CSS8
MCID: CFF013
MIFTS: 21

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 57 74 29 6
Css8 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
coffin-siris syndrome 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Summaries for Coffin-Siris Syndrome 8

UniProtKB/Swiss-Prot : 74 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). Related phenotypes are scoliosis and delayed speech and language development

OMIM : 57 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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 very rare (1%) HP:0002650
2 delayed speech and language development 32 very rare (1%) HP:0000750
3 eczema 32 very rare (1%) HP:0000964
4 ptosis 32 HP:0000508
5 seizures 32 HP:0001250
6 failure to thrive 32 HP:0001508
7 sleep disturbance 32 HP:0002360
8 self-injurious behavior 32 HP:0100716
9 anteverted nares 32 HP:0000463
10 thick eyebrow 32 HP:0000574
11 hyperactivity 32 HP:0000752
12 generalized hypotonia 32 HP:0001290
13 thick lower lip vermilion 32 HP:0000179
14 aggressive behavior 32 HP:0000718
15 thin upper lip vermilion 32 HP:0000219
16 sparse scalp hair 32 HP:0002209
17 long eyelashes 32 HP:0000527
18 poor suck 32 HP:0002033

Symptoms via clinical synopsis from OMIM:

57
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

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

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. 8 71
30580808 2019
2
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. 8 71
27620904 2017
3
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 8 71
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. 38
28594911 2017

Variations for Coffin-Siris Syndrome 8

ClinVar genetic disease variations for Coffin-Siris Syndrome 8:

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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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