CSS1
MCID: CFF001
MIFTS: 51

Coffin-Siris Syndrome (CSS1) malady

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

Aliases & Classifications for Coffin-Siris Syndrome

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Aliases & Descriptions for Coffin-Siris Syndrome:

Name: Coffin-Siris Syndrome 52 11 23 48 24 25 54 70 27 12 39 13 68
Fifth Digit Syndrome 11 23 48 24 25 70
Mental Retardation, Autosomal Dominant 12 70 68
Dwarfism-Onychodysplasia 11 25
Css 54 70
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 48
 
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 25
Short Stature-Onychodysplasia. 11
Short Stature-Onychodysplasia 25
Coffin-Siris Syndrome 1 70
Mrd12 70
Css1 70

Characteristics:

Orphanet epidemiological data:

54
coffin-siris syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood

HPO:

64
coffin-siris syndrome:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: penetrance for coffin-siris syndrome appears to be complete...


Classifications:



External Ids:

OMIM52 135900
Disease Ontology11 DOID:1925
NCIt45 C35321
Orphanet54 ORPHA1465
SNOMED-CT62 10007009
MESH via Orphanet40 C536436
UMLS via Orphanet69 C0265338
ICD10 via Orphanet31 Q87.1
MedGen37 C0265338

Summaries for Coffin-Siris Syndrome

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OMIM:52 Coffin-Siris syndrome has been described as mental retardation associated with coarse facial features, hypertrichosis,... (135900) more...

MalaCards based summary: Coffin-Siris Syndrome, also known as fifth digit syndrome, is related to short stature, onychodysplasia, facial dysmorphism, and hypotrichosis and coffin-siris syndrome 5, and has symptoms including Array, Array and Array. An important gene associated with Coffin-Siris Syndrome is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways are Pathways Affected in Adenoid Cystic Carcinoma and BRCA1 Pathway. Affiliated tissues include bone, kidney and uterus, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Increased Nanog expression.

Disease Ontology:11 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:25 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.

NIH Rare Diseases:48 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 follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. occupational, physical, and/or speech therapy can help affected individuals reach their full potential. last updated: 1/5/2016

UniProtKB/Swiss-Prot:70 Coffin-Siris syndrome 1: 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.

GeneReviews for NBK131811

Related Diseases for Coffin-Siris Syndrome

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Diseases in the Coffin-Siris Syndrome family:

Arid1a-Related Coffin-Siris Syndrome Arid1b-Related Coffin-Siris Syndrome
Smarca4-Related Coffin-Siris Syndrome Smarcb1-Related Coffin-Siris Syndrome
Smarce1-Related Coffin-Siris Syndrome Coffin-Siris Syndrome 5

Diseases related to Coffin-Siris Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1short stature, onychodysplasia, facial dysmorphism, and hypotrichosis12.6
2coffin-siris syndrome 512.5
3arid1b-related coffin-siris syndrome12.2
4arid1a-related coffin-siris syndrome12.2
5mental retardation, autosomal dominant 1212.1
6smarca4-related coffin-siris syndrome12.1
7smarcb1-related coffin-siris syndrome12.1
8smarce1-related coffin-siris syndrome12.1
9mental retardation, autosomal dominant 1411.8
10mental retardation, autosomal dominant 1611.8
11mental retardation, autosomal dominant 1511.8
12brachymorphism-onychodysplasia-dysphalangism syndrome11.5
13eosinophilic granulomatosis with polyangiitis11.4
14churg-strauss syndrome11.2
15autoimmune lymphoproliferative syndrome11.0
16allergic angiitis10.8
17obesity10.3
18ectopic aldosterone-producing tumor10.3SMARCA4, SMARCB1
19alzheimer's disease 1310.2SMARCA2, SMARCA4
20mental retardation, autosomal recessive 1610.2ARID1B, SMARCA2
21cone dystrophy 410.2SMARCA2, SMARCA4
22kluver-bucy syndrome10.2SMARCA2, SMARCA4
233p- syndrome10.2SMARCA2, SMARCA4
24bacteremia10.2SMARCA4, SMARCB1
25hyperinsulinism10.2
26basal cell carcinoma10.2SMARCA2, SMARCA4
27infertility due to extratesticular cause10.1SMARCA2, SMARCA4
28surfactant metabolism dysfunction, pulmonary, 510.1SMARCB1, SMARCC2, SMARCE1
29neuroblastoma10.0
30medulloblastoma10.0
31biotinidase deficiency10.0
32coffin-lowry syndrome10.0
33door syndrome10.0
34epilepsy10.0
35pituitary hypoplasia10.0
36hypoglycemia10.0
37growth hormone deficiency10.0
38lymphangiosarcoma10.0ARID1A, BANF1
39hypotrichosis10.0
40asthma9.7
41silver-russell syndrome9.7
42sialadenitis9.7
43dermatitis9.7
44pneumonia9.7
45eosinophilic pneumonia9.7
46myositis9.7
47chronic eosinophilic pneumonia9.7
48cardiomyopathy9.7
49chronic actinic dermatitis9.7
50muscular dystrophy, limb-girdle, type 1f8.0ADAMTS6, ARID1A, ARID1B, BANF1, CMAS, DLX6-AS1

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



Diseases related to coffin-siris syndrome

Symptoms & Phenotypes for Coffin-Siris Syndrome

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Symptoms by clinical synopsis from OMIM:

135900

Clinical features from OMIM:

135900

Human phenotypes related to Coffin-Siris Syndrome:

 54 64 (show all 96)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Frequent (79-30%) HP:0000028
2 ectopic kidney64 54 Occasional (29-5%) HP:0000086
3 hydronephrosis64 54 Occasional (29-5%) HP:0000126
4 wide mouth64 54 Frequent (79-30%) HP:0000154
5 abnormality of the teeth64 54 Very frequent (99-80%) HP:0000164
6 cleft palate64 54 Occasional (29-5%) HP:0000175
7 thick lower lip vermilion64 54 Very frequent (99-80%) HP:0000179
8 microcephaly64 54 Very frequent (99-80%) HP:0000252
9 coarse facial features64 54 Very frequent (99-80%) HP:0000280
10 epicanthus64 54 Occasional (29-5%) HP:0000286
11 short philtrum64 54 Occasional (29-5%) HP:0000322
12 hearing impairment64 54 Frequent (79-30%) HP:0000365
13 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
14 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
15 strabismus64 54 Frequent (79-30%) HP:0000486
16 ptosis64 54 Occasional (29-5%) HP:0000508
17 cataract64 54 Occasional (29-5%) HP:0000518
18 long eyelashes64 54 Very frequent (99-80%) HP:0000527
19 thick eyebrow64 54 Very frequent (99-80%) HP:0000574
20 lacrimation abnormality64 54 Occasional (29-5%) HP:0000632
21 nystagmus64 54 Frequent (79-30%) HP:0000639
22 congenital diaphragmatic hernia64 54 Occasional (29-5%) HP:0000776
23 abnormality of the clavicle64 54 Occasional (29-5%) HP:0000889
24 cutis marmorata64 54 Occasional (29-5%) HP:0000965
25 intellectual disability64 54 Very frequent (99-80%) HP:0001249
26 seizures64 54 Frequent (79-30%) HP:0001250
27 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
28 global developmental delay64 54 Very frequent (99-80%) HP:0001263
29 dandy-walker malformation64 54 Frequent (79-30%) HP:0001305
30 partial agenesis of the corpus callosum64 54 Occasional (29-5%) HP:0001338
31 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
32 hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0002079
33 ventriculomegaly54 Occasional (29-5%)
34 recurrent respiratory infections64 54 Frequent (79-30%) HP:0002205
35 slow-growing hair64 54 Very frequent (99-80%) HP:0002217
36 generalized hirsutism64 54 Very frequent (99-80%) HP:0002230
37 malformation of the heart and great vessels54 Frequent (79-30%)
38 scoliosis64 54 Frequent (79-30%) HP:0002650
39 coxa valga64 54 Occasional (29-5%) HP:0002673
40 kyphosis64 54 Occasional (29-5%) HP:0002808
41 elbow dislocation64 54 Frequent (79-30%) HP:0003042
42 abnormality of the hip bone64 54 Occasional (29-5%) HP:0003272
43 spina bifida occulta64 54 Occasional (29-5%) HP:0003298
44 short stature64 54 Very frequent (99-80%) HP:0004322
45 abnormality of the intervertebral disk64 54 Occasional (29-5%) HP:0005108
46 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
47 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
48 aplasia/hypoplasia of the patella64 54 Frequent (79-30%) HP:0006498
49 aplasia/hypoplasia of the cerebellum64 54 Frequent (79-30%) HP:0007360
50 bilateral single transverse palmar creases64 54 Occasional (29-5%) HP:0007598
51 hypoplastic fifth fingernail64 54 Very frequent (99-80%) HP:0008398
52 renal hypoplasia/aplasia64 54 Occasional (29-5%) HP:0008678
53 feeding difficulties in infancy64 54 Very frequent (99-80%) HP:0008872
54 aplasia/hypoplasia of the distal phalanx of the 5th finger64 54 Very frequent (99-80%) HP:0009239
55 short distal phalanx of finger64 54 Very frequent (99-80%) HP:0009882
56 hypoplastic fifth toenail64 54 Occasional (29-5%) HP:0011937
57 aplasia/hypoplasia of the distal phalanx of the 5th toe64 54 Occasional (29-5%) HP:0100371
58 hernia54 Occasional (29-5%)
59 inguinal hernia64 HP:0000023
60 hypospadias64 HP:0000047
61 renal hypoplasia64 HP:0000089
62 aplasia of the uterus64 HP:0000151
63 high palate64 HP:0000218
64 preauricular skin tag64 HP:0000384
65 choanal atresia64 HP:0000453
66 broad nasal tip64 HP:0000455
67 astigmatism64 HP:0000483
68 myopia64 HP:0000545
69 hypotelorism64 HP:0000601
70 delayed eruption of teeth64 HP:0000684
71 aggressive behavior64 HP:0000718
72 autistic behavior64 HP:0000729
73 short sternum64 HP:0000879
74 single transverse palmar crease64 HP:0000954
75 sacral dimple64 HP:0000960
76 hemangioma64 HP:0001028
77 joint laxity64 HP:0001388
78 umbilical hernia64 HP:0001537
79 ventricular septal defect64 HP:0001629
80 atrial septal defect64 HP:0001631
81 tetralogy of fallot64 HP:0001636
82 patent ductus arteriosus64 HP:0001643
83 sparse scalp hair64 HP:0002209
84 facial hypertrichosis64 HP:0002219
85 intestinal malrotation64 HP:0002566
86 intussusception64 HP:0002576
87 duodenal ulcer64 HP:0002588
88 gastric ulcer64 HP:0002592
89 delayed skeletal maturation64 HP:0002750
90 dislocated radial head64 HP:0003083
91 short distal phalanx of the 5th finger64 HP:0004227
92 severe expressive language delay64 HP:0006863
93 postnatal growth retardation64 HP:0008897
94 lumbosacral hirsutism64 HP:0009747
95 short distal phalanx of the 5th toe64 HP:0100391
96 abnormality of cardiovascular system morphology64 HP:0030680

GenomeRNAi Phenotypes related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-19210.0ARID1A, FAM3C, SMARCB1, SMARCE1
2GR00371-A-57.9ARID1A, BANF1, SETD5, SMARCA4, SMARCB1, SMARCE1

MGI Mouse Phenotypes related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.1ADAMTS6, ARID1A, FAM3C, SETD5, SMARCA2, SMARCA4

Drugs & Therapeutics for Coffin-Siris Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Coffin-Siris Syndrome


Cochrane evidence based reviews: coffin-siris syndrome

Genetic Tests for Coffin-Siris Syndrome

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Genetic tests related to Coffin-Siris Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Siris Syndrome27 24 SMARCE1

Anatomical Context for Coffin-Siris Syndrome

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MalaCards organs/tissues related to Coffin-Siris Syndrome:

36
Bone, Kidney, Uterus, Heart, Skin, Cerebellum, Pituitary

Publications for Coffin-Siris Syndrome

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Articles related to Coffin-Siris Syndrome:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. (28124119)
2017
2
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. (27264538)
2016
3
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. (27264197)
2016
4
Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. (27672547)
2016
5
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. (26543203)
2015
6
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. (25168959)
2014
7
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. (24700502)
2014
8
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. (25169651)
2014
9
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. (24569609)
2014
10
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. (25081545)
2014
11
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. (25099957)
2014
12
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. (25298701)
2014
13
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. (25169878)
2014
14
De novo SOX11 mutations cause Coffin-Siris syndrome. (24886874)
2014
15
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. (25169447)
2014
16
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
17
Coffin-Siris syndrome is a SWI/SNF complex disorder. (23815551)
2013
18
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. (23929686)
2013
19
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. (22711679)
2012
20
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (22426308)
2012
21
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
22
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (22426309)
2012
23
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. (21452752)
2011
24
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. (20624500)
2010
25
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. (21059198)
2010
26
Is this the Coffin-Siris syndrome or the BOD syndrome? (19215055)
2009
27
Neuroblastoma in a patient with Coffin-Siris syndrome. (19842870)
2009
28
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
29
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
30
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
31
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
32
Anesthetic management in a child with Coffin-Siris syndrome. (15283836)
2004
33
Premature thelarche in Coffin-Siris syndrome. (12910500)
2003
34
Difficult airway in a patient with Coffin-Siris syndrome. (11159267)
2001
35
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. (11170086)
2001
36
Dandy-Walker variant in Coffin-Siris syndrome. (11298377)
2001
37
Candidate region for Coffin-Siris syndrome at 7q32-->34. (10925390)
2000
38
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
39
Diaphragmatic hernia in the Coffin-Siris syndrome. (9555587)
1998
40
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. (9286450)
1997
41
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. (8942018)
1996
42
Variant of Coffin-Siris syndrome or previously undescribed syndrome? (8870924)
1996
43
Hypoglycemia in Coffin-Siris syndrome. (8849011)
1995
44
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. (8591667)
1995
45
Coffin-Siris Syndrome (23556151)
1993
46
Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. (1493645)
1992
47
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. (1724113)
1991
48
Coffin-Siris syndrome with normal plasma biotinidase activity. (1915529)
1991
49
Coffin-Siris syndrome. (1865473)
1991
50
The Coffin-Siris syndrome. (2352263)
1990

Variations for Coffin-Siris Syndrome

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Clinvar genetic disease variations for Coffin-Siris Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1ARID1BNM_ 020732.3(ARID1B): c.6255_ 6256delCC (p.Cys2087Terfs)deletionPathogenicrs886040958GRCh38Chr 6, 157207396: 157207397
2ARID1BNM_ 020732.3(ARID1B): c.3919C> T (p.Gln1307Ter)SNVPathogenicrs387907140GRCh37Chr 6, 157517355: 157517355
3ARID1BNM_ 020732.3(ARID1B): c.6463_ 6473delAGCATTGGAAA (p.Ser2155Leufs)deletionPathogenicrs876657379GRCh37Chr 6, 157528738: 157528748
4ARID1BNM_ 020732.3(ARID1B): c.3304C> T (p.Arg1102Ter)SNVPathogenicrs387907141GRCh37Chr 6, 157502271: 157502271
5ARID1BNM_ 020732.3(ARID1B): c.3323_ 3324delAA (p.Lys1108Argfs)deletionPathogenicrs876657380GRCh38Chr 6, 157181156: 157181157
6ARID1BNM_ 020732.3(ARID1B): c.4038T> A (p.Tyr1346Ter)SNVPathogenicrs748363079GRCh37Chr 6, 157519969: 157519969
7ARID1BNM_ 020732.3(ARID1B): c.1903C> T (p.Gln635Ter)SNVPathogenicrs387907142GRCh37Chr 6, 157222636: 157222636
8ARID1BNM_ 020732.3(ARID1B): c.5632delG (p.Asp1878Metfs)deletionPathogenicrs876657381GRCh38Chr 6, 157206773: 157206773
9ARID1BNM_ 020732.3(ARID1B): c.5329A> T (p.Lys1777Ter)SNVPathogenicrs387907143GRCh37Chr 6, 157527604: 157527604
10ARID1BNM_ 020732.3(ARID1B): c.3223C> T (p.Arg1075Ter)SNVPathogenicrs387907144GRCh37Chr 6, 157502190: 157502190
11ARID1BNM_ 020732.3(ARID1B): c.4619_ 4628delACCAGACGCC (p.Gln1541Argfs)deletionPathogenicrs876657382GRCh38Chr 6, 157201213: 157201222
12ARID1BNM_ 020732.3(ARID1B): c.5025+1G> ASNVLikely pathogenicrs1057518984GRCh37Chr 6, 157525131: 157525131
13ARID1BNM_ 001346813.1(ARID1B): c.3406_ 3407dupAA (p.Pro1137Serfs)duplicationLikely pathogenicrs1057519009GRCh37Chr 6, 157502253: 157502254

Copy number variations for Coffin-Siris Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12194377126900000142800000Copy numberCoffin-Siris syndrome

Expression for genes affiliated with Coffin-Siris Syndrome

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

Pathways for genes affiliated with Coffin-Siris Syndrome

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GO Terms for genes affiliated with Coffin-Siris Syndrome

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Cellular components related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BAF-type complexGO:00905449.9ARID1A, ARID1B, SMARCB1, SMARCC2, SMARCE1
2npBAF complexGO:00715649.5ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
3nuclear chromatinGO:00007909.5ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
4nBAF complexGO:00715659.3ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
5SWI/SNF complexGO:00165148.6ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
6nucleoplasmGO:00056547.9ARID1A, ARID1B, BANF1, CMAS, PHF6, SMARCA2

Biological processes related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1chromatin-mediated maintenance of transcriptionGO:004809610.8ARID1A, ARID1B
2positive regulation by host of viral transcriptionGO:004392310.8SMARCA4, SMARCB1
3positive regulation of glucose mediated signaling pathwayGO:190266110.8SMARCA4, SMARCB1
4positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoterGO:190183810.8SMARCA4, SMARCB1
5DNA integrationGO:001507410.7BANF1, SMARCB1
6optic cup formation involved in camera-type eye developmentGO:000340810.4ARID1A, WNT16
7ATP-dependent chromatin remodelingGO:00430449.9ARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCE1
8nucleosome disassemblyGO:00063379.9ARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCE1
9positive regulation of transcription, DNA-templatedGO:00458939.8ARID1A, SMARCA2, SMARCA4, SMARCC2, SOX11
10covalent chromatin modificationGO:00165699.7ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCC2, SMARCE1
11regulation of transcription from RNA polymerase II promoterGO:00063579.6ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
12chromatin remodelingGO:00063389.4ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
13nervous system developmentGO:00073999.1ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
14regulation of transcription, DNA-templatedGO:00063558.9ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1
15transcription, DNA-templatedGO:00063518.2ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1

Molecular functions related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1ligand-dependent nuclear receptor bindingGO:001692210.7ARID1A, SMARCE1
2RNA polymerase I CORE element sequence-specific DNA bindingGO:000116410.7SMARCA4, SMARCB1
3DNA-dependent ATPase activityGO:000809410.6SMARCA2, SMARCA4
4hydrolase activity, acting on acid anhydridesGO:001681710.6SMARCA2, SMARCA4
5Tat protein bindingGO:003095710.6SMARCA4, SMARCB1
6protein N-terminus bindingGO:004748510.4BANF1, SMARCA4, SMARCE1
7histone bindingGO:004239310.3PHF6, SMARCA2, SMARCA4
8RNA polymerase II transcription coactivator activityGO:000110510.3SMARCA2, SMARCA4, SOX11
9nucleosomal DNA bindingGO:003149210.0SMARCA4, SMARCB1, SMARCC2, SMARCE1
10RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:000097810.0SMARCA4, SMARCB1, SMARCC2, SMARCE1
11RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.9SMARCA4, SMARCB1, SMARCC2, SMARCE1
12transcription coactivator activityGO:00037138.6ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
13DNA bindingGO:00036778.6ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCB1

Sources for Coffin-Siris Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet