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MCPH14
MCID: MCR270
MIFTS: 31

Microcephaly 14, Primary, Autosomal Recessive (MCPH14)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Microcephaly 14, Primary, Autosomal Recessive

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

Name: Microcephaly 14, Primary, Autosomal Recessive 57 73
Primary Autosomal Recessive Microcephaly 14 12 29 6 15
Mcph14 57 12 73
Microcephaly, Type 14, Primary, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Microcephaly 14, Primary, Autosomal Recessive

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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 corneal dystrophy, meesmann, 1 and microcephaly 19, primary, autosomal recessive. An important gene associated with Microcephaly 14, Primary, Autosomal Recessive is SASS6 (SAS-6 Centriolar Assembly Protein). Affiliated tissues include 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
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Related Diseases for Microcephaly 14, Primary, Autosomal Recessive

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, meesmann, 1 10.0 SASS6 CEP152
2 microcephaly 19, primary, autosomal recessive 9.8 SHISA5 RTTN CEP152
3 seckel syndrome 2 9.8 CEP152 CENPJ
4 seckel syndrome 5 9.8 CEP152 CENPJ
5 seckel syndrome 4 9.8 CEP152 CENPJ
6 microcephaly 1, primary, autosomal recessive 9.8 CEP152 CENPJ
7 seckel syndrome 1 9.7 CEP152 CENPJ
8 microcephaly 16, primary, autosomal recessive 9.7 ZNF335 RTTN ANKLE2
9 autosomal recessive non-syndromic intellectual disability 9.6 WDR62 STIL CEP152
10 microcephalic osteodysplastic primordial dwarfism, type ii 9.6 STIL CEP152 CENPJ
11 band heterotopia 9.5 WDR62 CENPJ
12 microcephaly 11, primary, autosomal recessive 9.5 ZNF335 WDR62 CENPJ
13 joubert syndrome 1 9.4 STIL SASS6 CEP152 CENPJ
14 microcephaly 8, primary, autosomal recessive 9.4 WDR62 STIL CEP152 CENPJ
15 microcephaly 12, primary, autosomal recessive 9.4 WDR62 STIL CEP152 CENPJ
16 microcephaly 6, primary, autosomal recessive 9.4 WDR62 STIL CEP152 CENPJ
17 periventricular nodular heterotopia 9.4 WDR62 STIL RTTN CENPJ
18 physical disorder 9.4 WDR62 STIL CEP152 CENPJ
19 microcephaly 13, primary, autosomal recessive 9.3 ZNF335 WDR62 RTTN CEP152 ANKLE2
20 microcephaly 9, primary, autosomal recessive 9.3 WDR62 STIL SASS6 CEP152 CENPJ
21 microcephaly 7, primary, autosomal recessive 9.3 WDR62 STIL SASS6 CEP152 CENPJ
22 microcephaly 18, primary, autosomal dominant 9.3 ZNF335 CEP152 CENPJ ANKLE2
23 microcephaly 4, primary, autosomal recessive 9.1 ZNF335 WDR62 STIL CEP152 CENPJ
24 microcephaly 3, primary, autosomal recessive 9.1 WDR62 STIL SASS6 RTTN CEP152 CENPJ
25 isolated growth hormone deficiency, type ia 9.1 WDR62 STIL SASS6 RTTN CEP152 CENPJ
26 isolated growth hormone deficiency 9.1 WDR62 STIL SASS6 RTTN CEP152 CENPJ
27 primary microcephaly 9.1 WDR62 STIL SASS6 RTTN CEP152 CENPJ
28 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.1 ZNF335 STIL SHISA5 RTTN CEP152 ANKLE2
29 seckel syndrome 9.1 WDR62 STIL SASS6 RTTN CEP152 CENPJ
30 microcephaly 10, primary, autosomal recessive 9.1 ZNF335 WDR62 CEP152 CENPJ ANKLE2
31 microcephaly 5, primary, autosomal recessive 8.9 ZNF335 WDR62 STIL RTTN CEP152 CENPJ
32 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 8.9 ZNF335 WDR62 STIL RTTN CEP152 CENPJ
33 congenital nervous system abnormality 8.9 ZNF335 WDR62 STIL SASS6 CEP152 CENPJ
34 microcephaly 17, primary, autosomal recessive 8.8 ZNF335 WDR62 STIL CEP152 CENPJ ANKLE2
35 microcephaly 8.5 ZNF335 WDR62 STIL SASS6 RTTN CEP152
36 primary autosomal recessive microcephaly 8.5 ZNF335 WDR62 STIL SASS6 RTTN CEP152

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



Diseases related to Microcephaly 14, Primary, Autosomal Recessive
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Symptoms & Phenotypes for Microcephaly 14, Primary, Autosomal Recessive

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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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Microcephaly 14, Primary, Autosomal Recessive

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

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Genetic Tests for Microcephaly 14, Primary, Autosomal Recessive

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

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 14 29 SASS6
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Anatomical Context for Microcephaly 14, Primary, Autosomal Recessive

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

40
Cortex
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Publications for Microcephaly 14, Primary, Autosomal Recessive

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Articles related to Microcephaly 14, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly. 6 57
30639237 2019
2
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 6 57
24951542 2014
Sources

Variations for Microcephaly 14, Primary, Autosomal Recessive

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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
2 SASS6 NM_194292.3(SASS6):c.127-13A>G SNV Pathogenic 977771 1:100588858-100588858 1:100123302-100123302
3 SASS6 NM_194292.3(SASS6):c.1867+2T>A SNV Pathogenic 977772 1:100551090-100551090 1:100085534-100085534

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

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Expression for Microcephaly 14, Primary, Autosomal Recessive

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

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GO Terms for Microcephaly 14, Primary, Autosomal Recessive

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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 9.8 WDR62 STIL SASS6 RTTN CEP152 CENPJ
2 microtubule organizing center GO:0005815 9.55 WDR62 SASS6 RTTN CEP152 CENPJ
3 centrosome GO:0005813 9.43 WDR62 STIL SASS6 RTTN CEP152 CENPJ
4 deuterosome GO:0098536 9.26 SASS6 CEP152
5 centriole GO:0005814 9.1 WDR62 STIL SASS6 RTTN CEP152 CENPJ

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.4 CEP152 CENPJ
2 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.37 CEP152 CENPJ
3 determination of left/right symmetry GO:0007368 9.32 STIL RTTN
4 mitotic spindle organization GO:0007052 9.26 WDR62 STIL
5 regulation of centriole replication GO:0046599 9.16 STIL CENPJ
6 centrosome duplication GO:0051298 9.13 STIL SASS6 CEP152
7 centriole replication GO:0007099 9.02 WDR62 SASS6 RTTN CEP152 CENPJ
Sources

Sources for Microcephaly 14, Primary, Autosomal Recessive

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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