MCID: CFF001
MIFTS: 54

Coffin-Siris Syndrome malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Coffin-Siris Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Coffin-Siris Syndrome:

Name: Coffin-Siris Syndrome 49 10 11 21 45 22 23 12 51 24 65 36
Fifth Digit Syndrome 10 21 45 22 23
Dwarfism-Onychodysplasia 10 23
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 45
 
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 23
Short Stature-Onychodysplasia. 10
Short Stature-Onychodysplasia 23
Css 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
coffin-siris syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood


External Ids:

OMIM49 135900
Disease Ontology10 DOID:1925
NCIt42 C35321
MeSH36 C536436
Orphanet51 1465
SNOMED-CT59 10007009
UMLS via Orphanet66 C0265338
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C536436

Summaries for Coffin-Siris Syndrome

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OMIM:49 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 obesity, 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 Interactive Domain 1B (SWI1-Like)), and among its related pathways are Prostate Cancer and TNF-alpha/NF-kB Signaling Pathway. Affiliated tissues include kidney, bone and testes, and related mouse phenotype digestive/alimentary.

Disease Ontology:10 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.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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.

GeneReviews summary for coffin-siris

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 top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.8
2obesity10.6
3arid1a-related coffin-siris syndrome10.6
4arid1b-related coffin-siris syndrome10.6
5smarca4-related coffin-siris syndrome10.6
6smarcb1-related coffin-siris syndrome10.6
7smarce1-related coffin-siris syndrome10.6
8bod syndrome10.5
9neuroblastoma10.3
10mental retardation, autosomal dominant 1410.3
11medulloblastoma10.3
12biotinidase deficiency10.3
13mental retardation, autosomal dominant 1210.3
14mental retardation, autosomal dominant 1610.3
15mental retardation, autosomal dominant 1510.3
16coffin-lowry syndrome10.3
17door syndrome10.3
18choanal atresia10.3
19hypoglycemia10.3
20churg-strauss syndrome10.3
21pituitary hypoplasia10.3
22hyperinsulinism10.3
23growth hormone deficiency10.3
24hypotrichosis10.3
25nphp3-related meckel-like syndrome10.2SMARCB1, SMARCE1
26beckwith-wiedemann syndrome due to imprinting defect of 11p1510.2SMARCA4, SMARCB1
27osteochondrodysplatic nanism - deafness - retinitis pigmentosa10.2ARID1B, SMARCA2
28tumor predisposition syndrome10.2SMARCA4, SMARCB1
29sporotrichosis10.2SMARCA2, SMARCA4
30tooth resorption10.2SMARCA2, SMARCA4
31peroneal nerve paralysis10.2SMARCA2, SMARCA4
32rhabdoid meningioma10.2SMARCA4, SMARCB1
33autoimmune lymphoproliferative syndrome10.2
34childhood leukemia10.1SMARCA4, SMARCB1
35rhabdomyomatous mesenchymal hamartoma10.1SMARCA4, SMARCB1
36adenoma10.1ARID1A, BANF1
37krukenberg carcinoma10.1PHF6, SMARCB1
38gingival overgrowth10.1SMARCA2, SMARCA4
39asthma10.0
40arthritis10.0
41burns10.0
42joint disorders10.0
43osteoarthritis10.0
44sensorineural hearing loss10.0
45sialadenitis10.0
46chronic eosinophilic pneumonia10.0
47adjustment disorder10.0
48cochlear disease10.0
49arthropathy10.0
50auditory system disease10.0

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:

 51 (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 120)
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 clavicle 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
50 autosomal recessive inheritance HP:0000007
51 inguinal hernia HP:0000023
52 cryptorchidism HP:0000028
53 hypospadias HP:0000047
54 ectopic kidney HP:0000086
55 renal hypoplasia HP:0000089
56 hydronephrosis HP:0000126
57 aplasia of the uterus HP:0000151
58 wide mouth HP:0000154
59 cleft palate HP:0000175
60 thick lower lip vermilion HP:0000179
61 high palate HP:0000218
62 microcephaly HP:0000252
63 coarse facial features HP:0000280
64 hearing impairment HP:0000365
65 preauricular skin tag HP:0000384
66 choanal atresia HP:0000453
67 broad nasal tip HP:0000455
68 astigmatism HP:0000483
69 strabismus HP:0000486
70 ptosis HP:0000508
71 long eyelashes HP:0000527
72 myopia HP:0000545
73 thick eyebrow HP:0000574
74 hypotelorism HP:0000601
75 nystagmus HP:0000639
76 delayed eruption of teeth HP:0000684
77 aggressive behavior HP:0000718
78 autistic behavior HP:0000729
79 congenital diaphragmatic hernia HP:0000776
80 short sternum HP:0000879
81 single transverse palmar crease HP:0000954
82 sacral dimple HP:0000960
83 cutis marmorata HP:0000965
84 hemangioma HP:0001028
85 intellectual disability HP:0001249
86 seizures HP:0001250
87 muscular hypotonia HP:0001252
88 dandy-walker malformation HP:0001305
89 partial agenesis of the corpus callosum HP:0001338
90 joint laxity HP:0001388
91 intrauterine growth retardation HP:0001511
92 umbilical hernia HP:0001537
93 ventricular septal defect HP:0001629
94 atria septal defect HP:0001631
95 tetralogy of fallot HP:0001636
96 patent ductus arteriosus HP:0001643
97 hypoplasia of the corpus callosum HP:0002079
98 recurrent respiratory infections HP:0002205
99 sparse scalp hair HP:0002209
100 facial hypertrichosis HP:0002219
101 intestinal malrotation HP:0002566
102 intussusception HP:0002576
103 duodenal ulcer HP:0002588
104 gastric ulcer HP:0002592
105 scoliosis HP:0002650
106 coxa valga HP:0002673
107 delayed skeletal maturation HP:0002750
108 kyphosis HP:0002808
109 dislocated radial head HP:0003083
110 spina bifida occulta HP:0003298
111 short distal phalanx of the 5th finger HP:0004227
112 short stature HP:0004322
113 depressed nasal bridge HP:0005280
114 aplasia/hypoplasia of the patella HP:0006498
115 severe expressive language delay HP:0006863
116 hypoplastic fifth fingernail HP:0008398
117 feeding difficulties in infancy HP:0008872
118 postnatal growth retardation HP:0008897
119 lumbosacral hirsutism HP:0009747
120 short distal phalanx of the 5th toe HP:0100391

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 Syndrome22 24 SMARCE1

Anatomical Context for Coffin-Siris Syndrome

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MalaCards organs/tissues related to Coffin-Siris Syndrome:

33
Kidney, Bone, Testes, Cerebellum, Skin, Uterus, Heart

Animal Models for Coffin-Siris Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Coffin-Siris Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6ADAMTS6, SMARCA2, SMARCA4, SMARCB1, SOX11

Publications for Coffin-Siris Syndrome

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Articles related to Coffin-Siris Syndrome:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. (26543203)
2015
2
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. (25298701)
2014
3
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. (25099957)
2014
4
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. (24700502)
2014
5
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. (25168959)
2014
6
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. (24569609)
2014
7
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. (25169651)
2014
8
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. (25081545)
2014
9
De novo SOX11 mutations cause Coffin-Siris syndrome. (24886874)
2014
10
Coffin-Siris syndrome is a SWI/SNF complex disorder. (23815551)
2013
11
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
12
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (22426309)
2012
13
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (22426308)
2012
14
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. (21452752)
2011
15
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. (21059198)
2010
16
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. (20624500)
2010
17
Neuroblastoma in a patient with Coffin-Siris syndrome. (19842870)
2009
18
Is this the Coffin-Siris syndrome or the BOD syndrome? (19215055)
2009
19
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. (18203175)
2008
20
Upper gastrointestinal malformations in Coffin-Siris syndrome. (17523151)
2007
21
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. (16830329)
2006
22
Autosomal dominant syndrome resembling Coffin-Siris syndrome. (16691594)
2006
23
Anesthetic management in a child with Coffin-Siris syndrome. (15283836)
2004
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
Candidate region for Coffin-Siris syndrome at 7q32--&gt;34. (10925390)
2000
28
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. (10649791)
2000
29
Diaphragmatic hernia in the Coffin-Siris syndrome. (9555587)
1998
30
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. (9286450)
1997
31
Variant of Coffin-Siris syndrome or previously undescribed syndrome? (8870924)
1996
32
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. (8942018)
1996
33
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. (8591667)
1995
34
Hypoglycemia in Coffin-Siris syndrome. (8849011)
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 in two siblings. (3725452)
1986
42
Ocular anomalies in Coffin-Siris syndrome. (4069596)
1985
43
The Coffin-Siris syndrome: report of a family and further delineation. (6499251)
1984
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

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Clinvar genetic disease variations for Coffin-Siris Syndrome:

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1SMARCA4NM_001128849.1(SMARCA4): c.3922C> T (p.Arg1308Trp)single nucleotide variantLikely pathogenicrs587779750GRCh37Chr 19, 11144847: 11144847
2SOX11NM_003108.3(SOX11): c.347A> G (p.Tyr116Cys)single nucleotide variantPathogenicrs587777479GRCh37Chr 2, 5833200: 5833200
3SOX11NM_003108.3(SOX11): c.178T> C (p.Ser60Pro)single nucleotide variantPathogenicrs587777480GRCh38Chr 2, 5692899: 5692899
4ARID1BNM_020732.3(ARID1B): c.2692C> T (p.Arg898Ter)single nucleotide variantPathogenicrs794727977GRCh37Chr 6, 157469898: 157469898
5ARID1ANM_006015.4(ARID1A): c.31_56del26 (p.Ser11Alafs)deletionPathogenicrs797045262GRCh37Chr 1, 27022925: 27022950
6ARID1ANM_006015.4(ARID1A): c.394delG (p.Val132Trpfs)deletionPathogenicrs797045263GRCh37Chr 1, 27023288: 27023288
7ARID1ANM_006015.4(ARID1A): c.5138T> C (p.Leu1713Pro)single nucleotide variantLikely pathogenicrs797045264GRCh37Chr 1, 27105527: 27105527
8ARID1BNM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter)single nucleotide variantPathogenicrs753933273GRCh38Chr 6, 157084773: 157084773
9ARID1BNM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter)single nucleotide variantPathogenicrs797045272GRCh37Chr 6, 157406006: 157406006
10ARID1BNM_020732.3(ARID1B): c.4110G> A (p.Pro1370=)single nucleotide variantLikely pathogenicrs797045277GRCh38Chr 6, 157198907: 157198907
11ARID1BNM_020732.3(ARID1B): c.4336C> T (p.Gln1446Ter)single nucleotide variantLikely pathogenicrs797045278GRCh38Chr 6, 157200930: 157200930
12ARID1BNM_020732.3(ARID1B): c.5056dupT (p.Tyr1686Leufs)duplicationPathogenicrs797045279GRCh37Chr 6, 157527331: 157527331
13ARID1BNM_020732.3(ARID1B): c.5151delG (p.Lys1718Argfs)deletionPathogenicrs797045280GRCh38Chr 6, 157206292: 157206292
14ARID1BNM_020732.3(ARID1B): c.5153delA (p.Lys1718Argfs)deletionPathogenicrs797045281GRCh38Chr 6, 157206294: 157206294
15ARID1BNM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter)single nucleotide variantPathogenicrs797045282GRCh37Chr 6, 157527679: 157527679
16ARID1BNM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter)single nucleotide variantPathogenicrs797045283GRCh37Chr 6, 157528243: 157528243
17SMARCB1NM_003073.3(SMARCB1): c.1087A> G (p.Lys363Glu)single nucleotide variantLikely pathogenicrs797045989GRCh38Chr 22, 23833672: 23833672
18SMARCB1SMARCB1, LYS364DELdeletionPathogenic
19SMARCB1NM_003073.3(SMARCB1): c.1130G> A (p.Arg377His)single nucleotide variantPathogenicrs387906812GRCh37Chr 22, 24176339: 24176339
20ARID1AARID1A, 31_56DELdeletionPathogenic
21ARID1ANM_006015.4(ARID1A): c.2758C> T (p.Gln920Ter)single nucleotide variantPathogenicrs387906845GRCh37Chr 1, 27092737: 27092737
22ARID1ANM_006015.4(ARID1A): c.4003C> T (p.Arg1335Ter)single nucleotide variantPathogenicrs387906846GRCh37Chr 1, 27100207: 27100207
23SMARCE1NM_003079.4(SMARCE1): c.218A> G (p.Tyr73Cys)single nucleotide variantLikely pathogenicrs387906857GRCh37Chr 17, 38793763: 38793763
24SMARCA4SMARCA4, LYS546DELdeletionPathogenic
25ARID1BNM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter)single nucleotide variantPathogenicrs387907140GRCh37Chr 6, 157517355: 157517355
26ARID1BARID1B, 11-BP DEL, NT6463deletionPathogenic
27ARID1BNM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter)single nucleotide variantPathogenicrs387907141GRCh37Chr 6, 157502271: 157502271
28ARID1BARID1B, 2-BP DEL, 3323AAdeletionPathogenic
29ARID1BARID1B, TYR1346TERsingle nucleotide variantPathogenic
30ARID1BNM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter)single nucleotide variantPathogenicrs387907142GRCh37Chr 6, 157222636: 157222636
31ARID1BARID1B, 1-BP DEL, 5632GdeletionPathogenic
32ARID1BNM_020732.3(ARID1B): c.5329A> T (p.Lys1777Ter)single nucleotide variantPathogenicrs387907143GRCh37Chr 6, 157527604: 157527604
33ARID1BNM_020732.3(ARID1B): c.3223C> T (p.Arg1075Ter)single nucleotide variantPathogenicrs387907144GRCh37Chr 6, 157502190: 157502190
34ARID1BARID1B, 10-BP DEL, NT4619deletionPathogenic
35SMARCB1NM_003073.3(SMARCB1): c.110G> A (p.Arg37His)single nucleotide variantPathogenicrs398122368GRCh37Chr 22, 24133959: 24133959

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8ARID1A, ARID1B, SMARCA4, SMARCC2
28.8SMARCA4, SMARCB1, SMARCC2, SMARCE1
3
Show member pathways
8.7SMARCA2, SMARCA4, SMARCB1, SMARCC2
48.4ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2
5
Show member pathways
8.0ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
6
Show member pathways
7.8ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
7
Show member pathways
7.8ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
8
Show member pathways
7.8ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2

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
1transcriptional repressor complexGO:00170539.8SMARCC2, SMARCE1
2npBAF complexGO:00715648.8ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
3BAF-type complexGO:00905448.7ARID1A, ARID1B, SMARCA2, SMARCB1, SMARCC2, SMARCE1
4SWI/SNF complexGO:00165148.5ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
5nuclear chromatinGO:00007908.5ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
6protein complexGO:00432348.5SMARCA4, SMARCB1, SMARCC2, SMARCE1
7nBAF complexGO:00715658.2ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
8nucleusGO:00056346.9ARID1A, ARID1B, BANF1, CMAS, PHF6, SMARCA2
9nucleoplasmGO:00056546.4ARID1A, ARID1B, BANF1, CMAS, PHF6, SMARCA2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1chromatin-mediated maintenance of transcriptionGO:004809610.5ARID1A, ARID1B
2positive regulation by host of viral transcriptionGO:004392310.5SMARCA4, SMARCB1
3DNA integrationGO:001507410.3BANF1, SMARCB1
4nucleosome disassemblyGO:00063379.1ARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCE1
5ATP-dependent chromatin remodelingGO:00430449.0ARID1A, SMARCA4, SMARCB1, SMARCC2, SMARCE1
6nervous system developmentGO:00073998.8ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1
7positive regulation of transcription, DNA-templatedGO:00458938.7ARID1A, SMARCA2, SMARCA4, SMARCC2, SOX11
8negative regulation of transcription, DNA-templatedGO:00458928.7SMARCA2, SMARCA4, SMARCC2, SMARCE1
9chromatin organizationGO:00063258.6ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2
10negative regulation of transcription from RNA polymerase II promoterGO:00001228.4ARID1A, SMARCA2, SMARCA4, SMARCC2, SOX11
11chromatin remodelingGO:00063388.3ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
12regulation of transcription from RNA polymerase II promoterGO:00063577.7ARID1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1
13transcription, DNA-templatedGO:00063517.7ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1Tat protein bindingGO:003095710.6SMARCA4, SMARCB1
2ligand-dependent nuclear receptor bindingGO:001692210.5ARID1A, SMARCE1
3DNA-dependent ATPase activityGO:000809410.1SMARCA2, SMARCA4
4hydrolase activity, acting on acid anhydridesGO:001681710.1SMARCA2, SMARCA4
5RNA polymerase II transcription coactivator activityGO:000110510.1SMARCA2, SMARCA4, SOX11
6histone bindingGO:00423939.6PHF6, SMARCA2, SMARCA4
7RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.2SMARCA4, SMARCB1, SMARCC2, SMARCE1
8nucleosomal DNA bindingGO:00314929.2SMARCA4, SMARCB1, SMARCC2, SMARCE1
9RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.2SMARCA4, SMARCB1, SMARCC2, SMARCE1
10chromatin bindingGO:00036828.6SMARCA2, SMARCA4, SMARCC2, SMARCE1
11transcription coactivator activityGO:00037138.2ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCC2
12DNA bindingGO:00036777.5ARID1A, ARID1B, BANF1, PHF6, SMARCB1, SMARCC2

Sources for Coffin-Siris Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet