CRS6
MCID: CRN256
MIFTS: 24

Craniosynostosis 6 (CRS6)

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

Aliases & Classifications for Craniosynostosis 6

MalaCards integrated aliases for Craniosynostosis 6:

Name: Craniosynostosis 6 56 73 29 6
Crs6 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)


HPO:

31
craniosynostosis 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Craniosynostosis 6

OMIM : 56 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). Structural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS; 618736) is an allelic disorder. (616602)

MalaCards based summary : Craniosynostosis 6, also known as crs6, is related to structural brain anomalies with impaired intellectual development and craniosynostosis. An important gene associated with Craniosynostosis 6 is ZIC1 (Zic Family Member 1). Affiliated tissues include brain, pons and bone, and related phenotypes are scoliosis and ptosis

UniProtKB/Swiss-Prot : 73 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

Diseases in the Craniosynostosis family:

Craniosynostosis 1 Craniosynostosis 4
Craniosynostosis 2 Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis 3 Craniosynostosis 5
Craniosynostosis 6 Craniosynostosis 7
Craniosynostosis Autosomal Dominant

Diseases related to Craniosynostosis 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 structural brain anomalies with impaired intellectual development and craniosynostosis 11.3

Symptoms & Phenotypes for Craniosynostosis 6

Human phenotypes related to Craniosynostosis 6:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 ptosis 31 occasional (7.5%) HP:0000508
3 muscular hypotonia 31 occasional (7.5%) HP:0001252
4 microcephaly 31 occasional (7.5%) HP:0000252
5 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
6 generalized hypotonia 31 occasional (7.5%) HP:0001290
7 high forehead 31 occasional (7.5%) HP:0000348
8 dandy-walker malformation 31 occasional (7.5%) HP:0001305
9 turricephaly 31 occasional (7.5%) HP:0000262
10 low anterior hairline 31 occasional (7.5%) HP:0000294
11 spina bifida occulta 31 occasional (7.5%) HP:0003298
12 delayed cranial suture closure 31 occasional (7.5%) HP:0000270
13 plagiocephaly 31 occasional (7.5%) HP:0001357
14 hypertelorism 31 HP:0000316
15 agenesis of corpus callosum 31 HP:0001274
16 global developmental delay 31 HP:0001263
17 craniosynostosis 31 HP:0001363
18 brachycephaly 31 HP:0000248
19 strabismus 31 HP:0000486
20 cerebellar atrophy 31 HP:0001272

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Brain, Pons, Bone

Publications for Craniosynostosis 6

Articles related to Craniosynostosis 6:

# Title Authors PMID Year
1
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. 56 6
26340333 2015
2
Filling in the gaps in cranial suture biology. 56
23438589 2013
3
Applications of Computer Technology in Complex Craniofacial Reconstruction. 61
29707444 2018
4
Crystallographic, Electronic, and Magnetic Properties of Rock Salt Superstructure Sulfide Lu2CrS4 with Jahn-Teller Distortion. 61
26418027 2015
5
Magnetostriction and ferroelectric state in AgCrS₂. 61
25817080 2015
6
Factors implicated for late presentations of gross congenital anomaly of the nervous system in a developing nation. 61
19085360 2008

Variations for Craniosynostosis 6

ClinVar genetic disease variations for Craniosynostosis 6:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZIC1 NM_003412.4(ZIC1):c.1198G>C (p.Gly400Arg)SNV Pathogenic 372164 rs1057517670 3:147131192-147131192 3:147413405-147413405

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

73
# Symbol AA change Variation ID SNP ID
1 ZIC1 p.Gly400Arg VAR_075867 rs105751767

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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