MCID: CRN256
MIFTS: 29

Craniosynostosis 6

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

Aliases & Classifications for Craniosynostosis 6

MalaCards integrated aliases for Craniosynostosis 6:

Name: Craniosynostosis 6 54 71 29
Crs6 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)


Classifications:



Summaries for Craniosynostosis 6

OMIM : 54
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). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). (616602)

MalaCards based summary : Craniosynostosis 6, also known as crs6, is related to zic1-related craniosynostosis, and has symptoms including scoliosis, high forehead 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, bone and pons.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
abnormal corpus callosum
agenesis of corpus callosum
hypotonia (in some patients)
developmental delay, mild to severe
more
Skeletal- Skull:
microcephaly (in some patients)
brachycephaly
plagiocephaly (in some patients)
turricephaly (rare)
bicoronal craniosynostosis
more
Skeletal- Spine:
scoliosis (in some patients)
spina bifida occulta (rare)

Neurologic- Behavioral Psychiatric Manifestations:
autistic features

Head And Neck- Face:
low anterior hairline (in some patients)
high forehead (in some patients)

Head And Neck- Eyes:
hypertelorism
ptosis (in some patients)
strabismus, divergent or convergent

Head And Neck- Head:
microcephaly (in some patients)
brachycephaly
plagiocephaly (in some patients)
turricephaly (rare)

Head And Neck- Ears:
sensorineural hearing loss (in some patients)

Skin Nails & Hair:
low anterior hairline (in some patients)


Clinical features from OMIM:

616602

Human phenotypes related to Craniosynostosis 6:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 occasional (7.5%) HP:0002650
2 high forehead 32 occasional (7.5%) HP:0000348
3 ptosis 32 occasional (7.5%) HP:0000508
4 microcephaly 32 occasional (7.5%) HP:0000252
5 hypertelorism 32 HP:0000316
6 low anterior hairline 32 occasional (7.5%) HP:0000294
7 agenesis of corpus callosum 32 HP:0001274
8 cerebellar atrophy 32 HP:0001272
9 spina bifida occulta 32 occasional (7.5%) HP:0003298
10 dandy-walker malformation 32 occasional (7.5%) HP:0001305
11 brachycephaly 32 HP:0000248
12 plagiocephaly 32 occasional (7.5%) HP:0001357
13 craniosynostosis 32 HP:0001363
14 muscular hypotonia 32 occasional (7.5%) HP:0001252
15 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
16 turricephaly 32 occasional (7.5%) HP:0000262
17 delayed cranial suture closure 32 occasional (7.5%) 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 Skullcap Nutraceutical Phase 4,Phase 1
6
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
7
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
10
Etoposide Approved Phase 3 33419-42-0 36462
11
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
12
Lenograstim Approved Phase 3 135968-09-1
13
Mechlorethamine Approved Phase 3 51-75-2 4033
14
Melphalan Approved Phase 3 148-82-3 4053 460612
15
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
16
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
17
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
18
Doxil Approved June 1999 Phase 3 31703
19 Adjuvants, Immunologic Phase 3
20 Alkylating Agents Phase 3
21 Anti-Bacterial Agents Phase 3
22 Antibiotics, Antitubercular Phase 3
23 Antimitotic Agents 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 Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4 high dose TXA;Low dose TXA
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 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
4 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
5 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
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, Bone, Pons

Publications for Craniosynostosis 6

Variations for Craniosynostosis 6

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

71
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 GRCh38 Chromosome 3, 147413370: 147413370
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 GRCh37 Chromosome 3, 147131198: 147131198
4 ZIC1 NM_003412.3(ZIC1): c.1198G> C (p.Gly400Arg) single nucleotide variant Pathogenic rs1057517670 GRCh37 Chromosome 3, 147131192: 147131192

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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