MCID: MCR270
MIFTS: 20

Microcephaly 14, Primary, Autosomal Recessive

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

Aliases & Classifications for Microcephaly 14, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 14, Primary, Autosomal Recessive:

Name: Microcephaly 14, Primary, Autosomal Recessive 57 75
Primary Autosomal Recessive Microcephaly 14 29 6
Mcph14 57 75
Microcephaly, Type 14, Primary, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani family has been reported (last curated june 2015)


HPO:

32
microcephaly 14, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 14, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 14, 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.

MalaCards based summary : Microcephaly 14, Primary, Autosomal Recessive, is also known as primary autosomal recessive microcephaly 14. An important gene associated with Microcephaly 14, Primary, Autosomal Recessive is SASS6 (SAS-6 Centriolar Assembly Protein). Affiliated tissues include cortex and brain, and related phenotypes are microcephaly and aggressive behavior

Description from OMIM: 616402

Symptoms & Phenotypes for Microcephaly 14, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly, primary (up to -19.6 sd)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Neurologic Central Nervous System:
delayed psychomotor development, severe
mental retardation
poor speech
seizures (in some patients)
cerebellar hypoplasia (1 patient)


Clinical features from OMIM:

616402

Human phenotypes related to Microcephaly 14, Primary, Autosomal Recessive:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 aggressive behavior 32 HP:0000718
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 global developmental delay 32 HP:0001263
6 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
7 poor speech 32 HP:0002465

Drugs & Therapeutics for Microcephaly 14, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 14, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 14, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 14, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 14 29 SASS6

Anatomical Context for Microcephaly 14, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 14, Primary, Autosomal Recessive:

41
Cortex, Brain

Publications for Microcephaly 14, Primary, Autosomal Recessive

Variations for Microcephaly 14, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 14, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 SASS6 p.Ile62Thr VAR_073833 rs876661307

ClinVar genetic disease variations for Microcephaly 14, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SASS6 NM_194292.2(SASS6): c.185T> C (p.Ile62Thr) single nucleotide variant Pathogenic rs876661307 GRCh37 Chromosome 1, 100588787: 100588787
2 SASS6 NM_194292.2(SASS6): c.185T> C (p.Ile62Thr) single nucleotide variant Pathogenic rs876661307 GRCh38 Chromosome 1, 100123231: 100123231

Expression for Microcephaly 14, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 14, Primary, Autosomal Recessive.

Pathways for Microcephaly 14, Primary, Autosomal Recessive

GO Terms for Microcephaly 14, Primary, Autosomal Recessive

Sources for Microcephaly 14, 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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