CSS10
MCID: CFF015
MIFTS: 17

Coffin-Siris Syndrome 10 (CSS10)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Coffin-Siris Syndrome 10

MalaCards integrated aliases for Coffin-Siris Syndrome 10:

Name: Coffin-Siris Syndrome 10 57 6
Css10 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
four patients have been reported (last curated july 2019)


Classifications:



External Ids:

Summaries for Coffin-Siris Syndrome 10

OMIM : 57 Coffin-Siris syndrome-10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present (Zawerton et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (618506)

MalaCards based summary : Coffin-Siris Syndrome 10, is also known as css10. An important gene associated with Coffin-Siris Syndrome 10 is SOX4 (SRY-Box Transcription Factor 4).

Related Diseases for Coffin-Siris Syndrome 10

Symptoms & Phenotypes for Coffin-Siris Syndrome 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Nose:
anteverted nares

Neurologic Central Nervous System:
hypotonia
intellectual disability, mild to severe
spastic quadriparesis (in one patient)

Cardiovascular Heart:
ventricular septal defect (in one patient)

Respiratory Larynx:
laryngomalacia (in one patient)

Head And Neck Head:
microcephaly

Head And Neck Mouth:
wide mouth
cupid's bow

Head And Neck Eyes:
epicanthal folds

Head And Neck Teeth:
delayed loss of primary teeth (in one patient)

Skeletal Hands:
clinodactyly, bilateral (5th finger)

Clinical features from OMIM:

618506

Drugs & Therapeutics for Coffin-Siris Syndrome 10

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 10

Genetic Tests for Coffin-Siris Syndrome 10

Anatomical Context for Coffin-Siris Syndrome 10

Publications for Coffin-Siris Syndrome 10

Articles related to Coffin-Siris Syndrome 10:

(showing 3, show less)
# Title Authors PMID Year
1
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 8 71
30661772 2019
2
Chromosome substitution strain assessment of a Huntington's disease modifier locus. 38
25645993 2015
3
Use of chromosome substitution strains to identify seizure susceptibility loci in mice. 38
17242861 2007

Variations for Coffin-Siris Syndrome 10

ClinVar genetic disease variations for Coffin-Siris Syndrome 10:

6 (showing 4, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SOX4 NM_003107.3(SOX4): c.334G> C (p.Ala112Pro) single nucleotide variant Pathogenic 6:21595099-21595099 6:21594868-21594868
2 SOX4 NM_003107.3(SOX4): c.176T> G (p.Ile59Ser) single nucleotide variant Pathogenic 6:21594941-21594941 6:21594710-21594710
3 SOX4 NM_003107.3(SOX4): c.315G> T (p.Lys105Asn) single nucleotide variant Pathogenic 6:21595080-21595080 6:21594849-21594849
4 SOX4 NM_003107.3(SOX4): c.198C> A (p.Phe66Leu) single nucleotide variant Likely pathogenic rs1334099693 6:21594963-21594963 6:21594732-21594732

Expression for Coffin-Siris Syndrome 10

Search GEO for disease gene expression data for Coffin-Siris Syndrome 10.

Pathways for Coffin-Siris Syndrome 10

GO Terms for Coffin-Siris Syndrome 10

Sources for Coffin-Siris Syndrome 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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