CSS
MCID: CFF001
MIFTS: 59

Coffin-Siris Syndrome (CSS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Mental diseases categories
Download this MalaCard

Summaries for Coffin-Siris Syndrome

About this section


Fully expand this MalaCard
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 based summary: Coffin-Siris Syndrome, also known as fifth digit syndrome, is related to obesity 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 BRCA1 Pathway. Affiliated tissues include kidney, bone and testes, and related mouse phenotypes are vision/eye and hematopoietic system.

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.

Descriptions from OMIM:46 135900, 614562, 614607, 614608, 614609 615866 more

GeneReviews summary for coffin-siris

Aliases & Classifications for Coffin-Siris Syndrome

About this section
Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Coffin-Siris Syndrome, Aliases & Descriptions:

Name: Coffin-Siris Syndrome 8 9 19 42 20 22 21 46 10 48 62
Fifth Digit Syndrome 8 19 42 21
Dwarfism-Onychodysplasia 8 21
Css 48 62
 
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:1925
NCIt39 C35321
MeSH34 C536436
SNOMED-CT57 10007009
MESH via Orphanet35 C536436
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0265338

Related Diseases for Coffin-Siris Syndrome

About this section

Graphical network of the top 20 diseases related to Coffin-Siris Syndrome:



Diseases related to coffin-siris syndrome

Symptoms for Coffin-Siris Syndrome

About this section


Clinical features from OMIM:

135900,614562,614607,614608,614609,615866

Symptoms:

48 (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

HPO human phenotypes related to Coffin-Siris Syndrome:

(show all 49)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 thick lower lip vermilion hallmark (90%) HP:0000179
3 microcephaly hallmark (90%) HP:0000252
4 coarse facial features hallmark (90%) HP:0000280
5 abnormality of the eyelashes hallmark (90%) HP:0000499
6 thick eyebrow hallmark (90%) HP:0000574
7 hypertrichosis hallmark (90%) HP:0000998
8 muscular hypotonia hallmark (90%) HP:0001252
9 anonychia hallmark (90%) HP:0001798
10 slow-growing hair hallmark (90%) HP:0002217
11 short stature hallmark (90%) HP:0004322
12 feeding difficulties in infancy hallmark (90%) HP:0008872
13 short distal phalanx of finger hallmark (90%) HP:0009882
14 cognitive impairment hallmark (90%) HP:0100543
15 cryptorchidism typical (50%) HP:0000028
16 wide mouth typical (50%) HP:0000154
17 hearing impairment typical (50%) HP:0000365
18 depressed nasal ridge typical (50%) HP:0000457
19 strabismus typical (50%) HP:0000486
20 nystagmus typical (50%) HP:0000639
21 seizures typical (50%) HP:0001250
22 dandy-walker malformation typical (50%) HP:0001305
23 joint hypermobility typical (50%) HP:0001382
24 intrauterine growth retardation typical (50%) HP:0001511
25 recurrent respiratory infections typical (50%) HP:0002205
26 malformation of the heart and great vessels typical (50%) HP:0002564
27 scoliosis typical (50%) HP:0002650
28 elbow dislocation typical (50%) HP:0003042
29 depressed nasal bridge typical (50%) HP:0005280
30 patellar aplasia typical (50%) HP:0006443
31 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
32 cleft palate occasional (7.5%) HP:0000175
33 epicanthus occasional (7.5%) HP:0000286
34 short philtrum occasional (7.5%) HP:0000322
35 ptosis occasional (7.5%) HP:0000508
36 cataract occasional (7.5%) HP:0000518
37 lacrimation abnormality occasional (7.5%) HP:0000632
38 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
39 abnormality of the clavicles occasional (7.5%) HP:0000889
40 single transverse palmar crease occasional (7.5%) HP:0000954
41 cutis marmorata occasional (7.5%) HP:0000965
42 kyphosis occasional (7.5%) HP:0002808
43 abnormality of the hip bone occasional (7.5%) HP:0003272
44 spina bifida occulta occasional (7.5%) HP:0003298
45 abnormality of the intervertebral disk occasional (7.5%) HP:0005108
46 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
47 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
48 aplastic/hypoplastic toenail occasional (7.5%) HP:0010624
49 abnormal localization of kidney occasional (7.5%) HP:0100542

Drugs & Therapeutics for Coffin-Siris Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Coffin-Siris Syndrome

Search NIH Clinical Center for Coffin-Siris Syndrome

Genetic Tests for Coffin-Siris Syndrome

About this section

Genetic tests related to Coffin-Siris Syndrome:

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

Anatomical Context for Coffin-Siris Syndrome

About this section

MalaCards organs/tissues related to Coffin-Siris Syndrome:

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

Animal Models for Coffin-Siris Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Coffin-Siris Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6BTD, SMARCB1, SOX11, ARID1A
2MP:00053978.4ARID1A, SMARCB1, SOX11, LAX1, SMARCA4
3MP:00053878.1SMARCB1, SMARCA4, SMARCE1, LAX1, SOX11
4MP:00053908.1SOX11, FAM3C, WNT16, BTD

Publications for Coffin-Siris Syndrome

About this section

Articles related to Coffin-Siris Syndrome:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. (25298701)
2014
2
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. (25099957)
2014
3
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. (24700502)
2014
4
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. (25168959)
2014
5
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. (24569609)
2014
6
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. (25169651)
2014
7
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. (25081545)
2014
8
De novo SOX11 mutations cause Coffin-Siris syndrome. (24886874)
2014
9
Coffin-Siris syndrome is a SWI/SNF complex disorder. (23815551)
2013
10
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
11
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. (23929686)
2013
12
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (22426308)
2012
13
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. (21452752)
2011
14
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. (21059198)
2010
15
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. (20624500)
2010
16
Neuroblastoma in a patient with Coffin-Siris syndrome. (19842870)
2009
17
Is this the Coffin-Siris syndrome or the BOD syndrome? (19215055)
2009
18
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
19
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
20
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
21
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
22
Anesthetic management in a child with Coffin-Siris syndrome. (15283836)
2004
23
Dandy-Walker variant in Coffin-Siris syndrome. (11298377)
2001
24
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. (11170086)
2001
25
Difficult airway in a patient with Coffin-Siris syndrome. (11159267)
2001
26
Candidate region for Coffin-Siris syndrome at 7q32--&gt;34. (10925390)
2000
27
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
28
Diaphragmatic hernia in the Coffin-Siris syndrome. (9555587)
1998
29
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. (9286450)
1997
30
Variant of Coffin-Siris syndrome or previously undescribed syndrome? (8870924)
1996
31
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. (8942018)
1996
32
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. (8591667)
1995
33
Hypoglycemia in Coffin-Siris syndrome. (8849011)
1995
34
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. (1724113)
1991
35
Coffin-Siris syndrome. (1865473)
1991
36
The Coffin-Siris syndrome. (2352263)
1990
37
Medulloblastoma in association with the Coffin-Siris syndrome. (2456854)
1988
38
12;14 translocation in Coffin Siris syndrome. (2824376)
1987
39
Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome. (3537244)
1986
40
The Coffin-Siris syndrome in two siblings. (3725452)
1986
41
Ocular anomalies in Coffin-Siris syndrome. (4069596)
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
Coffin-Siris syndrome. (717300)
1978
48
The Coffin-Siris syndrome. (665590)
1978
49
The Coffin-Siris syndrome: five new cases including two siblings. (665592)
1978
50
Partial trisomy 9 with resemblance to Coffin-Siris syndrome. (933124)
1976

Variations for Coffin-Siris Syndrome

About this section

Clinvar genetic disease variations for Coffin-Siris Syndrome:

6 (show all 22)
id Gene Name Type Significance SNP ID Assembly Location
1SMARCB1SMARCB1, LYS364DELdeletionPathogenic
2SMARCB1NM_003073.3(SMARCB1): c.1130G> A (p.Arg377His)single nucleotide variantPathogenicrs387906812GRCh37Chr 22, 24176339: 24176339
3ARID1AARID1A, 31_56DELdeletionPathogenic
4ARID1ANM_006015.4(ARID1A): c.2758C> T (p.Gln920Ter)single nucleotide variantPathogenicrs387906845GRCh37Chr 1, 27092737: 27092737
5ARID1ANM_006015.4(ARID1A): c.4003C> T (p.Arg1335Ter)single nucleotide variantPathogenicrs387906846GRCh37Chr 1, 27100207: 27100207
6SMARCA4SMARCA4, LYS546DELdeletionPathogenic
7SMARCA4NM_001128844.1(SMARCA4): c.2576C> T (p.Thr859Met)single nucleotide variantPathogenicrs281875226GRCh37Chr 19, 11130337: 11130337
8SMARCA4NM_001128844.1(SMARCA4): c.2653C> T (p.Arg885Cys)single nucleotide variantPathogenicrs281875227GRCh37Chr 19, 11132437: 11132437
9SMARCA4NM_001128844.1(SMARCA4): c.2761C> T (p.Leu921Phe)single nucleotide variantPathogenicrs281875228GRCh37Chr 19, 11132545: 11132545
10SMARCA4NM_001128844.1(SMARCA4): c.3032T> C (p.Met1011Thr)single nucleotide variantPathogenicrs281875229GRCh37Chr 19, 11135065: 11135065
11SMARCA4NM_001128844.1(SMARCA4): c.3469C> G (p.Arg1157Gly)single nucleotide variantPathogenicrs281875230GRCh37Chr 19, 11141492: 11141492
12ARID1BNM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter)single nucleotide variantPathogenicrs387907140GRCh37Chr 6, 157517355: 157517355
13ARID1BARID1B, 11-BP DEL, NT6463deletionPathogenic
14ARID1BNM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter)single nucleotide variantPathogenicrs387907141GRCh37Chr 6, 157502271: 157502271
15ARID1BARID1B, 2-BP DEL, 3323AAdeletionPathogenic
16ARID1BARID1B, TYR1346TERsingle nucleotide variantPathogenic
17ARID1BNM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter)single nucleotide variantPathogenicrs387907142GRCh37Chr 6, 157222636: 157222636
18ARID1BARID1B, 1-BP DEL, 5632GdeletionPathogenic
19ARID1BNM_020732.3(ARID1B): c.5329A> T (p.Lys1777Ter)single nucleotide variantPathogenicrs387907143GRCh37Chr 6, 157527604: 157527604
20ARID1BNM_020732.3(ARID1B): c.3223C> T (p.Arg1075Ter)single nucleotide variantPathogenicrs387907144GRCh37Chr 6, 157502190: 157502190
21ARID1BARID1B, 10-BP DEL, NT4619deletionPathogenic
22SMARCB1NM_003073.3(SMARCB1): c.110G> A (p.Arg37His)single nucleotide variantPathogenicrs398122368GRCh37Chr 22, 24133959: 24133959

Expression for genes affiliated with Coffin-Siris Syndrome

About this section
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

About this section

Compounds for genes affiliated with Coffin-Siris Syndrome

About this section

GO Terms for genes affiliated with Coffin-Siris Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nuclear chromatinGO:0007909.8SMARCA4, ARID1A
2nuclear chromosomeGO:0002289.4SMARCB1, SMARCE1
3npBAF complexGO:0715649.2SMARCA4, SMARCB1, ARID1A, SMARCE1
4nBAF complexGO:0715659.1ARID1A, SMARCE1, SMARCA4, SMARCB1
5SWI/SNF complexGO:0165148.8ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1
6nucleolusGO:0057307.8ARID1B, ARID1A, BTD, SMARCE1, SMARCA4, SMARCB1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent chromatin remodelingGO:04304410.1ARID1A, SMARCB1
2blastocyst hatchingGO:00183510.1SMARCA4, 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:0309009.9ARID1A, SMARCA4
7keratinocyte differentiationGO:0302169.7WNT16, SMARCA4
8negative regulation of cell deathGO:0605489.7WNT16, SOX11
9nervous system developmentGO:0073999.5SMARCB1, SMARCE1, ARID1B
10positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.5SMARCA4, SMARCB1
11neuron differentiationGO:0301829.5SOX11, WNT16
12nucleosome disassemblyGO:0063379.4ARID1A, SMARCE1, SMARCA4, SMARCB1
13chromatin remodelingGO:0063389.4SMARCB1, SMARCA4, SMARCE1, ARID1A
14negative regulation of transcription from RNA polymerase II promoterGO:0001229.4ARID1A, SOX11, SMARCA4
15regulation of transcription from RNA polymerase II promoterGO:0063579.4SMARCB1, SMARCA4, SMARCE1, ARID1A
16positive regulation of transcription, DNA-templatedGO:0458939.3ARID1A, SOX11, SMARCA4

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

idNameGO IDScoreTop Affiliating Genes
1Tat protein bindingGO:0309579.9SMARCB1, SMARCA4
2ligand-dependent nuclear receptor bindingGO:0169229.8SMARCE1, ARID1A
3protein N-terminus bindingGO:0474859.7SMARCE1, SMARCA4
4RNA polymerase II transcription coactivator activityGO:0011059.6SOX11, SMARCA4
5p53 bindingGO:0020399.5SMARCB1, SMARCA4
6transcription coactivator activityGO:0037138.8SMARCA4, ARID1B, ARID1A, SMARCE1, SMARCB1

Products for genes affiliated with Coffin-Siris Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Coffin-Siris Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet