CSS1
MCID: CFF008
MIFTS: 62

Coffin-Siris Syndrome 1 (CSS1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Coffin-Siris Syndrome 1

MalaCards integrated aliases for Coffin-Siris Syndrome 1:

Name: Coffin-Siris Syndrome 1 56 12 73 29 6 15
Coffin-Siris Syndrome 56 12 74 24 52 25 58 73 36 29 13 6 43 15 39 71
Fifth Digit Syndrome 56 12 24 52 25 73
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 56 52 73
Mental Retardation, Autosomal Dominant 12 56 73 71
Mrd12 56 12 73
Css1 56 12 73
Css 56 58 73
Dwarfism-Onychodysplasia 12 25
Hhid 56 73
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features; Hhid 56
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 52
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 25
Mental Retardation, Autosomal Dominant 12; Mrd12 56
Mental Retardation, Autosomal Dominant, Type 12 39
Autosomal Dominant Mental Retardation 12 12
Short Stature-Onychodysplasia. 12
Short Stature-Onychodysplasia 25
Coffin-Siris Syndrome, Type 1 39
Coffin-Siris Syndrome; Css 56

Characteristics:

Orphanet epidemiological data:

58
coffin-siris syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

31

GeneReviews:

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

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Coffin-Siris Syndrome 1

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. Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most affected individuals have facial features described as coarse. These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. There is a range of facial features seen in people with Coffin-Siris syndrome, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head (microcephaly). Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present.

MalaCards based summary : Coffin-Siris Syndrome 1, also known as coffin-siris syndrome, is related to coffin-siris syndrome 4 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 Thermogenesis and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Affiliated tissues include heart, kidney and eye, 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.

NIH Rare Diseases : 52 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 , DPF2 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 : 56 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)

KEGG : 36 Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth finger and/or toe. Recently, it has been reported that mutations in genes encoding subunits of the SWI/SNF complex cause this disease.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 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 9
Coffin-Siris Syndrome 5 Coffin-Siris Syndrome 6
Coffin-Siris Syndrome 7 Coffin-Siris Syndrome 8
Coffin-Siris Syndrome 10

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 4 32.8 SMARCE1 SMARCA4 H2AC18 CMAS ARID2
2 coffin-siris syndrome 3 32.7 SMARCE1 SMARCB1 H2AC18 CSGALNACT2 CMAS CHSY3
3 coffin-siris syndrome 2 32.6 SMARCE1 H2AC18 CSGALNACT2 CMAS CHSY3 CHPF2
4 hypertrichosis 32.3 SMARCE1 SMARCC2 SMARCB1 SMARCA4 DPF2 ARID2
5 nicolaides-baraitser syndrome 32.2 SMARCA2 ARID1B
6 medulloblastoma 31.4 SOX4 SOX11 SMARCB1 SMARCA4 ARID1B ARID1A
7 ovarian small cell carcinoma 31.3 SMARCB1 SMARCA4
8 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 13.0
9 churg-strauss syndrome 12.1
10 brachymorphism-onychodysplasia-dysphalangism syndrome 11.9
11 autosomal dominant deafness-onychodystrophy syndrome 11.6
12 autoimmune lymphoproliferative syndrome 11.4
13 superficial siderosis 11.4
14 coffin-siris syndrome 9 11.2
15 coffin-siris syndrome 5 11.2
16 coffin-siris syndrome 6 11.2
17 coffin-siris syndrome 7 11.2
18 coffin-siris syndrome 8 11.2
19 coffin-siris syndrome 10 11.2
20 alacrima, achalasia, and mental retardation syndrome 11.0
21 arid1b-related disorder 10.8
22 microcephaly 10.8
23 spinal canal and spinal cord meningioma 10.7 SMARCE1 SMARCB1 ARID1B
24 kidney rhabdoid cancer 10.7 SMARCC2 SMARCB1 SMARCA4
25 endometrioid ovary carcinoma 10.7 SMARCA4 H2AC18 ARID1B ARID1A
26 spinal meningioma 10.7 SMARCE1 SMARCB1 ARID1B
27 alpha thalassemia-x-linked intellectual disability syndrome 10.7 SMARCA4 SMARCA2 H2AC18
28 immunodeficiency-centromeric instability-facial anomalies syndrome 10.7 SMARCA4 SMARCA2 H2AC18
29 peripheral nerve schwannoma 10.7 SMARCE1 SMARCB1
30 ovary adenocarcinoma 10.7 SMARCA4 H2AC18 ARID1A
31 schizophrenia 7 10.7 SMARCA2 H2AC18
32 hypotonia 10.7
33 neurilemmomatosis 10.7 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2
34 enamel erosion 10.7 SMARCA4 SMARCA2
35 charge syndrome 10.7 SOX11 SMARCA4 SMARCA2
36 juvenile type testicular granulosa cell tumor 10.7 SMARCB1 SMARCA4
37 rhabdoid cancer 10.7 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 H2AC18
38 non-syndromic intellectual disability 10.7 SOX11 SMARCE1 SMARCB1 SMARCA4 SMARCA2 H2AC18
39 tooth erosion 10.7 SMARCA4 SMARCA2
40 ovarian carcinosarcoma 10.7 H2AC18 ARID1B
41 root caries 10.7 SMARCA4 SMARCA2
42 chromosome 6q24-q25 deletion syndrome 10.7 SMARCA2 ARID1B
43 alpha-thalassemia 10.6 SMARCA4 SMARCA2 H2AC18
44 uterine carcinosarcoma 10.6 SOX4 ARID1B ARID1A
45 allergic angiitis 10.6
46 clear cell meningioma 10.6 SMARCE1 SMARCB1
47 dandy-walker syndrome 10.6
48 tumor predisposition syndrome 10.6 SMARCB1 SMARCA4
49 cornelia de lange syndrome 10.5 SMARCA2 H2AC18 ARID1B
50 borjeson-forssman-lehmann syndrome 10.5

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:

58 31 (show top 50) (show all 109)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
6 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
9 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
10 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
11 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
12 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
13 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
14 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
15 slow-growing hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002217
16 hypoplastic fifth fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0008398
17 aplasia/hypoplasia of the distal phalanx of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009239
18 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
19 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
20 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
21 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
22 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
23 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
24 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
25 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
26 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
27 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
28 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
29 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
30 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
31 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
32 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
33 aplasia/hypoplasia of the patella 58 31 frequent (33%) Frequent (79-30%) HP:0006498
34 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
35 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
36 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
37 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
38 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
39 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
40 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
41 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
42 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
43 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272
44 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
45 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
46 lacrimation abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000632
47 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
48 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
49 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
50 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears
simple ears

Head And Neck Face:
short philtrum
facial hypertrichosis
coarse facies
small chin

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

Voice:
hoarse voice
high-pitched voice

Neurologic Central Nervous System:
severe expressive language delay
mental retardation
delayed psychomotor development
diminishing use of speech
seizures (in some patients)
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)

Neurologic Behavioral Psychiatric Manifestations:
obsessive compulsive disorder (in some patients)
stubborness (in some patients)
dislikes presence of others (in some patients)

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

Head And Neck Nose:
broad nasal tip

Skin Nails Hair Hair:
sparse scalp hair
long eyelashes
lumbosacral hirsutism
bushy eyebrows
hypertrichosis (diminishes with age in some patients)

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

Skin Nails Hair Nails:
hypoplastic nails
aplastic nails (absent fifth finger nail in some patients)

Head And Neck Teeth:
delayed dentition

Abdomen Gastrointestinal:
feeding problems

Skin Nails Hair Skin:
hyperkeratotic plaques (on lower limbs and back in some patients)

Clinical features from OMIM:

135900

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.6 DPF2 SMARCE1 ARID1A SMARCA4 SMARCB1
2 Increased Nanog expression GR00371-A-2 9.6 ARID2 DPF2 SMARCE1 SOX11
3 Increased Nanog expression GR00371-A-3 9.6 ARID2 DPF2 ARID1A
4 Increased Nanog expression GR00371-A-4 9.6 SOX11
5 Increased Nanog expression GR00371-A-5 9.6 ARID1A

MGI Mouse Phenotypes related to Coffin-Siris Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ARID1A ARID1B CHPF CHSY3 CSGALNACT2 DPF2
2 cardiovascular system MP:0005385 10.13 ARID1A ARID1B ARID2 CHSY3 DPF2 SMARCA4
3 mortality/aging MP:0010768 10.07 ARID1A ARID1B ARID2 CSGALNACT2 DPF2 SMARCA2
4 integument MP:0010771 9.97 ARID1B CHSY3 DPF2 SMARCA2 SMARCA4 SMARCB1
5 normal MP:0002873 9.85 ARID1A CHPF CSGALNACT2 DPF2 SMARCA4 SMARCC2
6 limbs/digits/tail MP:0005371 9.8 CHPF CSGALNACT2 DPF2 SMARCA4 SOX11 SOX4
7 renal/urinary system MP:0005367 9.5 ARID1B CHSY3 DPF2 SMARCA2 SMARCA4 SMPD4
8 skeleton MP:0005390 9.28 ARID1A ARID1B CHPF CHSY3 CSGALNACT2 SMARCA2

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 29 ARID1B
2 Coffin-Siris Syndrome 29

Anatomical Context for Coffin-Siris Syndrome 1

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

40
Heart, Kidney, Eye, Brain, Ovary, Bone, Skin

Publications for Coffin-Siris Syndrome 1

Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 198)
# Title Authors PMID Year
1
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 61 24 56 6
23929686 2013
2
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 61 24 56 6
22426308 2012
3
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 61 24 56 6
22426309 2012
4
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 24 56 6
23906836 2013
5
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. 24 56 6
22405089 2012
6
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. 56 6
28323383 2017
7
De novo SOX11 mutations cause Coffin-Siris syndrome. 61 24 6
24886874 2014
8
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females. 56 6
15057123 2004
9
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. 61 24 56
11170086 2001
10
Brachymorphism-onychodysplasia-dysphalangism syndrome. 61 24 56
8445623 1993
11
The Coffin-Siris syndrome: report of a family and further delineation. 61 24 56
6499251 1984
12
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 24 6
22726846 2012
13
ARID1B-Related Disorder 61 6
31132234 2019
14
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. 61 56
25169447 2014
15
Coffin-Siris Syndrome 61 6
23556151 2013
16
Is this the Coffin-Siris syndrome or the BOD syndrome? 61 56
19215055 2009
17
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. 61 56
18203175 2008
18
Upper gastrointestinal malformations in Coffin-Siris syndrome. 61 56
17523151 2007
19
Autosomal dominant syndrome resembling Coffin-Siris syndrome. 61 56
16691594 2006
20
Premature thelarche in Coffin-Siris syndrome. 61 56
12910500 2003
21
Dandy-Walker variant in Coffin-Siris syndrome. 61 56
11298377 2001
22
Candidate region for Coffin-Siris syndrome at 7q32-->34. 61 56
10925390 2000
23
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. 61 56
9286450 1997
24
Hypoglycemia in Coffin-Siris syndrome. 61 56
8849011 1995
25
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. 61 56
8591667 1995
26
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. 61 56
8775417 1995
27
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. 61 56
1724113 1991
28
Coffin-Siris syndrome with normal plasma biotinidase activity. 61 56
1915529 1991
29
Coffin-Siris syndrome. 61 56
1865473 1991
30
Partial biotinidase deficiency associated with Coffin-Siris syndrome. 61 56
2373113 1990
31
The Coffin-Siris syndrome. 61 56
2352263 1990
32
The Coffin-Siris syndrome in two siblings. 61 56
3725452 1986
33
Coffin-Siris syndrome. Neuropathologic findings. 61 56
3985811 1985
34
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. 61 56
7294058 1981
35
The Coffin-Siris syndrome: five new cases including two siblings. 61 56
665592 1978
36
The Coffin-Siris syndrome. 61 56
645658 1978
37
Coffin-Siris syndrome. Two new cases. 61 56
4708277 1973
38
Expanding the phenotypic spectrum associated with DPF2: A new case report. 61 52
31207137 2019
39
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. 61 24
28884947 2017
40
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. 61 24
28124119 2017
41
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. 61 24
26543203 2016
42
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 61 24
26395437 2016
43
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. 61 24
26364901 2015
44
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 61 24
25724810 2015
45
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay. 61 24
25250687 2014
46
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. 61 24
25081545 2014
47
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. 61 24
25169878 2014
48
The ARID1B phenotype: what we have learned so far. 61 24
25169814 2014
49
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. 61 24
25099957 2014
50
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 61 24
25168959 2014

Variations for Coffin-Siris Syndrome 1

ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

6 (show top 50) (show all 195) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter)SNV Pathogenic 210275 rs753933273 6:157405907-157405907 6:157084773-157084773
2 ARID1B NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter)SNV Pathogenic 210277 rs797045272 6:157406006-157406006 6:157084872-157084872
3 ARID1B NM_020732.3(ARID1B):c.5056dup (p.Tyr1686fs)duplication Pathogenic 210298 rs797045279 6:157527330-157527331 6:157206196-157206197
4 ARID1B NM_020732.3(ARID1B):c.5151del (p.Lys1718fs)deletion Pathogenic 210299 rs797045280 6:157527425-157527425 6:157206291-157206291
5 ARID1B NM_020732.3(ARID1B):c.5153del (p.Lys1718fs)deletion Pathogenic 210300 rs797045281 6:157527427-157527427 6:157206293-157206293
6 ARID1B NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter)SNV Pathogenic 210302 rs797045282 6:157527679-157527679 6:157206545-157206545
7 ARID1B NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter)SNV Pathogenic 210306 rs797045283 6:157528243-157528243 6:157207109-157207109
8 ARID1B NM_017519.2(ARID1B):c.6061C>T (p.Gln2021Ter)SNV Pathogenic 224135 rs869312697 6:157528375-157528375 6:157207241-157207241
9 ARID1B NM_001363725.2(ARID1B):c.-48C>TSNV Pathogenic 224158 rs869312712 6:157406000-157406000 6:157084866-157084866
10 ARID1A NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter)SNV Pathogenic 30294 rs387906846 1:27100207-27100207 1:26773716-26773716
11 ARID1B NM_017519.2(ARID1B):c.3880C>T (p.Gln1294Ter)SNV Pathogenic 31208 rs387907140 6:157517355-157517355 6:157196221-157196221
12 ARID1B NM_017519.2(ARID1B):c.6424_6434del (p.Ser2142fs)deletion Pathogenic 31209 rs876657379 6:157528737-157528747 6:157207603-157207613
13 ARID1B NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter)SNV Pathogenic 31210 rs387907141 6:157502271-157502271 6:157181137-157181137
14 ARID1B NM_017519.2(ARID1B):c.3284_3285del (p.Lys1095fs)deletion Pathogenic 31211 rs876657380 6:157502289-157502290 6:157181155-157181156
15 ARID1B NM_017519.2(ARID1B):c.3999T>A (p.Tyr1333Ter)SNV Pathogenic 31212 rs748363079 6:157519969-157519969 6:157198835-157198835
16 ARID1B NM_017519.2(ARID1B):c.1864C>T (p.Gln622Ter)SNV Pathogenic 31213 rs387907142 6:157222636-157222636 6:156901502-156901502
17 ARID1B NM_017519.2(ARID1B):c.5593del (p.Asp1865fs)deletion Pathogenic 31214 rs876657381 6:157527907-157527907 6:157206773-157206773
18 ARID1B NM_017519.2(ARID1B):c.5290A>T (p.Lys1764Ter)SNV Pathogenic 31215 rs387907143 6:157527604-157527604 6:157206470-157206470
19 ARID1B NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter)SNV Pathogenic 31216 rs387907144 6:157502190-157502190 6:157181056-157181056
20 ARID1B NM_017519.2(ARID1B):c.4583_4592del (p.Gln1528fs)deletion Pathogenic 31217 rs876657382 6:157522347-157522356 6:157201213-157201222
21 ARID1B NM_017519.2(ARID1B):c.6216_6217del (p.Leu2073_Cys2074insTer)deletion Pathogenic 267263 rs886040958 6:157528529-157528530 6:157207395-157207396
22 ARID1B NM_017519.2(ARID1B):c.5527_5530AAGA[1] (p.Lys1844fs)short repeat Pathogenic 280515 rs886041706 6:157527838-157527841 6:157206704-157206707
23 ARID1B NM_017519.2(ARID1B):c.3650+1G>CSNV Pathogenic 374317 rs1057518691 6:157510915-157510915 6:157189781-157189781
24 ARID1B NM_020732.3(ARID1B):c.1483C>T (p.Gln495Ter)SNV Pathogenic 434378 rs1554248236 6:157100546-157100546 6:156779412-156779412
25 ARID1B NM_020732.3(ARID1B):c.1899dup (p.Ser634fs)duplication Pathogenic 434379 rs1554265319 6:157222631-157222632 6:156901497-156901498
26 ARID1B NM_020732.3(ARID1B):c.2465dup (p.Gln823fs)duplication Pathogenic 434380 rs1554301230 6:157454250-157454251 6:157133116-157133117
27 ARID1B NM_020732.3(ARID1B):c.3430C>T (p.Gln1144Ter)SNV Pathogenic 434384 rs1554231836 6:157505449-157505449 6:157184315-157184315
28 ARID1B NM_020732.3(ARID1B):c.3450del (p.Phe1150fs)deletion Pathogenic 434385 rs1554231845 6:157505467-157505467 6:157184333-157184333
29 ARID1B NM_020732.3(ARID1B):c.3898C>T (p.Gln1300Ter)SNV Pathogenic 434386 rs1554234341 6:157517334-157517334 6:157196200-157196200
30 ARID1B NM_020732.3(ARID1B):c.5830C>T (p.Arg1944Ter)SNV Pathogenic 431136 rs1028186690 6:157528105-157528105 6:157206971-157206971
31 ARID1B NM_017519.2(ARID1B):c.1802dup (p.Tyr601Ter)duplication Pathogenic 438280 rs1554265275 6:157222573-157222574 6:156901439-156901440
32 ARID1B NM_001363725.2(ARID1B):c.-32dupduplication Pathogenic 438279 rs1554294698 6:157406013-157406014 6:157084879-157084880
33 ARID1B NM_020732.3(ARID1B):c.3345+2T>GSNV Pathogenic 438281 rs1404726383 6:157502314-157502314 6:157181180-157181180
34 DPF2 NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)SNV Pathogenic 438643 rs1555031372 11:65113452-65113452 11:65345981-65345981
35 ARID1B NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter)SNV Pathogenic 488469 rs773740590 6:157517445-157517445 6:157196311-157196311
36 ARID1B NM_017519.2(ARID1B):c.6215_6242dup (p.Asn2082_Val2083insProLeuTer)duplication Pathogenic 488470 rs1554237992 6:157528527-157528528 6:157207393-157207394
37 ARID1B NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter)SNV Pathogenic 488678 rs1554237658 6:157528051-157528051 6:157206917-157206917
38 ARID1B NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter)SNV Pathogenic 503753 rs1554236040 6:157522598-157522598 6:157201464-157201464
39 ARID1B NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter)SNV Pathogenic 520639 rs1554256703 6:157150436-157150436 6:156829302-156829302
40 ARID1B NM_017519.2(ARID1B):c.3593dup (p.Pro1199fs)duplication Pathogenic 524204 rs1554232959 6:157510855-157510856 6:157189721-157189722
41 ARID1B NM_020732.3(ARID1B):c.1828C>T (p.Gln610Ter)SNV Pathogenic 560948 rs1554265271 6:157222561-157222561 6:156901427-156901427
42 ARID1B NM_020732.3(ARID1B):c.3228C>G (p.Tyr1076Ter)SNV Pathogenic 560949 rs1562328526 6:157502195-157502195 6:157181061-157181061
43 ARID1B NM_017519.2(ARID1B):c.3509del (p.Pro1170fs)deletion Pathogenic 560950 rs1562331655 6:157505566-157505566 6:157184432-157184432
44 ARID1B NM_020732.3(ARID1B):c.3737C>A (p.Ser1246Ter)SNV Pathogenic 560951 rs772973856 6:157511219-157511219 6:157190085-157190085
45 ARID1B NM_020732.3(ARID1B):c.4536G>A (p.Trp1512Ter)SNV Pathogenic 560952 rs1554235834 6:157522264-157522264 6:157201130-157201130
46 ARID1B NM_017519.2(ARID1B):c.4850del (p.Asp1617fs)deletion Pathogenic 560953 rs1562347066 6:157522617-157522617 6:157201483-157201483
47 ARID1B NM_017519.2(ARID1B):c.6661del (p.Leu2221fs)deletion Pathogenic 560954 rs1562355401 6:157528975-157528975 6:157207841-157207841
48 subset of 88 genes: ARID1B , ERMARD 46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dncomplex Pathogenic 561258 6:151443333-171115067
49 ARID1B NM_020732.3(ARID1B):c.6382C>T (p.Arg2128Ter)SNV Pathogenic 448984 rs1554238072 6:157528657-157528657 6:157207523-157207523
50 ARID1B NM_020732.3(ARID1B):c.4140C>G (p.Tyr1380Ter)SNV Pathogenic 585304 rs377021700 6:157521868-157521868 6:157200734-157200734

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

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 219437 7 126900000 142800000 Copy number Coffin-Siris syndrome

Expression for Coffin-Siris Syndrome 1

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

Pathways for Coffin-Siris Syndrome 1

Pathways related to Coffin-Siris Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Thermogenesis hsa04714

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 H2AC18
2
Show member pathways
13.29 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 CHPF2
3
Show member pathways
12.45 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 H2AC18
4
Show member pathways
12.42 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2
5
Show member pathways
12.29 CSGALNACT2 CHSY3 CHPF2 CHPF
6 12.21 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2 ARID1A
7
Show member pathways
11.97 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1A
8
Show member pathways
11.59 SMARCC2 SMARCB1 SMARCA4 SMARCA2
9 11.4 SMARCE1 SMARCA2 ARID1A
10
Show member pathways
11.01 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1B

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 nucleus GO:0005634 10.3 SOX4 SOX11 SMPD4 SMARCE1 SMARCC2 SMARCB1
2 nucleoplasm GO:0005654 10.21 SOX4 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4
3 nuclear chromatin GO:0000790 9.96 SOX4 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4
4 Golgi membrane GO:0000139 9.88 SMPD4 CSGALNACT2 CHSY3 CHPF2 CHPF
5 Golgi cisterna membrane GO:0032580 9.67 CSGALNACT2 CHSY3 CHPF2 CHPF
6 npBAF complex GO:0071564 9.63 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1A
7 brahma complex GO:0035060 9.5 SMARCB1 ARID1B ARID1A
8 SWI/SNF complex GO:0016514 9.5 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1B
9 SWI/SNF superfamily-type complex GO:0070603 9.4 ARID1B ARID1A
10 nBAF complex GO:0071565 9.23 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 DPF2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 SOX4 SOX11 SMARCB1 SMARCA4 SMARCA2 DPF2
2 regulation of transcription by RNA polymerase II GO:0006357 10.05 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1A
3 negative regulation of transcription, DNA-templated GO:0045892 10 SMARCE1 SMARCC2 SMARCA4 SMARCA2 DPF2
4 nervous system development GO:0007399 9.97 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
5 positive regulation of transcription, DNA-templated GO:0045893 9.91 SOX4 SOX11 SMARCC2 SMARCA4 SMARCA2 ARID1A
6 chromatin organization GO:0006325 9.91 SMARCE1 SMARCC2 SMARCB1 SMARCA4 H2AC18 DPF2
7 chromatin remodeling GO:0006338 9.7 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1B
8 chondroitin sulfate biosynthetic process GO:0030206 9.67 CSGALNACT2 CHSY3 CHPF2 CHPF
9 positive regulation by host of viral transcription GO:0043923 9.61 SMARCB1 SMARCA4
10 sympathetic nervous system development GO:0048485 9.61 SOX4 SOX11
11 limb bud formation GO:0060174 9.59 SOX4 SOX11
12 chromatin-mediated maintenance of transcription GO:0048096 9.58 ARID1B ARID1A
13 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.57 SMARCB1 SMARCA4
14 neural tube formation GO:0001841 9.56 SOX4 SOX11
15 neuroepithelial cell differentiation GO:0060563 9.55 SOX4 SOX11
16 glial cell proliferation GO:0014009 9.54 SOX4 SOX11
17 RNA polymerase I preinitiation complex assembly GO:0001188 9.52 SMARCB1 SMARCA4
18 sphingomyelin catabolic process GO:0006685 9.51 SMPD4 SMPD2
19 glial cell development GO:0021782 9.49 SOX4 SOX11
20 noradrenergic neuron differentiation GO:0003357 9.48 SOX4 SOX11
21 cardiac ventricle formation GO:0003211 9.46 SOX4 SOX11
22 ATP-dependent chromatin remodeling GO:0043044 9.43 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1A
23 positive regulation of glucose mediated signaling pathway GO:1902661 9.4 SMARCB1 SMARCA4
24 nucleosome disassembly GO:0006337 9.1 SMARCE1 SMARCC2 SMARCB1 SMARCA4 ARID2 ARID1A

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 DNA binding GO:0003677 10.11 SOX4 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.87 SOX4 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4
3 histone binding GO:0042393 9.73 SMARCC2 SMARCA4 SMARCA2 DPF2
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.71 SMARCE1 SMARCC2 SMARCB1 SMARCA4
5 nucleosomal DNA binding GO:0031492 9.56 SMARCE1 SMARCC2 SMARCB1 SMARCA4
6 nuclear receptor binding GO:0016922 9.55 SMARCE1 ARID1A
7 lysine-acetylated histone binding GO:0070577 9.54 SMARCA4 DPF2
8 Tat protein binding GO:0030957 9.52 SMARCB1 SMARCA4
9 hydrolase activity, acting on acid anhydrides GO:0016817 9.51 SMARCA4 SMARCA2
10 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.49 SMARCB1 SMARCA4
11 sphingomyelin phosphodiesterase activity GO:0004767 9.48 SMPD4 SMPD2
12 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.46 CHSY3 CHPF
13 acetylgalactosaminyltransferase activity GO:0008376 9.46 CSGALNACT2 CHSY3 CHPF2 CHPF
14 transcription coactivator activity GO:0003713 9.28 SOX4 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4
15 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.13 CHSY3 CHPF2 CHPF

Sources for Coffin-Siris Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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