Coffin-Siris Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CSS1 MCID: CFF008 MIFTS: 57	Coffin-Siris Syndrome 1 (CSS1) Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Coffin-Siris Syndrome 1

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

Dwarfism-Onychodysplasia ¹² ²⁶

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

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:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance autosomal dominant inheritance

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

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁶⁰

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0070042 DOID:1925

OMIM ⁵⁸ 135900

KEGG ³⁸ H01403

MeSH ⁴⁵ C536436 D000015 D008607

NCIt ⁵¹ C35321

SNOMED-CT ⁶⁹ 10007009

MESH via Orphanet ⁴⁶ C536436

ICD10 via Orphanet ³⁵ Q87.1

UMLS via Orphanet ⁷⁵ C0265338

Orphanet ⁶⁰ ORPHA1465

MedGen ⁴³ C0265338 C3281201

SNOMED-CT via HPO ⁷⁰ 103276001 111266001 11934000 more

UMLS ⁷⁴ C0265338 C3281201

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Summaries for Coffin-Siris Syndrome 1

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

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 57)

#	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	short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	12.9
4	brachymorphism-onychodysplasia-dysphalangism syndrome	11.8
5	autosomal dominant deafness-onychodystrophy syndrome	11.4
6	eosinophilic granulomatosis with polyangiitis	11.4
7	autoimmune lymphoproliferative syndrome	11.2
8	coffin-siris syndrome 4	11.0
9	coffin-siris syndrome 5	11.0
10	coffin-siris syndrome 6	11.0
11	coffin-siris syndrome 7	11.0
12	coffin-siris syndrome 8	11.0
13	alacrima, achalasia, and mental retardation syndrome	10.4
14	hyperinsulinism	10.4
15	churg-strauss syndrome	10.4
16	allergic angiitis	10.4
17	central nervous system sarcoma	10.3	SMARCA4 SMARCB1
18	rhabdoid cancer	10.3	SMARCA4 SMARCB1
19	diaphragmatic hernia, congenital	10.3
20	medulloblastoma	10.3
21	autism	10.3
22	craniosynostosis with fibular aplasia	10.3
23	biotinidase deficiency	10.3
24	neuroblastoma	10.3
25	coffin-lowry syndrome	10.3
26	vitiligo-associated multiple autoimmune disease susceptibility 1	10.3
27	choanal atresia, posterior	10.3
28	small cell carcinoma	10.3
29	microphthalmia	10.3
30	heart disease	10.3
31	epilepsy	10.3
32	astrocytoma	10.3
33	grade iii astrocytoma	10.3
34	pituitary hypoplasia	10.3
35	hypoglycemia	10.3
36	growth hormone deficiency	10.3
37	hypotrichosis	10.3
38	tumor predisposition syndrome	10.2	SMARCA4 SMARCB1
39	pulmonary alveolar microlithiasis	10.2
40	borjeson-forssman-lehmann syndrome	10.1	ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
41	neurilemmomatosis	10.1	SMARCB1 SMARCE1
42	hypertrichosis	10.1	SMARCE1 ARID1A ARID1B ARID2 SMARCA4 SMARCB1
43	glioma susceptibility 1	9.9
44	myositis	9.9
45	asthma	9.9
46	stroke, ischemic	9.9
47	autism spectrum disorder	9.9
48	sialadenitis	9.9
49	dermatitis	9.9
50	glioblastoma multiforme	9.9

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

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Symptoms & Phenotypes for Coffin-Siris Syndrome 1

Human phenotypes related to Coffin-Siris Syndrome 1:

⁶⁰ ³³ (show top 50) (show all 102)

#	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

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

Skin Nails Hair Hair:
sparse scalp hair
long eyelashes
hypertrichosis
bushy eyebrows
lumbosacral hirsutism

Neurologic Central Nervous System:
severe expressive language delay
mental retardation
delayed psychomotor development
seizures (in some patients)
moderate to severe hypotonia
more

Growth Height:
short stature (in some patients)

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

Skeletal Feet:
hypoplastic to absent terminal phalanges (especially fifth toe)

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

Head And Neck Nose:
broad nasal tip

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

Head And Neck Face:
coarse facies
facial hypertrichosis

Head And Neck Teeth:
delayed dentition

Abdomen Gastrointestinal:
feeding problems

Skin Nails Hair Nails:
hypoplastic to absent fifth finger- and toenails

Clinical features from OMIM:

135900

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

²⁷ (show all 46)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	10.1	CRYBB1 SMARCB1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	10.1	CAPN12
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.1	CAPN15 DPF2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	10.1	DPF2 SMARCB1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	10.1	SMARCE1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	10.1	SRP9
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	10.1	CRYBB1 DPF2 SMARCB1 SMARCE1 SRP9
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-125	10.1	CAPN15
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-135	10.1	CAPN15
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	10.1	ARID1B CRYBB1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	10.1	SRP9
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	10.1	CRYBB1 SRP9
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-157	10.1	ARID1B CRYBB1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	10.1	ARID1B
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	10.1	CAPN12 SRP9
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	10.1	ARID1B
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	10.1	CAPN15 CRYBB1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-172	10.1	DPF2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	10.1	SMARCB1 SMARCE1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	10.1	SMARCE1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	10.1	CRYBB1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	10.1	DPF2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-194	10.1	SMARCB1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-199	10.1	CAPN12 CAPN15
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.1	CRYBB1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	10.1	SMARCE1
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-30	10.1	CRYBB1
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	10.1	SMARCE1
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-41	10.1	ARID1B CAPN12 CAPN15
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	10.1	CAPN12
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-45	10.1	CAPN15
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	10.1	CAPN12
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	10.1	SRP9
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-56	10.1	CAPN15
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	10.1	CAPN12
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	10.1	CAPN15
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	10.1	ARID1B
38	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	10.1	CAPN12
39	Increased shRNA abundance (Z-score > 2)	GR00366-A-83	10.1	CAPN15 CRYBB1 SMARCB1
40	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	10.1	CAPN12 SMARCB1
41	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	10.1	SMARCE1
42	Increased Nanog expression	GR00371-A-1	9.93	DPF2 SMARCE1 ARID1A SMARCA4 SMARCB1
43	Increased Nanog expression	GR00371-A-2	9.93	ARID2 DPF2 SMARCE1 SOX11
44	Increased Nanog expression	GR00371-A-3	9.93	ARID2 DPF2 ARID1A
45	Increased Nanog expression	GR00371-A-4	9.93	SOX11
46	Increased Nanog expression	GR00371-A-5	9.93	ARID1A

Sources

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

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Genetic Tests for Coffin-Siris Syndrome 1

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

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

⁴²

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

Sources

Publications for Coffin-Siris Syndrome 1

Articles related to Coffin-Siris Syndrome 1:

(show top 50) (show all 81)

#	Title	Authors	Year
1	Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation. ( 30581937 )	Tchanque-Fossuo CN...Isseroff RR	2019
2	Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ( 30696996 )	van der Sluijs PJ...Santen GWE	2019
3	Raised intra-ocular pressure in the setting of Coffin-Siris syndrome. ( 30914783 )	Dolaghan MJ...McLoone E	2019
4	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 )	Sweeney N.M....Kingsmore S.F.	2018
5	Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report. ( 30499906 )	Lin B...Upadhyaya SA	2018
6	Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. ( 28787104 )	Okamoto N...Matsumoto N	2018
7	Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. ( 29429572 )	Vasileiou G...Reis A	2018
8	Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome. ( 29504208 )	Natsume T...Kosho T	2018
9	A 69-year-old woman with Coffin-Siris syndrome. ( 30055038 )	M??tt?nen L...Arvio M	2018
10	First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. ( 30276971 )	Mannino EA...Schrier Vergano SA	2018
11	The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ( 30349098 )	van der Sluijs PJ...Santen GWE	2018
12	Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. ( 28124119 )	Bramswig N.C....Wieczorek D.	2017
13	SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. ( 28608987 )	Errichiello E....Zuffardi O.	2017
14	Successful difficult airway management of a child with Coffin-siris syndrome. ( 28781848 )	Ozkan AS...Koylu Z	2017
15	Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. ( 27672547 )	Sonmez F.M....Gunduz E.	2016
16	Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. ( 27264538 )	Miyake N....Matsumoto N.	2016
17	SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. ( 27264197 )	Zarate Y.A....Schrier Vergano S.A.	2016
18	Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. ( 26543203 )	Hempel A....McNeill A.	2015
19	Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. ( 25099957 )	Zweier C....Wieczorek D.	2014
20	De novo SOX11 mutations cause Coffin-Siris syndrome. ( 24886874 )	Tsurusaki Y....Matsumoto N.	2014
21	Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. ( 25169878 )	Kosho T....Carey J.C.	2014
22	Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. ( 24569609 )	Vals M.A....Ounap K.	2014
23	Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. ( 24700502 )	Tzeng M....Boerkoel C.F.	2014
24	Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. ( 25168959 )	Kosho T....Okamoto N.	2014
25	Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. ( 25169447 )	Vergano S.S....Deardorff M.A.	2014
26	Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. ( 25298701 )	Nemani L....Kapur P.	2014
27	DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ( 25169651 )	Campeau P.M....Hennekam R.C.	2014
28	Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. ( 23929686 )	Santen G.W....van Belzen M.J.	2013
29	Coffin-Siris syndrome is a SWI/SNF complex disorder. ( 23815551 )	Tsurusaki Y....Matsumoto N.	2013
30	Correction: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome. ( 24039678 )	Zhu J....Chehab F.F.	2013
31	The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. ( 22711679 )	Schrier S.A....Deardorff M.A.	2012
32	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 )	Zhu J....Chehab F.F.	2012
33	Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. ( 22426309 )	Santen G.W....Kriek M.	2012
34	Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation. ( 21452752 )	Bender H.A....Luciano D.	2011
35	Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. ( 20624500 )	Coulibaly B....Fernandez C.	2010
36	Coffin-Siris syndrome with Mayer-Rokitansky-KA1ster-Hauser syndrome: a case report. ( 21059198 )	Goyal D....Sethi S.K.	2010
37	Is this the Coffin-Siris syndrome or the BOD syndrome? ( 19215055 )	Brautbar A....Shinawi M.	2009
38	Neuroblastoma in a patient with Coffin-Siris syndrome. ( 19842870 )	Pollono D....Pollono A.	2009
39	Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. ( 18203175 )	Baban A....de Toni T.	2008
40	Upper gastrointestinal malformations in Coffin-Siris syndrome. ( 17523151 )	Kellermayer R....Klish W.	2007
41	Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney. ( 16830329 )	Al Mosawi A.J.	2006
42	Autosomal dominant syndrome resembling Coffin-Siris syndrome. ( 16691594 )	Flynn M.A....Milunsky J.M.	2006
43	Anesthetic management in a child with Coffin-Siris syndrome. ( 15283836 )	Silvani P....Salvo I.	2004
44	Premature thelarche in Coffin-Siris syndrome. ( 12910500 )	Brunetti-Pierri N....Salerno M.	2003
45	Dandy-Walker variant in Coffin-Siris syndrome. ( 11298377 )	Imai T....Nakahata T.	2001
46	Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. ( 11170086 )	Fleck B.J....Bodurtha J.	2001
47	Difficult airway in a patient with Coffin-Siris syndrome. ( 11159267 )	Dimaculangan D....Gross R.	2001
48	Candidate region for Coffin-Siris syndrome at 7q32--&gt;34. ( 10925390 )	McGhee E.M....Lammer E.J.	2000
49	New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. ( 10649791 )	Elliott A.M....Teebi A.S.	2000
50	Diaphragmatic hernia in the Coffin-Siris syndrome. ( 9555587 )	Delvaux V....Fryns J.P.	1998

Sources

Genes for Coffin-Siris Syndrome 1

Genes related to Coffin-Siris Syndrome 1 (8 elite genes):

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	1387.8	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22405089 23556151 22426308 (more) 22426309
2	DPF2	Double PHD Fingers 2	Protein Coding	762.94	Pathogenic ⁶ Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	23556151
3	ARID2	AT-Rich Interaction Domain 2	Protein Coding	371.52	Causative germline mutation (loss of function) ⁶⁰ DISEASES inferred ¹⁵ ¹⁵
4	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	358.01	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
5	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	357.24	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
6	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	356.61	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
7	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	356.37	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
8	SOX11	SRY-Box 11	Protein Coding	356.22	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
9	CHSY1	Chondroitin Sulfate Synthase 1	Protein Coding	24.14	DISEASES inferred ¹⁵ ¹⁵
10	CRYBB1	Crystallin Beta B1	Protein Coding	20.84	DISEASES inferred ¹⁵ ¹⁵
11	NLRP7	NLR Family Pyrin Domain Containing 7	Protein Coding	19.11	DISEASES inferred ¹⁵ ¹⁵
12	CAPN12	Calpain 12	Protein Coding	18.98	DISEASES inferred ¹⁵ ¹⁵
13	CAPN13	Calpain 13	Protein Coding	18.98	DISEASES inferred ¹⁵ ¹⁵
14	CAPN15	Calpain 15	Protein Coding	18.96	DISEASES inferred ¹⁵ ¹⁵
15	CAPNS2	Calpain Small Subunit 2	Protein Coding	15.03	DISEASES inferred ¹⁵ ¹⁵
16	CHPF	Chondroitin Polymerizing Factor	Protein Coding	13.74	DISEASES inferred ¹⁵ ¹⁵
17	CHSY3	Chondroitin Sulfate Synthase 3	Protein Coding	13.23	DISEASES inferred ¹⁵ ¹⁵
18	SRP9	Signal Recognition Particle 9	Protein Coding	11.54	DISEASES inferred ¹⁵ ¹⁵
19	TMEM63C	Transmembrane Protein 63C	Protein Coding	11.38	DISEASES inferred ¹⁵ ¹⁵
20	SMPD2	Sphingomyelin Phosphodiesterase 2	Protein Coding	10.93	DISEASES inferred ¹⁵ ¹⁵
21	MSRB2	Methionine Sulfoxide Reductase B2	Protein Coding	10.88	DISEASES inferred ¹⁵ ¹⁵
22	CMAS	Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase	Protein Coding	10.41	DISEASES inferred ¹⁵ ¹⁵
23	CKS2	CDC28 Protein Kinase Regulatory Subunit 2	Protein Coding	9.74	DISEASES inferred ¹⁵ ¹⁵
24	CAPN11	Calpain 11	Protein Coding	8.99	DISEASES inferred ¹⁵ ¹⁵
25	ADGB	Androglobin	Protein Coding	8.96	DISEASES inferred ¹⁵ ¹⁵
26	CAPN7	Calpain 7	Protein Coding	8.92	DISEASES inferred ¹⁵ ¹⁵
27	CAPN6	Calpain 6	Protein Coding	8.91	DISEASES inferred ¹⁵ ¹⁵
28	CAPN14	Calpain 14	Protein Coding	8.87	DISEASES inferred ¹⁵ ¹⁵
29	CAPN8	Calpain 8	Protein Coding	8.87	DISEASES inferred ¹⁵ ¹⁵
30	CAPN9	Calpain 9	Protein Coding	8.84	DISEASES inferred ¹⁵ ¹⁵

Sources

Variations for Coffin-Siris Syndrome 1

ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

⁶ (show top 50) (show all 327)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ARID1B	NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter)	single nucleotide variant	Pathogenic	rs753933273	GRCh38	Chromosome 6, 157084773: 157084773
2	ARID1B	NM_020732.3(ARID1B): c.2149C> T (p.Gln717Ter)	single nucleotide variant	Pathogenic	rs753933273	GRCh37	Chromosome 6, 157405907: 157405907
3	ARID1B	NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter)	single nucleotide variant	Pathogenic	rs797045272	GRCh37	Chromosome 6, 157406006: 157406006
4	ARID1B	NM_020732.3(ARID1B): c.2248C> T (p.Arg750Ter)	single nucleotide variant	Pathogenic	rs797045272	GRCh38	Chromosome 6, 157084872: 157084872
5	ARID1B	NM_020732.3(ARID1B): c.4110G> A (p.Pro1370=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797045277	GRCh37	Chromosome 6, 157520041: 157520041
6	ARID1B	NM_020732.3(ARID1B): c.4110G> A (p.Pro1370=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797045277	GRCh38	Chromosome 6, 157198907: 157198907
7	ARID1B	NM_020732.3(ARID1B): c.4336C> T (p.Gln1446Ter)	single nucleotide variant	Likely pathogenic	rs797045278	GRCh37	Chromosome 6, 157522064: 157522064
8	ARID1B	NM_020732.3(ARID1B): c.4336C> T (p.Gln1446Ter)	single nucleotide variant	Likely pathogenic	rs797045278	GRCh38	Chromosome 6, 157200930: 157200930
9	ARID1B	NM_020732.3(ARID1B): c.5056dup (p.Tyr1686Leufs)	duplication	Pathogenic	rs797045279	GRCh37	Chromosome 6, 157527331: 157527331
10	ARID1B	NM_020732.3(ARID1B): c.5056dup (p.Tyr1686Leufs)	duplication	Pathogenic	rs797045279	GRCh38	Chromosome 6, 157206197: 157206197
11	ARID1B	NM_020732.3(ARID1B): c.5151del (p.Lys1718Argfs)	deletion	Pathogenic	rs797045280	GRCh38	Chromosome 6, 157206292: 157206292
12	ARID1B	NM_020732.3(ARID1B): c.5151del (p.Lys1718Argfs)	deletion	Pathogenic	rs797045280	GRCh37	Chromosome 6, 157527426: 157527426
13	ARID1B	NM_020732.3(ARID1B): c.5153del (p.Lys1718Argfs)	deletion	Pathogenic	rs797045281	GRCh38	Chromosome 6, 157206294: 157206294
14	ARID1B	NM_020732.3(ARID1B): c.5153del (p.Lys1718Argfs)	deletion	Pathogenic	rs797045281	GRCh37	Chromosome 6, 157527428: 157527428
15	ARID1B	NM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter)	single nucleotide variant	Pathogenic	rs797045282	GRCh37	Chromosome 6, 157527679: 157527679
16	ARID1B	NM_020732.3(ARID1B): c.5404C> T (p.Arg1802Ter)	single nucleotide variant	Pathogenic	rs797045282	GRCh38	Chromosome 6, 157206545: 157206545
17	ARID1B	NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter)	single nucleotide variant	Pathogenic	rs797045283	GRCh38	Chromosome 6, 157207109: 157207109
18	ARID1B	NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter)	single nucleotide variant	Pathogenic	rs797045283	GRCh37	Chromosome 6, 157528243: 157528243
19	SMARCA4	NM_001128849.1(SMARCA4): c.120C> T (p.His40=)	single nucleotide variant	Benign/Likely benign	rs375884151	GRCh38	Chromosome 19, 10984271: 10984271
20	SMARCA4	NM_001128849.1(SMARCA4): c.120C> T (p.His40=)	single nucleotide variant	Benign/Likely benign	rs375884151	GRCh37	Chromosome 19, 11094947: 11094947
21	SMARCA4	NM_001128849.1(SMARCA4): c.223-5C> T	single nucleotide variant	Benign/Likely benign	rs376775933	GRCh37	Chromosome 19, 11095944: 11095944
22	SMARCA4	NM_001128849.1(SMARCA4): c.223-5C> T	single nucleotide variant	Benign/Likely benign	rs376775933	GRCh38	Chromosome 19, 10985268: 10985268
23	SMARCA4	NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=)	single nucleotide variant	Benign/Likely benign	rs547268941	GRCh37	Chromosome 19, 11098463: 11098463
24	SMARCA4	NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=)	single nucleotide variant	Benign/Likely benign	rs547268941	GRCh38	Chromosome 19, 10987787: 10987787
25	SMARCA4	NM_001128849.1(SMARCA4): c.1419+7T> C	single nucleotide variant	Benign/Likely benign	rs112977340	GRCh38	Chromosome 19, 10991330: 10991330
26	SMARCA4	NM_001128849.1(SMARCA4): c.1419+7T> C	single nucleotide variant	Benign/Likely benign	rs112977340	GRCh37	Chromosome 19, 11102006: 11102006
27	SMARCA4	NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141806282	GRCh38	Chromosome 19, 10996523: 10996523
28	SMARCA4	NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141806282	GRCh37	Chromosome 19, 11107199: 11107199
29	SMARCA4	NM_001128849.1(SMARCA4): c.2001+8T> G	single nucleotide variant	Benign/Likely benign	rs112549813	GRCh37	Chromosome 19, 11114081: 11114081
30	SMARCA4	NM_001128849.1(SMARCA4): c.2001+8T> G	single nucleotide variant	Benign/Likely benign	rs112549813	GRCh38	Chromosome 19, 11003405: 11003405
31	SMARCA4	NM_001128849.1(SMARCA4): c.2275-3C> A	single nucleotide variant	Benign/Likely benign	rs117611401	GRCh37	Chromosome 19, 11123622: 11123622
32	SMARCA4	NM_001128849.1(SMARCA4): c.2275-3C> A	single nucleotide variant	Benign/Likely benign	rs117611401	GRCh38	Chromosome 19, 11012946: 11012946
33	SMARCA4	NM_001128849.1(SMARCA4): c.2757C> T (p.Pro919=)	single nucleotide variant	Benign/Likely benign	rs113955216	GRCh38	Chromosome 19, 11021865: 11021865
34	SMARCA4	NM_001128849.1(SMARCA4): c.2757C> T (p.Pro919=)	single nucleotide variant	Benign/Likely benign	rs113955216	GRCh37	Chromosome 19, 11132541: 11132541
35	SMARCA4	NM_001128849.1(SMARCA4): c.3045C> T (p.Gly1015=)	single nucleotide variant	Benign/Likely benign	rs56101423	GRCh37	Chromosome 19, 11135078: 11135078
36	SMARCA4	NM_001128849.1(SMARCA4): c.3045C> T (p.Gly1015=)	single nucleotide variant	Benign/Likely benign	rs56101423	GRCh38	Chromosome 19, 11024402: 11024402
37	SMARCA4	NM_001128849.1(SMARCA4): c.3975C> T (p.Arg1325=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144803359	GRCh37	Chromosome 19, 11145613: 11145613
38	SMARCA4	NM_001128849.1(SMARCA4): c.3975C> T (p.Arg1325=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144803359	GRCh38	Chromosome 19, 11034937: 11034937
39	SMARCA4	NM_001128849.1(SMARCA4): c.4152G> A (p.Thr1384=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372620534	GRCh38	Chromosome 19, 11035114: 11035114
40	SMARCA4	NM_001128849.1(SMARCA4): c.4152G> A (p.Thr1384=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs372620534	GRCh37	Chromosome 19, 11145790: 11145790
41	SMARCA4	NM_001128849.1(SMARCA4): c.442G> A (p.Gly148Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138689221	GRCh38	Chromosome 19, 10986275: 10986275
42	SMARCA4	NM_001128849.1(SMARCA4): c.442G> A (p.Gly148Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138689221	GRCh37	Chromosome 19, 11096951: 11096951
43	SMARCA4	NM_001128849.1(SMARCA4): c.859+7T> A	single nucleotide variant	Benign/Likely benign	rs141461778	GRCh38	Chromosome 19, 10987010: 10987010
44	SMARCA4	NM_001128849.1(SMARCA4): c.859+7T> A	single nucleotide variant	Benign/Likely benign	rs141461778	GRCh37	Chromosome 19, 11097686: 11097686
45	SMARCA4	NM_001128849.1(SMARCA4): c.2388C> T (p.Leu796=)	single nucleotide variant	Benign	rs28997580	GRCh38	Chromosome 19, 11013062: 11013062
46	SMARCA4	NM_001128849.1(SMARCA4): c.2388C> T (p.Leu796=)	single nucleotide variant	Benign	rs28997580	GRCh37	Chromosome 19, 11123738: 11123738
47	SMARCA4	NM_001128849.1(SMARCA4): c.4011C> T (p.Leu1337=)	single nucleotide variant	Likely benign	rs377720149	GRCh38	Chromosome 19, 11034973: 11034973
48	SMARCA4	NM_001128849.1(SMARCA4): c.4011C> T (p.Leu1337=)	single nucleotide variant	Likely benign	rs377720149	GRCh37	Chromosome 19, 11145649: 11145649
49	SMARCA4	NM_001128849.1(SMARCA4): c.4368G> A (p.Pro1456=)	single nucleotide variant	Benign/Likely benign	rs114882905	GRCh38	Chromosome 19, 11041408: 11041408
50	SMARCA4	NM_001128849.1(SMARCA4): c.4368G> A (p.Pro1456=)	single nucleotide variant	Benign/Likely benign	rs114882905	GRCh37	Chromosome 19, 11152084: 11152084

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

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

Sources

Pathways for Coffin-Siris Syndrome 1

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 Chromatin modifying enzymes ⁶⁷ HATs acetylate histones ⁶⁷	12.58	ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
2	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	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 Chromatin Remodeling ⁶⁵ mitochondrial L-carnitine shuttle ¹	11.69	ARID1A SMARCA4 SMARCB1 SMARCE1
5	Transcription Ligand-dependent activation of the ESR1/SP pathway ²³ Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²³	10.87	ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1

Sources

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	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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁴ GeneHancer via GeneCards

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³¹ HGMD

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³⁴ ICD10

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⁴¹ LOVD

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⁴⁵ MeSH

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

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⁶² PharmGKB

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⁷² TGDB

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⁷⁴ UMLS

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Coffin-Siris Syndrome 1 (CSS1)

Aliases & Classifications for Coffin-Siris Syndrome 1

MalaCards integrated aliases for Coffin-Siris Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Coffin-Siris Syndrome 1

Related Diseases for Coffin-Siris Syndrome 1

Diseases in the Coffin-Siris Syndrome 1 family:

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

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

Symptoms & Phenotypes for Coffin-Siris Syndrome 1

Human phenotypes related to Coffin-Siris Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

Anatomical Context for Coffin-Siris Syndrome 1

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

Publications for Coffin-Siris Syndrome 1

Articles related to Coffin-Siris Syndrome 1:

Genes for Coffin-Siris Syndrome 1

Genes related to Coffin-Siris Syndrome 1 (8 elite genes):

Variations for Coffin-Siris Syndrome 1

ClinVar genetic disease variations for Coffin-Siris Syndrome 1:

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

Expression for Coffin-Siris Syndrome 1

Pathways for Coffin-Siris Syndrome 1

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

GO Terms for Coffin-Siris Syndrome 1

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

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

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

Sources for Coffin-Siris Syndrome 1