MCID: CFF001
MIFTS: 55

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 50 11 22 46 23 24 13 52 68 25 12 37 66
Fifth Digit Syndrome 11 22 46 23 24 68
Dwarfism-Onychodysplasia 11 24
Css 52 68
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 46
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 24
 
Mental Retardation, Autosomal Dominant 12 68
Short Stature-Onychodysplasia. 11
Short Stature-Onychodysplasia 24
Coffin-Siris Syndrome 1 68
Mrd12 68
Css1 68

Characteristics:

Orphanet epidemiological data:

52
coffin-siris syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood

HPO:

62
coffin-siris syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 135900
Disease Ontology11 DOID:1925
NCIt43 C35321
Orphanet52 ORPHA1465
SNOMED-CT60 10007009
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C536436
UMLS via Orphanet67 C0265338
MedGen35 C0265338

Summaries for Coffin-Siris Syndrome

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OMIM:50 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 mental retardation, autosomal dominant 12, 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 TNF-alpha/NF-kB Signaling Pathway and Prostate Cancer. 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:24 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:46 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:68 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 summary 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

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1short stature, onychodysplasia, facial dysmorphism, and hypotrichosis12.7
2mental retardation, autosomal dominant 1212.3
3arid1a-related coffin-siris syndrome12.2
4arid1b-related coffin-siris syndrome12.2
5smarca4-related coffin-siris syndrome12.2
6smarcb1-related coffin-siris syndrome12.2
7smarce1-related coffin-siris syndrome12.2
8mental retardation, autosomal dominant 1411.6
9mental retardation, autosomal dominant 1611.6
10mental retardation, autosomal dominant 1511.6
11eosinophilic granulomatosis with polyangiitis11.2
12brachymorphism-onychodysplasia-dysphalangism syndrome10.9
13ehlers-danlos/osteogenesis imperfecta syndrome10.6SMARCA4, SMARCB1
14alcohol-induced mental disorder10.5SMARCA2, SMARCA4
15albinism, oculocutaneous, type iii10.5ARID1B, SMARCA2
16boutonneuse fever10.5SMARCA2, SMARCA4
17plexiform schwannoma10.5SMARCB1, SMARCE1
18kluver-bucy syndrome10.5SMARCA2, SMARCA4
19obesity10.4
20pulmonary plasma cell granuloma10.4SMARCA4, SMARCB1
213p- syndrome10.4SMARCA2, SMARCA4
22urethra leiomyoma10.3SMARCA2, SMARCA4
23skin sarcoma10.3ARID1A, BANF1
24esophagus leiomyoma10.2PHF6, SMARCB1
25neuroblastoma10.2
26medulloblastoma10.2
27biotinidase deficiency10.2
28coffin-lowry syndrome10.2
29door syndrome10.2
30epilepsy10.2
31hyperinsulinism10.2
32pituitary hypoplasia10.2
33choanal atresia10.2
34hypoglycemia10.2
35growth hormone deficiency10.2
36myopathy with extrapyramidal signs10.2SMARCA2, SMARCA4
37hypotrichosis10.1
38brain stem glioma10.1ARID1A, ARID1B, SMARCA4, SMARCB1
39echinococcosis10.0SMARCA2, SMARCA4
40mental retardation, x-linked syndromic, christianson type8.7ARID1A, ARID1B, BANF1, PHF6, SMARCA2, SMARCA4
41alopecia, neurologic defects, and endocrinopathy syndrome5.5ADAMTS6, 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

Symptoms:

 52 (show all 58)
  • cryptorchidism
  • ectopic kidney
  • hydronephrosis
  • wide mouth
  • abnormality of the teeth
  • cleft palate
  • thick lower lip vermilion
  • microcephaly
  • coarse facial features
  • epicanthus
  • short philtrum
  • hearing impairment
  • wide nasal bridge
  • depressed nasal ridge
  • strabismus
  • ptosis
  • cataract
  • long eyelashes
  • thick eyebrow
  • lacrimation abnormality
  • nystagmus
  • congenital diaphragmatic hernia
  • abnormality of the clavicle
  • cutis marmorata
  • intellectual disability
  • seizures
  • muscular hypotonia
  • global developmental delay
  • dandy-walker malformation
  • partial agenesis of the corpus callosum
  • intrauterine growth retardation
  • hypoplasia of the corpus callosum
  • ventriculomegaly
  • recurrent respiratory infections
  • slow-growing hair
  • generalized hirsutism
  • malformation of the heart and great vessels
  • scoliosis
  • coxa valga
  • kyphosis
  • elbow dislocation
  • abnormality of the hip bone
  • spina bifida occulta
  • short stature
  • abnormality of the intervertebral disk
  • depressed nasal bridge
  • joint hyperflexibility
  • aplasia/hypoplasia of the patella
  • aplasia/hypoplasia of the cerebellum
  • bilateral single transverse palmar creases
  • hypoplastic fifth fingernail
  • renal hypoplasia/aplasia
  • feeding difficulties in infancy
  • aplasia/hypoplasia of the distal phalanx of the 5th finger
  • short distal phalanx of finger
  • hypoplastic fifth toenail
  • aplasia/hypoplasia of the distal phalanx of the 5th toe
  • hernia

HPO human phenotypes related to Coffin-Siris Syndrome:

(show all 118)
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 scoliosis typical (50%) HP:0002650
27 elbow dislocation typical (50%) HP:0003042
28 depressed nasal bridge typical (50%) HP:0005280
29 patellar aplasia typical (50%) HP:0006443
30 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
31 cleft palate occasional (7.5%) HP:0000175
32 epicanthus occasional (7.5%) HP:0000286
33 short philtrum occasional (7.5%) HP:0000322
34 ptosis occasional (7.5%) HP:0000508
35 cataract occasional (7.5%) HP:0000518
36 lacrimation abnormality occasional (7.5%) HP:0000632
37 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
38 abnormality of the clavicle occasional (7.5%) HP:0000889
39 single transverse palmar crease occasional (7.5%) HP:0000954
40 cutis marmorata occasional (7.5%) HP:0000965
41 kyphosis occasional (7.5%) HP:0002808
42 abnormality of the hip bone occasional (7.5%) HP:0003272
43 spina bifida occulta occasional (7.5%) HP:0003298
44 abnormality of the intervertebral disk occasional (7.5%) HP:0005108
45 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
46 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
47 aplastic/hypoplastic toenail occasional (7.5%) HP:0010624
48 abnormal localization of kidney occasional (7.5%) HP:0100542
49 inguinal hernia HP:0000023
50 cryptorchidism HP:0000028
51 hypospadias HP:0000047
52 ectopic kidney HP:0000086
53 renal hypoplasia HP:0000089
54 hydronephrosis HP:0000126
55 aplasia of the uterus HP:0000151
56 wide mouth HP:0000154
57 cleft palate HP:0000175
58 thick lower lip vermilion HP:0000179
59 high palate HP:0000218
60 microcephaly HP:0000252
61 coarse facial features HP:0000280
62 hearing impairment HP:0000365
63 preauricular skin tag HP:0000384
64 choanal atresia HP:0000453
65 broad nasal tip HP:0000455
66 astigmatism HP:0000483
67 strabismus HP:0000486
68 ptosis HP:0000508
69 long eyelashes HP:0000527
70 myopia HP:0000545
71 thick eyebrow HP:0000574
72 hypotelorism HP:0000601
73 nystagmus HP:0000639
74 delayed eruption of teeth HP:0000684
75 aggressive behavior HP:0000718
76 autistic behavior HP:0000729
77 congenital diaphragmatic hernia HP:0000776
78 short sternum HP:0000879
79 single transverse palmar crease HP:0000954
80 sacral dimple HP:0000960
81 cutis marmorata HP:0000965
82 hemangioma HP:0001028
83 intellectual disability HP:0001249
84 seizures HP:0001250
85 muscular hypotonia HP:0001252
86 dandy-walker malformation HP:0001305
87 partial agenesis of the corpus callosum HP:0001338
88 joint laxity HP:0001388
89 intrauterine growth retardation HP:0001511
90 umbilical hernia HP:0001537
91 ventricular septal defect HP:0001629
92 atria septal defect HP:0001631
93 tetralogy of fallot HP:0001636
94 patent ductus arteriosus HP:0001643
95 hypoplasia of the corpus callosum HP:0002079
96 recurrent respiratory infections HP:0002205
97 sparse scalp hair HP:0002209
98 facial hypertrichosis HP:0002219
99 intestinal malrotation HP:0002566
100 intussusception HP:0002576
101 duodenal ulcer HP:0002588
102 gastric ulcer HP:0002592
103 scoliosis HP:0002650
104 coxa valga HP:0002673
105 delayed skeletal maturation HP:0002750
106 kyphosis HP:0002808
107 dislocated radial head HP:0003083
108 spina bifida occulta HP:0003298
109 short distal phalanx of the 5th finger HP:0004227
110 short stature HP:0004322
111 depressed nasal bridge HP:0005280
112 aplasia/hypoplasia of the patella HP:0006498
113 severe expressive language delay HP:0006863
114 hypoplastic fifth fingernail HP:0008398
115 feeding difficulties in infancy HP:0008872
116 postnatal growth retardation HP:0008897
117 lumbosacral hirsutism HP:0009747
118 short distal phalanx of the 5th toe HP:0100391

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 Syndrome25 23 SMARCE1

Anatomical Context for Coffin-Siris Syndrome

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MalaCards organs/tissues related to Coffin-Siris Syndrome:

34
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:

39
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 66)
idTitleAuthorsYear
1
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. (27264197)
2016
2
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. (26543203)
2015
3
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. (25168959)
2014
4
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. (24569609)
2014
5
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. (25169651)
2014
6
De novo SOX11 mutations cause Coffin-Siris syndrome. (24886874)
2014
7
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
8
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. (25169447)
2014
9
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. (25298701)
2014
10
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. (25099957)
2014
11
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. (24700502)
2014
12
Coffin-Siris syndrome is a SWI/SNF complex disorder. (23815551)
2013
13
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
14
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (22426308)
2012
15
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
16
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (22426309)
2012
17
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. (21452752)
2011
18
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. (21059198)
2010
19
Neuroblastoma in a patient with Coffin-Siris syndrome. (19842870)
2009
20
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
21
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
22
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
23
Premature thelarche in Coffin-Siris syndrome. (12910500)
2003
24
Dandy-Walker variant in Coffin-Siris syndrome. (11298377)
2001
25
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. (11170086)
2001
26
Difficult airway in a patient with Coffin-Siris syndrome. (11159267)
2001
27
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
28
Candidate region for Coffin-Siris syndrome at 7q32--&gt;34. (10925390)
2000
29
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. (9286450)
1997
30
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. (8942018)
1996
31
Variant of Coffin-Siris syndrome or previously undescribed syndrome? (8870924)
1996
32
Hypoglycemia in Coffin-Siris syndrome. (8849011)
1995
33
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. (8591667)
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
Ocular anomalies in Coffin-Siris syndrome. (4069596)
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
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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1SMARCE1NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys)single nucleotide variantLikely pathogenic, Pathogenicrs387906857GRCh37Chr 17, 38793763: 38793763
2ARID1BNM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter)single nucleotide variantPathogenicrs387907140GRCh37Chr 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)single nucleotide variantPathogenicrs387907141GRCh37Chr 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)single nucleotide variantPathogenicrs748363079GRCh37Chr 6, 157519969: 157519969
7ARID1BNM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter)single nucleotide variantPathogenicrs387907142GRCh37Chr 6, 157222636: 157222636
8ARID1BNM_020732.3(ARID1B): c.5632delG (p.Asp1878Metfs)deletionPathogenicrs876657381GRCh37Chr 6, 157527907: 157527907
9ARID1BNM_020732.3(ARID1B): c.5329A> T (p.Lys1777Ter)single nucleotide variantPathogenicrs387907143GRCh37Chr 6, 157527604: 157527604
10ARID1BNM_020732.3(ARID1B): c.3223C> T (p.Arg1075Ter)single nucleotide variantPathogenicrs387907144GRCh37Chr 6, 157502190: 157502190
11ARID1BNM_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:00905449.4ARID1A, ARID1B, SMARCB1, SMARCC2, SMARCE1
2protein complexGO:00432349.2SMARCA4, SMARCB1, SMARCC2, SMARCE1
3npBAF complexGO:00715649.0ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
4SWI/SNF complexGO:00165148.8ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
5nuclear chromatinGO:00007908.7ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
6nBAF complexGO:00715658.5ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
7nucleoplasmGO:00056546.9ARID1A, 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 of transcription of nuclear large rRNA transcript from RNA polymerase I promoterGO:190183810.7SMARCA4, SMARCB1
3positive regulation by host of viral transcriptionGO:004392310.5SMARCA4, SMARCB1
4chromatin-mediated maintenance of transcriptionGO:004809610.5ARID1A, ARID1B
5DNA integrationGO:001507410.4BANF1, SMARCB1
6optic cup formation involved in camera-type eye developmentGO:000340810.3ARID1A, WNT16
7nucleosome disassemblyGO:00063379.4ARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCE1
8ATP-dependent chromatin remodelingGO:00430449.3ARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCE1
9negative regulation of transcription, DNA-templatedGO:00458929.3SMARCA2, SMARCA4, SMARCC2, SMARCE1
10nervous system developmentGO:00073999.0ARID1B, SMARCA2, SMARCA4, SMARCB1
11positive regulation of transcription, DNA-templatedGO:00458939.0ARID1A, SMARCA2, SMARCA4, SMARCC2, SOX11
12covalent chromatin modificationGO:00165698.9ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCC2, SMARCE1
13chromatin remodelingGO:00063388.9ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
14regulation of transcription from RNA polymerase II promoterGO:00063578.8ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
15negative regulation of transcription from RNA polymerase II promoterGO:00001228.6ARID1A, SMARCA2, SMARCA4, SMARCC2, SOX11
16transcription, DNA-templatedGO:00063518.0ARID1A, 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:000116410.4SMARCA4, SMARCB1
2ligand-dependent nuclear receptor bindingGO:001692210.4ARID1A, SMARCE1
3Tat protein bindingGO:003095710.0SMARCA4, SMARCB1
4DNA-dependent ATPase activityGO:00080949.8SMARCA2, SMARCA4
5RNA polymerase II transcription coactivator activityGO:00011059.8SMARCA2, SMARCA4, SOX11
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:00009789.0SMARCA4, SMARCB1, SMARCC2, SMARCE1
9transcription coactivator activityGO:00037138.3ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2

Sources for Coffin-Siris Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet