CRS6
MCID: CRN256
MIFTS: 25

Craniosynostosis 6 (CRS6) malady

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

Aliases & Classifications for Craniosynostosis 6

Aliases & Descriptions for Craniosynostosis 6:

Name: Craniosynostosis 6 54 66 29
Crs6 66

Classifications:



External Ids:

OMIM 54 616602
MedGen 40 CN233152
MeSH 42 D003398

Summaries for Craniosynostosis 6

OMIM : 54 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that... (616602) more...

MalaCards based summary : Craniosynostosis 6, also known as crs6, is related to craniosynostosis, type 1 and zic1-related craniosynostosis, and has symptoms including hypertelorism, agenesis of corpus callosum and ptosis. An important gene associated with Craniosynostosis 6 is ZIC1 (Zic Family Member 1). The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 66 Craniosynostosis 6: 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 6

Symptoms & Phenotypes for Craniosynostosis 6

Clinical features from OMIM:

616602

Human phenotypes related to Craniosynostosis 6:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 HP:0001274
3 ptosis 32 HP:0000508
4 muscular hypotonia 32 HP:0001252
5 scoliosis 32 HP:0002650
6 microcephaly 32 HP:0000252
7 sensorineural hearing impairment 32 HP:0000407
8 brachycephaly 32 HP:0000248
9 turricephaly 32 HP:0000262
10 low anterior hairline 32 HP:0000294
11 high forehead 32 HP:0000348
12 spina bifida occulta 32 HP:0003298
13 craniosynostosis 32 HP:0001363
14 plagiocephaly 32 HP:0001357
15 cerebellar atrophy 32 HP:0001272
16 dandy-walker malformation 32 HP:0001305
17 delayed cranial suture closure 32 HP:0000270

Drugs & Therapeutics for Craniosynostosis 6

Drugs for Craniosynostosis 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4,Phase 2,Phase 1
3 Coagulants Phase 4,Phase 2,Phase 1
4 Hemostatics Phase 4,Phase 2,Phase 1
5
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
6
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
9
Etoposide Approved Phase 3 33419-42-0 36462
10
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
11
Lenograstim Approved Phase 3 135968-09-1
12
Mechlorethamine Approved Phase 3 51-75-2 4033
13
Melphalan Approved Phase 3 148-82-3 4053 460612
14
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
15
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
16
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
17
Doxil Approved June 1999 Phase 3 31703
18 Adjuvants, Immunologic Phase 3
19 Alkylating Agents Phase 3
20 Anti-Bacterial Agents Phase 3
21 Antibiotics, Antitubercular Phase 3
22 Antimitotic Agents Phase 3
23 Antineoplastic Agents, Alkylating Phase 3
24 Antineoplastic Agents, Phytogenic Phase 3
25 Antirheumatic Agents Phase 3
26 Dermatologic Agents Phase 3
27 Etoposide phosphate Phase 3
28 Immunosuppressive Agents Phase 3
29 topoisomerase I inhibitors Phase 3
30 Topoisomerase Inhibitors Phase 3
31 phenylalanine Nutraceutical Phase 3
32
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
33 Calcium, Dietary

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4
2 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
3 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3
4 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2
5 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1
6 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
7 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
8 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847

Search NIH Clinical Center for Craniosynostosis 6

Genetic Tests for Craniosynostosis 6

Genetic tests related to Craniosynostosis 6:

id Genetic test Affiliating Genes
1 Craniosynostosis 6 29

Anatomical Context for Craniosynostosis 6

MalaCards organs/tissues related to Craniosynostosis 6:

39
Brain

Publications for Craniosynostosis 6

Variations for Craniosynostosis 6

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 6:

66
id Symbol AA change Variation ID SNP ID
1 ZIC1 p.Gly400Arg VAR_075867

ClinVar genetic disease variations for Craniosynostosis 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ZIC1 NM_003412.3(ZIC1): c.1163C> A (p.Ser388Ter) single nucleotide variant Pathogenic rs1057517667 GRCh37 Chromosome 3, 147131157: 147131157
2 ZIC1 NM_003412.3(ZIC1): c.1165C> T (p.Gln389Ter) single nucleotide variant Pathogenic rs1057517668 GRCh38 Chromosome 3, 147413372: 147413372
3 ZIC1 NM_003412.3(ZIC1): c.1204G> T (p.Glu402Ter) single nucleotide variant Pathogenic rs1057517669 GRCh38 Chromosome 3, 147413411: 147413411
4 ZIC1 NM_003412.3(ZIC1): c.1198G> C (p.Gly400Arg) single nucleotide variant Pathogenic rs1057517670 GRCh38 Chromosome 3, 147413405: 147413405

Expression for Craniosynostosis 6

Search GEO for disease gene expression data for Craniosynostosis 6.

Pathways for Craniosynostosis 6

GO Terms for Craniosynostosis 6

Sources for Craniosynostosis 6

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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