MCID: MCR320
MIFTS: 22

Microcephaly 17, Primary, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental 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 75

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, is also known as mcph17. An important gene associated with Microcephaly 17, Primary, Autosomal Recessive is CIT (Citron Rho-Interacting Serine/Threonine Kinase). Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are renal agenesis and microcephaly

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.

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

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 12)
# 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

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

Sources for Microcephaly 17, Primary, Autosomal Recessive

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7 CNVD
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10 dbSNP
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17 ExPASy
19 FMA
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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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