CSS
MCID: CFF001
MIFTS: 58

Coffin-Siris Syndrome (CSS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Mental diseases categories

Summaries for Coffin-Siris Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 BRCA1 Pathway and Regulation of retinoblastoma protein. Affiliated tissues include kidney, testes and bone, and related mouse phenotypes are vision/eye and hematopoietic system.

Disease Ontology:9 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.

Description from OMIM:48 135900, 614562, 614607, 614608, 614609 615866 more

GeneReviews summary for coffin-siris

Aliases & Classifications for Coffin-Siris Syndrome

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
coffin-siris syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

coffin-siris syndrome 9 10 20 44 21 23 22 48 11 50 63
fifth digit syndrome 9 20 44 22
dwarfism-onychodysplasia 9 22
intellectual disability with absent fifth fingernail and terminal phalanx 44
mental retardation with hypoplastic fifth fingernails and toenails 22
short stature-onychodysplasia. 9
short stature-onychodysplasia 22
css 50


External Ids:

Disease Ontology9 DOID:1925
NCIt41 C35321
MeSH36 C536436
SNOMED-CT59 10007009
MESH via Orphanet37 C536436
ICD10 via Orphanet27 Q87.1
SNOMED-CT via Orphanet60 10007009
UMLS via Orphanet64 C0265338

Related Diseases for Coffin-Siris Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Coffin-Siris Syndrome:



Diseases related to coffin-siris syndrome

Symptoms for Coffin-Siris Syndrome

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48OMIM, 50Orphanet
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Clinical features from OMIM:

135900,614562,614607,614608,614609,615866

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Coffin-Siris Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Coffin-Siris Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Siris Syndrome21 23 SMARCE1

Anatomical Context for Coffin-Siris Syndrome

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34MalaCards
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MalaCards organs/tissues related to Coffin-Siris Syndrome:

34
Kidney, Testes, Bone, Skin, Cerebellum, Pituitary

Animal Models for Coffin-Siris Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Coffin-Siris Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5ARID1A, BTD, SOX11, SMARCB1
2MP:00053978.4SMARCB1, SMARCA4, LAX1, SOX11, ARID1A
3MP:00053878.2SMARCB1, SMARCA4, SMARCE1, LAX1, SOX11
4MP:00053908.1BTD, WNT16, FAM3C, SOX11

Publications for Coffin-Siris Syndrome

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53PubMed
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Articles related to Coffin-Siris Syndrome:

(show top 50)    (show all 51)
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
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. (23300646)
2012
8
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. (21452752)
2011
9
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. (21059198)
2010
10
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. (20624500)
2010
11
Neuroblastoma in a patient with Coffin-Siris syndrome. (19842870)
2009
12
Is this the Coffin-Siris syndrome or the BOD syndrome? (19215055)
2009
13
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
14
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
15
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
16
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
17
Anesthetic management in a child with Coffin-Siris syndrome. (15283836)
2004
18
Premature thelarche in Coffin-Siris syndrome. (12910500)
2003
19
Dandy-Walker variant in Coffin-Siris syndrome. (11298377)
2001
20
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. (11170086)
2001
21
Difficult airway in a patient with Coffin-Siris syndrome. (11159267)
2001
22
Candidate region for Coffin-Siris syndrome at 7q32--&gt;34. (10925390)
2000
23
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
24
Diaphragmatic hernia in the Coffin-Siris syndrome. (9555587)
1998
25
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. (9286450)
1997
26
Variant of Coffin-Siris syndrome or previously undescribed syndrome? (8870924)
1996
27
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. (8942018)
1996
28
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. (8591667)
1995
29
Hypoglycemia in Coffin-Siris syndrome. (8849011)
1995
30
Coffin-Siris Syndrome (23556151)
1993
31
Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. (1493645)
1992
32
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. (1724113)
1991
33
Coffin-Siris syndrome. (1865473)
1991
34
Coffin-Siris syndrome with normal plasma biotinidase activity. (1915529)
1991
35
The Coffin-Siris syndrome. (2352263)
1990
36
Partial biotinidase deficiency associated with Coffin-Siris syndrome. (2373113)
1990
37
Medulloblastoma in association with the Coffin-Siris syndrome. (2456854)
1988
38
12;14 translocation in Coffin Siris syndrome. (2824376)
1987
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
The Coffin-Siris syndrome. A report of four cases and review of the literature. (7019832)
1981
45
The Coffin-Siris syndrome: a case report. (7192700)
1980
46
Coffin-Siris syndrome. (717300)
1978
47
The Coffin-Siris syndrome. (665590)
1978
48
The Coffin-Siris syndrome: five new cases including two siblings. (665592)
1978
49
Partial trisomy 9 with resemblance to Coffin-Siris syndrome. (933124)
1976
50
Coffin-Siris syndrome. Two new cases. (4708277)
1973

Variations for Coffin-Siris Syndrome

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Expression for genes affiliated with Coffin-Siris Syndrome

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2BioGPS, 16Gene 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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51PathCards, 54QIAGEN, 39NCBI BioSystems Database, 5Cell Signaling Technology, 31KEGG, 61Thomson Reuters
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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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17Gene Ontology
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Cellular components related to Coffin-Siris Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromatinGO:0007909.8ARID1A, SMARCA4
2nuclear chromosomeGO:0002289.5SMARCE1, SMARCB1
3npBAF complexGO:0715649.2SMARCB1, SMARCA4, SMARCE1, ARID1A
4nBAF complexGO:0715659.1SMARCB1, SMARCA4, SMARCE1, ARID1A
5SWI/SNF complexGO:0165148.8ARID1B, ARID1A, SMARCE1, SMARCA4, SMARCB1
6nucleolusGO:0057307.8SMARCB1, SMARCA4, SMARCE1, BTD, ARID1A, ARID1B

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent chromatin remodelingGO:04304410.0ARID1A, SMARCB1
2blastocyst hatchingGO:00183510.0SMARCA4, SMARCB1
3chromatin-mediated maintenance of transcriptionGO:04809610.0ARID1B, ARID1A
4positive regulation by host of viral transcriptionGO:04392310.0SMARCB1, SMARCA4
5optic cup formation involved in camera-type eye developmentGO:0034089.9ARID1A, WNT16
6forebrain developmentGO:0309009.8ARID1A, SMARCA4
7keratinocyte differentiationGO:0302169.7WNT16, SMARCA4
8negative regulation of cell deathGO:0605489.7WNT16, SOX11
9nervous system developmentGO:0073999.6SMARCB1, SMARCE1, ARID1B
10neuron differentiationGO:0301829.5SOX11, WNT16
11positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.5SMARCA4, SMARCB1
12nucleosome disassemblyGO:0063379.4ARID1A, SMARCE1, SMARCA4, SMARCB1
13chromatin remodelingGO:0063389.4SMARCB1, SMARCA4, SMARCE1, ARID1A
14regulation of transcription from RNA polymerase II promoterGO:0063579.4SMARCB1, SMARCA4, SMARCE1, ARID1A
15negative regulation of transcription from RNA polymerase II promoterGO:0001229.3ARID1A, SOX11, SMARCA4
16positive regulation of transcription, DNA-templatedGO:0458939.2ARID1A, SOX11, SMARCA4

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

idNameGO IDScoreTop Affiliating Genes
1ligand-dependent nuclear receptor bindingGO:0169229.9SMARCE1, ARID1A
2Tat protein bindingGO:0309579.8SMARCA4, SMARCB1
3protein N-terminus bindingGO:0474859.8SMARCE1, SMARCA4
4RNA polymerase II transcription coactivator activityGO:0011059.5SOX11, SMARCA4
5p53 bindingGO:0020399.5SMARCA4, SMARCB1
6transcription coactivator activityGO:0037138.8ARID1B, ARID1A, SMARCE1, SMARCA4, SMARCB1

Products for genes affiliated with Coffin-Siris Syndrome

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14ExPASy
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26ICD10
27ICD10 via Orphanet
28ICD9CM
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45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
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60SNOMED-CT via Orphanet
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