MCID: CFF001
MIFTS: 50

Coffin-Siris Syndrome 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 51 11 23 47 24 25 53 69 26 12 38 13 67
Fifth Digit Syndrome 11 23 47 24 25 69
Mental Retardation, Autosomal Dominant 12 69 67
Dwarfism-Onychodysplasia 11 25
Css 53 69
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 47
 
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 25
Short Stature-Onychodysplasia. 11
Short Stature-Onychodysplasia 25
Coffin-Siris Syndrome 1 69
Mrd12 69
Css1 69

Characteristics:

Orphanet epidemiological data:

53
coffin-siris syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood

HPO:

63
coffin-siris syndrome:
Inheritance: autosomal recessive inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM51 135900
Disease Ontology11 DOID:1925
NCIt44 C35321
Orphanet53 ORPHA1465
SNOMED-CT61 10007009
MESH via Orphanet39 C536436
UMLS via Orphanet68 C0265338
ICD10 via Orphanet30 Q87.1
MedGen36 C0265338

Summaries for Coffin-Siris Syndrome

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OMIM:51 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 abnormality of the teeth, thick lower lip vermilion and microcephaly. An important gene associated with Coffin-Siris Syndrome is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways are BRCA1 Pathway and Chromatin Regulation / Acetylation. Affiliated tissues include kidney, bone and uterus, and related mouse phenotype skeleton.

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:47 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:69 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 42)
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 syndrome12.1
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
13autoimmune lymphoproliferative syndrome11.1
14eosinophilic granulomatosis with polyangiitis11.1
15ehlers-danlos/osteogenesis imperfecta syndrome10.5SMARCA4, SMARCB1
16alcohol-induced mental disorder10.4SMARCA2, SMARCA4
17plexiform schwannoma10.4SMARCB1, SMARCE1
18boutonneuse fever10.4SMARCA2, SMARCA4
19albinism, oculocutaneous, type iii10.4ARID1B, SMARCA2
20kluver-bucy syndrome10.4SMARCA2, SMARCA4
21pulmonary plasma cell granuloma10.4SMARCA4, SMARCB1
22obesity10.3
233p- syndrome10.3SMARCA2, SMARCA4
24skin sarcoma10.2ARID1A, BANF1
25urethra leiomyoma10.2SMARCA2, SMARCA4
26esophagus leiomyoma10.2PHF6, SMARCB1
27hyperinsulinism10.2
28myopathy with extrapyramidal signs10.1SMARCA2, SMARCA4
29brain stem glioma10.1ARID1A, ARID1B, SMARCA4, SMARCB1
30neuroblastoma10.0
31medulloblastoma10.0
32biotinidase deficiency10.0
33coffin-lowry syndrome10.0
34door syndrome10.0
35epilepsy10.0
36pituitary hypoplasia10.0
37hypoglycemia10.0
38growth hormone deficiency10.0
39hypotrichosis10.0
40echinococcosis10.0SMARCA2, SMARCA4
41mental retardation, x-linked syndromic, christianson type8.9ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCA4
42alopecia, neurologic defects, and endocrinopathy syndrome6.3ADAMTS6, ARID1A, ARID1B, BANF1, CMAS, FAM3C

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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Symptoms by clinical synopsis from OMIM:

135900

Clinical features from OMIM:

135900

Human phenotypes related to Coffin-Siris Syndrome:

 63 53 (show all 104)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0000164
2 thick lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000179
3 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
4 coarse facial features63 53 hallmark (90%) Very frequent (99-80%) HP:0000280
5 abnormality of the eyelashes63 hallmark (90%) HP:0000499
6 thick eyebrow63 53 hallmark (90%) Very frequent (99-80%) HP:0000574
7 hypertrichosis63 hallmark (90%) HP:0000998
8 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
9 anonychia63 hallmark (90%) HP:0001798
10 slow-growing hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002217
11 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
12 feeding difficulties in infancy63 53 hallmark (90%) Very frequent (99-80%) HP:0008872
13 short distal phalanx of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0009882
14 cognitive impairment63 hallmark (90%) HP:0100543
15 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
16 wide mouth63 53 typical (50%) Frequent (79-30%) HP:0000154
17 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
18 depressed nasal ridge63 53 typical (50%) Frequent (79-30%) HP:0000457
19 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
20 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
21 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
22 dandy-walker malformation63 53 typical (50%) Frequent (79-30%) HP:0001305
23 joint hypermobility63 typical (50%) HP:0001382
24 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
25 recurrent respiratory infections63 53 typical (50%) Frequent (79-30%) HP:0002205
26 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
27 elbow dislocation63 53 typical (50%) Frequent (79-30%) HP:0003042
28 depressed nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0005280
29 patellar aplasia63 typical (50%) HP:0006443
30 aplasia/hypoplasia of the cerebellum63 53 typical (50%) Frequent (79-30%) HP:0007360
31 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
32 epicanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000286
33 short philtrum63 53 occasional (7.5%) Occasional (29-5%) HP:0000322
34 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
35 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
36 lacrimation abnormality63 53 occasional (7.5%) Occasional (29-5%) HP:0000632
37 congenital diaphragmatic hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0000776
38 abnormality of the clavicle63 53 occasional (7.5%) Occasional (29-5%) HP:0000889
39 single transverse palmar crease63 occasional (7.5%) HP:0000954
40 cutis marmorata63 53 occasional (7.5%) Occasional (29-5%) HP:0000965
41 kyphosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002808
42 abnormality of the hip bone63 53 occasional (7.5%) Occasional (29-5%) HP:0003272
43 spina bifida occulta63 53 occasional (7.5%) Occasional (29-5%) HP:0003298
44 abnormality of the intervertebral disk63 53 occasional (7.5%) Occasional (29-5%) HP:0005108
45 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
46 renal hypoplasia/aplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0008678
47 aplastic/hypoplastic toenail63 occasional (7.5%) HP:0010624
48 abnormal localization of kidney63 occasional (7.5%) HP:0100542
49 inguinal hernia63 HP:0000023
50 hypospadias63 HP:0000047
51 ectopic kidney63 53 Occasional (29-5%) HP:0000086
52 renal hypoplasia63 HP:0000089
53 hydronephrosis63 53 Occasional (29-5%) HP:0000126
54 aplasia of the uterus63 HP:0000151
55 high palate63 HP:0000218
56 preauricular skin tag63 HP:0000384
57 choanal atresia63 HP:0000453
58 broad nasal tip63 HP:0000455
59 astigmatism63 HP:0000483
60 long eyelashes63 53 Very frequent (99-80%) HP:0000527
61 myopia63 HP:0000545
62 hypotelorism63 HP:0000601
63 delayed eruption of teeth63 HP:0000684
64 aggressive behavior63 HP:0000718
65 autistic behavior63 HP:0000729
66 short sternum63 HP:0000879
67 sacral dimple63 HP:0000960
68 hemangioma63 HP:0001028
69 intellectual disability63 53 Very frequent (99-80%) HP:0001249
70 partial agenesis of the corpus callosum63 53 Occasional (29-5%) HP:0001338
71 joint laxity63 HP:0001388
72 umbilical hernia63 HP:0001537
73 ventricular septal defect63 HP:0001629
74 atria septal defect63 HP:0001631
75 tetralogy of fallot63 HP:0001636
76 patent ductus arteriosus63 HP:0001643
77 hypoplasia of the corpus callosum63 53 Occasional (29-5%) HP:0002079
78 sparse scalp hair63 HP:0002209
79 facial hypertrichosis63 HP:0002219
80 intestinal malrotation63 HP:0002566
81 intussusception63 HP:0002576
82 duodenal ulcer63 HP:0002588
83 gastric ulcer63 HP:0002592
84 coxa valga63 53 Occasional (29-5%) HP:0002673
85 delayed skeletal maturation63 HP:0002750
86 dislocated radial head63 HP:0003083
87 short distal phalanx of the 5th finger63 HP:0004227
88 aplasia/hypoplasia of the patella63 53 Frequent (79-30%) HP:0006498
89 severe expressive language delay63 HP:0006863
90 hypoplastic fifth fingernail63 53 Very frequent (99-80%) HP:0008398
91 postnatal growth retardation63 HP:0008897
92 lumbosacral hirsutism63 HP:0009747
93 short distal phalanx of the 5th toe63 HP:0100391
94 wide nasal bridge53 Very frequent (99-80%)
95 global developmental delay53 Very frequent (99-80%)
96 ventriculomegaly53 Occasional (29-5%)
97 generalized hirsutism53 Very frequent (99-80%)
98 malformation of the heart and great vessels53 Frequent (79-30%)
99 joint hyperflexibility53 Frequent (79-30%)
100 bilateral single transverse palmar creases53 Occasional (29-5%)
101 aplasia/hypoplasia of the distal phalanx of the 5th finger53 Very frequent (99-80%)
102 hypoplastic fifth toenail53 Occasional (29-5%)
103 aplasia/hypoplasia of the distal phalanx of the 5th toe53 Occasional (29-5%)
104 hernia53 Occasional (29-5%)

UMLS symptoms related to Coffin-Siris Syndrome:


seizures, joint laxity

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 Syndrome26 24 SMARCE1

Anatomical Context for Coffin-Siris Syndrome

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MalaCards organs/tissues related to Coffin-Siris Syndrome:

35
Kidney, Bone, Uterus, Heart, Skin, Cerebellum, Pituitary

Animal Models for Coffin-Siris Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Coffin-Siris Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.5ADAMTS6, ARID1A, FAM3C, SMARCA2, SMARCA4, SOX11

Publications for Coffin-Siris Syndrome

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Articles related to Coffin-Siris Syndrome:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. (27264197)
2016
2
Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. (27672547)
2016
3
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. (26543203)
2015
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
De novo SOX11 mutations cause Coffin-Siris syndrome. (24886874)
2014
8
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
9
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. (25169447)
2014
10
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. (25298701)
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: phenotypic evolution of a novel SMARCA4 mutation. (24700502)
2014
13
Coffin-Siris syndrome is a SWI/SNF complex disorder. (23815551)
2013
14
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
15
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (22426308)
2012
16
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
17
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (22426309)
2012
18
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. (21452752)
2011
19
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. (21059198)
2010
20
Neuroblastoma in a patient with Coffin-Siris syndrome. (19842870)
2009
21
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
22
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
23
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
24
Premature thelarche in Coffin-Siris syndrome. (12910500)
2003
25
Dandy-Walker variant in Coffin-Siris syndrome. (11298377)
2001
26
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. (11170086)
2001
27
Difficult airway in a patient with Coffin-Siris syndrome. (11159267)
2001
28
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
29
Candidate region for Coffin-Siris syndrome at 7q32-->34. (10925390)
2000
30
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. (9286450)
1997
31
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. (8942018)
1996
32
Variant of Coffin-Siris syndrome or previously undescribed syndrome? (8870924)
1996
33
Hypoglycemia in Coffin-Siris syndrome. (8849011)
1995
34
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. (8591667)
1995
35
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. (1724113)
1991
36
Coffin-Siris syndrome. (1865473)
1991
37
The Coffin-Siris syndrome. (2352263)
1990
38
Medulloblastoma in association with the Coffin-Siris syndrome. (2456854)
1988
39
12;14 translocation in Coffin Siris syndrome. (2824376)
1987
40
Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome. (3537244)
1986
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
The Coffin-Siris syndrome. A report of four cases and review of the literature. (7019832)
1981
44
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. (7294058)
1981
45
The Coffin-Siris syndrome: a case report. (7192700)
1980
46
The Coffin-Siris syndrome: five new cases including two siblings. (665592)
1978
47
Coffin-Siris syndrome. (717300)
1978
48
The Coffin-Siris syndrome. (665590)
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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Clinvar genetic disease variations for Coffin-Siris Syndrome:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1ARID1BNM_020732.3(ARID1B): c.2692C> T (p.Arg898Ter)SNVPathogenicrs794727977GRCh37Chr 6, 157469898: 157469898
2ARID1BNM_020732.3(ARID1B): c.6255_6256delCC (p.Cys2087Terfs)deletionPathogenicrs886040958GRCh37Chr 6, 157528530: 157528531
3ARID1BNM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter)SNVPathogenicrs387907140GRCh37Chr 6, 157517355: 157517355
4ARID1BNM_020732.3(ARID1B): c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs)deletionPathogenicrs876657379GRCh37Chr 6, 157528738: 157528748
5ARID1BNM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter)SNVPathogenicrs387907141GRCh37Chr 6, 157502271: 157502271
6ARID1BNM_020732.3(ARID1B): c.3323_3324delAA (p.Lys1108Argfs)deletionPathogenicrs876657380GRCh37Chr 6, 157502290: 157502291
7ARID1BNM_020732.3(ARID1B): c.4038T> A (p.Tyr1346Ter)SNVPathogenicrs748363079GRCh37Chr 6, 157519969: 157519969
8ARID1BNM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter)SNVPathogenicrs387907142GRCh37Chr 6, 157222636: 157222636
9ARID1BNM_020732.3(ARID1B): c.5632delG (p.Asp1878Metfs)deletionPathogenicrs876657381GRCh37Chr 6, 157527907: 157527907
10ARID1BNM_020732.3(ARID1B): c.5329A> T (p.Lys1777Ter)SNVPathogenicrs387907143GRCh37Chr 6, 157527604: 157527604
11ARID1BNM_020732.3(ARID1B): c.3223C> T (p.Arg1075Ter)SNVPathogenicrs387907144GRCh37Chr 6, 157502190: 157502190
12ARID1BNM_020732.3(ARID1B): c.4619_4628delACCAGACGCC (p.Gln1541Argfs)deletionPathogenicrs876657382GRCh38Chr 6, 157201213: 157201222

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:00905449.5ARID1A, ARID1B, SMARCB1, SMARCC2, SMARCE1
2npBAF complexGO:00715649.2ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
3protein complexGO:00432349.2SMARCA4, SMARCB1, SMARCC2, SMARCE1
4SWI/SNF complexGO:00165148.9ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
5nBAF complexGO:00715658.5ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
6nuclear chromatinGO:00007908.5ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
7nucleoplasmGO:00056546.8ARID1A, ARID1B, BANF1, CMAS, PHF6, SMARCA2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glucose mediated signaling pathwayGO:190266110.7SMARCA4, SMARCB1
2positive regulation by host of viral transcriptionGO:004392310.6SMARCA4, SMARCB1
3chromatin-mediated maintenance of transcriptionGO:004809610.5ARID1A, ARID1B
4positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoterGO:190183810.5SMARCA4, SMARCB1
5DNA integrationGO:001507410.5BANF1, SMARCB1
6optic cup formation involved in camera-type eye developmentGO:000340810.4ARID1A, WNT16
7nucleosome disassemblyGO:00063379.5ARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCE1
8ATP-dependent chromatin remodelingGO:00430449.4ARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCE1
9nervous system developmentGO:00073999.3ARID1B, SMARCA2, SMARCA4, SMARCB1
10positive regulation of transcription, DNA-templatedGO:00458939.1ARID1A, SMARCA2, SMARCA4, SMARCC2, SOX11
11chromatin remodelingGO:00063388.9ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
12regulation of transcription from RNA polymerase II promoterGO:00063578.9ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
13covalent chromatin modificationGO:00165698.8ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCC2, SMARCE1
14negative regulation of transcription, DNA-templatedGO:00458928.7SMARCA2, SMARCA4, SMARCC2, SMARCE1
15negative regulation of transcription from RNA polymerase II promoterGO:00001228.7ARID1A, SMARCA2, SMARCA4, SMARCC2, SOX11
16transcription, DNA-templatedGO:00063518.2ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase I CORE element sequence-specific DNA bindingGO:000116410.5SMARCA4, SMARCB1
2ligand-dependent nuclear receptor bindingGO:001692210.4ARID1A, SMARCE1
3Tat protein bindingGO:003095710.0SMARCA4, SMARCB1
4RNA polymerase II transcription coactivator activityGO:00011059.9SMARCA2, SMARCA4, SOX11
5DNA-dependent ATPase activityGO:00080949.8SMARCA2, SMARCA4
6nucleosomal DNA bindingGO:00314929.5SMARCA4, SMARCB1, SMARCC2, SMARCE1
7RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.4SMARCA4, SMARCB1, SMARCC2, SMARCE1
8RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.8SMARCA4, SMARCB1, SMARCC2, SMARCE1
9transcription coactivator activityGO:00037138.4ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2

Sources for Coffin-Siris Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet