CRS5
MCID: CRN216
MIFTS: 21

Craniosynostosis 5 (CRS5)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Craniosynostosis 5

MalaCards integrated aliases for Craniosynostosis 5:

Name: Craniosynostosis 5 57 74
Craniosynostosis 5, Susceptibility to 57 29 6
Crs5 57 74
Craniosynostosis, Type 5, Susceptibility to 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
craniosynostosis 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D003398

Summaries for Craniosynostosis 5

OMIM : 57 Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by Yagnik et al., 2012). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). (615529)

MalaCards based summary : Craniosynostosis 5, also known as craniosynostosis 5, susceptibility to, is related to candida glabrata. An important gene associated with Craniosynostosis 5 is ALX4 (ALX Homeobox 4). Affiliated tissues include brain, and related phenotype is craniosynostosis.

UniProtKB/Swiss-Prot : 74 Craniosynostosis 5: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.

Related Diseases for Craniosynostosis 5

Diseases in the Craniosynostosis family:

Craniosynostosis 1 Craniosynostosis 4
Craniosynostosis 2 Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis 3 Craniosynostosis 5
Craniosynostosis 6 Craniosynostosis 7
Craniosynostosis Autosomal Dominant

Diseases related to Craniosynostosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 candida glabrata 10.3

Symptoms & Phenotypes for Craniosynostosis 5

Human phenotypes related to Craniosynostosis 5:

32
# Description HPO Frequency HPO Source Accession
1 craniosynostosis 32 HP:0001363

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
craniosynostosis

Skeletal Skull:
craniosynostosis
sagittal suture fusion
metopic suture fusion (in some patients)
squamous suture fusion (in some patients)

Clinical features from OMIM:

615529

Drugs & Therapeutics for Craniosynostosis 5

Search Clinical Trials , NIH Clinical Center for Craniosynostosis 5

Genetic Tests for Craniosynostosis 5

Genetic tests related to Craniosynostosis 5:

# Genetic test Affiliating Genes
1 Craniosynostosis 5, Susceptibility to 29 ALX4

Anatomical Context for Craniosynostosis 5

MalaCards organs/tissues related to Craniosynostosis 5:

41
Brain

Publications for Craniosynostosis 5

Articles related to Craniosynostosis 5:

(show all 15)
# Title Authors PMID Year
1
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. 8 71
22829454 2012
2
Genetic analysis of non-syndromic craniosynostosis. 8
17651129 2007
3
Five-Year Follow-Up of Midface Distraction in Growing Children with Syndromic Craniosynostosis. 38
28820838 2017
4
Inhibition of copper uptake in yeast reveals the copper transporter Ctr1p as a potential molecular target of saxitoxin. 38
22304436 2012
5
The tightly regulated copper window in yeast. 38
21180717 2011
6
The zn- or cu-thionein character of a metallothionein determines its metal load when synthesized in physiological (metal-unsupplemented) conditions. 38
20467455 2010
7
Transcriptional profiling of Saccharomyces cerevisiae upon exposure to saxitoxin. 38
19731715 2009
8
The Saccharomyces cerevisiae Crs5 Metallothionein metal-binding abilities and its role in the response to zinc overload. 38
17163970 2007
9
Mitochondrial matrix copper complex used in metallation of cytochrome oxidase and superoxide dismutase. 38
17008312 2006
10
The role of PDR13 in tolerance to high copper stress in budding yeast. 38
11707276 2001
11
Identification of the copper regulon in Saccharomyces cerevisiae by DNA microarrays. 38
10922376 2000
12
Dynamic regulation of copper uptake and detoxification genes in Saccharomyces cerevisiae. 38
9599102 1998
13
Enhanced effectiveness of copper ion buffering by CUP1 metallothionein compared with CRS5 metallothionein in Saccharomyces cerevisiae. 38
8702498 1996
14
Copper ions and the regulation of Saccharomyces cerevisiae metallothionein genes under aerobic and anaerobic conditions. 38
8668123 1996
15
CRS5 encodes a metallothionein-like protein in Saccharomyces cerevisiae. 38
7929222 1994

Variations for Craniosynostosis 5

ClinVar genetic disease variations for Craniosynostosis 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALX4 NM_021926.4(ALX4): c.19G> T (p.Val7Phe) single nucleotide variant risk factor rs281865153 11:44331594-44331594 11:44310044-44310044
2 ALX4 NM_021926.4(ALX4): c.631A> G (p.Lys211Glu) single nucleotide variant risk factor rs281865154 11:44297044-44297044 11:44275494-44275494

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 5:

74
# Symbol AA change Variation ID SNP ID
1 ALX4 p.Val7Phe VAR_069279 rs281865153
2 ALX4 p.Lys211Glu VAR_069280 rs281865154

Expression for Craniosynostosis 5

Search GEO for disease gene expression data for Craniosynostosis 5.

Pathways for Craniosynostosis 5

GO Terms for Craniosynostosis 5

Sources for Craniosynostosis 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....