CRS2
MCID: CRN277
MIFTS: 33

Craniosynostosis 2 (CRS2)

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

Aliases & Classifications for Craniosynostosis 2

MalaCards integrated aliases for Craniosynostosis 2:

Name: Craniosynostosis 2 56 73 29 6
Craniosynostosis, Type 2 13 39 71
Warman-Mulliken-Hayward Syndrome 58 73
Craniosynostosis, Boston-Type 56 54
Crs2 56 73
Csb 56 73
Craniosynostosis, Boston-Type; Csb 56
Warman Mulliken Hayward Syndrome 71
Craniosynostosis, Boston Type 58
Craniosynostosis, Warman Type 58
Craniosynostosis Boston Type 73
Craniosynostosis Warman Type 73
Craniosynostosis Boston-Type 73
Craniosynostosis Warman-Type 73

Characteristics:

Orphanet epidemiological data:

58
craniosynostosis, boston type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable intrafamilial expression


HPO:

31
craniosynostosis 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 604757
OMIM Phenotypic Series 56 PS123100
MeSH 43 D003398
ICD10 via Orphanet 33 Q75.8
UMLS via Orphanet 72 C2931287
Orphanet 58 ORPHA1541
MedGen 41 C1858160
UMLS 71 C1858160 C2931287

Summaries for Craniosynostosis 2

UniProtKB/Swiss-Prot : 73 Craniosynostosis 2: 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. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal.

MalaCards based summary : Craniosynostosis 2, also known as craniosynostosis, type 2, is related to congenital short bowel syndrome and cockayne syndrome b, and has symptoms including seizures An important gene associated with Craniosynostosis 2 is MSX2 (Msh Homeobox 2). Affiliated tissues include brain, bone and heart, and related phenotypes are seizures and brachydactyly

OMIM : 56 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). (604757)

Related Diseases for Craniosynostosis 2

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 congenital short bowel syndrome 12.3
2 cockayne syndrome b 12.2
3 warman mulliken hayward syndrome 12.1
4 cockayne syndrome 11.8
5 cockayne syndrome a 11.6
6 uv-sensitive syndrome 11.5
7 cockayne syndrome type iii 11.2
8 xeroderma pigmentosum, variant type 10.5
9 premature aging 10.5
10 autosomal recessive disease 10.4
11 pitt-hopkins syndrome 10.3
12 helix syndrome 10.2
13 sensorineural hearing loss 10.2
14 cataract 10.2
15 microcephaly 10.2
16 hutchinson-gilford progeria syndrome 10.2
17 cerebrooculofacioskeletal syndrome 1 10.2
18 de sanctis-cacchione syndrome 10.2
19 cerebrooculofacioskeletal syndrome 2 10.2
20 cerebrooculofacioskeletal syndrome 4 10.2
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
22 cerebro-oculo-facio-skeletal syndrome 10.2
23 ovarian cancer 10.0
24 3-methylglutaconic aciduria, type iii 10.0
25 xeroderma pigmentosum, complementation group c 10.0
26 dysphasia, familial developmental 10.0
27 uv-sensitive syndrome 1 10.0
28 xeroderma pigmentosum, complementation group b 10.0
29 alkuraya-kucinskas syndrome 10.0
30 autism spectrum disorder 10.0
31 specific language impairment 10.0
32 allergic hypersensitivity disease 10.0
33 dermatomycosis 10.0
34 skin carcinoma 10.0
35 liver disease 10.0
36 dentinogenesis imperfecta type 2 10.0
37 dwarfism 10.0
38 hypertonia 10.0
39 hypotonia 10.0
40 hypoxia 10.0
41 congenital amyoplasia 10.0

Graphical network of the top 20 diseases related to Craniosynostosis 2:



Diseases related to Craniosynostosis 2

Symptoms & Phenotypes for Craniosynostosis 2

Human phenotypes related to Craniosynostosis 2:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 brachydactyly 31 occasional (7.5%) HP:0001156
3 visual field defect 31 occasional (7.5%) HP:0001123
4 myopia 31 occasional (7.5%) HP:0000545
5 increased number of teeth 31 occasional (7.5%) HP:0011069
6 headache 31 occasional (7.5%) HP:0002315
7 hypotelorism 31 occasional (7.5%) HP:0000601
8 triphalangeal thumb 31 occasional (7.5%) HP:0001199
9 hypermetropia 31 occasional (7.5%) HP:0000540
10 cleft soft palate 31 occasional (7.5%) HP:0000185
11 frontal bossing 31 HP:0002007
12 trigonocephaly 31 HP:0000243
13 brachyturricephaly 31 HP:0000244
14 bicoronal synostosis 31 HP:0011318
15 unicoronal synostosis 31 HP:0011315

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
frontal bossing
forehead retrusion (in some patients)

Skeletal Skull:
bicoronal synostosis
recession of supraorbital rim
trilobular skull with craniosynostosis
unilateral coronal suture synostosis
metopic suture synostosis
more
Head And Neck Eyes:
myopia (in some patients)
hyperopia (in some patients)
hypotelorism (in some patients)
visual field defects (rare)
myopia/hyperopia

Head And Neck Mouth:
cleft soft palate (rare)

Skeletal Feet:
short first metatarsals (in some patients)

Head And Neck Head:
craniosynostosis
brachycephaly
trigonocephaly
turricephaly
turribrachycephaly
more
Neurologic Central Nervous System:
normal intelligence
seizures (in some patients)
headaches, severe (in some patients)

Skeletal Hands:
brachydactyly (in some patients)
triphalangeal thumb (rare)
supination position of thumb (rare)

Head And Neck Teeth:
supernumerary teeth (rare)

Clinical features from OMIM:

604757

UMLS symptoms related to Craniosynostosis 2:


seizures

Drugs & Therapeutics for Craniosynostosis 2

Search Clinical Trials , NIH Clinical Center for Craniosynostosis 2

Genetic Tests for Craniosynostosis 2

Genetic tests related to Craniosynostosis 2:

# Genetic test Affiliating Genes
1 Craniosynostosis 2 29 MSX2

Anatomical Context for Craniosynostosis 2

MalaCards organs/tissues related to Craniosynostosis 2:

40
Brain, Bone, Heart, Ovary

Publications for Craniosynostosis 2

Articles related to Craniosynostosis 2:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Boston type craniosynostosis: report of a second mutation in MSX2. 6 56
23949913 2013
2
Newly recognized autosomal dominant disorder with craniosynostosis. 56 6
8357019 1993
3
Filling in the gaps in cranial suture biology. 56
23438589 2013
4
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. 6
8968743 1996
5
Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. 6
7597092 1995
6
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. 56
8106171 1993
7
Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. 56
8499900 1993
8
Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. 56
1433237 1992
9
Mapping of human chromosome 5 microsatellite DNA polymorphisms. 56
1774070 1991
10
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. 56
2916582 1989
11
External validation of a 'response score' after neoadjuvant chemotherapy in patients with high-grade serous ovarian carcinoma with complete clinical response. 61
31754067 2019
12
Pathological chemotherapy response score is prognostic in tubo-ovarian high-grade serous carcinoma: A systematic review and meta-analysis of individual patient data. 61
31118141 2019
13
Comparative de novo flower transcriptome analysis of polygamodioecious tree Garcinia indica. 61
30800583 2019
14
Mutational analysis of CCL20 reveals flexibility of N-terminal amino acid composition and length. 61
30114340 2018
15
Surgical management of craniosynostosis in the setting of a ventricular shunt: a case series and treatment algorithm. 61
29110198 2018
16
An Appraisal of the Cephalic Index in Sagittal Craniosynostosis, and the Unseen Third Dimension. 61
28654600 2017
17
What's New in Syndromic Craniosynostosis Surgery? 61
28654610 2017
18
Evidence-Based Medicine: Nonsyndromic Craniosynostosis. 61
28654618 2017
19
Comparison between piezosurgery and conventional osteotomy in cranioplasty with fronto-orbital advancement. 61
28108236 2017
20
G Protein-Coupled Receptor-G-Protein βγ-Subunit Signaling Mediates Renal Dysfunction and Fibrosis in Heart Failure. 61
27297948 2017
21
Mutational Analysis of Atypical Chemokine Receptor 3 (ACKR3/CXCR7) Interaction with Its Chemokine Ligands CXCL11 and CXCL12. 61
27875312 2017
22
The Role of Congestion in Cardiorenal Syndrome Type 2: New Pathophysiological Insights into an Experimental Model of Heart Failure. 61
27194997 2015
23
[Correction of hypotelorism in craniofacial deformity]. 61
26211176 2015
24
Pathophysiology of cardiorenal syndrome type 2 in stable chronic heart failure: workgroup statements from the eleventh consensus conference of the Acute Dialysis Quality Initiative (ADQI). 61
23689659 2013
25
Management of vertical deviations secondary to other anatomical abnormalities. 61
22069850 2011
26
Whole cranial vault expansion by continual occipital and fronto-orbital distraction in syndromic craniosynostosis. 61
21233733 2011
27
Two CRM protein subfamilies cooperate in the splicing of group IIB introns in chloroplasts. 61
18799595 2008
28
The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. 54
18786927 2008
29
Importance of the interferon-alpha system in murine large intestine indicated by microarray analysis of commensal bacteria-induced immunological changes. 61
18439305 2008
30
MOC-PS(SM) CME article: management considerations in the treatment of craniosynostosis. 61
18379381 2008
31
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. 54
18000908 2007
32
Formation of the CRS2-CAF2 group II intron splicing complex is mediated by a 22-amino acid motif in the COOH-terminal region of CAF2. 61
16379013 2006
33
Structural analysis of the group II intron splicing factor CRS2 yields insights into its protein and RNA interaction surfaces. 61
15567410 2005
34
COUP-TF and transcriptional co-regulators in adrenal steroidogenesis. 61
15666827 2004
35
Group II intron splicing factors derived by diversification of an ancient RNA-binding domain. 61
12881426 2003
36
Regulation of differential COUP-TF-coregulator interactions in adrenal cortical steroidogenesis. 61
12943735 2003
37
Characterization of receptor-interacting protein RIP140 in the regulation of SF-1 responsive target genes. 61
12782406 2003
38
Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5. 54
11683913 2001
39
Recruitment of a peptidyl-tRNA hydrolase as a facilitator of group II intron splicing in chloroplasts. 61
11179231 2001
40
[A case of bilateral coronal craniosynostosis with the P250R mutation in FGFR3 gene]. 61
11197897 2001
41
Comparative analysis of splicing of the complete set of chloroplast group II introns in three higher plant mutants. 61
10481026 1999
42
Surgical outcomes using bioabsorbable plating systems in pediatric craniofacial surgery. 61
9780913 1998
43
The bovine CYP17 promoter contains a transcriptional regulatory element cooperatively bound by tale homeodomain proteins. 61
9888529 1998
44
Biochemical and functional analysis of nuclear receptors as targets in cAMP-dependent control of bovine CYP17. 61
9888530 1998
45
Molecular genetics of craniosynostotic syndromes. 54
9342602 1997
46
Nuclear mutations that block group II RNA splicing in maize chloroplasts reveal several intron classes with distinct requirements for splicing factors. 61
9090875 1997
47
Perinatal lethality and multiple craniofacial malformations in MSX2 transgenic mice. 54
9147639 1997
48
Transcriptional regulation of the bovine CYP17 gene by cAMP. 61
9029713 1997
49
17alpha-Hydroxylase gene expression in the bovine ovary: mechanisms regulating expression differ from those in adrenal cells. 61
9009234 1996
50
Mutually exclusive interactions of two nuclear orphan receptors determine activity of a cyclic adenosine 3',5'-monophosphate-responsive sequence in the bovine CYP17 gene. 61
7776979 1995

Variations for Craniosynostosis 2

ClinVar genetic disease variations for Craniosynostosis 2:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MSX2 NM_002449.5(MSX2):c.443C>A (p.Pro148His)SNV Pathogenic 16961 rs104893895 5:174156225-174156225 5:174729222-174729222
2 MSX2 NM_002449.5(MSX2):c.443C>T (p.Pro148Leu)SNV Likely pathogenic 219192 rs104893895 5:174156225-174156225 5:174729222-174729222

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 2:

73
# Symbol AA change Variation ID SNP ID
1 MSX2 p.Pro148His VAR_003755 rs104893895
2 MSX2 p.Pro148Leu VAR_071634 rs104893895

Expression for Craniosynostosis 2

Search GEO for disease gene expression data for Craniosynostosis 2.

Pathways for Craniosynostosis 2

GO Terms for Craniosynostosis 2

Sources for Craniosynostosis 2

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
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