CSS8
MCID: CFF013
MIFTS: 17

Coffin-Siris Syndrome 8 (CSS8)

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

Aliases & Classifications for Coffin-Siris Syndrome 8

MalaCards integrated aliases for Coffin-Siris Syndrome 8:

Name: Coffin-Siris Syndrome 8 58 6
Css8 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)
variable dysmorphic features may be present


Classifications:



External Ids:

OMIM 58 618362

Summaries for Coffin-Siris Syndrome 8

OMIM : 58 Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities. Dysmorphic features may or may not be present and include hypertrichosis or thin scalp hair, thick eyebrows, thin upper vermilion, and upturned nose (Machol et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (618362)

MalaCards based summary : Coffin-Siris Syndrome 8, is also known as css8. An important gene associated with Coffin-Siris Syndrome 8 is SMARCC2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2). Affiliated tissues include bone.

Related Diseases for Coffin-Siris Syndrome 8

Symptoms & Phenotypes for Coffin-Siris Syndrome 8

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
long eyelashes
thick eyebrows

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
hyperactivity
sleep disturbances
aggression
behavioral abnormalities
more
Abdomen Gastrointestinal:
feeding difficulties
poor suck

Neurologic Central Nervous System:
hypotonia
seizures (uncommon)
speech delay (in some patients)
impaired intellectual development, mild to severe
absence of language

Skeletal Spine:
scoliosis (in some patients)

Growth Other:
failure to thrive

Head And Neck Nose:
anteverted nares
upturned nose

Head And Neck Mouth:
thick lower lip vermilion
thin upper lip vermilion

Skin Nails Hair Hair:
thick eyebrows
thin scalp hair
thick scalp hair

Skin Nails Hair Skin:
pigmentation abnormalities (in some patients)
eczema (in some patients)

Clinical features from OMIM:

618362

Drugs & Therapeutics for Coffin-Siris Syndrome 8

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 8

Genetic Tests for Coffin-Siris Syndrome 8

Anatomical Context for Coffin-Siris Syndrome 8

MalaCards organs/tissues related to Coffin-Siris Syndrome 8:

42
Bone

Publications for Coffin-Siris Syndrome 8

Articles related to Coffin-Siris Syndrome 8:

# Title Authors Year
1
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. ( 30580808 )
2018
2
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. ( 27620904 )
2017
3
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. ( 25590979 )
2015

Variations for Coffin-Siris Syndrome 8

ClinVar genetic disease variations for Coffin-Siris Syndrome 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCC2 NM_003075.4(SMARCC2): c.1833+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 12, 56566210: 56566210
2 SMARCC2 NM_003075.4(SMARCC2): c.1833+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 12, 56172426: 56172426
3 SMARCC2 NM_003075.4(SMARCC2): c.1311-3C> G single nucleotide variant Pathogenic GRCh38 Chromosome 12, 56178096: 56178096
4 SMARCC2 NM_003075.4(SMARCC2): c.1311-3C> G single nucleotide variant Pathogenic GRCh37 Chromosome 12, 56571880: 56571880
5 SMARCC2 NM_003075.4(SMARCC2): c.1829T> C (p.Leu610Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 56172432: 56172432
6 SMARCC2 NM_003075.4(SMARCC2): c.1829T> C (p.Leu610Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 56566216: 56566216
7 SMARCC2 NM_003075.4(SMARCC2): c.723G> A (p.Trp241Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 56575605: 56575605
8 SMARCC2 NM_003075.4(SMARCC2): c.723G> A (p.Trp241Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 56181821: 56181821
9 SMARCC2 NM_003075.4(SMARCC2): c.2686A> G (p.Met896Val) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 56168131: 56168131
10 SMARCC2 NM_003075.4(SMARCC2): c.2686A> G (p.Met896Val) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 56561915: 56561915

Expression for Coffin-Siris Syndrome 8

Search GEO for disease gene expression data for Coffin-Siris Syndrome 8.

Pathways for Coffin-Siris Syndrome 8

GO Terms for Coffin-Siris Syndrome 8

Sources for Coffin-Siris Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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