MCID: CFF006
MIFTS: 21

Coffin-Siris Syndrome 5

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

Aliases & Classifications for Coffin-Siris Syndrome 5

MalaCards integrated aliases for Coffin-Siris Syndrome 5:

Name: Coffin-Siris Syndrome 5 57 75 29 6
Css5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
coffin-siris syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 5

OMIM : 57 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 wide mouth and thick lower lip vermilion

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
cerebellar hypoplasia
dandy-walker malformation
hypoplasia of the corpus callosum
delayed psychomotor development
more
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

Head And Neck Face:
coarse facial features

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

Human phenotypes related to Coffin-Siris Syndrome 5:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 wide mouth 32 HP:0000154
2 thick lower lip vermilion 32 HP:0000179
3 thin upper lip vermilion 32 HP:0000219
4 microcephaly 32 HP:0000252
5 coarse facial features 32 HP:0000280
6 low anterior hairline 32 HP:0000294
7 short philtrum 32 HP:0000322
8 wide nose 32 HP:0000445
9 ptosis 32 HP:0000508
10 long eyelashes 32 HP:0000527
11 thick eyebrow 32 HP:0000574
12 arachnodactyly 32 HP:0001166
13 intellectual disability 32 HP:0001249
14 seizures 32 occasional (7.5%) HP:0001250
15 global developmental delay 32 HP:0001263
16 dandy-walker malformation 32 HP:0001305
17 cerebellar hypoplasia 32 HP:0001321
18 absent speech 32 HP:0001344
19 intrauterine growth retardation 32 HP:0001511
20 atrial septal defect 32 HP:0001631
21 hypoplastic toenails 32 HP:0001800
22 dystrophic toenail 32 HP:0001810
23 sandal gap 32 HP:0001852
24 hypoplasia of the corpus callosum 32 HP:0002079
25 sparse scalp hair 32 HP:0002209
26 recurrent infections 32 HP:0002719
27 short stature 32 HP:0004322
28 depressed nasal bridge 32 HP:0005280
29 short distal phalanx of finger 32 HP:0009882
30 thick nasal alae 32 HP:0009928
31 feeding difficulties 32 HP:0011968

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:

41
Heart

Publications for Coffin-Siris Syndrome 5

Variations for Coffin-Siris Syndrome 5

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

75
# Symbol AA change Variation ID SNP ID
1 SMARCE1 p.Tyr73Cys VAR_068215 rs387906857
2 SMARCE1 p.Tyr73Ser VAR_076932 rs387906857

ClinVar genetic disease variations for Coffin-Siris Syndrome 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCE1 NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Likely pathogenic rs387906857 GRCh37 Chromosome 17, 38793763: 38793763
2 SMARCE1 NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys) single nucleotide variant Likely pathogenic rs387906857 GRCh38 Chromosome 17, 40637511: 40637511
3 SMARCE1 NM_003079.4(SMARCE1): c.218A> C (p.Tyr73Ser) single nucleotide variant Pathogenic rs387906857 GRCh37 Chromosome 17, 38793763: 38793763
4 SMARCE1 NM_003079.4(SMARCE1): c.218A> C (p.Tyr73Ser) single nucleotide variant Pathogenic rs387906857 GRCh38 Chromosome 17, 40637511: 40637511

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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