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CSS1
MCID: CFF008
MIFTS: 56

Coffin-Siris Syndrome 1 (CSS1)

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

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MalaCards integrated aliases for Coffin-Siris Syndrome 1:

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

Characteristics:

Orphanet epidemiological data:

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

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype


HPO:

33
coffin-siris syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic


GeneReviews:

25
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: 35
Orphanet: 60  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Coffin-Siris Syndrome 1

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UniProtKB/Swiss-Prot : 76 Coffin-Siris syndrome 1: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

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

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

Genetics Home Reference : 26 Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.

NIH Rare Diseases : 54 Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped �??pinky�?� toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.

OMIM : 58 Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). (135900)

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

GeneReviews: NBK131811
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Related Diseases for Coffin-Siris Syndrome 1

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Diseases in the Coffin-Siris Syndrome 1 family:

Coffin-Siris Syndrome 2 Coffin-Siris Syndrome 3
Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 5
Coffin-Siris Syndrome 6 Coffin-Siris Syndrome 7
Coffin-Siris Syndrome 8

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 3 32.0 CHSY1 SMARCB1
2 coffin-siris syndrome 2 31.9 ARID1A CHSY1 CRYBB1
3 hypertrichosis 30.3 ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
4 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.9
5 brachymorphism-onychodysplasia-dysphalangism syndrome 11.8
6 eosinophilic granulomatosis with polyangiitis 11.5
7 autosomal dominant deafness-onychodystrophy syndrome 11.5
8 autoimmune lymphoproliferative syndrome 11.3
9 coffin-siris syndrome 4 11.1
10 coffin-siris syndrome 5 11.1
11 coffin-siris syndrome 6 11.1
12 coffin-siris syndrome 7 11.1
13 coffin-siris syndrome 8 11.1
14 churg-strauss syndrome 10.4
15 allergic angiitis 10.4
16 alacrima, achalasia, and mental retardation syndrome 10.4
17 hyperinsulinism 10.4
18 central nervous system sarcoma 10.3 SMARCA4 SMARCB1
19 rhabdoid cancer 10.3 SMARCA4 SMARCB1
20 hypotrichosis 10.3
21 diaphragmatic hernia, congenital 10.3
22 medulloblastoma 10.3
23 autism 10.3
24 craniosynostosis with fibular aplasia 10.3
25 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.3
26 hyperphosphatasia with mental retardation syndrome 1 10.3
27 biotinidase deficiency 10.3
28 mayer-rokitansky-kuster-hauser syndrome 10.3
29 coffin-lowry syndrome 10.3
30 nicolaides-baraitser syndrome 10.3
31 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
32 choanal atresia, posterior 10.3
33 mental retardation, autosomal dominant 27 10.3
34 small cell carcinoma 10.3
35 melanoma in congenital melanocytic nevus 10.3
36 microphthalmia 10.3
37 heart disease 10.3
38 epilepsy 10.3
39 astrocytoma 10.3
40 grade iii astrocytoma 10.3
41 ovarian small cell carcinoma 10.3
42 pituitary hypoplasia 10.3
43 hypoglycemia 10.3
44 growth hormone deficiency 10.3
45 tumor predisposition syndrome 10.2 SMARCA4 SMARCB1
46 pulmonary alveolar microlithiasis 10.2
47 borjeson-forssman-lehmann syndrome 10.1 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
48 neurilemmomatosis 10.1 SMARCB1 SMARCE1
49 glioma susceptibility 1 10.0
50 myositis 10.0

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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Human phenotypes related to Coffin-Siris Syndrome 1:

60 33 (show top 50) (show all 121)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 abnormality of the dentition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000164
6 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
7 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
8 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
9 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
10 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
11 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
12 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
13 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
14 long eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000527
15 slow-growing hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002217
16 hypoplastic fifth fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0008398
17 aplasia/hypoplasia of the distal phalanx of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009239
18 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
19 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
20 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
21 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
22 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
23 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
24 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
25 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
26 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
27 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
28 aplasia/hypoplasia of the cerebellum 60 33 frequent (33%) Frequent (79-30%) HP:0007360
29 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
30 depressed nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0000457
31 elbow dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0003042
32 dandy-walker malformation 60 33 frequent (33%) Frequent (79-30%) HP:0001305
33 aplasia/hypoplasia of the patella 60 33 frequent (33%) Frequent (79-30%) HP:0006498
34 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
35 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
36 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
37 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
38 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
39 ectopic kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000086
40 coxa valga 60 33 occasional (7.5%) Occasional (29-5%) HP:0002673
41 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
42 abnormality of the hip bone 60 33 occasional (7.5%) Occasional (29-5%) HP:0003272
43 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
44 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
45 bilateral single transverse palmar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0007598
46 lacrimation abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000632
47 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
48 abnormality of the clavicle 60 33 occasional (7.5%) Occasional (29-5%) HP:0000889
49 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
50 partial agenesis of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001338

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
simple ears

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

Head And Neck Nose:
broad nasal tip

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 Face:
short philtrum
facial hypertrichosis
coarse facies
small chin

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

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

27 (show all 45)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.09 CRYBB1 SMARCB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.09 CAPN12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 CAPN15 DPF2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.09 DPF2 SMARCB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.09 SMARCE1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.09 SRP9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.09 CRYBB1 DPF2 SMARCB1 SMARCE1 SRP9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.09 CAPN15
9 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.09 CAPN15
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.09 ARID1B CRYBB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.09 SRP9
12 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 CRYBB1 SRP9
13 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.09 ARID1B CRYBB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.09 ARID1B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 CAPN12 SRP9
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 ARID1B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.09 CAPN15 CRYBB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.09 DPF2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.09 SMARCB1 SMARCE1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.09 SMARCE1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.09 CRYBB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 DPF2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.09 SMARCB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.09 CAPN12 CAPN15
25 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.09 CRYBB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.09 SMARCE1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.09 CRYBB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.09 SMARCE1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.09 ARID1B CAPN12 CAPN15
30 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.09 CAPN12
31 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.09 CAPN15
32 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.09 CAPN12
33 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 SRP9
34 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.09 CAPN15
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.09 CAPN12
36 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.09 CAPN15
37 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.09 CAPN12
38 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.09 CAPN15 CRYBB1 SMARCB1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.09 CAPN12 SMARCB1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.09 SMARCE1
41 Increased Nanog expression GR00371-A-1 9.93 DPF2 SMARCE1 ARID1A SMARCA4 SMARCB1
42 Increased Nanog expression GR00371-A-2 9.93 ARID2 DPF2 SMARCE1 SOX11
43 Increased Nanog expression GR00371-A-3 9.93 ARID2 DPF2 ARID1A
44 Increased Nanog expression GR00371-A-4 9.93 SOX11
45 Increased Nanog expression GR00371-A-5 9.93 ARID1A
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 30 ARID1B
2 Coffin-Siris Syndrome 30
Sources

Anatomical Context for Coffin-Siris Syndrome 1

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

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

Publications for Coffin-Siris Syndrome 1

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Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 84)
# Title Authors Year
1
A novel human stem cell model for Coffin-Siris Syndrome like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival. ( 31035284 )
2019
2
Corpus callosum metrics predict severity of visuospatial and neuromotor dysfuntions in ARID1B mutations with Coffin-Siris syndrome. ( 30933046 )
2019
3
Raised intra-ocular pressure in the setting of Coffin-Siris syndrome. ( 30914783 )
2019
4
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ( 30696996 )
2019
5
Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation. ( 30581937 )
2019
6
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
7
Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report. ( 30499906 )
2018
8
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ( 30349098 )
2018
9
First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. ( 30276971 )
2018
10
A 69-year-old woman with Coffin-Siris syndrome. ( 30055038 )
2018
11
Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome. ( 29504208 )
2018
12
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. ( 29429572 )
2018
13
Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. ( 28787104 )
2018
14
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. ( 28608987 )
2017
15
Successful difficult airway management of a child with Coffin-siris syndrome. ( 28781848 )
2017
16
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. ( 28124119 )
2017
17
Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. ( 27672547 )
2016
18
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. ( 27264538 )
2016
19
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. ( 27264197 )
2016
20
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. ( 26543203 )
2016
21
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. ( 24569609 )
2014
22
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. ( 25298701 )
2014
23
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
24
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ( 25169651 )
2014
25
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. ( 25169447 )
2014
26
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. ( 25168959 )
2014
27
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. ( 25099957 )
2014
28
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. ( 25081545 )
2014
29
De novo SOX11 mutations cause Coffin-Siris syndrome. ( 24886874 )
2014
30
Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. ( 24700502 )
2014
31
Coffin-Siris syndrome is a SWI/SNF complex disorder. ( 23815551 )
2014
32
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. ( 23929686 )
2013
33
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. ( 22405089 )
2012
34
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
35
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. ( 22711679 )
2012
36
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. ( 22426309 )
2012
37
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. ( 22426308 )
2012
38
Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. ( 21452752 )
2011
39
Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report. ( 21059198 )
2010
40
Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. ( 20624500 )
2010
41
Neuroblastoma in a patient with Coffin-Siris syndrome. ( 19842870 )
2009
42
Is this the Coffin-Siris syndrome or the BOD syndrome? ( 19215055 )
2009
43
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )
2008
44
Upper gastrointestinal malformations in Coffin-Siris syndrome. ( 17523151 )
2007
45
Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. ( 16830329 )
2006
46
Autosomal dominant syndrome resembling Coffin-Siris syndrome. ( 16691594 )
2006
47
Anesthetic management in a child with Coffin-Siris syndrome. ( 15283836 )
2004
48
Premature thelarche in Coffin-Siris syndrome. ( 12910500 )
2003
49
Dandy-Walker variant in Coffin-Siris syndrome. ( 11298377 )
2001
50
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. ( 11170086 )
2001
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 335)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARID1B NM_020732.3(ARID1B): c.4038T> A (p.Tyr1346Ter) single nucleotide variant Pathogenic rs748363079 GRCh38 Chromosome 6, 157198835: 157198835
2 ARID1B NM_020732.3(ARID1B): c.1903C> T (p.Gln635Ter) single nucleotide variant Pathogenic rs387907142 GRCh37 Chromosome 6, 157222636: 157222636
3 ARID1B NM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter) single nucleotide variant Pathogenic rs387907140 GRCh37 Chromosome 6, 157517355: 157517355
4 ARID1B NM_020732.3(ARID1B): c.3919C> T (p.Gln1307Ter) single nucleotide variant Pathogenic rs387907140 GRCh38 Chromosome 6, 157196221: 157196221
5 ARID1B NM_020732.3(ARID1B): c.6463_6473del11 (p.Ser2155Leufs) deletion Pathogenic rs876657379 GRCh37 Chromosome 6, 157528738: 157528748
6 ARID1B NM_020732.3(ARID1B): c.6463_6473del11 (p.Ser2155Leufs) deletion Pathogenic rs876657379 GRCh38 Chromosome 6, 157207604: 157207614
7 ARID1B NM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter) single nucleotide variant Pathogenic rs387907141 GRCh37 Chromosome 6, 157502271: 157502271
8 ARID1B NM_020732.3(ARID1B): c.3304C> T (p.Arg1102Ter) single nucleotide variant Pathogenic rs387907141 GRCh38 Chromosome 6, 157181137: 157181137
9 ARID1B NM_020732.3(ARID1B): c.3323_3324delAA (p.Lys1108Argfs) deletion Pathogenic rs876657380 GRCh38 Chromosome 6, 157181156: 157181157
10 ARID1B NM_020732.3(ARID1B): c.3323_3324delAA (p.Lys1108Argfs) deletion Pathogenic rs876657380 GRCh37 Chromosome 6, 157502290: 157502291
11 ARID1B NM_020732.3(ARID1B): c.4038T> A (p.Tyr1346Ter) single nucleotide variant Pathogenic rs748363079 GRCh37 Chromosome 6, 157519969: 157519969
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_4628del10 (p.Gln1541Argfs) deletion Pathogenic rs876657382 GRCh38 Chromosome 6, 157201213: 157201222
20 ARID1B NM_020732.3(ARID1B): c.4619_4628del10 (p.Gln1541Argfs) deletion Pathogenic rs876657382 GRCh37 Chromosome 6, 157522347: 157522356
21 SMARCA4 NM_001128849.1(SMARCA4): c.1114T> C (p.Tyr372His) single nucleotide variant Benign/Likely benign rs140192268 GRCh37 Chromosome 19, 11098596: 11098596
22 SMARCA4 NM_001128849.1(SMARCA4): c.1114T> C (p.Tyr372His) single nucleotide variant Benign/Likely benign rs140192268 GRCh38 Chromosome 19, 10987920: 10987920
23 SMARCA4 NM_001128849.1(SMARCA4): c.1413G> A (p.Lys471=) single nucleotide variant Benign rs17001073 GRCh37 Chromosome 19, 11101993: 11101993
24 SMARCA4 NM_001128849.1(SMARCA4): c.1413G> A (p.Lys471=) single nucleotide variant Benign rs17001073 GRCh38 Chromosome 19, 10991317: 10991317
25 SMARCA4 NM_001128849.1(SMARCA4): c.1419+8C> T single nucleotide variant Benign rs115492175 GRCh37 Chromosome 19, 11102007: 11102007
26 SMARCA4 NM_001128849.1(SMARCA4): c.1419+8C> T single nucleotide variant Benign rs115492175 GRCh38 Chromosome 19, 10991331: 10991331
27 SMARCA4 NM_001128849.1(SMARCA4): c.1509A> G (p.Ala503=) single nucleotide variant Benign rs17001075 GRCh37 Chromosome 19, 11105593: 11105593
28 SMARCA4 NM_001128849.1(SMARCA4): c.1509A> G (p.Ala503=) single nucleotide variant Benign rs17001075 GRCh38 Chromosome 19, 10994917: 10994917
29 SMARCA4 NM_001128849.1(SMARCA4): c.1524T> C (p.His508=) single nucleotide variant Benign rs7935 GRCh37 Chromosome 19, 11105608: 11105608
30 SMARCA4 NM_001128849.1(SMARCA4): c.1524T> C (p.His508=) single nucleotide variant Benign rs7935 GRCh38 Chromosome 19, 10994932: 10994932
31 SMARCA4 NM_001128849.1(SMARCA4): c.4053C> T (p.Asp1351=) single nucleotide variant Benign rs28997582 GRCh37 Chromosome 19, 11145691: 11145691
32 SMARCA4 NM_001128849.1(SMARCA4): c.4053C> T (p.Asp1351=) single nucleotide variant Benign rs28997582 GRCh38 Chromosome 19, 11035015: 11035015
33 SMARCA4 NM_001128849.1(SMARCA4): c.4590C> T (p.Tyr1530=) single nucleotide variant Benign/Likely benign rs139505007 GRCh37 Chromosome 19, 11169000: 11169000
34 SMARCA4 NM_001128849.1(SMARCA4): c.4590C> T (p.Tyr1530=) single nucleotide variant Benign/Likely benign rs139505007 GRCh38 Chromosome 19, 11058324: 11058324
35 SMARCA4 NM_001128849.1(SMARCA4): c.4680C> T (p.Asp1560=) single nucleotide variant Benign rs9105 GRCh37 Chromosome 19, 11169514: 11169514
36 SMARCA4 NM_001128849.1(SMARCA4): c.4680C> T (p.Asp1560=) single nucleotide variant Benign rs9105 GRCh38 Chromosome 19, 11058838: 11058838
37 SMARCA4 NM_001128849.1(SMARCA4): c.4983T> C (p.Asp1661=) single nucleotide variant Benign rs7275 GRCh37 Chromosome 19, 11170839: 11170839
38 SMARCA4 NM_001128849.1(SMARCA4): c.4983T> C (p.Asp1661=) single nucleotide variant Benign rs7275 GRCh38 Chromosome 19, 11060163: 11060163
39 SMARCA4 NM_001128849.1(SMARCA4): c.915G> A (p.Pro305=) single nucleotide variant Benign rs149573400 GRCh37 Chromosome 19, 11098397: 11098397
40 SMARCA4 NM_001128849.1(SMARCA4): c.915G> A (p.Pro305=) single nucleotide variant Benign rs149573400 GRCh38 Chromosome 19, 10987721: 10987721
41 SMARCA4 NM_001128849.1(SMARCA4): c.930C> A (p.Arg310=) single nucleotide variant Benign/Likely benign rs146141457 GRCh37 Chromosome 19, 11098412: 11098412
42 SMARCA4 NM_001128849.1(SMARCA4): c.930C> A (p.Arg310=) single nucleotide variant Benign/Likely benign rs146141457 GRCh38 Chromosome 19, 10987736: 10987736
43 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh37 Chromosome 22, 24167513: 24167513
44 SMARCB1 NM_003073.4(SMARCB1): c.897G> A (p.Ser299=) single nucleotide variant Benign rs2229354 GRCh38 Chromosome 22, 23825326: 23825326
45 SMARCA4 NM_001128849.1(SMARCA4): c.589C> T (p.Pro197Ser) single nucleotide variant Benign/Likely benign rs200664441 GRCh38 Chromosome 19, 10986422: 10986422
46 SMARCA4 NM_001128849.1(SMARCA4): c.589C> T (p.Pro197Ser) single nucleotide variant Benign/Likely benign rs200664441 GRCh37 Chromosome 19, 11097098: 11097098
47 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh38 Chromosome 6, 157084773: 157084773
48 ARID1B NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs753933273 GRCh37 Chromosome 6, 157405907: 157405907
49 ARID1B NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs797045272 GRCh37 Chromosome 6, 157406006: 157406006
50 ARID1B NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter) single nucleotide variant Pathogenic rs797045272 GRCh38 Chromosome 6, 157084872: 157084872

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
Sources

Expression for Coffin-Siris Syndrome 1

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

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

# Super pathways Score Top Affiliating Genes
1
Chromatin organization 67
Show member pathways
 12.58 ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
2
Gastric cancer 38
Show member pathways
 12.1 ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
3
Chromatin Regulation / Acetylation 4
12.03 ARID1A ARID2 SMARCA4 SMARCB1
4
AMPK Enzyme Complex Pathway 65
Show member pathways
 11.69 ARID1A SMARCA4 SMARCB1 SMARCE1
5
Transcription Ligand-dependent activation of the ESR1/SP pathway 23
Show member pathways
 10.87 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
Sources

GO Terms for Coffin-Siris Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.65 ARID1A DPF2 SMARCA4 SMARCB1 SMARCE1
2 Golgi cisterna membrane GO:0032580 9.54 CHPF CHSY1 CHSY3
3 npBAF complex GO:0071564 9.46 ARID1A SMARCA4 SMARCB1 SMARCE1
4 SWI/SNF complex GO:0016514 9.35 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
5 SWI/SNF superfamily-type complex GO:0070603 9.32 ARID1A ARID1B
6 nBAF complex GO:0071565 9.1 ARID1A ARID1B DPF2 SMARCA4 SMARCB1 SMARCE1

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

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

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

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

Sources for Coffin-Siris Syndrome 1

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