CSS
MCID: CFF001
MIFTS: 54

Coffin-Siris Syndrome (CSS) malady

Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Coffin-Siris Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Coffin-siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. it can be caused by a change (mutation) in any of several genes including the arid1a, arid1b, smarca4, smarcb1, or smarce1 genes. coffin-siris syndrome is not usually inherited, but occurs for the first time in a family due to a new mutation. last updated: 10/7/2013

MalaCards: Coffin-Siris Syndrome, also known as fifth digit syndrome, is related to short stature, onychodysplasia, facial dysmorphism, and hypotrichosis and obesity, and has symptoms including defect/anomaly of lacrimal system, dandy-walker anomaly and simian crease/transverse/unique palmar crease. An important gene associated with Coffin-Siris Syndrome is SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1), and among its related pathways are Regulation of retinoblastoma protein and Regulation of Androgen receptor activity. Affiliated tissues include kidney, testes and bone.

Disease Ontology:8 A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability.

Genetics Home Reference:21 Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.

Description from OMIM:46 135900,614562,614607,614608,614609

GeneReviews summary for coffin-siris

Aliases & Classifications for Coffin-Siris Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
coffin-siris syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

coffin-siris syndrome 8 9 19 42 20 22 21 46 10 48 60
fifth digit syndrome 8 19 42 21
dwarfism-onychodysplasia 8 21
intellectual disability with absent fifth fingernail and terminal phalanx 42
mental retardation with hypoplastic fifth fingernails and toenails 21
short stature-onychodysplasia. 8
short stature-onychodysplasia 21
css 48


External Ids:

Disease Ontology8 DOID:1925
NCIt39 C35321
MeSH34 C536436
SNOMED-CT56 10007009
MESH via Orphanet35 C536436
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 10007009
UMLS via Orphanet61 C0265338

Related Diseases for Coffin-Siris Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Coffin-Siris Syndrome:



Diseases related to coffin-siris syndrome

Clinical Features for Coffin-Siris Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

135900,614562,614607,614608,614609

Symptoms:

48 (show all 54)
  • defect/anomaly of lacrimal system
  • dandy-walker anomaly
  • simian crease/transverse/unique palmar crease
  • diaphragmatic hernia/defect/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • short philtrum
  • macrostomia/big mouth
  • intrauterine growth retardation
  • flattened nose
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • dilated cerebral ventricles without hydrocephaly
  • absent/small fingernails/anonychia of hands
  • elbow dislocation
  • absent/small toenails/anonychia of feet
  • intervertebral disk anomaly
  • patella absent/abnormal (excluding luxation)
  • slow growth of the hair
  • cutis marmorata/marbled skin/livedo
  • clavicle absent/abnormal
  • long/thick/curved lashes/trichomegaly/polytrichia
  • terminal/third phalangeal bone of fingers hypoplasia
  • anomalies of spine, vertebrae and pelvis
  • spina bifida occulta
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • strabismus/squint
  • hearing loss/hypoacusia/deafness
  • depressed nasal bridge
  • cataract/lens opacification
  • coarse face
  • hypotonia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • kyphosis
  • ptosis
  • nystagmus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • scoliosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • repeat respiratory infections
  • hyperextensible joints/articular hyperlaxity
  • epicanthic folds
  • hirsutism/hypertrichosis/increased body hair
  • congenital cardiac anomaly/malformation/cardiopathy
  • herniae
  • ectopic/horseshoe/fused kidneys
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • microcephaly
  • short stature/dwarfism/nanism
  • thick/bushy eyebrows
  • anomalies of teeth and dentition
  • thick lips
  • broad nose/nasal bridge
  • corpus callosum/septum pellucidum total/partial agenesis

Drugs & Therapeutics for Coffin-Siris Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Coffin-Siris Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Coffin-Siris Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Siris Syndrome20 22 SMARCE1

Anatomical Context for Coffin-Siris Syndrome

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32MalaCards
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MalaCards organs/tissues related to Coffin-Siris Syndrome:

32
Kidney, Testes, Bone, Cerebellum, Skin, Pituitary

Animal Models for Coffin-Siris Syndrome or affiliated genes

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Publications for Coffin-Siris Syndrome

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50PubMed
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Articles related to Coffin-Siris Syndrome:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Coffin-Siris syndrome is a SWI/SNF complex disorder. (23815551)
2013
2
Correction: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome. (24039678)
2013
3
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. (23929686)
2013
4
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (22426309)
2012
5
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (22426308)
2012
6
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. (22711679)
2012
7
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. (21452752)
2011
8
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. (21059198)
2010
9
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. (20624500)
2010
10
Neuroblastoma in a patient with Coffin-Siris syndrome. (19842870)
2009
11
Is this the Coffin-Siris syndrome or the BOD syndrome? (19215055)
2009
12
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
13
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
14
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
15
Anesthetic management in a child with Coffin-Siris syndrome. (15283836)
2004
16
Premature thelarche in Coffin-Siris syndrome. (12910500)
2003
17
Dandy-Walker variant in Coffin-Siris syndrome. (11298377)
2001
18
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. (11170086)
2001
19
Difficult airway in a patient with Coffin-Siris syndrome. (11159267)
2001
20
Candidate region for Coffin-Siris syndrome at 7q32--&gt;34. (10925390)
2000
21
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
22
Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome? (10936989)
2000
23
Diaphragmatic hernia in the Coffin-Siris syndrome. (9555587)
1998
24
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. (9286450)
1997
25
Variant of Coffin-Siris syndrome or previously undescribed syndrome? (8870924)
1996
26
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. (8942018)
1996
27
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. (8591667)
1995
28
Hypoglycemia in Coffin-Siris syndrome. (8849011)
1995
29
Coffin-Siris Syndrome (23556151)
1993
30
Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. (1493645)
1992
31
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. (1724113)
1991
32
Coffin-Siris syndrome. (1865473)
1991
33
Coffin-Siris syndrome with normal plasma biotinidase activity. (1915529)
1991
34
The Coffin-Siris syndrome. (2352263)
1990
35
Partial biotinidase deficiency associated with Coffin-Siris syndrome. (2373113)
1990
36
Medulloblastoma in association with the Coffin-Siris syndrome. (2456854)
1988
37
12;14 translocation in Coffin Siris syndrome. (2824376)
1987
38
Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome. (3537244)
1986
39
The Coffin-Siris syndrome in two siblings. (3725452)
1986
40
Ocular anomalies in Coffin-Siris syndrome. (4069596)
1985
41
Coffin-Siris syndrome. Neuropathologic findings. (3985811)
1985
42
The Coffin-Siris syndrome: report of a family and further delineation. (6499251)
1984
43
Childhood Autism in a female with Coffin Siris Syndrome. (7153373)
1982
44
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. (7294058)
1981
45
The Coffin-Siris syndrome. A report of four cases and review of the literature. (7019832)
1981
46
The Coffin-Siris syndrome: a case report. (7192700)
1980
47
The Coffin-Siris syndrome. (155976)
1979
48
Coffin-Siris syndrome. (717300)
1978
49
Partial trisomy 9 with resemblance to Coffin-Siris syndrome. (933124)
1976
50
Coffin-Siris syndrome. Two new cases. (4708277)
1973

Genetic Variations for Coffin-Siris Syndrome

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Expression for genes affiliated with Coffin-Siris Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Coffin-Siris Syndrome

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Pathways for genes affiliated with Coffin-Siris Syndrome

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37NCBI BioSystems Database, 51QIAGEN, 4Cell Signaling Technology, 12EMD Millipore
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Compounds for genes affiliated with Coffin-Siris Syndrome

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GO Terms for genes affiliated with Coffin-Siris Syndrome

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16Gene Ontology
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Cellular components related to Coffin-Siris Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosomeGO:0002289.8SMARCE1, SMARCB1
2WINAC complexGO:0717789.7SMARCA4, SMARCA2
3nuclear chromatinGO:0007909.1SMARCA4, SMARCA2, ARID1A
4npBAF complexGO:0715648.8ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
5nBAF complexGO:0715658.7ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCE1
6SWI/SNF complexGO:0165148.4SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, ARID1A
7nucleolusGO:0057307.9ARID1A, ARID1B, BTD, SMARCA2, SMARCB1, SMARCE1

Biological processes related to Coffin-Siris Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1blastocyst hatchingGO:0018359.8SMARCB1, SMARCA4
2aortic smooth muscle cell differentiationGO:0358879.7SMARCA4, SMARCA2
3chromatin-mediated maintenance of transcriptionGO:0480969.6ARID1A, ARID1B
4keratinocyte differentiationGO:0302169.6SMARCA4, WNT16
5positive regulation by host of viral transcriptionGO:0439239.5SMARCB1, SMARCA4
6nucleosome disassemblyGO:0063379.3ARID1A, SMARCA4, SMARCB1, SMARCE1
7chromatin remodelingGO:0063388.9SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1A
8regulation of transcription from RNA polymerase II promoterGO:0063578.8SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1A
9nervous system developmentGO:0073998.7ARID1A, ARID1B, SMARCA2, SMARCB1, SMARCE1

Molecular functions related to Coffin-Siris Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ligand-dependent nuclear receptor bindingGO:0169229.9ARID1A, SMARCE1
2Tat protein bindingGO:0309579.9SMARCB1, SMARCA4
3p53 bindingGO:0020399.8SMARCB1, SMARCA4
4RNA polymerase II transcription coactivator activityGO:0011059.7SMARCA4, SMARCA2
5DNA-dependent ATPase activityGO:0080949.6SMARCA4, SMARCA2
6helicase activityGO:0043869.4SMARCA4, SMARCA2
7transcription coactivator activityGO:0037138.4SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, ARID1A

Products for genes affiliated with Coffin-Siris Syndrome

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Sources for Coffin-Siris Syndrome

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3CDC
13ExPASy
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25ICD10
26ICD10 via Orphanet
27ICD9CM
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47OMIM via Orphanet
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57SNOMED-CT via Orphanet
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