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MCID: CFF008
MIFTS: 58

Coffin-Siris Syndrome 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Mental 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
Coffin-Siris Syndrome 57 12 24 53 25 59 75 37 29 13 6 44 15 40 73
Mental Retardation, Autosomal Dominant 12 57 75 29 13 6 73
Fifth Digit Syndrome 57 12 24 53 25 75
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

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 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis and eosinophilic granulomatosis with polyangiitis. 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include heart, bone and kidney, and related phenotypes are ptosis and nystagmus

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)

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.

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.

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.

Wikipedia : 76 Coffin–Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth... more...

GeneReviews: NBK131811
Sources

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

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.7
2 eosinophilic granulomatosis with polyangiitis 11.5
3 churg-strauss syndrome 11.3
4 allergic angiitis 11.3
5 autoimmune lymphoproliferative syndrome 11.1
6 coffin-siris syndrome 2 10.9
7 coffin-siris syndrome 3 10.9
8 coffin-siris syndrome 4 10.9
9 coffin-siris syndrome 5 10.9
10 coffin-siris syndrome 6 10.9
11 central nervous system sarcoma 10.7 SMARCA4 SMARCB1
12 nicolaides-baraitser syndrome 10.6 ARID1B SMARCA2
13 alpha thalassemia-x-linked intellectual disability syndrome 10.5 SMARCA2 SMARCA4
14 enamel erosion 10.5 SMARCA2 SMARCA4
15 tooth erosion 10.4 SMARCA2 SMARCA4
16 root caries 10.4 SMARCA2 SMARCA4
17 schimke immunoosseous dysplasia 10.3 SMARCA2 SMARCA4
18 tumor predisposition syndrome 10.3 SMARCA4 SMARCB1
19 neurilemmomatosis 10.2 SMARCB1 SMARCC2 SMARCE1
20 hypotrichosis 10.1
21 autosomal recessive nonsyndromic deafness 86 10.0 ENSG00000260272 TBC1D24
22 deafness, autosomal dominant 65 10.0 ENSG00000260272 TBC1D24
23 hypertrichosis 10.0 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
24 gingival disease 9.9 SMARCA2 SMARCA4
25 myositis 9.8
26 silver-russell syndrome 9.8
27 asthma 9.8
28 sialadenitis 9.8
29 dermatitis 9.8
30 pneumonia 9.8
31 eosinophilic pneumonia 9.8
32 chronic eosinophilic pneumonia 9.8
33 chronic actinic dermatitis 9.8
34 borjeson-forssman-lehmann syndrome 8.9 ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4
35 trehalase deficiency 8.2 ARID1B ARID2 PHF6 SETD5 SMARCA2 SMARCA4

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 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 10.05 ARID1A BANF1 SETD5 SMARCA4 SMARCB1 SMARCE1
2 Increased Nanog expression GR00371-A-2 10.05 SOX11 SETD5 SMARCE1 ARID2
3 Increased Nanog expression GR00371-A-3 10.05 ARID1A SETD5 ARID2
4 Increased Nanog expression GR00371-A-4 10.05 SOX11 SETD5
5 Increased Nanog expression GR00371-A-5 10.05 ARID1A BANF1 SETD5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 SMARCB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.74 SMARCB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.74 ARID1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.74 SMARCE1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.74 SMARCB1 SMARCE1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.74 FAM3C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.74 FAM3C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.74 ARID1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.74 ARID1A FAM3C SMARCB1 SMARCE1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.74 SMARCE1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.74 ARID1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.74 ARID1A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.74 SMARCB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.74 SMARCE1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.74 SMARCE1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 ARID1A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.74 FAM3C
23 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.74 ARID1A
24 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.74 SMARCB1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.74 SMARCB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.74 FAM3C
27 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.74 SMARCE1

MGI Mouse Phenotypes related to Coffin-Siris Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.28 ADAMTS6 ARID1A ARID1B ARID2 SETD5 SMARCA4
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 Mental Retardation, Autosomal Dominant 12 29 ARID1B
3 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, Uterus, Cerebellum, Pituitary
Sources

Publications for Coffin-Siris Syndrome 1

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Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 70)
# 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
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. ( 28124119 )
2017
3
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. ( 28608987 )
2017
4
Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. ( 27672547 )
2016
5
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. ( 27264538 )
2016
6
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. ( 27264197 )
2016
7
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. ( 26543203 )
2015
8
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. ( 25099957 )
2014
9
De novo SOX11 mutations cause Coffin-Siris syndrome. ( 24886874 )
2014
10
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
11
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. ( 25081545 )
2014
12
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. ( 24569609 )
2014
13
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. ( 24700502 )
2014
14
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. ( 25168959 )
2014
15
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. ( 25169447 )
2014
16
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. ( 25298701 )
2014
17
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ( 25169651 )
2014
18
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. ( 23929686 )
2013
19
Coffin-Siris syndrome is a SWI/SNF complex disorder. ( 23815551 )
2013
20
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
21
Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. ( 22426308 )
2012
22
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. ( 22711679 )
2012
23
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
24
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. ( 22426309 )
2012
25
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. ( 21452752 )
2011
26
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. ( 20624500 )
2010
27
Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. ( 21059198 )
2010
28
Is this the Coffin-Siris syndrome or the BOD syndrome? ( 19215055 )
2009
29
Neuroblastoma in a patient with Coffin-Siris syndrome. ( 19842870 )
2009
30
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )
2008
31
Upper gastrointestinal malformations in Coffin-Siris syndrome. ( 17523151 )
2007
32
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. ( 16830329 )
2006
33
Autosomal dominant syndrome resembling Coffin-Siris syndrome. ( 16691594 )
2006
34
Anesthetic management in a child with Coffin-Siris syndrome. ( 15283836 )
2004
35
Premature thelarche in Coffin-Siris syndrome. ( 12910500 )
2003
36
Dandy-Walker variant in Coffin-Siris syndrome. ( 11298377 )
2001
37
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. ( 11170086 )
2001
38
Difficult airway in a patient with Coffin-Siris syndrome. ( 11159267 )
2001
39
Candidate region for Coffin-Siris syndrome at 7q32--&amp;gt;34. ( 10925390 )
2000
40
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. ( 10649791 )
2000
41
Diaphragmatic hernia in the Coffin-Siris syndrome. ( 9555587 )
1998
42
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. ( 9286450 )
1997
43
Variant of Coffin-Siris syndrome or previously undescribed syndrome? ( 8870924 )
1996
44
Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis. ( 8942018 )
1996
45
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. ( 8591667 )
1995
46
Hypoglycemia in Coffin-Siris syndrome. ( 8849011 )
1995
47
Coffin-Siris Syndrome ( 23556151 )
1993
48
Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. ( 1493645 )
1992
49
Coffin-Siris syndrome. ( 1865473 )
1991
50
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. ( 1724113 )
1991
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 270)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARID1B NM_020732.3(ARID1B): c.3323_3324delAA (p.Lys1108Argfs) deletion Pathogenic rs876657380 GRCh38 Chromosome 6, 157181156: 157181157
2 ARID1B NM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter) single nucleotide variant Pathogenic rs387907140 GRCh37 Chromosome 6, 157517355: 157517355
3 ARID1B NM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter) single nucleotide variant Pathogenic rs387907140 GRCh38 Chromosome 6, 157196221: 157196221
4 ARID1B NM_020732.3(ARID1B): c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs) deletion Pathogenic rs876657379 GRCh37 Chromosome 6, 157528738: 157528748
5 ARID1B NM_020732.3(ARID1B): c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs) deletion Pathogenic rs876657379 GRCh38 Chromosome 6, 157207604: 157207614
6 ARID1B NM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter) single nucleotide variant Pathogenic rs387907141 GRCh37 Chromosome 6, 157502271: 157502271
7 ARID1B NM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter) single nucleotide variant Pathogenic rs387907141 GRCh38 Chromosome 6, 157181137: 157181137
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 ARID1B NM_020732.3(ARID1B): c.2692C> T (p.Arg898Ter) single nucleotide variant Pathogenic rs794727977 GRCh37 Chromosome 6, 157469898: 157469898
22 ARID1B NM_020732.3(ARID1B): c.2692C> T (p.Arg898Ter) single nucleotide variant Pathogenic rs794727977 GRCh38 Chromosome 6, 157148764: 157148764
23 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh38 Chromosome 6, 157084773: 157084773
24 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh37 Chromosome 6, 157405907: 157405907
25 ARID1B NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs797045272 GRCh37 Chromosome 6, 157406006: 157406006
26 ARID1B NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs797045272 GRCh38 Chromosome 6, 157084872: 157084872
27 ARID1B NM_020732.3(ARID1B): c.4110G> A (p.Pro1370=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045277 GRCh37 Chromosome 6, 157520041: 157520041
28 ARID1B NM_020732.3(ARID1B): c.4110G> A (p.Pro1370=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045277 GRCh38 Chromosome 6, 157198907: 157198907
29 ARID1B NM_020732.3(ARID1B): c.4336C> T (p.Gln1446Ter) single nucleotide variant Likely pathogenic rs797045278 GRCh37 Chromosome 6, 157522064: 157522064
30 ARID1B NM_020732.3(ARID1B): c.4336C> T (p.Gln1446Ter) single nucleotide variant Likely pathogenic rs797045278 GRCh38 Chromosome 6, 157200930: 157200930
31 ARID1B NM_020732.3(ARID1B): c.5056dupT (p.Tyr1686Leufs) duplication Pathogenic rs797045279 GRCh37 Chromosome 6, 157527331: 157527331
32 ARID1B NM_020732.3(ARID1B): c.5056dupT (p.Tyr1686Leufs) duplication Pathogenic rs797045279 GRCh38 Chromosome 6, 157206197: 157206197
33 ARID1B NM_020732.3(ARID1B): c.5151delG (p.Lys1718Argfs) deletion Pathogenic rs797045280 GRCh38 Chromosome 6, 157206292: 157206292
34 ARID1B NM_020732.3(ARID1B): c.5151delG (p.Lys1718Argfs) deletion Pathogenic rs797045280 GRCh37 Chromosome 6, 157527426: 157527426
35 ARID1B NM_020732.3(ARID1B): c.5153delA (p.Lys1718Argfs) deletion Pathogenic rs797045281 GRCh38 Chromosome 6, 157206294: 157206294
36 ARID1B NM_020732.3(ARID1B): c.5153delA (p.Lys1718Argfs) deletion Pathogenic rs797045281 GRCh37 Chromosome 6, 157527428: 157527428
37 ARID1B NM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter) single nucleotide variant Pathogenic rs797045282 GRCh37 Chromosome 6, 157527679: 157527679
38 ARID1B NM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter) single nucleotide variant Pathogenic rs797045282 GRCh38 Chromosome 6, 157206545: 157206545
39 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh38 Chromosome 6, 157207109: 157207109
40 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh37 Chromosome 6, 157528243: 157528243
41 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh38 Chromosome 19, 10984271: 10984271
42 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh37 Chromosome 19, 11094947: 11094947
43 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh37 Chromosome 19, 11095944: 11095944
44 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh38 Chromosome 19, 10985268: 10985268
45 SMARCA4 NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=) single nucleotide variant Benign/Likely benign rs547268941 GRCh37 Chromosome 19, 11098463: 11098463
46 SMARCA4 NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=) single nucleotide variant Benign/Likely benign rs547268941 GRCh38 Chromosome 19, 10987787: 10987787
47 SMARCA4 NM_001128849.1(SMARCA4): c.1419+7T> C single nucleotide variant Benign/Likely benign rs112977340 GRCh38 Chromosome 19, 10991330: 10991330
48 SMARCA4 NM_001128849.1(SMARCA4): c.1419+7T> C single nucleotide variant Benign/Likely benign rs112977340 GRCh37 Chromosome 19, 11102006: 11102006
49 SMARCA4 NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=) single nucleotide variant Conflicting interpretations of pathogenicity rs141806282 GRCh38 Chromosome 19, 10996523: 10996523
50 SMARCA4 NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=) single nucleotide variant Conflicting interpretations of pathogenicity rs141806282 GRCh37 Chromosome 19, 11107199: 11107199

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
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 66
Show member pathways
 13.48 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 66
Show member pathways
 13.23 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
3
Chromatin organization 66
Show member pathways
 12.7 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
4
Gastric cancer 37
Show member pathways
 12.22 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
5
Chromatin Regulation / Acetylation 4
12.21 ARID1A ARID2 SMARCA2 SMARCA4 SMARCB1 SMARCC2
6
AMPK Enzyme Complex Pathway 64
Show member pathways
 11.87 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
7
BRCA1 Pathway 64
Show member pathways
 11.59 SMARCA2 SMARCA4 SMARCB1 SMARCC2
8
Pathways Affected in Adenoid Cystic Carcinoma 1
11.4 ARID1A SMARCA2 SMARCE1
9
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.01 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
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 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
2 npBAF complex GO:0071564 9.63 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
3 SWI/SNF complex GO:0016514 9.5 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
4 SWI/SNF superfamily-type complex GO:0070603 9.37 ARID1A ARID1B
5 nBAF complex GO:0071565 9.17 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
6 nucleoplasm GO:0005654 10.06 ARID1A ARID1B ARID2 BANF1 PHF6 SETD5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 ARID1A PHF6 SMARCA2 SMARCA4 SOX11
2 positive regulation of transcription, DNA-templated GO:0045893 9.92 ARID1A SMARCA2 SMARCA4 SMARCC2 SOX11
3 nervous system development GO:0007399 9.92 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
4 chromatin organization GO:0006325 9.86 ARID1A ARID1B ARID2 SETD5 SMARCA4 SMARCB1
5 chromatin remodeling GO:0006338 9.7 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
6 positive regulation by host of viral transcription GO:0043923 9.54 SMARCA4 SMARCB1
7 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.51 SMARCA4 SMARCB1
8 RNA polymerase I transcriptional preinitiation complex assembly GO:0001188 9.49 SMARCA4 SMARCB1
9 chromatin-mediated maintenance of transcription GO:0048096 9.48 ARID1A ARID1B
10 positive regulation of glucose mediated signaling pathway GO:1902661 9.46 SMARCA4 SMARCB1
11 ATP-dependent chromatin remodeling GO:0043044 9.43 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
12 nucleosome disassembly GO:0006337 9.1 ARID1A ARID2 SMARCA4 SMARCB1 SMARCC2 SMARCE1
13 regulation of transcription, DNA-templated GO:0006355 10.11 ARID1A ARID1B ARID2 PHF6 SETD5 SMARCA2
14 transcription, DNA-templated GO:0006351 10.1 ARID1A ARID1B ARID2 PHF6 SETD5 SMARCA2
15 regulation of transcription by RNA polymerase II GO:0006357 10.03 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.96 ARID1A ARID1B ARID2 BANF1 PHF6 SMARCA2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 SMARCA4 SMARCB1 SMARCC2 SMARCE1
3 histone binding GO:0042393 9.65 PHF6 SMARCA2 SMARCA4
4 protein N-terminus binding GO:0047485 9.61 BANF1 SMARCA4 SMARCE1
5 ligand-dependent nuclear receptor binding GO:0016922 9.46 ARID1A SMARCE1
6 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.46 SMARCA4 SMARCB1 SMARCC2 SMARCE1
7 Tat protein binding GO:0030957 9.4 SMARCA4 SMARCB1
8 hydrolase activity, acting on acid anhydrides GO:0016817 9.37 SMARCA2 SMARCA4
9 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.32 SMARCA4 SMARCB1
10 nucleosomal DNA binding GO:0031492 9.26 SMARCA4 SMARCB1 SMARCC2 SMARCE1
11 transcription coactivator activity GO:0003713 9.17 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCC2
Sources

Sources for Coffin-Siris Syndrome 1

About this section
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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