MCPH14
MCID: MCR270
MIFTS: 30

Microcephaly 14, Primary, Autosomal Recessive (MCPH14)

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

Aliases & Classifications for Microcephaly 14, Primary, Autosomal Recessive

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

Name: Microcephaly 14, Primary, Autosomal Recessive 56 73
Primary Autosomal Recessive Microcephaly 14 12 29 6 15
Mcph14 56 12 73
Microcephaly, Type 14, Primary, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly 14, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 14, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 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, also known as primary autosomal recessive microcephaly 14, is related to phosphoglycerate dehydrogenase deficiency and seckel syndrome 5. An important gene associated with Microcephaly 14, Primary, Autosomal Recessive is SASS6 (SAS-6 Centriolar Assembly Protein). Affiliated tissues include brain and cortex, and related phenotypes are cerebellar hypoplasia and seizure

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.

More information from OMIM: 616402 PS251200

Related Diseases for Microcephaly 14, 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 Microcephaly 24, Primary, Autosomal Recessive
Microcephaly 25, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 14, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 phosphoglycerate dehydrogenase deficiency 10.0 ZNF335 ANKLE2
2 seckel syndrome 5 9.9 MCPH1 CEP152
3 seckel syndrome 4 9.8 MCPH1 CEP152
4 microcephaly 1, primary, autosomal recessive 9.8 MCPH1 CEP152
5 microcephaly 19, primary, autosomal recessive 9.8 SHISA5 RTTN CEP152
6 microcephalic osteodysplastic primordial dwarfism, type ii 9.7 MCPH1 CEP152
7 seckel syndrome 8 9.7 PGAP2 CEP152
8 microcephaly 8, primary, autosomal recessive 9.7 WDR62 MCPH1 CEP152
9 microcephaly 6, primary, autosomal recessive 9.7 WDR62 MCPH1 CEP152
10 miller-dieker lissencephaly syndrome 9.7 WDR62 MCPH1
11 periventricular nodular heterotopia 9.7 WDR62 RTTN MCPH1
12 physical disorder 9.6 WDR62 MCPH1 CEP152
13 band heterotopia 9.5 WDR62 MCPH1
14 microcephaly 9, primary, autosomal recessive 9.4 ZNF335 WDR62 MCPH1 CEP152
15 microcephaly 11, primary, autosomal recessive 9.4 ZNF335 WDR62 MCPH1 CEP152
16 microcephaly 4, primary, autosomal recessive 9.4 ZNF335 WDR62 MCPH1 CEP152
17 microcephaly 10, primary, autosomal recessive 9.3 ZNF335 WDR62 RTTN CEP152 ANKLE2
18 microcephaly 7, primary, autosomal recessive 9.3 WDR62 SASS6 RTTN MCPH1 CEP152
19 seckel syndrome 9.2 WDR62 SASS6 RTTN MCPH1 CEP152
20 microcephaly 12, primary, autosomal recessive 9.2 ZNF335 WDR62 RTTN MCPH1 CEP152
21 microcephaly 3, primary, autosomal recessive 9.2 ZNF335 WDR62 RTTN MCPH1 CEP152
22 microcephaly 5, primary, autosomal recessive 9.2 ZNF335 WDR62 RTTN MCPH1 CEP152
23 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.2 ZNF335 WDR62 RTTN MCPH1 CEP152
24 congenital nervous system abnormality 9.2 ZNF335 WDR62 SASS6 MCPH1 CEP152
25 microcephaly 17, primary, autosomal recessive 9.1 ZNF335 WDR62 MCPH1 CEP152 ANKLE2
26 autosomal recessive non-syndromic intellectual disability 9.0 WDR62 PGAP2 MCPH1 CEP152
27 microcephaly 18, primary, autosomal dominant 9.0 ZNF335 SHISA5 MCPH1 CEP152 ANKLE2
28 isolated growth hormone deficiency, type ia 8.9 ZNF335 WDR62 SASS6 RTTN MCPH1 CEP152
29 microcephaly 13, primary, autosomal recessive 8.9 ZNF335 WDR62 RTTN MCPH1 CEP152 ANKLE2
30 microcephaly 16, primary, autosomal recessive 8.9 ZNF335 RTTN PGAP2 ITGB3BP ANKLE2
31 microcephaly 8.7 ZNF335 WDR62 SASS6 RTTN MCPH1 CEP152
32 primary microcephaly 8.6 ZNF335 WDR62 SASS6 RTTN MCPH1 CEP152
33 microcephaly 15, primary, autosomal recessive 8.2 ZNF335 SHISA5 RTTN PGAP2 ITGB3BP CEP152
34 primary autosomal recessive microcephaly 8.0 ZNF335 WDR62 SASS6 RTTN PGAP2 MCPH1

Graphical network of the top 20 diseases related to Microcephaly 14, Primary, Autosomal Recessive:



Diseases related to Microcephaly 14, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 14, Primary, Autosomal Recessive

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
2 seizure 31 occasional (7.5%) HP:0001250
3 intellectual disability 31 HP:0001249
4 global developmental delay 31 HP:0001263
5 microcephaly 31 HP:0000252
6 aggressive behavior 31 HP:0000718
7 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

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

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

Clinical features from OMIM:

616402

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:

40
Brain, Cortex

Publications for Microcephaly 14, Primary, Autosomal Recessive

Articles related to Microcephaly 14, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 56 6
24951542 2014
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301772 2009

Variations for Microcephaly 14, Primary, Autosomal Recessive

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SASS6 NM_194292.3(SASS6):c.185T>C (p.Ile62Thr)SNV Pathogenic 192231 rs876661307 1:100588787-100588787 1:100123231-100123231

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

73
# Symbol AA change Variation ID SNP ID
1 SASS6 p.Ile62Thr VAR_073833 rs876661307

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

Cellular components related to Microcephaly 14, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.72 WDR62 SASS6 RTTN MCPH1 CEP152
2 centrosome GO:0005813 9.56 WDR62 SASS6 RTTN CEP152
3 microtubule organizing center GO:0005815 9.35 WDR62 SASS6 RTTN MCPH1 CEP152
4 deuterosome GO:0098536 9.16 SASS6 CEP152
5 centriole GO:0005814 8.92 WDR62 SASS6 RTTN CEP152

Biological processes related to Microcephaly 14, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.16 WDR62 MCPH1
2 centrosome duplication GO:0051298 8.96 SASS6 CEP152
3 centriole replication GO:0007099 8.92 WDR62 SASS6 RTTN CEP152

Sources for Microcephaly 14, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....