CSS8
MCID: CFF013
MIFTS: 25

Coffin-Siris Syndrome 8 (CSS8)

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

Aliases & Classifications for Coffin-Siris Syndrome 8

MalaCards integrated aliases for Coffin-Siris Syndrome 8:

Name: Coffin-Siris Syndrome 8 56 73 29 6
Css8 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
coffin-siris syndrome 8:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 8

UniProtKB/Swiss-Prot : 73 Coffin-Siris syndrome 8: 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. CSS8 patients manifest prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. CSS8 inheritance is autosomal dominant.

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 eye and bone, and related phenotypes are scoliosis and delayed speech and language development

OMIM : 56 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)

Related Diseases for Coffin-Siris Syndrome 8

Symptoms & Phenotypes for Coffin-Siris Syndrome 8

Human phenotypes related to Coffin-Siris Syndrome 8:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 delayed speech and language development 31 very rare (1%) HP:0000750
3 eczema 31 very rare (1%) HP:0000964
4 seizures 31 HP:0001250
5 failure to thrive 31 HP:0001508
6 sleep disturbance 31 HP:0002360
7 ptosis 31 HP:0000508
8 self-injurious behavior 31 HP:0100716
9 anteverted nares 31 HP:0000463
10 thick eyebrow 31 HP:0000574
11 hyperactivity 31 HP:0000752
12 generalized hypotonia 31 HP:0001290
13 thick lower lip vermilion 31 HP:0000179
14 thin upper lip vermilion 31 HP:0000219
15 aggressive behavior 31 HP:0000718
16 poor suck 31 HP:0002033
17 sparse scalp hair 31 HP:0002209
18 long eyelashes 31 HP:0000527

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
hyperactivity
sleep disturbances
aggression
behavioral abnormalities
more
Head And Neck Nose:
anteverted nares
upturned nose

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)

Head And Neck Eyes:
ptosis
long eyelashes
thick eyebrows

Abdomen Gastrointestinal:
feeding difficulties
poor suck

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

Genetic tests related to Coffin-Siris Syndrome 8:

# Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 8 29 SMARCC2

Anatomical Context for Coffin-Siris Syndrome 8

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

40
Eye, Bone

Publications for Coffin-Siris Syndrome 8

Articles related to Coffin-Siris Syndrome 8:

# Title Authors PMID Year
1
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 56 6
30580808 2019
2
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. 56 6
27620904 2017
3
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 56 6
25590979 2015
4
Candidate genes on murine chromosome 8 are associated with susceptibility to Staphylococcus aureus infection in mice and are involved with Staphylococcus aureus septicemia in humans. 61
28594911 2017

Variations for Coffin-Siris Syndrome 8

ClinVar genetic disease variations for Coffin-Siris Syndrome 8:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCC2 NM_001330288.2(SMARCC2):c.1926+2T>CSNV Pathogenic 623247 rs1565903353 12:56566210-56566210 12:56172426-56172426
2 SMARCC2 NM_001330288.2(SMARCC2):c.1311-3C>GSNV Pathogenic 623248 rs1206884190 12:56571880-56571880 12:56178096-56178096
3 SMARCC2 NM_001330288.2(SMARCC2):c.1922T>C (p.Leu641Pro)SNV Pathogenic 623249 rs1565903367 12:56566216-56566216 12:56172432-56172432
4 SMARCC2 NM_001330288.2(SMARCC2):c.723G>A (p.Trp241Ter)SNV Pathogenic 623250 rs1565917836 12:56575605-56575605 12:56181821-56181821
5 SMARCC2 NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)SNV Pathogenic 623251 rs1565896447 12:56561915-56561915 12:56168131-56168131
6 SMARCC2 NM_001330288.2(SMARCC2):c.385A>G (p.Lys129Glu)SNV Likely pathogenic 807690 12:56578828-56578828 12:56185044-56185044

UniProtKB/Swiss-Prot genetic disease variations for Coffin-Siris Syndrome 8:

73
# Symbol AA change Variation ID SNP ID
1 SMARCC2 p.Asn134Asp VAR_082077
2 SMARCC2 p.Leu609Pro VAR_082079
3 SMARCC2 p.Leu610Pro VAR_082080
4 SMARCC2 p.Leu613Pro VAR_082081

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
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
Content
Loading form....