CRS7
MCID: CRN281
MIFTS: 32

Craniosynostosis 7 (CRS7)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Infectious diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Craniosynostosis 7

MalaCards integrated aliases for Craniosynostosis 7:

Name: Craniosynostosis 7 57 73 28 5
Craniosynostosis 7, Susceptibility to 57 28 5
Craniosynostosis 7, Digenic 57 73
Crs7 57 73
Craniosynostosis, Susceptibility to, Type 7 38
Crs7, Digenic 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
weakly penetrant except in the presence of a bmp2 modifier allele


Classifications:



External Ids:

OMIM® 57 617439
OMIM Phenotypic Series 57 PS123100
MeSH 43 D003398

Summaries for Craniosynostosis 7

OMIM®: 57 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). (617439) (Updated 08-Dec-2022)

MalaCards based summary: Craniosynostosis 7, also known as craniosynostosis 7, susceptibility to, is related to hepatitis c and hepatitis. An important gene associated with Craniosynostosis 7 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Signaling by TGFB family members and Signaling by BMP. Affiliated tissues include brain, and related phenotypes are delayed speech and language development and craniosynostosis

UniProtKB/Swiss-Prot: 73 A form of craniosynostosis, 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 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hepatitis c 10.0
2 hepatitis 10.0
3 liver cirrhosis 10.0
4 craniosynostosis 9.7 SMAD6 BMP2
5 synostosis 9.7 SMAD6 BMP2
6 brachydactyly, type a2 9.7 SMAD6 BMP2
7 fibrodysplasia ossificans progressiva 9.6 SMAD6 BMP2
8 aortic valve disease 2 9.6 SMAD6 BMP2
9 aortic valve disease 1 9.5 SMAD6 BMP2

Graphical network of the top 20 diseases related to Craniosynostosis 7:



Diseases related to Craniosynostosis 7

Symptoms & Phenotypes for Craniosynostosis 7

Human phenotypes related to Craniosynostosis 7:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 30 HP:0000750
2 craniosynostosis 30 HP:0001363

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
neurodevelopmental delay
speech delay
gross and fine motor delays
sensory disorder (rare)

Skeletal Skull:
craniosynostosis
premature fusion of metopic suture
premature fusion of sagittal suture

Head And Neck Head:
craniosynostosis

Clinical features from OMIM®:

617439 (Updated 08-Dec-2022)

Drugs & Therapeutics for Craniosynostosis 7

Search Clinical Trials, NIH Clinical Center for Craniosynostosis 7

Genetic Tests for Craniosynostosis 7

Genetic tests related to Craniosynostosis 7:

# Genetic test Affiliating Genes
1 Craniosynostosis 7 28 SMAD6
2 Craniosynostosis 7, Susceptibility to 28

Anatomical Context for Craniosynostosis 7

Organs/tissues related to Craniosynostosis 7:

MalaCards : Brain

Publications for Craniosynostosis 7

Articles related to Craniosynostosis 7:

# Title Authors PMID Year
1
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. 57 5
27606499 2016
2
Filling in the gaps in cranial suture biology. 57
23438589 2013
3
Milestones Contributing to the Evolution of Craniofacial Surgery. 62
26517470 2015
4
Predicting cirrhosis and clinical outcomes in patients with advanced chronic hepatitis C with a panel of genetic markers (CRS7). 62
21946897 2011
5
A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. 62
18344207 2008
6
Maximizing results in craniofacial surgery with bioresorbable fixation devices. 62
17667688 2007
7
Early experience with biodegradable fixation for congenital pediatric craniofacial surgery. 62
10332277 1997

Variations for Craniosynostosis 7

ClinVar genetic disease variations for Craniosynostosis 7:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMAD6 NM_005585.5(SMAD6):c.269dup (p.Arg91fs) DUP Pathogenic
1174567 GRCh37: 15:66995859-66995860
GRCh38: 15:66703521-66703522
2 SMAD6 NM_005585.5(SMAD6):c.1034del (p.Arg345fs) DEL Risk Factor
417817 rs1085307122 GRCh37: 15:67073416-67073416
GRCh38: 15:66781078-66781078
3 BMP2 NC_000020.11:g.7125642T>C SNV Risk Factor
427724 rs1884302 GRCh37: 20:7106289-7106289
GRCh38: 20:7125642-7125642
4 SMAD6 NM_005585.5(SMAD6):c.592del (p.Arg198fs) DEL Likely Pathogenic
992966 rs1893041298 GRCh37: 15:66996186-66996186
GRCh38: 15:66703848-66703848
5 SMAD6 NM_005585.5(SMAD6):c.667C>T (p.Gln223Ter) SNV Risk Factor
417818 rs1064793003 GRCh37: 15:66996263-66996263
GRCh38: 15:66703925-66703925
6 SMAD6 NM_005585.5(SMAD6):c.1393C>T (p.Arg465Cys) SNV Risk Factor
417819 rs761888345 GRCh37: 15:67073775-67073775
GRCh38: 15:66781437-66781437
7 SMAD6 NM_005585.5(SMAD6):c.1412G>T (p.Gly471Val) SNV Likely Pathogenic
1707547 GRCh37: 15:67073794-67073794
GRCh38: 15:66781456-66781456
8 SMAD6 NM_005585.5(SMAD6):c.1296dup (p.Gly433fs) DUP Uncertain Significance
1315652 GRCh37: 15:67073672-67073673
GRCh38: 15:66781334-66781335
9 SMAD6 NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr) SNV Uncertain Significance
405517 rs199822239 GRCh37: 15:67073355-67073355
GRCh38: 15:66781017-66781017
10 SMAD6 NM_005585.5(SMAD6):c.1419dup (p.Pro474fs) DUP Uncertain Significance
976003 rs1894573824 GRCh37: 15:67073796-67073797
GRCh38: 15:66781458-66781459
11 SMAD6 NM_005585.5(SMAD6):c.776T>C (p.Val259Ala) SNV Not Provided
579137 rs1049275389 GRCh37: 15:66996372-66996372
GRCh38: 15:66704034-66704034

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 7:

73
# Symbol AA change Variation ID SNP ID
1 SMAD6 p.Thr306Ala VAR_077592
2 SMAD6 p.Pro323Leu VAR_077593 rs1374099442
3 SMAD6 p.Gly390Cys VAR_077594
4 SMAD6 p.Arg465Cys VAR_077595 rs761888345
5 SMAD6 p.Ile490Thr VAR_078928 rs1338294058

Expression for Craniosynostosis 7

Search GEO for disease gene expression data for Craniosynostosis 7.

Pathways for Craniosynostosis 7

Pathways related to Craniosynostosis 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.55 SMAD6 BMP2
2
Show member pathways
10.78 SMAD6 BMP2
3 9.7 SMAD6 BMP2

GO Terms for Craniosynostosis 7

Biological processes related to Craniosynostosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell population proliferation GO:0008285 9.62 SMAD6 BMP2
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.56 SMAD6 BMP2
3 BMP signaling pathway GO:0030509 9.46 SMAD6 BMP2
4 SMAD protein signal transduction GO:0060395 9.26 SMAD6 BMP2
5 positive regulation of miRNA transcription GO:1902895 8.92 SMAD6 BMP2

Sources for Craniosynostosis 7

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....