MCPH17
MCID: MCR320
MIFTS: 42

Microcephaly 17, Primary, Autosomal Recessive (MCPH17)

Categories: Eye diseases, 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 72 29 6
Mcph17 57 12 72
Primary Autosomal Recessive Microcephaly 17 12 15

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly 17, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


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) (Updated 20-May-2021)

MalaCards based summary : Microcephaly 17, Primary, Autosomal Recessive, also known as mcph17, is related to miller-dieker lissencephaly syndrome and seckel syndrome 5. An important gene associated with Microcephaly 17, Primary, Autosomal Recessive is CIT (Citron Rho-Interacting Serine/Threonine Kinase), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include eye, cortex and cerebellum, and related phenotypes are seizure and intellectual disability

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 : 72 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 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
Primary Autosomal Recessive Microcephaly Primary Microcephaly

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

(showing 37, show less)
# Related Disease Score Top Affiliating Genes
1 miller-dieker lissencephaly syndrome 9.8 WDR62 MCPH1 CDK5RAP2
2 seckel syndrome 5 9.8 MCPH1 CEP152 CENPJ
3 microcephaly 1, primary, autosomal recessive 9.7 MCPH1 CEP152 CENPJ ASPM
4 seckel syndrome 2 9.6 MCPH1 CEP152 CENPJ CDK5RAP2
5 seckel syndrome 1 9.6 MCPH1 CEP152 CENPJ CDK5RAP2
6 microcephaly 16, primary, autosomal recessive 9.6 ZNF335 MFSD2A ANKLE2
7 seckel syndrome 4 9.5 MCPH1 CEP152 CENPJ CDK5RAP2 ASPM
8 band heterotopia 9.5 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
9 microcephaly 11, primary, autosomal recessive 9.4 ZNF335 WDR62 MCPH1 CEP152 CENPJ
10 microcephaly 10, primary, autosomal recessive 9.3 ZNF335 WDR62 CEP152 CENPJ ANKLE2
11 joubert syndrome 1 9.3 STIL CEP152 CENPJ CDK5RAP2
12 alacrima, achalasia, and mental retardation syndrome 9.3 WDR62 MFSD2A ASPM ANKLE2
13 autosomal recessive non-syndromic intellectual disability 9.2 WDR62 STIL MCPH1 CEP152 CDK5RAP2
14 microcephaly 12, primary, autosomal recessive 9.1 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
15 microcephaly 9, primary, autosomal recessive 9.1 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
16 microcephaly 8, primary, autosomal recessive 9.1 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
17 microcephaly 13, primary, autosomal recessive 9.1 ZNF335 WDR62 MFSD2A MCPH1 CEP152 ANKLE2
18 isolated growth hormone deficiency 9.1 WDR62 STIL CEP152 CENPJ CDK5RAP2 ASPM
19 microcephalic osteodysplastic primordial dwarfism, type ii 9.1 STIL MCPH1 CEP152 CENPJ CDK5RAP2 ASPM
20 periventricular nodular heterotopia 9.0 WDR62 STIL MCPH1 CENPJ CDK5RAP2 ASPM
21 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.0 ZNF335 STIL MFSD2A CEP152 ANKLE2
22 disease of mental health 9.0 WDR62 MFSD2A MCPH1 CDK5RAP2 ASPM ANKLE2
23 microcephaly 14, primary, autosomal recessive 8.9 ZNF335 WDR62 STIL CEP152 CENPJ ANKLE2
24 microcephaly 7, primary, autosomal recessive 8.9 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
25 microcephaly 3, primary, autosomal recessive 8.9 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
26 isolated growth hormone deficiency, type ia 8.9 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
27 physical disorder 8.9 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
28 microcephaly 18, primary, autosomal dominant 8.8 ZNF335 MFSD2A MCPH1 CEP152 CENPJ ASPM
29 primary microcephaly 8.8 WDR62 STIL MCPH1 CIT CEP152 CENPJ
30 seckel syndrome 8.6 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
31 congenital nervous system abnormality 8.6 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
32 microcephaly 5, primary, autosomal recessive 8.6 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
33 microcephaly 6, primary, autosomal recessive 8.6 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
34 microcephaly 4, primary, autosomal recessive 8.6 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
35 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.6 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
36 microcephaly 7.9 ZNF335 WDR62 STIL MFSD2A MCPH1 CIT
37 primary autosomal recessive microcephaly 7.9 ZNF335 WDR62 STIL MFSD2A MCPH1 CIT

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

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

31 (showing 20, show less)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 agenesis of corpus callosum 31 HP:0001274
5 hyperreflexia 31 HP:0001347
6 failure to thrive 31 HP:0001508
7 global developmental delay 31 HP:0001263
8 hypertelorism 31 HP:0000316
9 macrotia 31 HP:0000400
10 thick vermilion border 31 HP:0012471
11 microcephaly 31 HP:0000252
12 short stature 31 HP:0004322
13 ventriculomegaly 31 HP:0002119
14 bulbous nose 31 HP:0000414
15 cerebellar hypoplasia 31 HP:0001321
16 sloping forehead 31 HP:0000340
17 renal agenesis 31 HP:0000104
18 hypoplasia of the brainstem 31 HP:0002365
19 simplified gyral pattern 31 HP:0009879
20 microlissencephaly 31 HP:0045028

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
cerebellar hypoplasia
simplified gyral pattern
more
Head And Neck Eyes:
hypertelorism

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)

Growth Other:
failure to thrive

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 (Updated 20-May-2021)

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

46 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ASPM CDK5RAP2 CENPJ CEP152 CIT MCPH1
2 growth/size/body region MP:0005378 9.86 ASPM CDK5RAP2 CENPJ CIT MCPH1 MFSD2A
3 nervous system MP:0003631 9.85 ASPM CDK5RAP2 CENPJ CEP152 CIT MCPH1
4 reproductive system MP:0005389 9.5 ASPM CDK5RAP2 CENPJ CIT MCPH1 MFSD2A
5 vision/eye MP:0005391 9.1 ANKLE2 CDK5RAP2 CENPJ MCPH1 MFSD2A 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:

40
Eye, Cortex, Cerebellum, Brain

Publications for Microcephaly 17, Primary, Autosomal Recessive

Articles related to Microcephaly 17, Primary, Autosomal Recessive:

(showing 6, show less)
# Title Authors PMID Year
1
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly. 57 6
27519304 2016
2
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. 6 57
27503289 2016
3
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. 57 6
27453579 2016
4
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. 6 57
27453578 2016
5
Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis. 57
11086988 2000
6
Inactivation of Citron Kinase Inhibits Medulloblastoma Progression by Inducing Apoptosis and Cell Senescence. 61
29921697 2018

Variations for Microcephaly 17, Primary, Autosomal Recessive

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

6 (showing 24, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CIT NM_001206999.2(CIT):c.317G>T (p.Gly106Val) SNV Pathogenic 254134 rs886037892 GRCh37: 12:120295424-120295424
GRCh38: 12:119857620-119857620
2 CIT NM_001206999.2(CIT):c.29_38del (p.Asn10fs) Deletion Pathogenic 221283 rs879253817 GRCh37: 12:120313935-120313944
GRCh38: 12:119876131-119876140
3 CIT NM_001206999.2(CIT):c.376A>C (p.Lys126Gln) SNV Pathogenic 254135 rs886037893 GRCh37: 12:120295365-120295365
GRCh38: 12:119857561-119857561
4 CIT NM_001206999.2(CIT):c.1111+1G>A SNV Pathogenic 252992 rs879255522 GRCh37: 12:120260623-120260623
GRCh38: 12:119822819-119822819
5 CIT NM_001206999.2(CIT):c.689A>T (p.Asp230Val) SNV Pathogenic 254136 rs886037894 GRCh37: 12:120270639-120270639
GRCh38: 12:119832835-119832835
6 CIT NM_001206999.2(CIT):c.753+3A>T SNV Pathogenic 254139 rs886037895 GRCh37: 12:120270572-120270572
GRCh38: 12:119832768-119832768
7 CIT NM_001206999.2(CIT):c.2448del (p.Arg817fs) Deletion Pathogenic 997620 GRCh37: 12:120196478-120196478
GRCh38: 12:119758674-119758674
8 CIT NM_001206999.2(CIT):c.2638G>T (p.Glu880Ter) SNV Pathogenic 1032703 GRCh37: 12:120195243-120195243
GRCh38: 12:119757439-119757439
9 CIT NM_001206999.2(CIT):c.4617del (p.Asp1541fs) Deletion Pathogenic 983220 GRCh37: 12:120150463-120150463
GRCh38: 12:119712658-119712658
10 CIT NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp) SNV Likely pathogenic 983219 GRCh37: 12:120295374-120295374
GRCh38: 12:119857570-119857570
11 CIT NM_001206999.2(CIT):c.644T>C (p.Met215Thr) SNV Uncertain significance 1032704 GRCh37: 12:120271905-120271905
GRCh38: 12:119834101-119834101
12 CIT NM_001206999.2(CIT):c.3157-5T>G SNV Uncertain significance 1030299 GRCh37: 12:120172167-120172167
GRCh38: 12:119734362-119734362
13 CIT NM_001206999.2(CIT):c.4691C>A (p.Pro1564Gln) SNV Uncertain significance 1030300 GRCh37: 12:120150146-120150146
GRCh38: 12:119712341-119712341
14 CIT NM_001206999.2(CIT):c.4897C>T (p.Arg1633Cys) SNV Uncertain significance 1030301 GRCh37: 12:120148383-120148383
GRCh38: 12:119710578-119710578
15 CIT NM_001206999.2(CIT):c.4898G>A (p.Arg1633His) SNV Uncertain significance 1030302 GRCh37: 12:120148382-120148382
GRCh38: 12:119710577-119710577
16 CIT NM_001206999.2(CIT):c.1031G>T (p.Gly344Val) SNV Uncertain significance 1032701 GRCh37: 12:120260704-120260704
GRCh38: 12:119822900-119822900
17 CIT NM_001206999.2(CIT):c.1049A>G (p.Lys350Arg) SNV Uncertain significance 1032702 GRCh37: 12:120260686-120260686
GRCh38: 12:119822882-119822882
18 CIT NM_001206999.2(CIT):c.4130C>T (p.Pro1377Leu) SNV Uncertain significance 560261 rs779515686 GRCh37: 12:120156088-120156088
GRCh38: 12:119718283-119718283
19 CIT NM_001206999.2(CIT):c.3350+5G>A SNV Uncertain significance 592098 rs1565958864 GRCh37: 12:120171964-120171964
GRCh38: 12:119734159-119734159
20 CIT NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) SNV Uncertain significance 592099 rs180716474 GRCh37: 12:120139663-120139663
GRCh38: 12:119701858-119701858
21 CIT NM_001206999.2(CIT):c.652G>A (p.Val218Met) SNV Uncertain significance 636239 rs777293258 GRCh37: 12:120271897-120271897
GRCh38: 12:119834093-119834093
22 CIT NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser) SNV Uncertain significance 636240 rs145731510 GRCh37: 12:120166407-120166407
GRCh38: 12:119728602-119728602
23 CIT NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) SNV Uncertain significance 800758 rs1593442207 GRCh37: 12:120151406-120151406
GRCh38: 12:119713601-119713601
24 CIT NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro) SNV Uncertain significance 816848 rs1593597170 GRCh37: 12:120189982-120189982
GRCh38: 12:119752177-119752177

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

72 (showing 3, show less)
# 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

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

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

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 MCPH1 CEP152 CENPJ CDK5RAP2 ANKLE2

GO Terms for Microcephaly 17, Primary, Autosomal Recessive

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

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.65 WDR62 MCPH1 CEP152 CENPJ CDK5RAP2
2 microtubule GO:0005874 9.61 CENPJ CDK5RAP2 ASPM
3 spindle pole GO:0000922 9.5 WDR62 CDK5RAP2 ASPM
4 centriole GO:0005814 9.46 WDR62 STIL CEP152 CENPJ
5 centrosome GO:0005813 9.43 WDR62 STIL CEP152 CENPJ CDK5RAP2 ASPM
6 mitotic spindle pole GO:0097431 9.4 CDK5RAP2 ASPM
7 pericentriolar material GO:0000242 9.37 CEP152 CDK5RAP2
8 cytoskeleton GO:0005856 9.23 WDR62 STIL MCPH1 CIT CEP152 CENPJ

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

(showing 16, show less)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.71 CIT CENPJ ASPM ANKLE2
2 G2/M transition of mitotic cell cycle GO:0000086 9.63 CEP152 CENPJ CDK5RAP2
3 negative regulation of neuron differentiation GO:0045665 9.56 CDK5RAP2 ASPM
4 neurogenesis GO:0022008 9.55 WDR62 CDK5RAP2
5 mitotic spindle organization GO:0007052 9.54 WDR62 STIL
6 establishment of mitotic spindle orientation GO:0000132 9.52 MCPH1 CDK5RAP2
7 positive regulation of neuroblast proliferation GO:0002052 9.51 ZNF335 ASPM
8 ciliary basal body-plasma membrane docking GO:0097711 9.5 CEP152 CENPJ CDK5RAP2
9 protein localization to centrosome GO:0071539 9.49 STIL MCPH1
10 neuronal stem cell population maintenance GO:0097150 9.48 MCPH1 ASPM
11 centrosome duplication GO:0051298 9.43 STIL CEP152
12 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.43 CEP152 CENPJ CDK5RAP2
13 regulation of centriole replication GO:0046599 9.37 STIL CENPJ
14 cerebral cortex development GO:0021987 9.33 WDR62 MCPH1 ASPM
15 brain development GO:0007420 9.26 ZNF335 MFSD2A CDK5RAP2 ASPM
16 centriole replication GO:0007099 8.92 WDR62 CEP152 CENPJ CDK5RAP2

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

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 9.16 CENPJ CDK5RAP2
2 gamma-tubulin binding GO:0043015 8.96 CENPJ CDK5RAP2
3 protein kinase binding GO:0019901 8.92 CIT CEP152 CENPJ CDK5RAP2

Sources for Microcephaly 17, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....