MCID: CRN256
MIFTS: 21

Craniosynostosis 6

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

Aliases & Classifications for Craniosynostosis 6

MalaCards integrated aliases for Craniosynostosis 6:

Name: Craniosynostosis 6 53 71 28
Crs6 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)


HPO:

31
craniosynostosis 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Craniosynostosis 6

OMIM : 53 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, is also known as crs6, and has symptoms including hypertelorism, agenesis of corpus callosum and ptosis. An important gene associated with Craniosynostosis 6 is ZIC1 (Zic Family Member 1). Affiliated tissues include brain 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:

53
HeadAndNeckEyes:
hypertelorism
ptosis (in some patients)
strabismus, divergent or convergent

HeadAndNeckHead:
brachycephaly
microcephaly (in some patients)
plagiocephaly (in some patients)
turricephaly (rare)

NeurologicBehavioralPsychiatricManifestations:
autistic features

HeadAndNeckEars:
sensorineural hearing loss (in some patients)

SkinNailsHair:
low anterior hairline (in some patients)

NeurologicCentralNervousSystem:
agenesis of corpus callosum
hypotonia
cerebellar atrophy, mild
dandy-walker malformation (rare)
hypotonia (in some patients)
more
SkeletalSkull:
brachycephaly
microcephaly (in some patients)
plagiocephaly (in some patients)
turricephaly (rare)
bicoronal craniosynostosis
more
SkeletalSpine:
scoliosis (in some patients)
spina bifida occulta (rare)

HeadAndNeckFace:
low anterior hairline (in some patients)
high forehead (in some patients)


Clinical features from OMIM:

616602

Human phenotypes related to Craniosynostosis 6:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 agenesis of corpus callosum 31 HP:0001274
3 ptosis 31 occasional (7.5%) HP:0000508
4 scoliosis 31 occasional (7.5%) HP:0002650
5 global developmental delay 31 HP:0001263
6 microcephaly 31 occasional (7.5%) HP:0000252
7 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
8 brachycephaly 31 HP:0000248
9 turricephaly 31 occasional (7.5%) HP:0000262
10 low anterior hairline 31 occasional (7.5%) HP:0000294
11 high forehead 31 occasional (7.5%) HP:0000348
12 spina bifida occulta 31 occasional (7.5%) HP:0003298
13 craniosynostosis 31 HP:0001363
14 plagiocephaly 31 occasional (7.5%) HP:0001357
15 cerebellar atrophy 31 HP:0001272
16 dandy-walker malformation 31 occasional (7.5%) HP:0001305
17 delayed cranial suture closure 31 occasional (7.5%) HP:0000270
18 generalized hypotonia 31 occasional (7.5%) HP:0001290

Drugs & Therapeutics for Craniosynostosis 6

Search Clinical Trials , NIH Clinical Center for Craniosynostosis 6

Genetic Tests for Craniosynostosis 6

Genetic tests related to Craniosynostosis 6:

# Genetic test Affiliating Genes
1 Craniosynostosis 6 28 ZIC1

Anatomical Context for Craniosynostosis 6

MalaCards organs/tissues related to Craniosynostosis 6:

38
Brain, Pons

Publications for Craniosynostosis 6

Variations for Craniosynostosis 6

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

71
# Symbol AA change Variation ID SNP ID
1 ZIC1 p.Gly400Arg VAR_075867 rs1057517670Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis 6:

6
# 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 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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