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CSS1
MCID: CFF008
MIFTS: 60

Coffin-Siris Syndrome 1 (CSS1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Coffin-Siris Syndrome 1

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MalaCards integrated aliases for Coffin-Siris Syndrome 1:

Name: Coffin-Siris Syndrome 1 57 12 75 29 6 15
Coffin-Siris Syndrome 57 12 24 53 25 59 75 37 29 13 6 44 15 40 73
Fifth Digit Syndrome 57 12 24 53 25 75
Mental Retardation, Autosomal Dominant 12 57 75 13 73
Mrd12 57 12 75
Css1 57 12 75
Css 57 59 75
Dwarfism-Onychodysplasia 12 25
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 53
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 25
Mental Retardation, Autosomal Dominant 12; Mrd12 57
Mental Retardation, Autosomal Dominant, Type 12 40
Autosomal Dominant Mental Retardation 12 12
Coffin-Siris Syndrome, Type 1 ) 40
Short Stature-Onychodysplasia. 12
Short Stature-Onychodysplasia 25
Coffin-Siris Syndrome; Css 57
Coffinsiris Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
coffin-siris syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

32
coffin-siris syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance for coffin-siris syndrome appears to be complete...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Coffin-Siris Syndrome 1

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UniProtKB/Swiss-Prot : 75 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 2 and coffin-siris syndrome 3. 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 ptosis and nystagmus

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 : 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 : 53 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 : 57 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 : 76 Coffin�??Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth... more...

GeneReviews: NBK131811
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Related Diseases for Coffin-Siris Syndrome 1

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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

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 2 31.8 CRYBB1 CHSY1 ARID1A
2 coffin-siris syndrome 3 31.8 SMARCB1 CHSY1
3 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.9
4 eosinophilic granulomatosis with polyangiitis 11.9
5 brachymorphism-onychodysplasia-dysphalangism syndrome 11.7
6 churg-strauss syndrome 11.5
7 allergic angiitis 11.5
8 autosomal dominant deafness-onychodystrophy syndrome 11.4
9 autoimmune lymphoproliferative syndrome 11.2
10 coffin-siris syndrome 4 11.0
11 coffin-siris syndrome 5 11.0
12 coffin-siris syndrome 6 11.0
13 coffin-siris syndrome 7 11.0
14 hyperinsulinism 10.4
15 central nervous system sarcoma 10.3 SMARCB1 SMARCA4
16 diaphragmatic hernia, congenital 10.3
17 medulloblastoma 10.3
18 autism 10.3
19 craniosynostosis with fibular aplasia 10.3
20 biotinidase deficiency 10.3
21 neuroblastoma 10.3
22 coffin-lowry syndrome 10.3
23 choanal atresia, posterior 10.3
24 alacrima, achalasia, and mental retardation syndrome 10.3
25 small cell carcinoma 10.3
26 microphthalmia 10.3
27 heart disease 10.3
28 epilepsy 10.3
29 astrocytoma 10.3
30 grade iii astrocytoma 10.3
31 ovarian small cell carcinoma 10.3
32 pituitary hypoplasia 10.3
33 hypoglycemia 10.3
34 growth hormone deficiency 10.3
35 hypotrichosis 10.2
36 alpha thalassemia-x-linked intellectual disability syndrome 10.2 SMARCA4 SMARCA2
37 nicolaides-baraitser syndrome 10.2 SMARCA2 ARID1B
38 enamel erosion 10.2 SMARCA4 SMARCA2
39 tooth erosion 10.2 SMARCA4 SMARCA2
40 root caries 10.2 SMARCA4 SMARCA2
41 nodular medulloblastoma 10.2 SMARCB1 GLI2
42 schimke immunoosseous dysplasia 10.1 SMARCA4 SMARCA2
43 rhabdoid cancer 10.1 SMARCB1 SMARCA4
44 tumor predisposition syndrome 10.1 SMARCB1 SMARCA4
45 hypertrichosis 10.0 ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
46 borjeson-forssman-lehmann syndrome 9.9 ARID1B BANF1 SMARCA2 SMARCA4 SMARCB1 SMARCE1
47 glioma susceptibility 1 9.9
48 myositis 9.9
49 asthma 9.9
50 autism spectrum disorder 9.9

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



Diseases related to Coffin-Siris Syndrome 1
Sources

Symptoms & Phenotypes for Coffin-Siris Syndrome 1

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Coffin-Siris Syndrome 1:

59 32 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
9 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
13 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
14 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
15 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
16 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
17 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
18 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
19 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
20 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
21 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
22 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
23 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
24 coxa valga 59 32 occasional (7.5%) Occasional (29-5%) HP:0002673
25 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
26 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
27 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
28 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
29 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
30 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
31 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
32 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
33 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
34 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
35 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
36 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
37 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
38 lacrimation abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000632
39 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
40 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
41 long eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000527
42 abnormality of the clavicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000889
43 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
44 partial agenesis of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001338
45 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
46 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
47 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
48 cutis marmorata 59 32 occasional (7.5%) Occasional (29-5%) HP:0000965
49 slow-growing hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002217
50 abnormality of the intervertebral disk 59 32 occasional (7.5%) Occasional (29-5%) HP:0005108

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

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.98 DPF2 SMARCE1 ARID1A BANF1 SMARCA4 SMARCB1
2 Increased Nanog expression GR00371-A-2 9.98 ARID2 DPF2 SMARCE1 SOX11
3 Increased Nanog expression GR00371-A-3 9.98 ARID2 DPF2 ARID1A
4 Increased Nanog expression GR00371-A-4 9.98 SOX11
5 Increased Nanog expression GR00371-A-5 9.98 ARID1A BANF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 CRYBB1 SMARCB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.85 DPF2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 DPF2 SMARCB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.85 SRP9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.85 CRYBB1 DPF2 SMARCB1 SMARCE1 SRP9
11 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.85 CRYBB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.85 SRP9
13 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.85 CRYBB1 SRP9
14 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.85 CRYBB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.85 SRP9
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.85 CRYBB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.85 DPF2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.85 SMARCB1 SMARCE1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.85 SMARCE1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.85 CRYBB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.85 DPF2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.85 SMARCB1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.85 CRYBB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.85 SMARCE1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.85 CRYBB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.85 SMARCE1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.85 SRP9
28 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.85 CRYBB1 SMARCB1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.85 SMARCB1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.85 SMARCE1

MGI Mouse Phenotypes related to Coffin-Siris Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 ARID1A CHSY1 DPF2 GLI2 SMARCA4 SOX11
2 limbs/digits/tail MP:0005371 9.63 CHPF CHSY1 DPF2 GLI2 SMARCA4 SOX11
3 muscle MP:0005369 9.5 ARID1A ARID1B ARID2 GLI2 SMARCA2 SMARCA4
4 normal MP:0002873 9.23 ARID1A CHPF DPF2 EPHA4 GLI2 GRIA1
Sources

Drugs & Therapeutics for Coffin-Siris Syndrome 1

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

Cochrane evidence based reviews: coffin-siris syndrome

Sources

Genetic Tests for Coffin-Siris Syndrome 1

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Genetic tests related to Coffin-Siris Syndrome 1:

# Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 1 29 ARID1B
2 Coffin-Siris Syndrome 29
Sources

Anatomical Context for Coffin-Siris Syndrome 1

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

41
Heart, Bone, Kidney, Skin, Cerebellum, Uterus, Pituitary
Sources

Publications for Coffin-Siris Syndrome 1

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Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 78)
# Title Authors Year
1
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
2
Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report. ( 30499906 )
2018
3
Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. ( 28787104 )
2018
4
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. ( 29429572 )
2018
5
Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome. ( 29504208 )
2018
6
A 69-year-old woman with Coffin-Siris syndrome. ( 30055038 )
2018
7
First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. ( 30276971 )
2018
8
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ( 30349098 )
2018
9
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. ( 28124119 )
2017
10
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. ( 28608987 )
2017
11
Successful difficult airway management of a child with Coffin-siris syndrome. ( 28781848 )
2017
12
Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. ( 27672547 )
2016
13
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. ( 27264538 )
2016
14
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. ( 27264197 )
2016
15
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. ( 26543203 )
2015
16
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. ( 25099957 )
2014
17
De novo SOX11 mutations cause Coffin-Siris syndrome. ( 24886874 )
2014
18
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
19
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. ( 24569609 )
2014
20
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. ( 24700502 )
2014
21
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. ( 25168959 )
2014
22
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. ( 25169447 )
2014
23
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ( 25169651 )
2014
24
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. ( 25298701 )
2014
25
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. ( 23929686 )
2013
26
Coffin-Siris syndrome is a SWI/SNF complex disorder. ( 23815551 )
2013
27
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
28
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. ( 22711679 )
2012
29
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
30
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. ( 22426309 )
2012
31
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. ( 21452752 )
2011
32
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. ( 20624500 )
2010
33
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. ( 21059198 )
2010
34
Is this the Coffin-Siris syndrome or the BOD syndrome? ( 19215055 )
2009
35
Neuroblastoma in a patient with Coffin-Siris syndrome. ( 19842870 )
2009
36
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )
2008
37
Upper gastrointestinal malformations in Coffin-Siris syndrome. ( 17523151 )
2007
38
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. ( 16830329 )
2006
39
Autosomal dominant syndrome resembling Coffin-Siris syndrome. ( 16691594 )
2006
40
Anesthetic management in a child with Coffin-Siris syndrome. ( 15283836 )
2004
41
Premature thelarche in Coffin-Siris syndrome. ( 12910500 )
2003
42
Dandy-Walker variant in Coffin-Siris syndrome. ( 11298377 )
2001
43
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. ( 11170086 )
2001
44
Difficult airway in a patient with Coffin-Siris syndrome. ( 11159267 )
2001
45
Candidate region for Coffin-Siris syndrome at 7q32--&amp;gt;34. ( 10925390 )
2000
46
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. ( 10649791 )
2000
47
Diaphragmatic hernia in the Coffin-Siris syndrome. ( 9555587 )
1998
48
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. ( 9286450 )
1997
49
Variant of Coffin-Siris syndrome or previously undescribed syndrome? ( 8870924 )
1996
50
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. ( 8942018 )
1996
Sources

Variations for Coffin-Siris Syndrome 1

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ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

6 (show top 50) (show all 321)
# 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.3919C> T (p.Gln1307Ter) single nucleotide variant Pathogenic rs387907140 GRCh38 Chromosome 6, 157196221: 157196221
3 ARID1B NM_020732.3(ARID1B): c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs) deletion Pathogenic rs876657379 GRCh37 Chromosome 6, 157528738: 157528748
4 ARID1B NM_020732.3(ARID1B): c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs) deletion Pathogenic rs876657379 GRCh38 Chromosome 6, 157207604: 157207614
5 ARID1B NM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter) single nucleotide variant Pathogenic rs387907141 GRCh37 Chromosome 6, 157502271: 157502271
6 ARID1B NM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter) single nucleotide variant Pathogenic rs387907141 GRCh38 Chromosome 6, 157181137: 157181137
7 ARID1B NM_020732.3(ARID1B): c.3323_3324delAA (p.Lys1108Argfs) deletion Pathogenic rs876657380 GRCh38 Chromosome 6, 157181156: 157181157
8 ARID1B NM_020732.3(ARID1B): c.3323_3324delAA (p.Lys1108Argfs) deletion Pathogenic rs876657380 GRCh37 Chromosome 6, 157502290: 157502291
9 ARID1B NM_020732.3(ARID1B): c.4038T> A (p.Tyr1346Ter) single nucleotide variant Pathogenic rs748363079 GRCh37 Chromosome 6, 157519969: 157519969
10 ARID1B NM_020732.3(ARID1B): c.4038T> A (p.Tyr1346Ter) single nucleotide variant Pathogenic rs748363079 GRCh38 Chromosome 6, 157198835: 157198835
11 ARID1B NM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter) single nucleotide variant Pathogenic rs387907142 GRCh37 Chromosome 6, 157222636: 157222636
12 ARID1B NM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter) single nucleotide variant Pathogenic rs387907142 GRCh38 Chromosome 6, 156901502: 156901502
13 ARID1B NM_020732.3(ARID1B): c.5632delG (p.Asp1878Metfs) deletion Pathogenic rs876657381 GRCh38 Chromosome 6, 157206773: 157206773
14 ARID1B NM_020732.3(ARID1B): c.5632delG (p.Asp1878Metfs) deletion Pathogenic rs876657381 GRCh37 Chromosome 6, 157527907: 157527907
15 ARID1B NM_020732.3(ARID1B): c.5329A> T (p.Lys1777Ter) single nucleotide variant Pathogenic rs387907143 GRCh37 Chromosome 6, 157527604: 157527604
16 ARID1B NM_020732.3(ARID1B): c.5329A> T (p.Lys1777Ter) single nucleotide variant Pathogenic rs387907143 GRCh38 Chromosome 6, 157206470: 157206470
17 ARID1B NM_020732.3(ARID1B): c.3223C> T (p.Arg1075Ter) single nucleotide variant Pathogenic rs387907144 GRCh37 Chromosome 6, 157502190: 157502190
18 ARID1B NM_020732.3(ARID1B): c.3223C> T (p.Arg1075Ter) single nucleotide variant Pathogenic rs387907144 GRCh38 Chromosome 6, 157181056: 157181056
19 ARID1B NM_020732.3(ARID1B): c.4619_4628delACCAGACGCC (p.Gln1541Argfs) deletion Pathogenic rs876657382 GRCh38 Chromosome 6, 157201213: 157201222
20 ARID1B NM_020732.3(ARID1B): c.4619_4628delACCAGACGCC (p.Gln1541Argfs) deletion Pathogenic rs876657382 GRCh37 Chromosome 6, 157522347: 157522356
21 SMARCA4 NM_001128849.1(SMARCA4): c.1114T> C (p.Tyr372His) single nucleotide variant Benign/Likely benign rs140192268 GRCh37 Chromosome 19, 11098596: 11098596
22 SMARCA4 NM_001128849.1(SMARCA4): c.1114T> C (p.Tyr372His) single nucleotide variant Benign/Likely benign rs140192268 GRCh38 Chromosome 19, 10987920: 10987920
23 SMARCA4 NM_001128849.1(SMARCA4): c.1413G> A (p.Lys471=) single nucleotide variant Benign rs17001073 GRCh37 Chromosome 19, 11101993: 11101993
24 SMARCA4 NM_001128849.1(SMARCA4): c.1413G> A (p.Lys471=) single nucleotide variant Benign rs17001073 GRCh38 Chromosome 19, 10991317: 10991317
25 SMARCA4 NM_001128849.1(SMARCA4): c.1419+8C> T single nucleotide variant Benign rs115492175 GRCh37 Chromosome 19, 11102007: 11102007
26 SMARCA4 NM_001128849.1(SMARCA4): c.1419+8C> T single nucleotide variant Benign rs115492175 GRCh38 Chromosome 19, 10991331: 10991331
27 SMARCA4 NM_001128849.1(SMARCA4): c.1509A> G (p.Ala503=) single nucleotide variant Benign rs17001075 GRCh37 Chromosome 19, 11105593: 11105593
28 SMARCA4 NM_001128849.1(SMARCA4): c.1509A> G (p.Ala503=) single nucleotide variant Benign rs17001075 GRCh38 Chromosome 19, 10994917: 10994917
29 SMARCA4 NM_001128849.1(SMARCA4): c.1524T> C (p.His508=) single nucleotide variant Benign rs7935 GRCh37 Chromosome 19, 11105608: 11105608
30 SMARCA4 NM_001128849.1(SMARCA4): c.1524T> C (p.His508=) single nucleotide variant Benign rs7935 GRCh38 Chromosome 19, 10994932: 10994932
31 SMARCA4 NM_001128849.1(SMARCA4): c.4053C> T (p.Asp1351=) single nucleotide variant Benign rs28997582 GRCh37 Chromosome 19, 11145691: 11145691
32 SMARCA4 NM_001128849.1(SMARCA4): c.4053C> T (p.Asp1351=) single nucleotide variant Benign rs28997582 GRCh38 Chromosome 19, 11035015: 11035015
33 SMARCA4 NM_001128849.1(SMARCA4): c.4590C> T (p.Tyr1530=) single nucleotide variant Benign/Likely benign rs139505007 GRCh37 Chromosome 19, 11169000: 11169000
34 SMARCA4 NM_001128849.1(SMARCA4): c.4590C> T (p.Tyr1530=) single nucleotide variant Benign/Likely benign rs139505007 GRCh38 Chromosome 19, 11058324: 11058324
35 SMARCA4 NM_001128849.1(SMARCA4): c.4680C> T (p.Asp1560=) single nucleotide variant Benign rs9105 GRCh37 Chromosome 19, 11169514: 11169514
36 SMARCA4 NM_001128849.1(SMARCA4): c.4680C> T (p.Asp1560=) single nucleotide variant Benign rs9105 GRCh38 Chromosome 19, 11058838: 11058838
37 SMARCA4 NM_001128849.1(SMARCA4): c.4983T> C (p.Asp1661=) single nucleotide variant Benign rs7275 GRCh37 Chromosome 19, 11170839: 11170839
38 SMARCA4 NM_001128849.1(SMARCA4): c.4983T> C (p.Asp1661=) single nucleotide variant Benign rs7275 GRCh38 Chromosome 19, 11060163: 11060163
39 SMARCA4 NM_001128849.1(SMARCA4): c.915G> A (p.Pro305=) single nucleotide variant Benign rs149573400 GRCh37 Chromosome 19, 11098397: 11098397
40 SMARCA4 NM_001128849.1(SMARCA4): c.915G> A (p.Pro305=) single nucleotide variant Benign rs149573400 GRCh38 Chromosome 19, 10987721: 10987721
41 SMARCA4 NM_001128849.1(SMARCA4): c.930C> A (p.Arg310=) single nucleotide variant Benign/Likely benign rs146141457 GRCh37 Chromosome 19, 11098412: 11098412
42 SMARCA4 NM_001128849.1(SMARCA4): c.930C> A (p.Arg310=) single nucleotide variant Benign/Likely benign rs146141457 GRCh38 Chromosome 19, 10987736: 10987736
43 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh37 Chromosome 22, 24167513: 24167513
44 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh38 Chromosome 22, 23825326: 23825326
45 SMARCA4 NM_001128849.1(SMARCA4): c.589C> T (p.Pro197Ser) single nucleotide variant Benign/Likely benign rs200664441 GRCh38 Chromosome 19, 10986422: 10986422
46 SMARCA4 NM_001128849.1(SMARCA4): c.589C> T (p.Pro197Ser) single nucleotide variant Benign/Likely benign rs200664441 GRCh37 Chromosome 19, 11097098: 11097098
47 ARID1B NM_020732.3(ARID1B): c.2692C> T (p.Arg898Ter) single nucleotide variant Pathogenic rs794727977 GRCh37 Chromosome 6, 157469898: 157469898
48 ARID1B NM_020732.3(ARID1B): c.2692C> T (p.Arg898Ter) single nucleotide variant Pathogenic rs794727977 GRCh38 Chromosome 6, 157148764: 157148764
49 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh38 Chromosome 6, 157084773: 157084773
50 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh37 Chromosome 6, 157405907: 157405907

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
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Expression for Coffin-Siris Syndrome 1

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

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

# Super pathways Score Top Affiliating Genes
1
Chromatin organization 66
Show member pathways
 12.65 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
2
Gastric cancer 37
Show member pathways
 12.17 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
3
Chromatin Regulation / Acetylation 4
12.13 ARID1A ARID2 SMARCA2 SMARCA4 SMARCB1
4
AMPK Enzyme Complex Pathway 64
Show member pathways
 11.79 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
5
BRCA1 Pathway 64
Show member pathways
 11.5 SMARCA2 SMARCA4 SMARCB1
6
Pathways Affected in Adenoid Cystic Carcinoma 1
11.36 ARID1A SMARCA2 SMARCE1
7
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 10.95 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
Sources

GO Terms for Coffin-Siris Syndrome 1

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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 DPF2 SMARCA2 SMARCA4 SMARCB1 SMARCE1
2 Golgi cisterna membrane GO:0032580 9.58 CHPF CHSY1 CHSY3
3 npBAF complex GO:0071564 9.55 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
4 SWI/SNF complex GO:0016514 9.43 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
5 SWI/SNF superfamily-type complex GO:0070603 9.32 ARID1A ARID1B
6 nBAF complex GO:0071565 9.17 ARID1A ARID1B DPF2 SMARCA2 SMARCA4 SMARCB1
7 nucleoplasm GO:0005654 10.07 ARID1A ARID1B ARID2 BANF1 DPF2 GLI2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 ARID1A GLI2 SMARCA2 SMARCA4 SOX11
2 nervous system development GO:0007399 9.81 ARID1A ARID1B DPF2 EPHA4 SMARCA2 SMARCA4
3 chromatin organization GO:0006325 9.8 ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
4 chromatin remodeling GO:0006338 9.73 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
5 proximal/distal pattern formation GO:0009954 9.55 CHSY1 GLI2
6 chondroitin sulfate biosynthetic process GO:0030206 9.54 CHPF CHSY1 CHSY3
7 positive regulation by host of viral transcription GO:0043923 9.52 SMARCA4 SMARCB1
8 DNA integration GO:0015074 9.51 BANF1 SMARCB1
9 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.48 SMARCA4 SMARCB1
10 chromatin-mediated maintenance of transcription GO:0048096 9.46 ARID1A ARID1B
11 RNA polymerase I preinitiation complex assembly GO:0001188 9.43 SMARCA4 SMARCB1
12 positive regulation of glucose mediated signaling pathway GO:1902661 9.4 SMARCA4 SMARCB1
13 ATP-dependent chromatin remodeling GO:0043044 9.35 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
14 nucleosome disassembly GO:0006337 9.02 ARID1A ARID2 SMARCA4 SMARCB1 SMARCE1
15 regulation of transcription by RNA polymerase II GO:0006357 10.04 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
16 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 DPF2 GLI2 SMARCA2 SMARCA4 SMARCB1 SOX11

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 DPF2 GLI2 SMARCA4 SMARCB1 SMARCE1 SOX11
2 histone binding GO:0042393 9.71 DPF2 SMARCA2 SMARCA4
3 protein N-terminus binding GO:0047485 9.69 BANF1 SMARCA4 SMARCE1
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.67 SMARCA4 SMARCB1 SMARCE1
5 nuclear receptor binding GO:0016922 9.55 ARID1A SMARCE1
6 nucleosomal DNA binding GO:0031492 9.54 SMARCA4 SMARCB1 SMARCE1
7 Tat protein binding GO:0030957 9.48 SMARCA4 SMARCB1
8 hydrolase activity, acting on acid anhydrides GO:0016817 9.43 SMARCA2 SMARCA4
9 acetylgalactosaminyltransferase activity GO:0008376 9.43 CHPF CHSY1 CHSY3
10 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.4 SMARCA4 SMARCB1
11 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.33 CHPF CHSY1 CHSY3
12 transcription coactivator activity GO:0003713 9.17 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
13 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.13 CHPF CHSY1 CHSY3
14 DNA binding GO:0003677 10.11 ARID1A ARID1B ARID2 BANF1 GLI2 SMARCA2
15 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.07 ARID1A ARID1B ARID2 DPF2 GLI2 SMARCE1
Sources

Sources for Coffin-Siris Syndrome 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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