MCID: MCR238
MIFTS: 19

Microcephaly 7, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 7, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 7, Primary, Autosomal Recessive:

Name: Microcephaly 7, Primary, Autosomal Recessive 57 75 13
Primary Autosomal Recessive Microcephaly 7 29 6
Mcph7 57 75
Microcephaly, Primary Autosomal Recessive, 7 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
microcephaly 7, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 612703
MedGen 42 C2675187
MeSH 44 D008831
UMLS 73 C2675187

Summaries for Microcephaly 7, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 7, 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 7, Primary, Autosomal Recessive, is also known as primary autosomal recessive microcephaly 7. An important gene associated with Microcephaly 7, Primary, Autosomal Recessive is STIL (STIL, Centriolar Assembly Protein). Affiliated tissues include brain and cortex, and related phenotypes are microcephaly and sloping forehead

Description from OMIM: 612703

Symptoms & Phenotypes for Microcephaly 7, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly, primary (up to -10 sd)
sloping forehead

Neurologic Central Nervous System:
intellectual disability, mild to severe
lobar holoposencephaly on brain imaging (1 family)
simplified gyral pattern (1 family)

Head And Neck Face:
prominent midface


Clinical features from OMIM:

612703

Human phenotypes related to Microcephaly 7, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 sloping forehead 32 HP:0000340
3 intellectual disability 32 HP:0001249
4 cortical gyral simplification 32 occasional (7.5%) HP:0009879

Drugs & Therapeutics for Microcephaly 7, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 7, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 7, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 7, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 7 29 STIL

Anatomical Context for Microcephaly 7, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 7, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 7, Primary, Autosomal Recessive

Variations for Microcephaly 7, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 7, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 STIL p.Leu798Trp VAR_072404 rs398122976

ClinVar genetic disease variations for Microcephaly 7, Primary, Autosomal Recessive:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 STIL NM_003035.2(STIL): c.3715C> T (p.Gln1239Ter) single nucleotide variant Pathogenic rs121918609 GRCh37 Chromosome 1, 47716957: 47716957
2 STIL NM_003035.2(STIL): c.3715C> T (p.Gln1239Ter) single nucleotide variant Pathogenic rs121918609 GRCh38 Chromosome 1, 47251285: 47251285
3 STIL NM_003035.2(STIL): c.3655delG (p.Val1219Terfs) deletion Pathogenic rs199422207 GRCh37 Chromosome 1, 47717017: 47717017
4 STIL NM_003035.2(STIL): c.3655delG (p.Val1219Terfs) deletion Pathogenic rs199422207 GRCh38 Chromosome 1, 47251345: 47251345
5 STIL NM_003035.2(STIL): c.2826+1G> A single nucleotide variant Pathogenic rs199422206 GRCh37 Chromosome 1, 47728574: 47728574
6 STIL NM_003035.2(STIL): c.2826+1G> A single nucleotide variant Pathogenic rs199422206 GRCh38 Chromosome 1, 47262902: 47262902
7 STIL NM_001048166.1(STIL): c.2393T> G (p.Leu798Trp) single nucleotide variant Pathogenic rs398122976 GRCh37 Chromosome 1, 47735529: 47735529
8 STIL NM_001048166.1(STIL): c.2393T> G (p.Leu798Trp) single nucleotide variant Pathogenic rs398122976 GRCh38 Chromosome 1, 47269857: 47269857
9 STIL NM_003035.2(STIL): c.3426C> T (p.Pro1142=) single nucleotide variant Uncertain significance rs144628824 GRCh37 Chromosome 1, 47717246: 47717246
10 STIL NM_003035.2(STIL): c.3426C> T (p.Pro1142=) single nucleotide variant Uncertain significance rs144628824 GRCh38 Chromosome 1, 47251574: 47251574
11 STIL NM_003035.2(STIL): c.3154G> A (p.Gly1052Ser) single nucleotide variant Uncertain significance rs201354921 GRCh37 Chromosome 1, 47717518: 47717518
12 STIL NM_003035.2(STIL): c.3154G> A (p.Gly1052Ser) single nucleotide variant Uncertain significance rs201354921 GRCh38 Chromosome 1, 47251846: 47251846
13 STIL NM_003035.2(STIL): c.3064G> T (p.Val1022Leu) single nucleotide variant Uncertain significance rs144586803 GRCh37 Chromosome 1, 47725974: 47725974
14 STIL NM_003035.2(STIL): c.3064G> T (p.Val1022Leu) single nucleotide variant Uncertain significance rs144586803 GRCh38 Chromosome 1, 47260302: 47260302
15 STIL NM_003035.2(STIL): c.2948C> T (p.Thr983Ile) single nucleotide variant Uncertain significance rs587784450 GRCh37 Chromosome 1, 47726090: 47726090
16 STIL NM_003035.2(STIL): c.2948C> T (p.Thr983Ile) single nucleotide variant Uncertain significance rs587784450 GRCh38 Chromosome 1, 47260418: 47260418
17 STIL NM_003035.2(STIL): c.2852G> A (p.Ser951Asn) single nucleotide variant Uncertain significance rs35447382 GRCh37 Chromosome 1, 47726186: 47726186
18 STIL NM_003035.2(STIL): c.2852G> A (p.Ser951Asn) single nucleotide variant Uncertain significance rs35447382 GRCh38 Chromosome 1, 47260514: 47260514
19 STIL NM_003035.2(STIL): c.2542G> A (p.Val848Ile) single nucleotide variant Uncertain significance rs587784449 GRCh37 Chromosome 1, 47735380: 47735380
20 STIL NM_003035.2(STIL): c.2542G> A (p.Val848Ile) single nucleotide variant Uncertain significance rs587784449 GRCh38 Chromosome 1, 47269708: 47269708
21 STIL NM_001048166.1(STIL): c.2021_2023delGTT (p.Cys674del) deletion Uncertain significance rs587784448 GRCh37 Chromosome 1, 47746107: 47746109
22 STIL NM_001048166.1(STIL): c.2021_2023delGTT (p.Cys674del) deletion Uncertain significance rs587784448 GRCh38 Chromosome 1, 47280435: 47280437
23 STIL NM_003035.2(STIL): c.1137T> C (p.Ser379=) single nucleotide variant Uncertain significance rs587784447 GRCh37 Chromosome 1, 47748128: 47748128
24 STIL NM_003035.2(STIL): c.1137T> C (p.Ser379=) single nucleotide variant Uncertain significance rs587784447 GRCh38 Chromosome 1, 47282456: 47282456
25 STIL NM_003035.2(STIL): c.1136C> T (p.Ser379Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149185431 GRCh37 Chromosome 1, 47748129: 47748129
26 STIL NM_003035.2(STIL): c.1136C> T (p.Ser379Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149185431 GRCh38 Chromosome 1, 47282457: 47282457
27 STIL NM_003035.2(STIL): c.895T> A (p.Phe299Ile) single nucleotide variant Likely pathogenic rs587784452 GRCh37 Chromosome 1, 47755235: 47755235
28 STIL NM_003035.2(STIL): c.895T> A (p.Phe299Ile) single nucleotide variant Likely pathogenic rs587784452 GRCh38 Chromosome 1, 47289563: 47289563
29 STIL NM_003035.2(STIL): c.467A> G (p.His156Arg) single nucleotide variant Uncertain significance rs141352790 GRCh37 Chromosome 1, 47765811: 47765811
30 STIL NM_003035.2(STIL): c.467A> G (p.His156Arg) single nucleotide variant Uncertain significance rs141352790 GRCh38 Chromosome 1, 47300139: 47300139
31 STIL NM_003035.2(STIL): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs147160336 GRCh37 Chromosome 1, 47767944: 47767944
32 STIL NM_003035.2(STIL): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs147160336 GRCh38 Chromosome 1, 47302272: 47302272
33 STIL NM_003035.2(STIL): c.36G> A (p.Met12Ile) single nucleotide variant Uncertain significance rs587784451 GRCh37 Chromosome 1, 47775956: 47775956
34 STIL NM_003035.2(STIL): c.36G> A (p.Met12Ile) single nucleotide variant Uncertain significance rs587784451 GRCh38 Chromosome 1, 47310284: 47310284
35 STIL NM_003035.2(STIL): c.26G> A (p.Arg9Gln) single nucleotide variant Uncertain significance rs369825711 GRCh37 Chromosome 1, 47775966: 47775966
36 STIL NM_003035.2(STIL): c.26G> A (p.Arg9Gln) single nucleotide variant Uncertain significance rs369825711 GRCh38 Chromosome 1, 47310294: 47310294
37 STIL NM_003035.2(STIL): c.266_453del single nucleotide variant Pathogenic rs863225464 GRCh38 Chromosome 1, 47301556: 47301556
38 STIL NM_003035.2(STIL): c.266_453del single nucleotide variant Pathogenic rs863225464 GRCh37 Chromosome 1, 47767228: 47767228

Expression for Microcephaly 7, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 7, Primary, Autosomal Recessive.

Pathways for Microcephaly 7, Primary, Autosomal Recessive

GO Terms for Microcephaly 7, Primary, Autosomal Recessive

Sources for Microcephaly 7, Primary, Autosomal Recessive

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