CSS5
MCID: CFF006
MIFTS: 24

Coffin-Siris Syndrome 5 (CSS5)

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

Aliases & Classifications for Coffin-Siris Syndrome 5

MalaCards integrated aliases for Coffin-Siris Syndrome 5:

Name: Coffin-Siris Syndrome 5 56 73 29 6
Css5 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated patients have been reported (last curated may 2016)


HPO:

31
coffin-siris syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 5

OMIM : 56 Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (616938)

MalaCards based summary : Coffin-Siris Syndrome 5, is also known as css5. An important gene associated with Coffin-Siris Syndrome 5 is SMARCE1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1). Affiliated tissues include heart, and related phenotypes are seizure and coarse facial features

UniProtKB/Swiss-Prot : 73 Coffin-Siris syndrome 5: 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. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

Related Diseases for Coffin-Siris Syndrome 5

Symptoms & Phenotypes for Coffin-Siris Syndrome 5

Human phenotypes related to Coffin-Siris Syndrome 5:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 coarse facial features 31 HP:0000280
3 intellectual disability 31 HP:0001249
4 global developmental delay 31 HP:0001263
5 depressed nasal bridge 31 HP:0005280
6 microcephaly 31 HP:0000252
7 thick eyebrow 31 HP:0000574
8 short stature 31 HP:0004322
9 feeding difficulties 31 HP:0011968
10 thick lower lip vermilion 31 HP:0000179
11 thick nasal alae 31 HP:0009928
12 absent speech 31 HP:0001344
13 intrauterine growth retardation 31 HP:0001511
14 hypoplastic toenails 31 HP:0001800
15 ptosis 31 HP:0000508
16 atrial septal defect 31 HP:0001631
17 wide mouth 31 HP:0000154
18 arachnodactyly 31 HP:0001166
19 sandal gap 31 HP:0001852
20 dandy-walker malformation 31 HP:0001305
21 thin upper lip vermilion 31 HP:0000219
22 sparse scalp hair 31 HP:0002209
23 low anterior hairline 31 HP:0000294
24 short philtrum 31 HP:0000322
25 short distal phalanx of finger 31 HP:0009882
26 cerebellar hypoplasia 31 HP:0001321
27 wide nose 31 HP:0000445
28 long eyelashes 31 HP:0000527
29 hypoplasia of the corpus callosum 31 HP:0002079
30 dystrophic toenail 31 HP:0001810
31 recurrent infections 31 HP:0002719

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
coarse facial features

Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation
poor overall growth

Cardiovascular Heart:
atrial septal defect
congenital heart defect

Head And Neck Eyes:
long eyelashes
thick eyebrows

Head And Neck Mouth:
large mouth
thin upper vermilion
thick lower vermilion

Skeletal Hands:
long, slender fingers
hypoplasia of the distal phalanges

Head And Neck Ears:
abnormal ears

Neurologic Central Nervous System:
intellectual disability
dandy-walker malformation
cerebellar hypoplasia
hypoplasia of the corpus callosum
delayed psychomotor development
more
Growth Height:
short stature

Skin Nails Hair Nails:
hypoplastic toenails
dystrophic toenails

Skin Nails Hair Hair:
sparse scalp hair
low frontal hairline

Head And Neck Nose:
broad nose
flat nasal bridge
thick anteverted alae nasi

Abdomen Gastrointestinal:
poor feeding

Skeletal Feet:
hypoplasia of the distal phalanges

Clinical features from OMIM:

616938

Drugs & Therapeutics for Coffin-Siris Syndrome 5

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 5

Genetic Tests for Coffin-Siris Syndrome 5

Genetic tests related to Coffin-Siris Syndrome 5:

# Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 5 29 SMARCE1

Anatomical Context for Coffin-Siris Syndrome 5

MalaCards organs/tissues related to Coffin-Siris Syndrome 5:

40
Heart

Publications for Coffin-Siris Syndrome 5

Articles related to Coffin-Siris Syndrome 5:

# Title Authors PMID Year
1
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 6 56
23906836 2013
2
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 6 56
22426308 2012
3
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 56
25168959 2014

Variations for Coffin-Siris Syndrome 5

ClinVar genetic disease variations for Coffin-Siris Syndrome 5:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCE1 NM_003079.5(SMARCE1):c.237+1G>TSNV Pathogenic 666261 17:38793743-38793743 17:40637491-40637491
2 SMARCE1 NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser)SNV Pathogenic 225845 rs387906857 17:38793763-38793763 17:40637511-40637511
3 SMARCE1 NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)SNV Likely pathogenic 30316 rs387906857 17:38793763-38793763 17:40637511-40637511
4 SMARCE1 NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)SNV Likely pathogenic 559876 rs1555605795 17:38792740-38792740 17:40636488-40636488
5 SMARCE1 NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)SNV Uncertain significance 407070 rs542193901 17:38787893-38787893 17:40631641-40631641

UniProtKB/Swiss-Prot genetic disease variations for Coffin-Siris Syndrome 5:

73
# Symbol AA change Variation ID SNP ID
1 SMARCE1 p.Tyr73Cys VAR_068215 rs387906857
2 SMARCE1 p.Tyr73Ser VAR_076932 rs387906857

Expression for Coffin-Siris Syndrome 5

Search GEO for disease gene expression data for Coffin-Siris Syndrome 5.

Pathways for Coffin-Siris Syndrome 5

GO Terms for Coffin-Siris Syndrome 5

Sources for Coffin-Siris Syndrome 5

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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