CSS1
MCID: CFF001
MIFTS: 51

Coffin-Siris Syndrome (CSS1) malady

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

Aliases & Classifications for Coffin-Siris Syndrome

Aliases & Descriptions for Coffin-Siris Syndrome:

Name: Coffin-Siris Syndrome 54 12 23 50 24 25 56 66 29 13 42 14 69
Fifth Digit Syndrome 12 23 50 24 25 66
Mental Retardation, Autosomal Dominant 12 66 69
Dwarfism-Onychodysplasia 12 25
Css 56 66
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 50
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 25
Short Stature-Onychodysplasia. 12
Short Stature-Onychodysplasia 25
Coffin-Siris Syndrome 1 66
Mrd12 66
Css1 66

Characteristics:

Orphanet epidemiological data:

56
coffin-siris syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

GeneReviews:

23
coffin-siris syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 135900
Disease Ontology 12 DOID:1925
NCIt 47 C35321
SNOMED-CT 64 10007009
Orphanet 56 ORPHA1465
MESH via Orphanet 43 C536436
UMLS via Orphanet 70 C0265338
ICD10 via Orphanet 34 Q87.1
MedGen 40 C0265338
UMLS 69 C0265338

Summaries for Coffin-Siris Syndrome

OMIM : 54 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 seizures, ptosis and nystagmus. An important gene associated with Coffin-Siris Syndrome is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include bone, kidney and heart, and related phenotypes are Increased Nanog expression and skeleton

Disease Ontology : 12 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 : 50 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 : 66 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: NBK131811

Related Diseases for Coffin-Siris Syndrome

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)
id Related Disease Score Top Affiliating Genes
1 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.6
2 coffin-siris syndrome 5 12.5
3 arid1b-related coffin-siris syndrome 12.2
4 arid1a-related coffin-siris syndrome 12.2
5 mental retardation, autosomal dominant 12 12.1
6 smarca4-related coffin-siris syndrome 12.1
7 smarcb1-related coffin-siris syndrome 12.1
8 smarce1-related coffin-siris syndrome 12.1
9 mental retardation, autosomal dominant 15 11.8
10 mental retardation, autosomal dominant 14 11.8
11 mental retardation, autosomal dominant 16 11.8
12 brachymorphism-onychodysplasia-dysphalangism syndrome 11.5
13 eosinophilic granulomatosis with polyangiitis 11.4
14 churg-strauss syndrome 11.2
15 autoimmune lymphoproliferative syndrome 11.0
16 allergic angiitis 10.8
17 obesity 10.3
18 ectopic aldosterone-producing tumor 10.3 SMARCA4 SMARCB1
19 alzheimer's disease 13 10.2 SMARCA2 SMARCA4
20 mental retardation, autosomal recessive 16 10.2 ARID1B SMARCA2
21 cone dystrophy 4 10.2 SMARCA2 SMARCA4
22 kluver-bucy syndrome 10.2 SMARCA2 SMARCA4
23 3p- syndrome 10.2 SMARCA2 SMARCA4
24 bacteremia 10.2 SMARCA4 SMARCB1
25 hyperinsulinism 10.2
26 basal cell carcinoma 10.2 SMARCA2 SMARCA4
27 infertility due to extratesticular cause 10.1 SMARCA2 SMARCA4
28 surfactant metabolism dysfunction, pulmonary, 5 10.1 SMARCB1 SMARCC2 SMARCE1
29 coffin-lowry syndrome 10.0
30 door syndrome 10.0
31 growth hormone deficiency 10.0
32 neuroblastoma 10.0
33 epilepsy 10.0
34 medulloblastoma 10.0
35 biotinidase deficiency 10.0
36 pituitary hypoplasia 10.0
37 hypoglycemia 10.0
38 lymphangiosarcoma 10.0 ARID1A BANF1
39 hypotrichosis 10.0
40 cardiomyopathy 9.7
41 sialadenitis 9.7
42 dermatitis 9.7
43 asthma 9.7
44 chronic actinic dermatitis 9.7
45 pneumonia 9.7
46 eosinophilic pneumonia 9.7
47 myositis 9.7
48 silver-russell syndrome 9.7
49 chronic eosinophilic pneumonia 9.7
50 muscular dystrophy, limb-girdle, type 1f 8.0 ADAMTS6 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

Symptoms by clinical synopsis from OMIM:

135900

Clinical features from OMIM:

135900

Human phenotypes related to Coffin-Siris Syndrome:

56 32 (show top 50) (show all 96)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 ptosis 56 32 Occasional (29-5%) HP:0000508
3 nystagmus 56 32 Frequent (79-30%) HP:0000639
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
6 scoliosis 56 32 Frequent (79-30%) HP:0002650
7 kyphosis 56 32 Occasional (29-5%) HP:0002808
8 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
9 hearing impairment 56 32 Frequent (79-30%) HP:0000365
10 cataract 56 32 Occasional (29-5%) HP:0000518
11 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
12 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
13 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
14 abnormality of the teeth 56 32 Very frequent (99-80%) HP:0000164
15 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
16 microcephaly 56 32 Very frequent (99-80%) HP:0000252
17 thick eyebrow 56 32 Very frequent (99-80%) HP:0000574
18 short stature 56 32 Very frequent (99-80%) HP:0004322
19 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
20 cleft palate 56 32 Occasional (29-5%) HP:0000175
21 ectopic kidney 56 32 Occasional (29-5%) HP:0000086
22 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
23 strabismus 56 32 Frequent (79-30%) HP:0000486
24 coxa valga 56 32 Occasional (29-5%) HP:0002673
25 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
26 epicanthus 56 32 Occasional (29-5%) HP:0000286
27 generalized hirsutism 56 32 Very frequent (99-80%) HP:0002230
28 abnormality of the hip bone 56 32 Occasional (29-5%) HP:0003272
29 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
30 aplasia/hypoplasia of the cerebellum 56 32 Frequent (79-30%) HP:0007360
31 wide mouth 56 32 Frequent (79-30%) HP:0000154
32 short philtrum 56 32 Occasional (29-5%) HP:0000322
33 depressed nasal ridge 56 32 Frequent (79-30%) HP:0000457
34 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
35 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
36 bilateral single transverse palmar creases 56 32 Occasional (29-5%) HP:0007598
37 elbow dislocation 56 32 Frequent (79-30%) HP:0003042
38 lacrimation abnormality 56 32 Occasional (29-5%) HP:0000632
39 spina bifida occulta 56 32 Occasional (29-5%) HP:0003298
40 short distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009882
41 long eyelashes 56 32 Very frequent (99-80%) HP:0000527
42 abnormality of the clavicle 56 32 Occasional (29-5%) HP:0000889
43 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
44 partial agenesis of the corpus callosum 56 32 Occasional (29-5%) HP:0001338
45 dandy-walker malformation 56 32 Frequent (79-30%) HP:0001305
46 congenital diaphragmatic hernia 56 32 Occasional (29-5%) HP:0000776
47 cutis marmorata 56 32 Occasional (29-5%) HP:0000965
48 hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0002079
49 slow-growing hair 56 32 Very frequent (99-80%) HP:0002217
50 abnormality of the intervertebral disk 56 32 Occasional (29-5%) HP:0005108

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 10.02 ARID1A BANF1 SETD5 SMARCA4 SMARCB1 SMARCE1
2 Increased Nanog expression GR00371-A-2 10.02 SMARCE1 SOX11 SETD5
3 Increased Nanog expression GR00371-A-3 10.02 ARID1A SETD5
4 Increased Nanog expression GR00371-A-4 10.02 SOX11 SETD5
5 Increased Nanog expression GR00371-A-5 10.02 ARID1A BANF1 SETD5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.72 SMARCB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.72 SMARCB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.72 ARID1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.72 SMARCB1 SMARCE1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.72 FAM3C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.72 FAM3C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.72 ARID1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 FAM3C SMARCB1 SMARCE1 ARID1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 SMARCE1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.72 ARID1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.72 ARID1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.72 SMARCB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 SMARCE1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.72 SMARCE1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 ARID1A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.72 FAM3C
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 ARID1A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.72 SMARCB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 SMARCB1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.72 FAM3C
26 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.72 SMARCE1

MGI Mouse Phenotypes related to Coffin-Siris Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.23 ADAMTS6 ARID1A FAM3C SETD5 SMARCA2 SMARCA4

Drugs & Therapeutics for Coffin-Siris Syndrome

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome

Cochrane evidence based reviews: coffin-siris syndrome

Genetic Tests for Coffin-Siris Syndrome

Genetic tests related to Coffin-Siris Syndrome:

id Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 29 24 SMARCE1

Anatomical Context for Coffin-Siris Syndrome

MalaCards organs/tissues related to Coffin-Siris Syndrome:

39
Bone, Kidney, Heart, Skin, Uterus, Cerebellum, Pituitary

Publications for Coffin-Siris Syndrome

Articles related to Coffin-Siris Syndrome:

(show top 50) (show all 68)
id Title Authors Year
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

ClinVar genetic disease variations for Coffin-Siris Syndrome:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 ARID1B NM_020732.3(ARID1B): c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs) deletion Pathogenic rs876657379 GRCh37 Chromosome 6, 157528738: 157528748
2 ARID1B NM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter) single nucleotide variant Pathogenic rs387907140 GRCh37 Chromosome 6, 157517355: 157517355
3 ARID1B NM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter) single nucleotide variant Pathogenic rs387907141 GRCh37 Chromosome 6, 157502271: 157502271
4 ARID1B NM_020732.3(ARID1B): c.3323_3324delAA (p.Lys1108Argfs) deletion Pathogenic rs876657380 GRCh38 Chromosome 6, 157181156: 157181157
5 ARID1B NM_020732.3(ARID1B): c.4038T> A (p.Tyr1346Ter) single nucleotide variant Pathogenic rs748363079 GRCh37 Chromosome 6, 157519969: 157519969
6 ARID1B NM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter) single nucleotide variant Pathogenic rs387907142 GRCh37 Chromosome 6, 157222636: 157222636
7 ARID1B NM_020732.3(ARID1B): c.5632delG (p.Asp1878Metfs) deletion Pathogenic rs876657381 GRCh38 Chromosome 6, 157206773: 157206773
8 ARID1B NM_020732.3(ARID1B): c.5329A> T (p.Lys1777Ter) single nucleotide variant Pathogenic rs387907143 GRCh37 Chromosome 6, 157527604: 157527604
9 ARID1B NM_020732.3(ARID1B): c.3223C> T (p.Arg1075Ter) single nucleotide variant Pathogenic rs387907144 GRCh37 Chromosome 6, 157502190: 157502190
10 ARID1B NM_020732.3(ARID1B): c.4619_4628delACCAGACGCC (p.Gln1541Argfs) deletion Pathogenic rs876657382 GRCh38 Chromosome 6, 157201213: 157201222
11 ARID1B NM_020732.3(ARID1B): c.2692C> T (p.Arg898Ter) single nucleotide variant Pathogenic rs794727977 GRCh37 Chromosome 6, 157469898: 157469898
12 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh38 Chromosome 6, 157084773: 157084773
13 ARID1B NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs797045272 GRCh38 Chromosome 6, 157084872: 157084872
14 ARID1B NM_020732.3(ARID1B): c.5056dupT (p.Tyr1686Leufs) duplication Pathogenic rs797045279 GRCh38 Chromosome 6, 157206197: 157206197
15 ARID1B NM_020732.3(ARID1B): c.5151delG (p.Lys1718Argfs) deletion Pathogenic rs797045280 GRCh38 Chromosome 6, 157206292: 157206292
16 ARID1B NM_020732.3(ARID1B): c.5153delA (p.Lys1718Argfs) deletion Pathogenic rs797045281 GRCh38 Chromosome 6, 157206294: 157206294
17 ARID1B NM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter) single nucleotide variant Pathogenic rs797045282 GRCh38 Chromosome 6, 157206545: 157206545
18 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh38 Chromosome 6, 157207109: 157207109
19 ARID1B NM_020732.3(ARID1B): c.6100C> T (p.Gln2034Ter) single nucleotide variant Pathogenic rs869312697 GRCh37 Chromosome 6, 157528375: 157528375
20 ARID1B NM_020732.3(ARID1B): c.2242C> T (p.Gln748Ter) single nucleotide variant Pathogenic rs869312712 GRCh37 Chromosome 6, 157406000: 157406000
21 ARID1B NM_020732.3(ARID1B): c.6255_6256delCC (p.Cys2087Terfs) deletion Pathogenic rs886040958 GRCh38 Chromosome 6, 157207396: 157207397
22 ARID1B NM_001346813.1(ARID1B): c.3406_3407dupAA (p.Pro1137Serfs) duplication Likely pathogenic rs1057519009 GRCh37 Chromosome 6, 157502253: 157502254
23 ARID1B NM_020732.3(ARID1B): c.5025+1G> A single nucleotide variant Likely pathogenic rs1057518984 GRCh37 Chromosome 6, 157525131: 157525131
24 ARID1B NM_020732.3(ARID1B): c.3689+1G> C single nucleotide variant Pathogenic rs1057518691 GRCh37 Chromosome 6, 157510915: 157510915

Copy number variations for Coffin-Siris Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 219437 7 126900000 142800000 Copy number Coffin-Siris syndrome

Expression for Coffin-Siris Syndrome

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

Pathways for Coffin-Siris Syndrome

GO Terms for Coffin-Siris Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.8 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
2 BAF-type complex GO:0090544 9.65 ARID1A ARID1B SMARCB1 SMARCC2 SMARCE1
3 npBAF complex GO:0071564 9.63 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
4 SWI/SNF complex GO:0016514 9.5 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
5 nBAF complex GO:0071565 9.17 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
6 nucleoplasm GO:0005654 10.07 ARID1A ARID1B BANF1 CMAS PHF6 SMARCA2

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.89 ARID1A SMARCA2 SMARCA4 SMARCC2 SOX11
2 nervous system development GO:0007399 9.86 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
3 regulation of transcription from RNA polymerase II promoter GO:0006357 9.85 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
4 covalent chromatin modification GO:0016569 9.8 ARID1A ARID1B SMARCA4 SMARCB1 SMARCC2 SMARCE1
5 ATP-dependent chromatin remodeling GO:0043044 9.55 ARID1A SMARCA4 SMARCB1 SMARCC2 SMARCE1
6 positive regulation by host of viral transcription GO:0043923 9.52 SMARCA4 SMARCB1
7 DNA integration GO:0015074 9.51 BANF1 SMARCB1
8 chromatin-mediated maintenance of transcription GO:0048096 9.48 ARID1A ARID1B
9 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1901838 9.46 SMARCA4 SMARCB1
10 positive regulation of glucose mediated signaling pathway GO:1902661 9.43 SMARCA4 SMARCB1
11 optic cup formation involved in camera-type eye development GO:0003408 9.4 ARID1A WNT16
12 nucleosome disassembly GO:0006337 9.35 ARID1A SMARCA4 SMARCB1 SMARCC2 SMARCE1
13 chromatin remodeling GO:0006338 9.17 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
14 regulation of transcription, DNA-templated GO:0006355 10.15 ARID1A ARID1B PHF6 SMARCA2 SMARCA4 SMARCB1
15 transcription, DNA-templated GO:0006351 10.14 ARID1A ARID1B PHF6 SMARCA2 SMARCA4 SMARCB1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCB1
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.78 SMARCA4 SMARCB1 SMARCC2 SMARCE1
3 histone binding GO:0042393 9.67 PHF6 SMARCA2 SMARCA4
4 protein N-terminus binding GO:0047485 9.63 BANF1 SMARCA4 SMARCE1
5 DNA-dependent ATPase activity GO:0008094 9.52 SMARCA2 SMARCA4
6 ligand-dependent nuclear receptor binding GO:0016922 9.51 ARID1A SMARCE1
7 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.46 SMARCA4 SMARCB1 SMARCC2 SMARCE1
8 hydrolase activity, acting on acid anhydrides GO:0016817 9.43 SMARCA2 SMARCA4
9 RNA polymerase II transcription coactivator activity GO:0001105 9.43 SMARCA2 SMARCA4 SOX11
10 Tat protein binding GO:0030957 9.4 SMARCA4 SMARCB1
11 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.37 SMARCA4 SMARCB1
12 nucleosomal DNA binding GO:0031492 9.26 SMARCA4 SMARCB1 SMARCC2 SMARCE1
13 transcription coactivator activity GO:0003713 9.17 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2

Sources for Coffin-Siris Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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