CRS2
MCID: CRN158
MIFTS: 31

Craniosynostosis, Type 2 (CRS2) malady

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

Aliases & Classifications for Craniosynostosis, Type 2

Aliases & Descriptions for Craniosynostosis, Type 2:

Name: Craniosynostosis, Type 2 54 13 69
Warman-Mulliken-Hayward Syndrome 56 66
Craniosynostosis 2 54 66
Warman Mulliken Hayward Syndrome 69
Craniosynostosis, Boston Type 56
Craniosynostosis, Warman Type 56
Craniosynostosis, Boston-Type 52
Craniosynostosis Boston Type 66
Craniosynostosis Warman Type 66
Craniosynostosis Boston-Type 66
Craniosynostosis Warman-Type 66
Craniosynostosis Type Ii 29
Crs2 66
Csb 66

Characteristics:

Orphanet epidemiological data:

56
craniosynostosis, boston type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 54 604757
Orphanet 56 ORPHA1541
ICD10 via Orphanet 34 Q75.8
MedGen 40 C1858160
MeSH 42 D003398

Summaries for Craniosynostosis, Type 2

UniProtKB/Swiss-Prot : 66 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, Type 2, also known as warman-mulliken-hayward syndrome, is related to congenital short bowel syndrome and cockayne syndrome, and has symptoms including seizures An important gene associated with Craniosynostosis, Type 2 is MSX2 (Msh Homeobox 2). The drugs Carboplatin and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include brain and bone.

OMIM : 54 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that... (604757) more...

Related Diseases for Craniosynostosis, Type 2

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



Diseases related to Craniosynostosis, Type 2

Symptoms & Phenotypes for Craniosynostosis, Type 2

Clinical features from OMIM:

604757

UMLS symptoms related to Craniosynostosis, Type 2:


seizures

Drugs & Therapeutics for Craniosynostosis, Type 2

Drugs for Craniosynostosis, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
2
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
5
Etoposide Approved Phase 3 33419-42-0 36462
6
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
7
Lenograstim Approved Phase 3 135968-09-1
8
Mechlorethamine Approved Phase 3 51-75-2 4033
9
Melphalan Approved Phase 3 148-82-3 4053 460612
10
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
11
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
12
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
13
Doxil Approved June 1999 Phase 3 31703
14 Adjuvants, Immunologic Phase 3
15 Alkylating Agents Phase 3
16 Anti-Bacterial Agents Phase 3
17 Antibiotics, Antitubercular Phase 3
18 Antimitotic Agents Phase 3
19 Antineoplastic Agents, Alkylating Phase 3
20 Antineoplastic Agents, Phytogenic Phase 3
21 Antirheumatic Agents Phase 3
22 Dermatologic Agents Phase 3
23 Etoposide phosphate Phase 3
24 Immunosuppressive Agents Phase 3
25 topoisomerase I inhibitors Phase 3
26 Topoisomerase Inhibitors Phase 3
27 phenylalanine Nutraceutical Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3
2 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
3 Osteogenic Profiling of Tissue From Children With Craniosynostosis Recruiting NCT00773643

Search NIH Clinical Center for Craniosynostosis, Type 2

Genetic Tests for Craniosynostosis, Type 2

Genetic tests related to Craniosynostosis, Type 2:

id Genetic test Affiliating Genes
1 Craniosynostosis 2 29

Anatomical Context for Craniosynostosis, Type 2

MalaCards organs/tissues related to Craniosynostosis, Type 2:

39
Brain, Bone

Publications for Craniosynostosis, Type 2

Variations for Craniosynostosis, Type 2

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

66
id Symbol AA change Variation ID SNP ID
1 MSX2 p.Pro148His VAR_003755 rs104893895
2 MSX2 p.Pro148Leu VAR_071634

ClinVar genetic disease variations for Craniosynostosis, Type 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MSX2 NM_002449.4(MSX2): c.443C> A (p.Pro148His) single nucleotide variant Pathogenic rs104893895 GRCh37 Chromosome 5, 174156225: 174156225
2 MSX2 NM_002449.4(MSX2): c.443C> T (p.Pro148Leu) single nucleotide variant Pathogenic rs104893895 GRCh37 Chromosome 5, 174156225: 174156225

Expression for Craniosynostosis, Type 2

Search GEO for disease gene expression data for Craniosynostosis, Type 2.

Pathways for Craniosynostosis, Type 2

GO Terms for Craniosynostosis, Type 2

Sources for Craniosynostosis, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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