MCID: CFF008
MIFTS: 59

Coffin-Siris Syndrome 1

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

Aliases & Classifications for Coffin-Siris Syndrome 1

MalaCards integrated aliases for Coffin-Siris Syndrome 1:

Name: Coffin-Siris Syndrome 1 53 71 28
Coffin-Siris Syndrome 53 12 23 49 24 55 71 36 28 13 41 14 69
Fifth Digit Syndrome 53 12 23 49 24 71
Mental Retardation, Autosomal Dominant 12 53 71 28 13 69
Css 53 55 71
Dwarfism-Onychodysplasia 12 24
Mrd12 53 71
Css1 53 71
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 49
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 24
Mental Retardation, Autosomal Dominant 12; Mrd12 53
Short Stature-Onychodysplasia. 12
Short Stature-Onychodysplasia 24
Coffin-Siris Syndrome; Css 53

Characteristics:

Orphanet epidemiological data:

55
coffin-siris syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

31
coffin-siris syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Coffin-Siris Syndrome 1

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Coffin-Siris Syndrome 1, also known as coffin-siris syndrome, is related to short stature, onychodysplasia, facial dysmorphism, and hypotrichosis and eosinophilic granulomatosis with polyangiitis, and has symptoms including seizures, ptosis and nystagmus. An important gene associated with Coffin-Siris Syndrome 1 is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. Affiliated tissues include heart, bone and skin, and related phenotypes are Increased Nanog expression and Increased Nanog expression

OMIM : 53 Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). (135900)

NIH Rare Diseases : 49 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

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.

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.

GeneReviews: NBK131811

Related Diseases for Coffin-Siris Syndrome 1

Diseases in the Coffin-Siris Syndrome 1 family:

Coffin-Siris Syndrome 2 Coffin-Siris Syndrome 3
Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 5
Coffin-Siris Syndrome 6

Diseases related to Coffin-Siris Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.7
2 eosinophilic granulomatosis with polyangiitis 11.5
3 autoimmune lymphoproliferative syndrome 11.1
4 allergic angiitis 10.9
5 coffin-siris syndrome 2 10.9
6 coffin-siris syndrome 3 10.9
7 coffin-siris syndrome 4 10.9
8 coffin-siris syndrome 5 10.9
9 coffin-siris syndrome 6 10.9
10 familial rhabdoid tumor 10.5 SMARCA4 SMARCB1
11 central nervous system sarcoma 10.4 SMARCA4 SMARCB1
12 nicolaides-baraitser syndrome 10.4 ARID1B SMARCA2
13 alpha thalassemia-x-linked intellectual disability syndrome 10.3 SMARCA2 SMARCA4
14 enamel erosion 10.3 SMARCA2 SMARCA4
15 tooth erosion 10.3 SMARCA2 SMARCA4
16 tumor predisposition syndrome 10.3 SMARCA4 SMARCB1
17 root caries 10.3 SMARCA2 SMARCA4
18 churg-strauss syndrome 10.3
19 schimke immunoosseous dysplasia 10.2 SMARCA2 SMARCA4
20 atypical teratoid rhabdoid tumor 10.2 SMARCA4 SMARCB1
21 epilepsy, familial temporal lobe, 1 10.2 SMARCA2 SMARCA4
22 hypotrichosis 10.1
23 neurilemmomatosis 10.1 SMARCB1 SMARCC2 SMARCE1
24 autosomal recessive nonsyndromic deafness 86 10.1 ENSG00000260272 TBC1D24
25 deafness, autosomal dominant 65 10.1 ENSG00000260272 TBC1D24
26 hypertrichosis 10.0 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
27 gingival disease 9.9 SMARCA2 SMARCA4
28 myositis 9.8
29 silver-russell syndrome 9.8
30 mental retardation, x-linked, syndromic, snyder-robinson type 9.8
31 asthma 9.8
32 sialadenitis 9.8
33 dermatitis 9.8
34 pneumonia 9.8
35 eosinophilic pneumonia 9.8
36 chronic eosinophilic pneumonia 9.8
37 chronic actinic dermatitis 9.8
38 borjeson-forssman-lehmann syndrome 9.2 ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4

Graphical network of the top 20 diseases related to Coffin-Siris Syndrome 1:



Diseases related to Coffin-Siris Syndrome 1

Symptoms & Phenotypes for Coffin-Siris Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Mouth:
thick lower lip vermilion
thin upper lip vermilion
large mouth

Skin Nails Hair Hair:
sparse scalp hair
long eyelashes
hypertrichosis
bushy eyebrows
lumbosacral hirsutism

Head And Neck Face:
coarse facies
facial hypertrichosis

Growth Height:
short stature (in some patients)

Respiratory:
frequent upper and lower respiratory tract infections (early life)

Skeletal Feet:
hypoplastic to absent terminal phalanges (especially fifth toe)

Head And Neck Eyes:
visual impairment
strabismus
long eyelashes
downslanting palpebral fissures
bushy eyebrows

Head And Neck Nose:
broad nasal tip

Skeletal Hands:
single transverse palmar crease
hypoplastic to absent terminal phalanges (especially fifth finger)
prominent distal phalanges
prominent interphalangeal joints

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
severe expressive language delay
seizures (in some patients)
moderate to severe hypotonia
more
Head And Neck Teeth:
delayed dentition

Abdomen Gastroin testinal:
feeding problems

Skin Nails Hair Nails:
hypoplastic to absent fifth finger- and toenails


Clinical features from OMIM:

135900

Human phenotypes related to Coffin-Siris Syndrome 1:

55 31 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
3 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
4 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
6 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
7 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
8 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
9 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
10 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
12 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
13 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
14 abnormality of the dentition 55 31 hallmark (90%) Very frequent (99-80%) HP:0000164
15 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
16 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
17 thick eyebrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0000574
18 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
19 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
20 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
21 ectopic kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000086
22 thick lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000179
23 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
24 coxa valga 55 31 occasional (7.5%) Occasional (29-5%) HP:0002673
25 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
26 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
27 generalized hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0002230
28 abnormality of the hip bone 55 31 occasional (7.5%) Occasional (29-5%) HP:0003272
29 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
30 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
31 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
32 aplasia/hypoplasia of the cerebellum 55 31 frequent (33%) Frequent (79-30%) HP:0007360
33 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
34 short philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000322
35 depressed nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000457
36 bilateral single transverse palmar creases 55 31 occasional (7.5%) Occasional (29-5%) HP:0007598
37 elbow dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0003042
38 lacrimation abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0000632
39 spina bifida occulta 55 31 occasional (7.5%) Occasional (29-5%) HP:0003298
40 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
41 long eyelashes 55 31 hallmark (90%) Very frequent (99-80%) HP:0000527
42 abnormality of the clavicle 55 31 occasional (7.5%) Occasional (29-5%) HP:0000889
43 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
44 partial agenesis of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001338
45 dandy-walker malformation 55 31 frequent (33%) Frequent (79-30%) HP:0001305
46 congenital diaphragmatic hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000776
47 cutis marmorata 55 31 occasional (7.5%) Occasional (29-5%) HP:0000965
48 hypoplasia of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002079
49 slow-growing hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002217
50 abnormality of the intervertebral disk 55 31 occasional (7.5%) Occasional (29-5%) HP:0005108

GenomeRNAi Phenotypes related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

25 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 10.05 SMARCE1 SETD5 ARID1A BANF1 SMARCA4 SMARCB1
2 Increased Nanog expression GR00371-A-2 10.05 SMARCE1 ARID2 SETD5 SOX11
3 Increased Nanog expression GR00371-A-3 10.05 ARID2 SETD5 ARID1A
4 Increased Nanog expression GR00371-A-4 10.05 SETD5 SOX11
5 Increased Nanog expression GR00371-A-5 10.05 SETD5 ARID1A BANF1
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 SMARCE1 SMARCB1
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 SMARCE1 ARID1A FAM3C SMARCB1
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 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 ADAMTS6 SETD5 SMARCA2 SMARCA4 SMARCB1 SOX11
2 immune system MP:0005387 9.61 ADAMTS6 ARID1A ARID1B ARID2 SETD5 SMARCA4
3 skeleton MP:0005390 9.23 SMARCA2 SMARCA4 SOX11 WNT16 ADAMTS6 ARID1A

Drugs & Therapeutics for Coffin-Siris Syndrome 1

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 1

Cochrane evidence based reviews: coffin-siris syndrome

Genetic Tests for Coffin-Siris Syndrome 1

Genetic tests related to Coffin-Siris Syndrome 1:

# Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 1 28 ARID1B
2 Mental Retardation, Autosomal Dominant 12 28 ARID1B
3 Coffin-Siris Syndrome 28

Anatomical Context for Coffin-Siris Syndrome 1

MalaCards organs/tissues related to Coffin-Siris Syndrome 1:

38
Heart, Bone, Skin, Kidney, Uterus, Cerebellum

Publications for Coffin-Siris Syndrome 1

Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 69)
# Title Authors Year
1
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. ( 28124119 )
2017
2
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. ( 28608987 )
2017
3
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. ( 27264538 )
2016
4
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. ( 27264197 )
2016
5
Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. ( 27672547 )
2016
6
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. ( 26543203 )
2015
7
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. ( 25099957 )
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
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. ( 24700502 )
2014
12
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. ( 25298701 )
2014
13
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. ( 25168959 )
2014
14
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
15
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. ( 25169447 )
2014
16
De novo SOX11 mutations cause Coffin-Siris syndrome. ( 24886874 )
2014
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
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
20
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. ( 22426308 )
2012
21
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. ( 22711679 )
2012
22
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
23
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. ( 22426309 )
2012
24
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. ( 21452752 )
2011
25
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. ( 21059198 )
2010
26
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. ( 20624500 )
2010
27
Neuroblastoma in a patient with Coffin-Siris syndrome. ( 19842870 )
2009
28
Is this the Coffin-Siris syndrome or the BOD syndrome? ( 19215055 )
2009
29
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )
2008
30
Upper gastrointestinal malformations in Coffin-Siris syndrome. ( 17523151 )
2007
31
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. ( 16830329 )
2006
32
Autosomal dominant syndrome resembling Coffin-Siris syndrome. ( 16691594 )
2006
33
Anesthetic management in a child with Coffin-Siris syndrome. ( 15283836 )
2004
34
Premature thelarche in Coffin-Siris syndrome. ( 12910500 )
2003
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
Difficult airway in a patient with Coffin-Siris syndrome. ( 11159267 )
2001
38
Candidate region for Coffin-Siris syndrome at 7q32-->34. ( 10925390 )
2000
39
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. ( 10649791 )
2000
40
Diaphragmatic hernia in the Coffin-Siris syndrome. ( 9555587 )
1998
41
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. ( 9286450 )
1997
42
Variant of Coffin-Siris syndrome or previously undescribed syndrome? ( 8870924 )
1996
43
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. ( 8942018 )
1996
44
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. ( 8591667 )
1995
45
Hypoglycemia in Coffin-Siris syndrome. ( 8849011 )
1995
46
Coffin-Siris Syndrome ( 23556151 )
1993
47
Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. ( 1493645 )
1992
48
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. ( 1724113 )
1991
49
Coffin-Siris syndrome with normal plasma biotinidase activity. ( 1915529 )
1991
50
Coffin-Siris syndrome. ( 1865473 )
1991

Variations for Coffin-Siris Syndrome 1

ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARID1B NM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter) single nucleotide variant Pathogenic rs387907140 GRCh37 Chromosome 6, 157517355: 157517355
2 ARID1B NM_020732.3(ARID1B): c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs) deletion Pathogenic rs876657379 GRCh37 Chromosome 6, 157528738: 157528748
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 GRCh37 Chromosome 6, 157527907: 157527907
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 GRCh37 Chromosome 6, 157522347: 157522356
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 GRCh37 Chromosome 6, 157406006: 157406006
14 ARID1B NM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter) single nucleotide variant Pathogenic rs797045282 GRCh37 Chromosome 6, 157527679: 157527679
15 ARID1B NM_020732.3(ARID1B): c.5056dupT (p.Tyr1686Leufs) duplication Pathogenic rs797045279 GRCh37 Chromosome 6, 157527331: 157527331
16 ARID1B NM_020732.3(ARID1B): c.5151delG (p.Lys1718Argfs) deletion Pathogenic rs797045280 GRCh38 Chromosome 6, 157206292: 157206292
17 ARID1B NM_020732.3(ARID1B): c.5153delA (p.Lys1718Argfs) deletion Pathogenic rs797045281 GRCh38 Chromosome 6, 157206294: 157206294
18 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh37 Chromosome 6, 157528243: 157528243
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 GRCh37 Chromosome 6, 157528530: 157528531
22 ARID1B NM_020732.3(ARID1B): c.5570_5573delAAGA (p.Lys1857Serfs) deletion Pathogenic rs886041706 GRCh37 Chromosome 6, 157527845: 157527848
23 ARID1B NM_020732.3(ARID1B): c.5025+1G> A single nucleotide variant Likely pathogenic rs1057518984 GRCh38 Chromosome 6, 157203997: 157203997
24 ARID1B NM_001346813.1(ARID1B): c.3406_3407dupAA (p.Pro1137Serfs) duplication Likely pathogenic rs1057519009 GRCh37 Chromosome 6, 157502253: 157502254
25 ARID1B NM_020732.3(ARID1B): c.3689+1G> C single nucleotide variant Pathogenic rs1057518691 GRCh37 Chromosome 6, 157510915: 157510915
26 ARID1B NM_020732.3(ARID1B): c.3096_3100delCAAAG (p.Lys1033Argfs) deletion Likely pathogenic rs1131692263 GRCh38 Chromosome 6, 157174078: 157174082
27 ARID1B NM_020732.3(ARID1B): c.5830C> T (p.Arg1944Ter) single nucleotide variant Pathogenic rs1028186690 GRCh37 Chromosome 6, 157528105: 157528105
28 ARID1A NM_006015.5(ARID1A): c.6410C> A (p.Ala2137Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 27106799: 27106799
29 ARID1B NM_020732.3(ARID1B): c.1483C> T (p.Gln495Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 156779412: 156779412
30 ARID1B NM_020732.3(ARID1B): c.1899dup (p.Ser634Valfs) duplication Pathogenic GRCh38 Chromosome 6, 156901498: 156901498
31 ARID1B NM_020732.3(ARID1B): c.2465dup (p.Gln823Profs) duplication Pathogenic GRCh37 Chromosome 6, 157454255: 157454255
32 ARID1B NM_020732.3(ARID1B): c.3430C> T (p.Gln1144Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 157184315: 157184315
33 ARID1B NM_020732.3(ARID1B): c.3450delT (p.Phe1150Leufs) deletion Pathogenic GRCh38 Chromosome 6, 157184335: 157184335
34 ARID1B NM_020732.3(ARID1B): c.3898C> T (p.Gln1300Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 157517334: 157517334
35 ARID1B NM_001346813.1(ARID1B): c.5514_5517delTGTT (p.Phe1838Leufs) deletion Pathogenic GRCh37 Chromosome 6, 157527669: 157527672
36 ARID1B NM_001346813.1(ARID1B): c.1802dup (p.Tyr601Terfs) duplication Pathogenic GRCh38 Chromosome 6, 156901440: 156901440
37 ARID1B NM_020732.3(ARID1B): c.1960C> T (p.Gln654Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 6, 157256633: 157256633
38 ARID1B NM_001346813.1(ARID1B): c.2219dup (p.Ile741Asnfs) duplication Pathogenic GRCh37 Chromosome 6, 157406016: 157406016
39 ARID1B NM_020732.3(ARID1B): c.3345+2T> G single nucleotide variant Pathogenic GRCh37 Chromosome 6, 157502314: 157502314
40 ARID1B NM_020732.3(ARID1B): c.6526C> T (p.Gln2176Ter) single nucleotide variant Likely pathogenic rs758120346 GRCh37 Chromosome 6, 157528801: 157528801

Copy number variations for Coffin-Siris Syndrome 1 from CNVD:

7
# 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 1

Search GEO for disease gene expression data for Coffin-Siris Syndrome 1.

Pathways for Coffin-Siris Syndrome 1

Pathways related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
2
Show member pathways
12.7 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
3
Show member pathways
12.28 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
4 12.2 ARID1A ARID2 SMARCA2 SMARCA4 SMARCB1 SMARCC2
5
Show member pathways
11.87 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
6
Show member pathways
11.59 SMARCA2 SMARCA4 SMARCB1 SMARCC2
7 11.4 ARID1A SMARCA2 SMARCE1
8
Show member pathways
11.01 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2

GO Terms for Coffin-Siris Syndrome 1

Cellular components related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.73 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
2 npBAF complex GO:0071564 9.63 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
3 nBAF complex GO:0071565 9.5 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
4 SWI/SNF superfamily-type complex GO:0070603 9.37 ARID1A ARID1B
5 SWI/SNF complex GO:0016514 9.17 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
6 nucleus GO:0005634 10.18 ARID1A ARID1B ARID2 BANF1 PHF6 SETD5
7 nucleoplasm GO:0005654 10.06 ARID1A ARID1B ARID2 BANF1 PHF6 SETD5

Biological processes related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 ARID1A PHF6 SMARCA2 SMARCA4 SOX11
2 positive regulation of transcription, DNA-templated GO:0045893 9.92 ARID1A SMARCA2 SMARCA4 SMARCC2 SOX11
3 nervous system development GO:0007399 9.92 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
4 regulation of transcription by RNA polymerase II GO:0006357 9.88 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
5 covalent chromatin modification GO:0016569 9.86 ARID1A ARID1B ARID2 SETD5 SMARCA4 SMARCB1
6 chromatin remodeling GO:0006338 9.7 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
7 positive regulation by host of viral transcription GO:0043923 9.54 SMARCA4 SMARCB1
8 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.51 SMARCA4 SMARCB1
9 chromatin-mediated maintenance of transcription GO:0048096 9.49 ARID1A ARID1B
10 positive regulation of glucose mediated signaling pathway GO:1902661 9.46 SMARCA4 SMARCB1
11 optic cup formation involved in camera-type eye development GO:0003408 9.43 ARID1A WNT16
12 ATP-dependent chromatin remodeling GO:0043044 9.43 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
13 nucleosome disassembly GO:0006337 9.1 ARID1A ARID2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
14 regulation of transcription, DNA-templated GO:0006355 10.18 ARID1A ARID1B ARID2 PHF6 SETD5 SMARCA2
15 transcription, DNA-templated GO:0006351 10.07 ARID1A ARID1B ARID2 PHF6 SETD5 SMARCA2

Molecular functions related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.96 ARID1A ARID1B ARID2 BANF1 PHF6 SMARCA2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.81 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 RNA polymerase II transcription coactivator activity GO:0001105 9.5 SMARCA2 SMARCA4 SOX11
6 ligand-dependent nuclear receptor binding GO:0016922 9.48 ARID1A SMARCE1
7 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.46 SMARCA4 SMARCB1 SMARCC2 SMARCE1
8 Tat protein binding GO:0030957 9.43 SMARCA4 SMARCB1
9 hydrolase activity, acting on acid anhydrides GO:0016817 9.4 SMARCA2 SMARCA4
10 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.37 SMARCA4 SMARCB1
11 nucleosomal DNA binding GO:0031492 9.26 SMARCA4 SMARCB1 SMARCC2 SMARCE1
12 transcription coactivator activity GO:0003713 9.17 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2

Sources for Coffin-Siris Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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