CSS1
MCID: CFF008
MIFTS: 57

Coffin-Siris Syndrome 1 (CSS1)

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

Aliases & Classifications for Coffin-Siris Syndrome 1

MalaCards integrated aliases for Coffin-Siris Syndrome 1:

Name: Coffin-Siris Syndrome 1 58 12 76 30 6 15
Coffin-Siris Syndrome 58 12 77 25 54 26 60 76 38 30 13 6 45 15 41 74
Fifth Digit Syndrome 58 12 25 54 26 76
Mental Retardation, Autosomal Dominant 12 58 76 13 74
Mrd12 58 12 76
Css1 58 12 76
Css 58 60 76
Dwarfism-Onychodysplasia 12 26
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 54
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 26
Mental Retardation, Autosomal Dominant 12; Mrd12 58
Mental Retardation, Autosomal Dominant, Type 12 41
Autosomal Dominant Mental Retardation 12 12
Coffin-Siris Syndrome, Type 1 ) 41
Short Stature-Onychodysplasia. 12
Short Stature-Onychodysplasia 26
Coffin-Siris Syndrome; Css 58

Characteristics:

Orphanet epidemiological data:

60
coffin-siris syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

33
coffin-siris syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance for coffin-siris syndrome appears to be complete...

Classifications:



Summaries for Coffin-Siris Syndrome 1

UniProtKB/Swiss-Prot : 76 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 coffin-siris syndrome 3 and coffin-siris syndrome 2. An important gene associated with Coffin-Siris Syndrome 1 is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Chromatin organization and Gastric cancer. Affiliated tissues include heart, bone and kidney, and related phenotypes are intellectual disability and muscular hypotonia

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.

Genetics Home Reference : 26 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 : 54 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.

OMIM : 58 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)

Wikipedia : 77 Coffin–Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth... more...

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 Coffin-Siris Syndrome 7
Coffin-Siris Syndrome 8

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 3 32.0 CHSY1 SMARCB1
2 coffin-siris syndrome 2 31.9 ARID1A CHSY1 CRYBB1
3 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.9
4 brachymorphism-onychodysplasia-dysphalangism syndrome 11.8
5 autosomal dominant deafness-onychodystrophy syndrome 11.4
6 eosinophilic granulomatosis with polyangiitis 11.4
7 autoimmune lymphoproliferative syndrome 11.2
8 coffin-siris syndrome 4 11.0
9 coffin-siris syndrome 5 11.0
10 coffin-siris syndrome 6 11.0
11 coffin-siris syndrome 7 11.0
12 coffin-siris syndrome 8 11.0
13 alacrima, achalasia, and mental retardation syndrome 10.4
14 hyperinsulinism 10.4
15 churg-strauss syndrome 10.4
16 allergic angiitis 10.4
17 central nervous system sarcoma 10.3 SMARCA4 SMARCB1
18 rhabdoid cancer 10.3 SMARCA4 SMARCB1
19 diaphragmatic hernia, congenital 10.3
20 medulloblastoma 10.3
21 autism 10.3
22 craniosynostosis with fibular aplasia 10.3
23 biotinidase deficiency 10.3
24 neuroblastoma 10.3
25 coffin-lowry syndrome 10.3
26 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
27 choanal atresia, posterior 10.3
28 small cell carcinoma 10.3
29 microphthalmia 10.3
30 heart disease 10.3
31 epilepsy 10.3
32 astrocytoma 10.3
33 grade iii astrocytoma 10.3
34 pituitary hypoplasia 10.3
35 hypoglycemia 10.3
36 growth hormone deficiency 10.3
37 hypotrichosis 10.3
38 tumor predisposition syndrome 10.2 SMARCA4 SMARCB1
39 pulmonary alveolar microlithiasis 10.2
40 borjeson-forssman-lehmann syndrome 10.1 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
41 neurilemmomatosis 10.1 SMARCB1 SMARCE1
42 hypertrichosis 10.1 SMARCE1 ARID1A ARID1B ARID2 SMARCA4 SMARCB1
43 glioma susceptibility 1 9.9
44 myositis 9.9
45 asthma 9.9
46 stroke, ischemic 9.9
47 autism spectrum disorder 9.9
48 sialadenitis 9.9
49 dermatitis 9.9
50 glioblastoma multiforme 9.9

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

Human phenotypes related to Coffin-Siris Syndrome 1:

60 33 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 abnormality of the dentition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000164
6 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
7 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
8 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
9 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
10 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
11 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
12 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
13 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
14 long eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000527
15 slow-growing hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002217
16 hypoplastic fifth fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0008398
17 aplasia/hypoplasia of the distal phalanx of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009239
18 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
19 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
20 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
21 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
22 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
23 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
24 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
25 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
26 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
27 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
28 aplasia/hypoplasia of the cerebellum 60 33 frequent (33%) Frequent (79-30%) HP:0007360
29 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
30 depressed nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000457
31 elbow dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0003042
32 dandy-walker malformation 60 33 frequent (33%) Frequent (79-30%) HP:0001305
33 aplasia/hypoplasia of the patella 60 33 frequent (33%) Frequent (79-30%) HP:0006498
34 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
35 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
36 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
37 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
38 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
39 ectopic kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000086
40 coxa valga 60 33 occasional (7.5%) Occasional (29-5%) HP:0002673
41 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
42 abnormality of the hip bone 60 33 occasional (7.5%) Occasional (29-5%) HP:0003272
43 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
44 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
45 bilateral single transverse palmar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0007598
46 lacrimation abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000632
47 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
48 abnormality of the clavicle 60 33 occasional (7.5%) Occasional (29-5%) HP:0000889
49 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
50 partial agenesis of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001338

Symptoms via clinical synopsis from OMIM:

58
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

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

Head And Neck Face:
coarse facies
facial hypertrichosis

Head And Neck Teeth:
delayed dentition

Abdomen Gastrointestinal:
feeding problems

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

Clinical features from OMIM:

135900

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

27 (show all 46)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.1 CRYBB1 SMARCB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.1 CAPN12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.1 CAPN15 DPF2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.1 DPF2 SMARCB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.1 SMARCE1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.1 SRP9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.1 CRYBB1 DPF2 SMARCB1 SMARCE1 SRP9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.1 CAPN15
9 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.1 CAPN15
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.1 ARID1B CRYBB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.1 SRP9
12 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.1 CRYBB1 SRP9
13 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.1 ARID1B CRYBB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.1 ARID1B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.1 CAPN12 SRP9
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.1 ARID1B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.1 CAPN15 CRYBB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.1 DPF2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.1 SMARCB1 SMARCE1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.1 SMARCE1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.1 CRYBB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.1 DPF2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.1 SMARCB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.1 CAPN12 CAPN15
25 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.1 CRYBB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.1 SMARCE1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.1 CRYBB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.1 SMARCE1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.1 ARID1B CAPN12 CAPN15
30 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.1 CAPN12
31 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.1 CAPN15
32 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.1 CAPN12
33 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.1 SRP9
34 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.1 CAPN15
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.1 CAPN12
36 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.1 CAPN15
37 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.1 ARID1B
38 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.1 CAPN12
39 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.1 CAPN15 CRYBB1 SMARCB1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.1 CAPN12 SMARCB1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.1 SMARCE1
42 Increased Nanog expression GR00371-A-1 9.93 DPF2 SMARCE1 ARID1A SMARCA4 SMARCB1
43 Increased Nanog expression GR00371-A-2 9.93 ARID2 DPF2 SMARCE1 SOX11
44 Increased Nanog expression GR00371-A-3 9.93 ARID2 DPF2 ARID1A
45 Increased Nanog expression GR00371-A-4 9.93 SOX11
46 Increased Nanog expression GR00371-A-5 9.93 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 30 ARID1B
2 Coffin-Siris Syndrome 30

Anatomical Context for Coffin-Siris Syndrome 1

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

42
Heart, Bone, Kidney, Skin, Uterus, Cerebellum, Ovary

Publications for Coffin-Siris Syndrome 1

Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 81)
# Title Authors Year
1
Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation. ( 30581937 )
2019
2
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ( 30696996 )
2019
3
Raised intra-ocular pressure in the setting of Coffin-Siris syndrome. ( 30914783 )
2019
4
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. ( 29549119 )
2018
5
Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report. ( 30499906 )
2018
6
Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. ( 28787104 )
2018
7
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. ( 29429572 )
2018
8
Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome. ( 29504208 )
2018
9
A 69-year-old woman with Coffin-Siris syndrome. ( 30055038 )
2018
10
First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. ( 30276971 )
2018
11
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ( 30349098 )
2018
12
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. ( 28124119 )
2017
13
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. ( 28608987 )
2017
14
Successful difficult airway management of a child with Coffin-siris syndrome. ( 28781848 )
2017
15
Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. ( 27672547 )
2016
16
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. ( 27264538 )
2016
17
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. ( 27264197 )
2016
18
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. ( 26543203 )
2015
19
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. ( 25099957 )
2014
20
De novo SOX11 mutations cause Coffin-Siris syndrome. ( 24886874 )
2014
21
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
22
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. ( 24569609 )
2014
23
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. ( 24700502 )
2014
24
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. ( 25168959 )
2014
25
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. ( 25169447 )
2014
26
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. ( 25298701 )
2014
27
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ( 25169651 )
2014
28
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. ( 23929686 )
2013
29
Coffin-Siris syndrome is a SWI/SNF complex disorder. ( 23815551 )
2013
30
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
31
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. ( 22711679 )
2012
32
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
33
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. ( 22426309 )
2012
34
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. ( 21452752 )
2011
35
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. ( 20624500 )
2010
36
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. ( 21059198 )
2010
37
Is this the Coffin-Siris syndrome or the BOD syndrome? ( 19215055 )
2009
38
Neuroblastoma in a patient with Coffin-Siris syndrome. ( 19842870 )
2009
39
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )
2008
40
Upper gastrointestinal malformations in Coffin-Siris syndrome. ( 17523151 )
2007
41
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. ( 16830329 )
2006
42
Autosomal dominant syndrome resembling Coffin-Siris syndrome. ( 16691594 )
2006
43
Anesthetic management in a child with Coffin-Siris syndrome. ( 15283836 )
2004
44
Premature thelarche in Coffin-Siris syndrome. ( 12910500 )
2003
45
Dandy-Walker variant in Coffin-Siris syndrome. ( 11298377 )
2001
46
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. ( 11170086 )
2001
47
Difficult airway in a patient with Coffin-Siris syndrome. ( 11159267 )
2001
48
Candidate region for Coffin-Siris syndrome at 7q32--&amp;gt;34. ( 10925390 )
2000
49
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. ( 10649791 )
2000
50
Diaphragmatic hernia in the Coffin-Siris syndrome. ( 9555587 )
1998

Variations for Coffin-Siris Syndrome 1

ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

6 (show top 50) (show all 327)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh38 Chromosome 6, 157084773: 157084773
2 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh37 Chromosome 6, 157405907: 157405907
3 ARID1B NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs797045272 GRCh37 Chromosome 6, 157406006: 157406006
4 ARID1B NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs797045272 GRCh38 Chromosome 6, 157084872: 157084872
5 ARID1B NM_020732.3(ARID1B): c.4110G> A (p.Pro1370=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045277 GRCh37 Chromosome 6, 157520041: 157520041
6 ARID1B NM_020732.3(ARID1B): c.4110G> A (p.Pro1370=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045277 GRCh38 Chromosome 6, 157198907: 157198907
7 ARID1B NM_020732.3(ARID1B): c.4336C> T (p.Gln1446Ter) single nucleotide variant Likely pathogenic rs797045278 GRCh37 Chromosome 6, 157522064: 157522064
8 ARID1B NM_020732.3(ARID1B): c.4336C> T (p.Gln1446Ter) single nucleotide variant Likely pathogenic rs797045278 GRCh38 Chromosome 6, 157200930: 157200930
9 ARID1B NM_020732.3(ARID1B): c.5056dup (p.Tyr1686Leufs) duplication Pathogenic rs797045279 GRCh37 Chromosome 6, 157527331: 157527331
10 ARID1B NM_020732.3(ARID1B): c.5056dup (p.Tyr1686Leufs) duplication Pathogenic rs797045279 GRCh38 Chromosome 6, 157206197: 157206197
11 ARID1B NM_020732.3(ARID1B): c.5151del (p.Lys1718Argfs) deletion Pathogenic rs797045280 GRCh38 Chromosome 6, 157206292: 157206292
12 ARID1B NM_020732.3(ARID1B): c.5151del (p.Lys1718Argfs) deletion Pathogenic rs797045280 GRCh37 Chromosome 6, 157527426: 157527426
13 ARID1B NM_020732.3(ARID1B): c.5153del (p.Lys1718Argfs) deletion Pathogenic rs797045281 GRCh38 Chromosome 6, 157206294: 157206294
14 ARID1B NM_020732.3(ARID1B): c.5153del (p.Lys1718Argfs) deletion Pathogenic rs797045281 GRCh37 Chromosome 6, 157527428: 157527428
15 ARID1B NM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter) single nucleotide variant Pathogenic rs797045282 GRCh37 Chromosome 6, 157527679: 157527679
16 ARID1B NM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter) single nucleotide variant Pathogenic rs797045282 GRCh38 Chromosome 6, 157206545: 157206545
17 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh38 Chromosome 6, 157207109: 157207109
18 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh37 Chromosome 6, 157528243: 157528243
19 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh38 Chromosome 19, 10984271: 10984271
20 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh37 Chromosome 19, 11094947: 11094947
21 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh37 Chromosome 19, 11095944: 11095944
22 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh38 Chromosome 19, 10985268: 10985268
23 SMARCA4 NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=) single nucleotide variant Benign/Likely benign rs547268941 GRCh37 Chromosome 19, 11098463: 11098463
24 SMARCA4 NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=) single nucleotide variant Benign/Likely benign rs547268941 GRCh38 Chromosome 19, 10987787: 10987787
25 SMARCA4 NM_001128849.1(SMARCA4): c.1419+7T> C single nucleotide variant Benign/Likely benign rs112977340 GRCh38 Chromosome 19, 10991330: 10991330
26 SMARCA4 NM_001128849.1(SMARCA4): c.1419+7T> C single nucleotide variant Benign/Likely benign rs112977340 GRCh37 Chromosome 19, 11102006: 11102006
27 SMARCA4 NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=) single nucleotide variant Conflicting interpretations of pathogenicity rs141806282 GRCh38 Chromosome 19, 10996523: 10996523
28 SMARCA4 NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=) single nucleotide variant Conflicting interpretations of pathogenicity rs141806282 GRCh37 Chromosome 19, 11107199: 11107199
29 SMARCA4 NM_001128849.1(SMARCA4): c.2001+8T> G single nucleotide variant Benign/Likely benign rs112549813 GRCh37 Chromosome 19, 11114081: 11114081
30 SMARCA4 NM_001128849.1(SMARCA4): c.2001+8T> G single nucleotide variant Benign/Likely benign rs112549813 GRCh38 Chromosome 19, 11003405: 11003405
31 SMARCA4 NM_001128849.1(SMARCA4): c.2275-3C> A single nucleotide variant Benign/Likely benign rs117611401 GRCh37 Chromosome 19, 11123622: 11123622
32 SMARCA4 NM_001128849.1(SMARCA4): c.2275-3C> A single nucleotide variant Benign/Likely benign rs117611401 GRCh38 Chromosome 19, 11012946: 11012946
33 SMARCA4 NM_001128849.1(SMARCA4): c.2757C> T (p.Pro919=) single nucleotide variant Benign/Likely benign rs113955216 GRCh38 Chromosome 19, 11021865: 11021865
34 SMARCA4 NM_001128849.1(SMARCA4): c.2757C> T (p.Pro919=) single nucleotide variant Benign/Likely benign rs113955216 GRCh37 Chromosome 19, 11132541: 11132541
35 SMARCA4 NM_001128849.1(SMARCA4): c.3045C> T (p.Gly1015=) single nucleotide variant Benign/Likely benign rs56101423 GRCh37 Chromosome 19, 11135078: 11135078
36 SMARCA4 NM_001128849.1(SMARCA4): c.3045C> T (p.Gly1015=) single nucleotide variant Benign/Likely benign rs56101423 GRCh38 Chromosome 19, 11024402: 11024402
37 SMARCA4 NM_001128849.1(SMARCA4): c.3975C> T (p.Arg1325=) single nucleotide variant Conflicting interpretations of pathogenicity rs144803359 GRCh37 Chromosome 19, 11145613: 11145613
38 SMARCA4 NM_001128849.1(SMARCA4): c.3975C> T (p.Arg1325=) single nucleotide variant Conflicting interpretations of pathogenicity rs144803359 GRCh38 Chromosome 19, 11034937: 11034937
39 SMARCA4 NM_001128849.1(SMARCA4): c.4152G> A (p.Thr1384=) single nucleotide variant Conflicting interpretations of pathogenicity rs372620534 GRCh38 Chromosome 19, 11035114: 11035114
40 SMARCA4 NM_001128849.1(SMARCA4): c.4152G> A (p.Thr1384=) single nucleotide variant Conflicting interpretations of pathogenicity rs372620534 GRCh37 Chromosome 19, 11145790: 11145790
41 SMARCA4 NM_001128849.1(SMARCA4): c.442G> A (p.Gly148Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138689221 GRCh38 Chromosome 19, 10986275: 10986275
42 SMARCA4 NM_001128849.1(SMARCA4): c.442G> A (p.Gly148Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138689221 GRCh37 Chromosome 19, 11096951: 11096951
43 SMARCA4 NM_001128849.1(SMARCA4): c.859+7T> A single nucleotide variant Benign/Likely benign rs141461778 GRCh38 Chromosome 19, 10987010: 10987010
44 SMARCA4 NM_001128849.1(SMARCA4): c.859+7T> A single nucleotide variant Benign/Likely benign rs141461778 GRCh37 Chromosome 19, 11097686: 11097686
45 SMARCA4 NM_001128849.1(SMARCA4): c.2388C> T (p.Leu796=) single nucleotide variant Benign rs28997580 GRCh38 Chromosome 19, 11013062: 11013062
46 SMARCA4 NM_001128849.1(SMARCA4): c.2388C> T (p.Leu796=) single nucleotide variant Benign rs28997580 GRCh37 Chromosome 19, 11123738: 11123738
47 SMARCA4 NM_001128849.1(SMARCA4): c.4011C> T (p.Leu1337=) single nucleotide variant Likely benign rs377720149 GRCh38 Chromosome 19, 11034973: 11034973
48 SMARCA4 NM_001128849.1(SMARCA4): c.4011C> T (p.Leu1337=) single nucleotide variant Likely benign rs377720149 GRCh37 Chromosome 19, 11145649: 11145649
49 SMARCA4 NM_001128849.1(SMARCA4): c.4368G> A (p.Pro1456=) single nucleotide variant Benign/Likely benign rs114882905 GRCh38 Chromosome 19, 11041408: 11041408
50 SMARCA4 NM_001128849.1(SMARCA4): c.4368G> A (p.Pro1456=) single nucleotide variant Benign/Likely benign rs114882905 GRCh37 Chromosome 19, 11152084: 11152084

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

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 9.65 ARID1A DPF2 SMARCA4 SMARCB1 SMARCE1
2 Golgi cisterna membrane GO:0032580 9.54 CHPF CHSY1 CHSY3
3 npBAF complex GO:0071564 9.46 ARID1A SMARCA4 SMARCB1 SMARCE1
4 SWI/SNF complex GO:0016514 9.35 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
5 SWI/SNF superfamily-type complex GO:0070603 9.32 ARID1A ARID1B
6 nBAF complex GO:0071565 9.1 ARID1A ARID1B DPF2 SMARCA4 SMARCB1 SMARCE1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.8 ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
2 nervous system development GO:0007399 9.8 ARID1A ARID1B DPF2 SMARCA4 SMARCB1 SMARCE1
3 chondroitin sulfate biosynthetic process GO:0030206 9.54 CHPF CHSY1 CHSY3
4 positive regulation by host of viral transcription GO:0043923 9.49 SMARCA4 SMARCB1
5 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.48 SMARCA4 SMARCB1
6 chromatin-mediated maintenance of transcription GO:0048096 9.46 ARID1A ARID1B
7 ATP-dependent chromatin remodeling GO:0043044 9.46 ARID1A SMARCA4 SMARCB1 SMARCE1
8 RNA polymerase I preinitiation complex assembly GO:0001188 9.43 SMARCA4 SMARCB1
9 positive regulation of glucose mediated signaling pathway GO:1902661 9.4 SMARCA4 SMARCB1
10 chromatin remodeling GO:0006338 9.35 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
11 nucleosome disassembly GO:0006337 9.02 ARID1A ARID2 SMARCA4 SMARCB1 SMARCE1

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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.83 DPF2 SMARCA4 SMARCB1 SMARCE1 SOX11
2 transcription coactivator activity GO:0003713 9.73 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1 SOX11
3 cysteine-type peptidase activity GO:0008234 9.69 CAPN12 CAPN13 CAPN15
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.65 SMARCA4 SMARCB1 SMARCE1
5 nucleosomal DNA binding GO:0031492 9.54 SMARCA4 SMARCB1 SMARCE1
6 acetylgalactosaminyltransferase activity GO:0008376 9.5 CHPF CHSY1 CHSY3
7 nuclear receptor binding GO:0016922 9.49 ARID1A SMARCE1
8 Tat protein binding GO:0030957 9.46 SMARCA4 SMARCB1
9 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.4 SMARCA4 SMARCB1
10 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.33 CHPF CHSY1 CHSY3
11 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.13 CHPF CHSY1 CHSY3
12 calcium-dependent cysteine-type endopeptidase activity GO:0004198 8.92 CAPN12 CAPN13 CAPN15 CAPNS2

Sources for Coffin-Siris Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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