CSS1
MCID: CFF008
MIFTS: 63

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 57 12 72 29 6 15
Coffin-Siris Syndrome 57 12 73 25 20 43 58 72 36 29 13 6 44 15 70
Fifth Digit Syndrome 57 12 25 20 43 72
Mental Retardation, Autosomal Dominant 12 57 72 70
Mrd12 57 12 72
Css1 57 12 72
Css 57 58 72
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 57 72
Dwarfism-Onychodysplasia 12 43
Hhid 57 72
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features; Hhid 57
Intellectual Disability with Absent Fifth Fingernail and Terminal Phalanx 20
Mental Retardation with Hypoplastic Fifth Fingernails and Toenails 43
Mental Retardation, Autosomal Dominant 12; Mrd12 57
Mental Retardation, Autosomal Dominant, Type 12 39
Autosomal Dominant Mental Retardation 12 12
Short Stature-Onychodysplasia. 12
Syndrome, Coffin-Siris, Type 1 39
Short Stature-Onychodysplasia 43
Coffin-Siris Syndrome; Css 57
Syndrome, Coffin-Siris 39

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®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

31
coffin-siris syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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

MedlinePlus Genetics : 43 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 eye, heart and kidney, and related phenotypes are intellectual disability and coarse facial features

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.

GARD : 20 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® : 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) (Updated 20-May-2021)

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 : 72 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 : 73 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 Coffin-Siris Syndrome 11

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

(show top 50) (show all 181)
# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 4 32.2 SMARCE1 SMARCA4 H2AC18 ARID2
2 coffin-siris syndrome 3 32.1 SMARCE1 SMARCB1 H2AC18 CHSY3 CHSY1 CHPF2
3 coffin-siris syndrome 2 32.1 SMARCE1 KIN H2AC18 CHSY1 CHPF2 CAPNS2
4 hypertrichosis 31.8 SOX4 SOX11 SMARCE1 SMARCD1 SMARCC2 SMARCB1
5 nicolaides-baraitser syndrome 31.5 SMARCA2 ARID1B
6 ovarian small cell carcinoma 31.0 SMARCB1 SMARCA4 ARID1A
7 atypical teratoid rhabdoid tumor 30.9 SMARCE1 SMARCC2 SMARCB1 SMARCA4
8 rhabdoid cancer 30.9 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 H2AC18
9 chromosome 16p13.3 deletion syndrome, proximal 30.9 SMARCA4 SMARCA2 H2AC18
10 medulloblastoma 30.5 SOX4 SMARCB1 SMARCA4 ARID1B ARID1A
11 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 11.8
12 churg-strauss syndrome 11.3
13 brachymorphism-onychodysplasia-dysphalangism syndrome 11.3
14 autosomal dominant deafness-onychodystrophy syndrome 11.2
15 autoimmune lymphoproliferative syndrome 11.1
16 superficial siderosis 11.1
17 coffin-siris syndrome 9 10.9
18 coffin-siris syndrome 5 10.9
19 coffin-siris syndrome 6 10.9
20 coffin-siris syndrome 7 10.9
21 coffin-siris syndrome 8 10.9
22 coffin-siris syndrome 10 10.9
23 coffin-siris syndrome 11 10.9
24 microcephaly 10.6
25 arid1b-related disorder 10.6
26 hypotonia 10.6
27 smarca4-deficient sarcoma of thorax 10.6 SMARCB1 SMARCA4 SMARCA2
28 endometrioid ovary carcinoma 10.6 SMARCA4 ARID1B ARID1A
29 juvenile type testicular granulosa cell tumor 10.6 SMARCB1 SMARCA4 SMARCA2
30 kidney rhabdoid cancer 10.6 SMARCC2 SMARCB1 SMARCA4
31 testicular granulosa cell tumor 10.6 SMARCB1 SMARCA4 SMARCA2
32 spinal canal and spinal cord meningioma 10.6 SMARCE1 SMARCC2 SMARCB1 SMARCA4 ARID1B
33 spinal meningioma 10.6 SMARCE1 SMARCC2 SMARCB1 SMARCA4 ARID1B
34 neurilemmomatosis 10.6 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2
35 clear cell meningioma 10.5 SMARCE1 SMARCB1 H2AC18
36 floating-harbor syndrome 10.5 SMARCA4 SMARCA2 H2AC18
37 alpha thalassemia-x-linked intellectual disability syndrome 10.5 SMARCA4 SMARCA2 H2AC18
38 non-syndromic intellectual disability 10.5 SOX11 SMARCE1 SMARCB1 SMARCA4 SMARCA2 H2AC18
39 clark-baraitser syndrome 10.5 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 DPF2
40 charge syndrome 10.5 SOX11 SMARCA4 SMARCA2 H2AC18
41 epilepsy, familial temporal lobe, 1 10.5 SMARCA4 SMARCA2 H2AC18
42 clear cell adenofibroma 10.5 SMARCA4 ARID1A
43 spondyloepiphyseal dysplasia with congenital joint dislocations 10.5 SMARCA4 SMARCA2 CHSY1
44 uv-sensitive syndrome 10.5 SMARCA4 SMARCA2 H2AC18
45 cartilage-hair hypoplasia 10.5 SMARCA4 SMARCA2 H2AC18
46 peripheral nerve schwannoma 10.5 SMARCE1 SMARCB1
47 immunodeficiency-centromeric instability-facial anomalies syndrome 10.5 SMARCA4 SMARCA2 H2AC18
48 schizophrenia 7 10.5 SMARCA2 H2AC18
49 small-cell carcinoma of the ovary of hypercalcemic type 10.5 SMARCA4 DPF2
50 basan syndrome 10.5 SMARCA4 SMARCA2

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 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
8 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
9 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
10 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
11 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
12 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
13 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
14 slow-growing hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002217
15 hypoplastic fifth fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0008398
16 aplasia/hypoplasia of the distal phalanx of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009239
17 hypotonia 31 hallmark (90%) HP:0001252
18 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
19 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
20 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
21 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
22 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
23 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
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 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
27 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
28 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
29 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
30 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
31 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
32 aplasia/hypoplasia of the patella 58 31 frequent (33%) Frequent (79-30%) HP:0006498
33 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
34 seizure 31 frequent (33%) HP:0001250
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 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272
40 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
41 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
42 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
43 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
44 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
45 lacrimation abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000632
46 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
47 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
48 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
49 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
50 partial agenesis of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001338

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
visual impairment
strabismus
long eyelashes
downslanting palpebral fissures
bushy eyebrows

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

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

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

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

Head And Neck Teeth:
delayed dentition

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 Mouth:
thick lower lip vermilion
thin upper lip vermilion
large mouth
lower lip droop

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

Voice:
hoarse voice
high-pitched voice

Head And Neck Nose:
broad nasal tip

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

Growth Height:
short stature (in some patients)

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

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

Clinical features from OMIM®:

135900 (Updated 20-May-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ARID1A ARID1B ARID2 CHSY3 DPF2 SMARCA4
2 integument MP:0010771 9.81 ARID1B CHSY1 CHSY3 DPF2 SMARCA2 SMARCA4
3 craniofacial MP:0005382 9.8 ARID1A ARID1B CHSY1 DPF2 SMARCA4 SOX11
4 mortality/aging MP:0010768 9.77 ARID1A ARID1B ARID2 CHSY1 DPF2 SMARCA2
5 renal/urinary system MP:0005367 9.23 ARID1B CHSY1 CHSY3 DPF2 SMARCA2 SMARCA4

Drugs & Therapeutics for Coffin-Siris Syndrome 1

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

Cochrane evidence based reviews: coffin-siris syndrome

Genetic Tests for Coffin-Siris Syndrome 1

Genetic tests related to Coffin-Siris Syndrome 1:

# 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
Eye, Heart, Kidney, Ovary, Cerebellum, Bone, Uterus

Publications for Coffin-Siris Syndrome 1

Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 61 57 25 6
23929686 2013
2
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 61 57 6 25
22426308 2012
3
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 61 25 6 57
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. 6 25 57
23906836 2013
5
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. 25 57 6
22405089 2012
6
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. 6 57
28323383 2017
7
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. 25 6 61
26364901 2015
8
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. 61 25 6
25169878 2014
9
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 61 25 6
25168959 2014
10
De novo SOX11 mutations cause Coffin-Siris syndrome. 25 61 6
24886874 2014
11
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. 61 6 25
23637025 2013
12
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females. 57 6
15057123 2004
13
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. 61 57 25
11170086 2001
14
Brachymorphism-onychodysplasia-dysphalangism syndrome. 61 25 57
8445623 1993
15
The Coffin-Siris syndrome: report of a family and further delineation. 57 25 61
6499251 1984
16
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 6 25
22726846 2012
17
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 61 6
29429572 2018
18
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. 6 61
30123105 2018
19
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. 61 6
27570168 2016
20
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. 61 57
25169447 2014
21
Coffin-Siris Syndrome 61 6
23556151 2013
22
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. 61 6
23010866 2012
23
Is this the Coffin-Siris syndrome or the BOD syndrome? 57 61
19215055 2009
24
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. 61 57
18203175 2008
25
Upper gastrointestinal malformations in Coffin-Siris syndrome. 61 57
17523151 2007
26
Autosomal dominant syndrome resembling Coffin-Siris syndrome. 61 57
16691594 2006
27
Premature thelarche in Coffin-Siris syndrome. 61 57
12910500 2003
28
Dandy-Walker variant in Coffin-Siris syndrome. 61 57
11298377 2001
29
Candidate region for Coffin-Siris syndrome at 7q32-->34. 57 61
10925390 2000
30
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. 57 61
9286450 1997
31
Hypoglycemia in Coffin-Siris syndrome. 61 57
8849011 1995
32
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. 61 57
8591667 1995
33
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. 61 57
8775417 1995
34
Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. 61 57
1493645 1992
35
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. 61 57
1724113 1991
36
Coffin-Siris syndrome with normal plasma biotinidase activity. 57 61
1915529 1991
37
Coffin-Siris syndrome. 61 57
1865473 1991
38
Partial biotinidase deficiency associated with Coffin-Siris syndrome. 57 61
2373113 1990
39
The Coffin-Siris syndrome. 57 61
2352263 1990
40
The Coffin-Siris syndrome in two siblings. 57 61
3725452 1986
41
Coffin-Siris syndrome. Neuropathologic findings. 61 57
3985811 1985
42
Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. 61 57
7294058 1981
43
The Coffin-Siris syndrome: five new cases including two siblings. 61 57
665592 1978
44
The Coffin-Siris syndrome. 57 61
645658 1978
45
Coffin-Siris syndrome. Two new cases. 57 61
4708277 1973
46
Expanding the phenotypic spectrum associated with DPF2: A new case report. 61 20
31207137 2019
47
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. 6
30526634 2018
48
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. 6
29286531 2018
49
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 6
28973083 2017
50
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. 61 25
28884947 2017

Variations for Coffin-Siris Syndrome 1

ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

6 (show top 50) (show all 405)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARID1A NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter) SNV Pathogenic 30293 rs387906845 GRCh37: 1:27092737-27092737
GRCh38: 1:26766246-26766246
2 ARID1A NM_006015.6(ARID1A):c.1113del (p.Gln372fs) Deletion Pathogenic 225843 rs875989848 GRCh37: 1:27024002-27024002
GRCh38: 1:26697511-26697511
3 ARID1A NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter) SNV Pathogenic 225844 rs875989849 GRCh37: 1:27099442-27099442
GRCh38: 1:26772951-26772951
4 ARID1A NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter) SNV Pathogenic 225842 rs879255270 GRCh37: 1:27106354-27106354
GRCh38: 1:26779863-26779863
5 ARID1A NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter) SNV Pathogenic 560946 rs1557591264 GRCh37: 1:27056352-27056352
GRCh38: 1:26729861-26729861
6 ARID1A NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs) Deletion Pathogenic 560947 rs1557620758 GRCh37: 1:27106523-27106527
GRCh38: 1:26780032-26780036
7 ARID1A NM_006015.6(ARID1A):c.2879-1G>A SNV Pathogenic 812670 rs1570607996 GRCh37: 1:27092947-27092947
GRCh38: 1:26766456-26766456
8 ARID1A NM_006015.6(ARID1A):c.5693del (p.Pro1898fs) Deletion Pathogenic 816871 rs1570621899 GRCh37: 1:27106078-27106078
GRCh38: 1:26779587-26779587
9 ARID1A NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter) SNV Pathogenic 984945 GRCh37: 1:27105920-27105920
GRCh38: 1:26779429-26779429
10 SMARCA4 NM_003072.4(SMARCA4):c.1633_1635AAG[1] (p.Lys546del) Microsatellite Pathogenic 30342 rs876657378 GRCh37: 19:11106926-11106928
GRCh38: 19:10996250-10996252
11 SMARCA4 NM_003072.4(SMARCA4):c.2576C>T (p.Thr859Met) SNV Pathogenic 30343 rs281875226 GRCh37: 19:11130337-11130337
GRCh38: 19:11019661-11019661
12 SMARCA4 NM_003072.4(SMARCA4):c.2761C>T (p.Leu921Phe) SNV Pathogenic 30345 rs281875228 GRCh37: 19:11132545-11132545
GRCh38: 19:11021869-11021869
13 SMARCA4 NM_003072.4(SMARCA4):c.3032T>C (p.Met1011Thr) SNV Pathogenic 30346 rs281875229 GRCh37: 19:11135065-11135065
GRCh38: 19:11024389-11024389
14 SMARCA4 NM_003072.4(SMARCA4):c.3469C>G (p.Arg1157Gly) SNV Pathogenic 30347 rs281875230 GRCh37: 19:11141492-11141492
GRCh38: 19:11030816-11030816
15 SMARCA4 NM_003072.4(SMARCA4):c.2851G>A (p.Gly951Arg) SNV Pathogenic 403671 rs1060499936 GRCh37: 19:11132635-11132635
GRCh38: 19:11021959-11021959
16 ARID1A NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs) Duplication Pathogenic 623658 rs1557570794 GRCh37: 1:27023643-27023644
GRCh38: 1:26697152-26697153
17 ARID1A NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter) SNV Pathogenic 973289 GRCh37: 1:27057894-27057894
GRCh38: 1:26731403-26731403
18 ARID1A NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter) SNV Pathogenic 986358 GRCh37: 1:27094488-27094488
GRCh38: 1:26767997-26767997
19 ARID1A NM_006015.6(ARID1A):c.394del (p.Val132fs) Deletion Pathogenic 210259 rs797045263 GRCh37: 1:27023285-27023285
GRCh38: 1:26696794-26696794
20 ARID1A NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter) SNV Pathogenic 434343 rs1485978447 GRCh37: 1:27105553-27105553
GRCh38: 1:26779062-26779062
21 ARID1A NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs) Deletion Pathogenic 434335 rs1553146165 GRCh37: 1:27023808-27023827
GRCh38: 1:26697317-26697336
22 SMARCB1 NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) SNV Pathogenic 30203 rs387906812 GRCh37: 22:24176339-24176339
GRCh38: 22:23834152-23834152
23 SMARCA4 NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys) SNV Pathogenic 807689 rs1600082188 GRCh37: 19:11106970-11106970
GRCh38: 19:10996294-10996294
24 ARID1A NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) Deletion Pathogenic 30292 rs797045262 GRCh37: 1:27022913-27022938
GRCh38: 1:26696422-26696447
25 SMARCA4 NM_003072.4(SMARCA4):c.2653C>T (p.Arg885Cys) SNV Pathogenic 30344 rs281875227 GRCh37: 19:11132437-11132437
GRCh38: 19:11021761-11021761
26 SOX11 NM_003108.4(SOX11):c.178T>C (p.Ser60Pro) SNV Pathogenic 139530 rs587777480 GRCh37: 2:5833031-5833031
GRCh38: 2:5692899-5692899
27 SOX11 NM_003108.4(SOX11):c.1286G>A (p.Trp429Ter) SNV Pathogenic 374396 rs1057518672 GRCh37: 2:5834139-5834139
GRCh38: 2:5694007-5694007
28 SOX11 NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser) SNV Pathogenic 807694 rs1572216329 GRCh37: 2:5833206-5833206
GRCh38: 2:5693074-5693074
29 ARID1B NM_020732.3(ARID1B):c.5151del (p.Lys1718fs) Deletion Pathogenic 210299 rs797045280 GRCh37: 6:157527425-157527425
GRCh38: 6:157206291-157206291
30 ARID1B NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter) SNV Pathogenic 210302 rs797045282 GRCh37: 6:157527679-157527679
GRCh38: 6:157206545-157206545
31 ARID1B NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter) SNV Pathogenic 210277 rs797045272 GRCh37: 6:157406006-157406006
GRCh38: 6:157084872-157084872
32 ARID1B NM_020732.3(ARID1B):c.5153del (p.Lys1718fs) Deletion Pathogenic 210300 rs797045281 GRCh37: 6:157527427-157527427
GRCh38: 6:157206293-157206293
33 ARID1B NM_020732.3(ARID1B):c.5056dup (p.Tyr1686fs) Duplication Pathogenic 210298 rs797045279 GRCh37: 6:157527330-157527331
GRCh38: 6:157206196-157206197
34 ARID1B NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter) SNV Pathogenic 210275 rs753933273 GRCh37: 6:157405907-157405907
GRCh38: 6:157084773-157084773
35 ARID1B NM_001363725.2(ARID1B):c.-48C>T SNV Pathogenic 224158 rs869312712 GRCh37: 6:157406000-157406000
GRCh38: 6:157084866-157084866
36 ARID1B NM_017519.2(ARID1B):c.6061C>T (p.Gln2021Ter) SNV Pathogenic 224135 rs869312697 GRCh37: 6:157528375-157528375
GRCh38: 6:157207241-157207241
37 ARID1B NM_017519.2(ARID1B):c.6216_6217del (p.Leu2073_Cys2074insTer) Deletion Pathogenic 267263 rs886040958 GRCh37: 6:157528529-157528530
GRCh38: 6:157207395-157207396
38 SMARCA4 NM_003072.5(SMARCA4):c.1357_1358del (p.Ile452_Thr453insTer) Deletion Pathogenic 1033307 GRCh37: 19:11101936-11101937
GRCh38: 19:10991260-10991261
39 ARID1A NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) SNV Pathogenic 30294 rs387906846 GRCh37: 1:27100207-27100207
GRCh38: 1:26773716-26773716
40 SMARCE1 NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) SNV Pathogenic 30316 rs387906857 GRCh37: 17:38793763-38793763
GRCh38: 17:40637511-40637511
41 ARID1B NM_017519.2(ARID1B):c.3880C>T (p.Gln1294Ter) SNV Pathogenic 31208 rs387907140 GRCh37: 6:157517355-157517355
GRCh38: 6:157196221-157196221
42 ARID1B NM_017519.2(ARID1B):c.6424_6434del (p.Ser2142fs) Deletion Pathogenic 31209 rs876657379 GRCh37: 6:157528737-157528747
GRCh38: 6:157207603-157207613
43 ARID1B NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) SNV Pathogenic 31210 rs387907141 GRCh37: 6:157502271-157502271
GRCh38: 6:157181137-157181137
44 ARID1B NM_017519.2(ARID1B):c.3284_3285del (p.Lys1095fs) Deletion Pathogenic 31211 rs876657380 GRCh37: 6:157502289-157502290
GRCh38: 6:157181155-157181156
45 ARID1B NM_017519.2(ARID1B):c.3999T>A (p.Tyr1333Ter) SNV Pathogenic 31212 rs748363079 GRCh37: 6:157519969-157519969
GRCh38: 6:157198835-157198835
46 ARID1B NM_017519.2(ARID1B):c.1864C>T (p.Gln622Ter) SNV Pathogenic 31213 rs387907142 GRCh37: 6:157222636-157222636
GRCh38: 6:156901502-156901502
47 ARID1B NM_017519.2(ARID1B):c.5593del (p.Asp1865fs) Deletion Pathogenic 31214 rs876657381 GRCh37: 6:157527907-157527907
GRCh38: 6:157206773-157206773
48 ARID1B NM_017519.2(ARID1B):c.5290A>T (p.Lys1764Ter) SNV Pathogenic 31215 rs387907143 GRCh37: 6:157527604-157527604
GRCh38: 6:157206470-157206470
49 ARID1B NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) SNV Pathogenic 31216 rs387907144 GRCh37: 6:157502190-157502190
GRCh38: 6:157181056-157181056
50 ARID1B NM_017519.2(ARID1B):c.4583_4592del (p.Gln1528fs) Deletion Pathogenic 31217 rs876657382 GRCh37: 6:157522347-157522356
GRCh38: 6:157201213-157201222

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
13.58 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
2
Show member pathways
13.14 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
3
Show member pathways
12.7 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
4
Show member pathways
12.28 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
5 12.25 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID2 ARID1A
6
Show member pathways
12.04 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
7
Show member pathways
11.64 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
8 11.57 SMARCD1 SMARCC2 SMARCA4
9 11.45 SMARCE1 SMARCA2 ARID1A
10
Show member pathways
11.07 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2

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 10.28 SOX4 SOX11 SMPD4 SMARCE1 SMARCD1 SMARCC2
2 nucleoplasm GO:0005654 10.18 SOX4 SOX11 SMARCE1 SMARCD1 SMARCC2 SMARCB1
3 chromatin GO:0000785 10.02 SOX4 SOX11 SMARCE1 SMARCC2 SMARCB1 SMARCA4
4 npBAF complex GO:0071564 9.7 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
5 Golgi cisterna membrane GO:0032580 9.61 CHSY3 CHSY1 CHPF2
6 SWI/SNF complex GO:0016514 9.56 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
7 brahma complex GO:0035060 9.43 SMARCB1 ARID1B ARID1A
8 nBAF complex GO:0071565 9.28 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.15 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 SOX4 SOX11 SMARCD1 SMARCB1 SMARCA4 SMARCA2
3 nervous system development GO:0007399 10.02 SOX11 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4
4 negative regulation of transcription, DNA-templated GO:0045892 10.01 SMARCE1 SMARCC2 SMARCA4 SMARCA2 DPF2
5 positive regulation of transcription, DNA-templated GO:0045893 9.97 SOX4 SOX11 SMARCE1 SMARCC2 SMARCA4 SMARCA2
6 chromatin organization GO:0006325 9.91 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 DPF2
7 chromatin remodeling GO:0006338 9.76 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
8 positive regulation by host of viral transcription GO:0043923 9.61 SMARCB1 SMARCA4
9 chondroitin sulfate biosynthetic process GO:0030206 9.61 CHSY3 CHSY1 CHPF2
10 sympathetic nervous system development GO:0048485 9.6 SOX4 SOX11
11 limb bud formation GO:0060174 9.59 SOX4 SOX11
12 neural tube formation GO:0001841 9.58 SOX4 SOX11
13 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.58 SMARCB1 SMARCA4
14 chromatin-mediated maintenance of transcription GO:0048096 9.58 SMARCD1 ARID1B ARID1A
15 glial cell proliferation GO:0014009 9.57 SOX4 SOX11
16 RNA polymerase I preinitiation complex assembly GO:0001188 9.56 SMARCB1 SMARCA4
17 neuroepithelial cell differentiation GO:0060563 9.54 SOX4 SOX11
18 glial cell development GO:0021782 9.51 SOX4 SOX11
19 ATP-dependent chromatin remodeling GO:0043044 9.5 SMARCE1 SMARCC2 SMARCB1 SMARCA4 SMARCA2 ARID1B
20 noradrenergic neuron differentiation GO:0003357 9.49 SOX4 SOX11
21 cardiac ventricle formation GO:0003211 9.48 SOX4 SOX11
22 positive regulation of glucose mediated signaling pathway GO:1902661 9.46 SMARCB1 SMARCA4
23 nucleosome disassembly GO:0006337 9.17 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 ARID2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.06 SOX4 SOX11 SMARCE1 SMARCB1 SMARCA4 SMARCA2
2 histone binding GO:0042393 9.71 SMARCC2 SMARCA4 SMARCA2 DPF2
3 nucleosomal DNA binding GO:0031492 9.56 SMARCE1 SMARCC2 SMARCB1 SMARCA4
4 acetylgalactosaminyltransferase activity GO:0008376 9.54 CHSY3 CHSY1 CHPF2
5 nuclear receptor binding GO:0016922 9.51 SMARCE1 ARID1A
6 lysine-acetylated histone binding GO:0070577 9.49 SMARCA4 DPF2
7 Tat protein binding GO:0030957 9.48 SMARCB1 SMARCA4
8 hydrolase activity, acting on acid anhydrides GO:0016817 9.46 SMARCA4 SMARCA2
9 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.43 SMARCB1 SMARCA4
10 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.33 CHSY3 CHSY1 CHPF2
11 transcription coactivator activity GO:0003713 9.23 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4 SMARCA2
12 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.13 CHSY3 CHSY1 CHPF2

Sources for Coffin-Siris Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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