MCID: CFF008
MIFTS: 51

Coffin-Siris Syndrome 1

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

Aliases & Classifications for Coffin-Siris Syndrome 1

MalaCards integrated aliases for Coffin-Siris Syndrome 1:

Name: Coffin-Siris Syndrome 1 54 71 29
Coffin-Siris Syndrome 12 23 50 24 25 56 71 29 13 42 14 69
Fifth Digit Syndrome 12 23 50 24 25 71
Mental Retardation, Autosomal Dominant 12 71 29 13 69
Dwarfism-Onychodysplasia 12 25
Css 56 71
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
Mrd12 71
Css1 71

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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

32
coffin-siris syndrome 1:
Inheritance autosomal recessive 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 coffin-siris syndrome 5, and has symptoms including short stature, scoliosis and long eyelashes. 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 kidney, and related phenotypes are Increased Nanog expression and immune system

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

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.

OMIM : 54
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)

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 5
Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 3
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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
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 coffin-siris syndrome 4 12.5
4 coffin-siris syndrome 3 12.5
5 coffin-siris syndrome 2 12.5
6 eosinophilic granulomatosis with polyangiitis 11.4
7 churg-strauss syndrome 11.2
8 arid1b-related coffin-siris syndrome 11.2
9 autoimmune lymphoproliferative syndrome 11.0
10 allergic angiitis 10.8
11 ehlers-danlos syndrome, vascular-like type 10.7 SMARCA4 SMARCB1
12 urethral urothelial papilloma 10.6 SMARCA4 SMARCB1
13 albinism, oculocutaneous, type iii 10.6 ARID1B SMARCA2
14 kluver-bucy syndrome 10.5 SMARCA2 SMARCA4
15 alzheimer's disease 7 10.5 SMARCA2 SMARCA4
16 basal cell carcinoma 10.4 SMARCA2 SMARCA4
17 infertility due to extratesticular cause 10.4 SMARCA2 SMARCA4
18 aica-ribosiduria due to atic deficiency 10.4 SMARCA2 SMARCA4
19 immunodeficiency, common variable, 10 10.3 SMARCA2 SMARCA4
20 cholera 10.3 SMARCA2 SMARCA4
21 bacteremia 10.3 SMARCA4 SMARCB1
22 you-hoover-fong syndrome 10.1 ENSG00000260272 TBC1D24
23 surfactant metabolism dysfunction, pulmonary, 5 10.1 SMARCB1 SMARCC2 SMARCE1
24 deafness, autosomal dominant 65 10.1 ENSG00000260272 TBC1D24
25 temporal lobe neoplasm 10.1 SMARCA4 SMARCB1
26 hypotrichosis 10.0
27 brain stem cancer 10.0 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
28 chronic actinic dermatitis 9.7
29 sialadenitis 9.7
30 dermatitis 9.7
31 pneumonia 9.7
32 eosinophilic pneumonia 9.7
33 myositis 9.7
34 chronic eosinophilic pneumonia 9.7
35 asthma 9.7
36 cardiomyopathy 9.7
37 silver-russell syndrome 9.7
38 mental retardation, x-linked syndromic, christianson type 9.0 ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4
39 estrogen resistance 4.7 ADAMTS6 ARID1A ARID1B ARID2 BANF1 ENSG00000260272

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:

54

Growth- Height:
short stature (in some patients)

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

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

Abdomen- Gastroin testinal:
feeding problems

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

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

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

Head And Neck- Face:
coarse facies
facial hypertrichosis

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

Head And Neck- Teeth:
delayed dentition

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

Neurologic- Central Nervous System:
delayed psychomotor development
mental retardation
seizures (in some patients)
hypoplastic corpus callosum (in some patients)
severe expressive language delay
more
Head And Neck- Nose:
broad nasal tip

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


Clinical features from OMIM:

135900

Human phenotypes related to Coffin-Siris Syndrome 1:

56 32 (show top 50) (show all 97)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 long eyelashes 56 32 hallmark (90%) Very frequent (99-80%) HP:0000527
4 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
5 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
6 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
7 wide mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000154
8 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
9 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
10 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
11 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
12 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
13 coxa valga 56 32 occasional (7.5%) Occasional (29-5%) HP:0002673
14 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
15 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
16 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
17 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
18 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
19 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
20 elbow dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0003042
21 short philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000322
22 cutis marmorata 56 32 occasional (7.5%) Occasional (29-5%) HP:0000965
23 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
24 hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002079
25 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
26 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
27 partial agenesis of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0001338
28 spina bifida occulta 56 32 occasional (7.5%) Occasional (29-5%) HP:0003298
29 dandy-walker malformation 56 32 frequent (33%) Frequent (79-30%) HP:0001305
30 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
31 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
32 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
33 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
34 slow-growing hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002217
35 congenital diaphragmatic hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000776
36 ectopic kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000086
37 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
38 thick lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000179
39 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
40 depressed nasal ridge 56 32 frequent (33%) Frequent (79-30%) HP:0000457
41 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
42 bilateral single transverse palmar creases 56 32 occasional (7.5%) Occasional (29-5%) HP:0007598
43 thick eyebrow 56 32 hallmark (90%) Very frequent (99-80%) HP:0000574
44 abnormality of the hip bone 56 32 occasional (7.5%) Occasional (29-5%) HP:0003272
45 aplasia/hypoplasia of the cerebellum 56 32 frequent (33%) Frequent (79-30%) HP:0007360
46 lacrimation abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0000632
47 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
48 abnormality of the clavicle 56 32 occasional (7.5%) Occasional (29-5%) HP:0000889
49 abnormality of the intervertebral disk 56 32 occasional (7.5%) Occasional (29-5%) HP:0005108
50 aplasia/hypoplasia of the patella 56 32 frequent (33%) Frequent (79-30%) HP:0006498

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 10.05 SETD5 SMARCE1 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.56 SMARCB1 SMARCE1 SOX11 ADAMTS6 ARID1A ARID1B
2 digestive/alimentary MP:0005381 9.55 ADAMTS6 SMARCA2 SMARCA4 SMARCB1 SOX11
3 skeleton MP:0005390 9.23 ADAMTS6 ARID1A FAM3C SETD5 SMARCA2 SMARCA4

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:

id Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 1 29
2 Mental Retardation, Autosomal Dominant 12 29
3 Coffin-Siris Syndrome 29 24 SMARCE1

Anatomical Context for Coffin-Siris Syndrome 1

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

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

Publications for Coffin-Siris Syndrome 1

Variations for Coffin-Siris Syndrome 1

ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

6 (show all 39)
id 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.5056dupT (p.Tyr1686Leufs) duplication Pathogenic rs797045279 GRCh37 Chromosome 6, 157527331: 157527331
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 GRCh37 Chromosome 6, 157527679: 157527679
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_001346813.1(ARID1B): c.3406_3407dupAA (p.Pro1137Serfs) duplication Likely pathogenic rs1057519009 GRCh37 Chromosome 6, 157502253: 157502254
24 ARID1B NM_020732.3(ARID1B): c.5025+1G> A single nucleotide variant Likely pathogenic rs1057518984 GRCh37 Chromosome 6, 157525131: 157525131
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 ARID1B NM_020732.3(ARID1B): c.1483C> T (p.Gln495Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 156779412: 156779412
29 ARID1B NM_020732.3(ARID1B): c.1899dup (p.Ser634Valfs) duplication Pathogenic GRCh38 Chromosome 6, 156901498: 156901498
30 ARID1B NM_020732.3(ARID1B): c.2465dup (p.Gln823Profs) duplication Pathogenic GRCh37 Chromosome 6, 157454255: 157454255
31 ARID1B NM_020732.3(ARID1B): c.3430C> T (p.Gln1144Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 157184315: 157184315
32 ARID1B NM_020732.3(ARID1B): c.3450delT (p.Phe1150Leufs) deletion Pathogenic GRCh38 Chromosome 6, 157184335: 157184335
33 ARID1B NM_020732.3(ARID1B): c.3898C> T (p.Gln1300Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 157517334: 157517334
34 ARID1B NM_001346813.1(ARID1B): c.5514_5517delTGTT (p.Phe1838Leufs) deletion Pathogenic GRCh37 Chromosome 6, 157527669: 157527672
35 ARID1B NM_001346813.1(ARID1B): c.1802dup (p.Tyr601Terfs) duplication Pathogenic GRCh38 Chromosome 6, 156901440: 156901440
36 ARID1B NM_020732.3(ARID1B): c.1960C> T (p.Gln654Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 157256633: 157256633
37 ARID1B NM_001346813.1(ARID1B): c.2219dup (p.Ile741Asnfs) duplication Pathogenic GRCh37 Chromosome 6, 157406016: 157406016
38 ARID1B NM_020732.3(ARID1B): c.3345+2T> G single nucleotide variant Pathogenic GRCh37 Chromosome 6, 157502314: 157502314
39 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
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 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
2
Show member pathways
12.6 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
3 12.09 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2
4
Show member pathways
11.67 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
5
Show member pathways
11.48 SMARCA2 SMARCA4 SMARCB1 SMARCC2
6 11.36 ARID1A SMARCA2 SMARCE1
7
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:

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 9.73 ARID1A ARID1B ARID2 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 nucleus GO:0005634 10.14 ARID1A ARID1B ARID2 BANF1 PHF6 SMARCA2
7 nucleoplasm GO:0005654 10.07 ARID1A ARID1B ARID2 BANF1 PHF6 SMARCA2

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.92 ARID1A SMARCA2 SMARCA4 SMARCC2 SOX11
2 nervous system development GO:0007399 9.92 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
3 regulation of transcription from RNA polymerase II promoter GO:0006357 9.88 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
4 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.86 ARID1A SMARCA2 SMARCA4 SOX11
5 covalent chromatin modification GO:0016569 9.8 ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCC2
6 positive regulation by host of viral transcription GO:0043923 9.55 SMARCA4 SMARCB1
7 ATP-dependent chromatin remodeling GO:0043044 9.55 ARID1A SMARCA4 SMARCB1 SMARCC2 SMARCE1
8 DNA integration GO:0015074 9.54 BANF1 SMARCB1
9 chromatin-mediated maintenance of transcription GO:0048096 9.51 ARID1A ARID1B
10 chromatin remodeling GO:0006338 9.5 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
11 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1901838 9.49 SMARCA4 SMARCB1
12 positive regulation of glucose mediated signaling pathway GO:1902661 9.46 SMARCA4 SMARCB1
13 optic cup formation involved in camera-type eye development GO:0003408 9.43 ARID1A WNT16
14 nucleosome disassembly GO:0006337 9.1 ARID1A ARID2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
15 regulation of transcription, DNA-templated GO:0006355 10.13 ARID1A ARID1B ARID2 PHF6 SMARCA2 SMARCA4
16 transcription, DNA-templated GO:0006351 10.02 ARID1A ARID1B ARID2 PHF6 SMARCA2 SMARCA4

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.96 ARID1A ARID1B ARID2 BANF1 PHF6 SMARCA2
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.8 SMARCA4 SMARCB1 SMARCC2 SMARCE1
3 histone binding GO:0042393 9.69 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
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59 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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