CSS10
MCID: CFF015
MIFTS: 20

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 56 73 6
Css10 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
coffin-siris syndrome 10:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 10

UniProtKB/Swiss-Prot : 73 Coffin-Siris syndrome 10: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS10 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. CSS10 inheritance is autosomal dominant.

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 phenotypes are laryngomalacia and ventricular septal defect

OMIM : 56 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)

Related Diseases for Coffin-Siris Syndrome 10

Symptoms & Phenotypes for Coffin-Siris Syndrome 10

Human phenotypes related to Coffin-Siris Syndrome 10:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 laryngomalacia 31 very rare (1%) HP:0001601
2 ventricular septal defect 31 very rare (1%) HP:0001629
3 spastic tetraparesis 31 very rare (1%) HP:0001285
4 persistence of primary teeth 31 very rare (1%) HP:0006335
5 intellectual disability 31 HP:0001249
6 microcephaly 31 HP:0000252
7 anteverted nares 31 HP:0000463
8 low-set ears 31 HP:0000369
9 epicanthus 31 HP:0000286
10 wide mouth 31 HP:0000154
11 posteriorly rotated ears 31 HP:0000358
12 generalized hypotonia 31 HP:0001290
13 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

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

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 Nose:
anteverted nares

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:

# Title Authors PMID Year
1
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 6 56
30661772 2019
2
Chromosome substitution strain assessment of a Huntington's disease modifier locus. 61
25645993 2015
3
Use of chromosome substitution strains to identify seizure susceptibility loci in mice. 61
17242861 2007

Variations for Coffin-Siris Syndrome 10

ClinVar genetic disease variations for Coffin-Siris Syndrome 10:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOX4 NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)SNV Pathogenic 635852 6:21595099-21595099 6:21594868-21594868
2 SOX4 NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)SNV Pathogenic 635853 6:21594941-21594941 6:21594710-21594710
3 SOX4 NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)SNV Pathogenic 635854 6:21595080-21595080 6:21594849-21594849
4 SOX4 NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)SNV Likely pathogenic 548142 rs1334099693 6:21594963-21594963 6:21594732-21594732

UniProtKB/Swiss-Prot genetic disease variations for Coffin-Siris Syndrome 10:

73
# Symbol AA change Variation ID SNP ID
1 SOX4 p.Ile59Ser VAR_083360
2 SOX4 p.Phe66Leu VAR_083361
3 SOX4 p.Lys105Asn VAR_083362
4 SOX4 p.Ala112Pro VAR_083363

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 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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