.317G> T (p.Gly106Val) single nucleotide variant Pathogenic rs886037892 GRCh38 Chromosome 12, 119857620: 119857620
7 CIT NG_029792.1: g.24731A> C single nucleotide variant Pathogenic rs886037893 GRCh37 Chromosome 12, 120295365: 120295365
8 CIT NG_029792.1: g.24731A> C single nucleotide variant Pathogenic rs886037893 GRCh38 Chromosome 12, 119857561: 119857561
9 CIT NM_001206999.1(CIT): c.689A> T (p.Asp230Val) single nucleotide variant Pathogenic rs886037894 GRCh37 Chromosome 12, 120270639: 120270639
10 CIT NM_001206999.1(CIT): c.689A> T (p.Asp230Val) single nucleotide variant Pathogenic rs886037894 GRCh38 Chromosome 12, 119832835: 119832835
11 CIT NM_001206999.1(CIT): c.753+3A> T single nucleotide variant Pathogenic rs886037895 GRCh37 Chromosome 12, 120270572: 120270572
12 CIT NM_001206999.1(CIT): c.753+3A> T single nucleotide variant Pathogenic rs886037895 GRCh38 Chromosome 12, 119832768: 119832768
13 CIT NM_001206999.1(CIT): c.4130C> T (p.Pro1377Leu) single nucleotide variant Uncertain significance rs779515686 GRCh38 Chromosome 12, 119718283: 119718283
14 CIT NM_001206999.1(CIT): c.4130C> T (p.Pro1377Leu) single nucleotide variant Uncertain significance rs779515686 GRCh37 Chromosome 12, 120156088: 120156088

Expression for Microcephaly 17, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 17, Primary, Autosomal Recessive.

Pathways for Microcephaly 17, Primary, Autosomal Recessive

GO Terms for Microcephaly 17, Primary, Autosomal Recessive

Cellular components related to Microcephaly 17, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.73 CDK5RAP2 CENPJ CEP152 CEP63 STIL WDR62
2 microtubule GO:0005874 9.63 CDK5 CDK5RAP2 CENPJ
3 microtubule organizing center GO:0005815 9.63 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 WDR62
4 cytoskeleton GO:0005856 9.56 CDK5 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
5 spindle pole GO:0000922 9.5 CDK5RAP2 CEP63 WDR62
6 pericentriolar material GO:0000242 9.37 CDK5RAP2 CEP152
7 centriole GO:0005814 9.02 CENPJ CEP152 CEP63 STIL WDR62
8 cytoplasm GO:0005737 10.06 CDK5 CDK5RAP2 CENPJ CEP152 CEP63 CIT
9 cytosol GO:0005829 10.03 CDK5 CDK5RAP2 CENPJ CEP152 CEP63 CIT

Biological processes related to Microcephaly 17, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.76 CDK5 CENPJ CEP63 CIT
2 ciliary basal body-plasma membrane docking GO:0097711 9.62 CDK5RAP2 CENPJ CEP152 CEP63
3 cerebral cortex development GO:0021987 9.61 CDK5 MCPH1 WDR62
4 forebrain development GO:0030900 9.56 CDK5 STIL
5 smoothened signaling pathway GO:0007224 9.55 CENPJ STIL
6 neurogenesis GO:0022008 9.54 CDK5RAP2 WDR62
7 mitotic spindle organization GO:0007052 9.52 STIL WDR62
8 neuron apoptotic process GO:0051402 9.51 CDK5 CIT
9 establishment of mitotic spindle orientation GO:0000132 9.49 CDK5RAP2 MCPH1
10 protein localization to centrosome GO:0071539 9.48 MCPH1 STIL
11 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.46 CDK5RAP2 CENPJ CEP152 CEP63
12 centrosome duplication GO:0051298 9.43 CENPJ CEP152 STIL
13 regulation of centriole replication GO:0046599 9.4 CENPJ STIL
14 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.37 CEP152 CEP63
15 G2/M transition of mitotic cell cycle GO:0000086 9.35 CDK5RAP2 CENPJ CEP152 CEP63 CIT
16 centriole replication GO:0007099 9.02 CDK5RAP2 CENPJ CEP152 CEP63 WDR62

Molecular functions related to Microcephaly 17, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.65 CDK5 CDK5RAP2 CENPJ CEP152 CEP63 CIT
2 tubulin binding GO:0015631 9.16 CDK5RAP2 CENPJ
3 protein kinase binding GO:0019901 8.92 CDK5 CDK5RAP2 CENPJ CEP152

Sources for Microcephaly 17, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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