MCID: CRN256
MIFTS: 21

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 57 75 29 6
Crs6 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)


HPO:

32
craniosynostosis 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Craniosynostosis 6

OMIM : 57 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. An important gene associated with Craniosynostosis 6 is ZIC1 (Zic Family Member 1). Affiliated tissues include brain and pons, and related phenotypes are hypertelorism and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 75 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:

57
Head And Neck Eyes:
hypertelorism
ptosis (in some patients)
strabismus, divergent or convergent

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

Neurologic Behavioral Psychiatric Manifestations:
autistic features

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

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

Neurologic Central Nervous System:
agenesis of corpus callosum
hypotonia
cerebellar atrophy, mild
dandy-walker malformation (rare)
hypotonia (in some patients)
more
Skeletal Skull:
brachycephaly
microcephaly (in some patients)
plagiocephaly (in some patients)
turricephaly (rare)
bicoronal craniosynostosis
more
Skeletal Spine:
scoliosis (in some patients)
spina bifida occulta (rare)

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


Clinical features from OMIM:

616602

Human phenotypes related to Craniosynostosis 6:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 HP:0001274
3 ptosis 32 occasional (7.5%) HP:0000508
4 scoliosis 32 occasional (7.5%) HP:0002650
5 global developmental delay 32 HP:0001263
6 microcephaly 32 occasional (7.5%) HP:0000252
7 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
8 brachycephaly 32 HP:0000248
9 turricephaly 32 occasional (7.5%) HP:0000262
10 low anterior hairline 32 occasional (7.5%) HP:0000294
11 high forehead 32 occasional (7.5%) HP:0000348
12 spina bifida occulta 32 occasional (7.5%) HP:0003298
13 craniosynostosis 32 HP:0001363
14 plagiocephaly 32 occasional (7.5%) HP:0001357
15 cerebellar atrophy 32 HP:0001272
16 dandy-walker malformation 32 occasional (7.5%) HP:0001305
17 delayed cranial suture closure 32 occasional (7.5%) HP:0000270
18 generalized hypotonia 32 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 29 ZIC1

Anatomical Context for Craniosynostosis 6

MalaCards organs/tissues related to Craniosynostosis 6:

41
Brain, Pons

Publications for Craniosynostosis 6

Variations for Craniosynostosis 6

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

75
# 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.1163C> A (p.Ser388Ter) single nucleotide variant Pathogenic rs1057517667 GRCh37 Chromosome 3, 147131157: 147131157
3 ZIC1 NM_003412.3(ZIC1): c.1165C> T (p.Gln389Ter) single nucleotide variant Pathogenic rs1057517668 GRCh38 Chromosome 3, 147413372: 147413372
4 ZIC1 NM_003412.3(ZIC1): c.1165C> T (p.Gln389Ter) single nucleotide variant Pathogenic rs1057517668 GRCh37 Chromosome 3, 147131159: 147131159
5 ZIC1 NM_003412.3(ZIC1): c.1204G> T (p.Glu402Ter) single nucleotide variant Pathogenic rs1057517669 GRCh38 Chromosome 3, 147413411: 147413411
6 ZIC1 NM_003412.3(ZIC1): c.1204G> T (p.Glu402Ter) single nucleotide variant Pathogenic rs1057517669 GRCh37 Chromosome 3, 147131198: 147131198
7 ZIC1 NM_003412.3(ZIC1): c.1198G> C (p.Gly400Arg) single nucleotide variant Pathogenic rs1057517670 GRCh38 Chromosome 3, 147413405: 147413405
8 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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