MCID: CFF001
MIFTS: 47

Coffin-Siris Syndrome malady

Neuronal, Bone, Fetal categories

Summaries for Coffin-Siris Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 n syndrome and short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, and has symptoms including microcephaly, coarse face and thick/bushy eyebrows. An important gene associated with Coffin-Siris Syndrome is ARID1A (AT rich interactive domain 1A (SWI-like)), and among its related pathways are Regulation of retinoblastoma protein and Regulation of Androgen receptor activity. Affiliated tissues include kidney and pituitary.

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:47 135900,614562,614607,614608,614609

GeneReviews summary for coffin-siris

Aliases & Classifications for Coffin-Siris Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
coffin-siris syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

coffin-siris syndrome 8 9 19 43 20 22 21 47 10 49 61
fifth digit syndrome 8 19 43 21
dwarfism-onychodysplasia 8 21
intellectual disability with absent fifth fingernail and terminal phalanx 43
mental retardation with hypoplastic fifth fingernails and toenails 21
short stature-onychodysplasia. 8
short stature-onychodysplasia 21


External Ids:

Disease Ontology8 DOID:1925
NCIt40 C35321
MeSH35 C536436
SNOMED-CT57 10007009
MESH via Orphanet36 C536436
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 10007009
UMLS via Orphanet62 C0265338

Related Diseases for Coffin-Siris Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

135900,614562,614607,614608,614609

Symptoms:

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

Drugs & Therapeutics for Coffin-Siris Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Coffin-Siris Syndrome

Search CenterWatch for Coffin-Siris Syndrome

Genetic Tests for Coffin-Siris Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Coffin-Siris Syndrome:

33
Kidney, Pituitary

Animal Models for Coffin-Siris Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Coffin-Siris Syndrome

Sources:
51PubMed
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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
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
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
13
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
14
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
15
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
16
Anesthetic management in a child with Coffin-Siris syndrome. (15283836)
2004
17
Premature thelarche in Coffin-Siris syndrome. (12910500)
2003
18
Dandy-Walker variant in Coffin-Siris syndrome. (11298377)
2001
19
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. (11170086)
2001
20
Difficult airway in a patient with Coffin-Siris syndrome. (11159267)
2001
21
Candidate region for Coffin-Siris syndrome at 7q32--&gt;34. (10925390)
2000
22
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
23
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
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
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
Medulloblastoma in association with the Coffin-Siris syndrome. (2456854)
1988
36
12;14 translocation in Coffin Siris syndrome. (2824376)
1987
37
Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome. (3537244)
1986
38
The Coffin-Siris syndrome in two siblings. (3725452)
1986
39
Ocular anomalies in Coffin-Siris syndrome. (4069596)
1985
40
Coffin-Siris syndrome. Neuropathologic findings. (3985811)
1985
41
The Coffin-Siris syndrome: report of a family and further delineation. (6499251)
1984
42
Childhood Autism in a female with Coffin Siris Syndrome. (7153373)
1982
43
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. (7294058)
1981
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
The Coffin-Siris syndrome. (155976)
1979
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

Genetic Variations for Coffin-Siris Syndrome

Expression for genes affiliated with Coffin-Siris Syndrome

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

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

Pathways for genes affiliated with Coffin-Siris Syndrome

Sources:
38NCBI BioSystems Database, 52QIAGEN, 4Cell Signaling Technology, 12EMD Millipore
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Compounds for genes affiliated with Coffin-Siris Syndrome

GO Terms for genes affiliated with Coffin-Siris Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosomeGO:0002289.7SMARCE1, 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:0358879.8SMARCA4, SMARCA2
3chromatin-mediated maintenance of transcriptionGO:0480969.7ARID1A, 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:0063388.8SMARCE1, 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
1Tat protein bindingGO:0309579.9SMARCB1, SMARCA4
2ligand-dependent nuclear receptor bindingGO:0169229.8ARID1A, SMARCE1
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet