Coffin-Siris Syndrome 1 (CSS1)

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Disease Ontology 12 DOID:0070042 DOID:1925 OMIM® 57 135900 OMIM Phenotypic Series 57 PS135900 PS156200 KEGG 36 H01403 MeSH 44 C536436 D000015 D008607 NCIt 50 C35321 SNOMED-CT 67 10007009

MESH via Orphanet 45 C536436 ICD10 via Orphanet 33 Q87.1 UMLS via Orphanet 71 C0265338 Orphanet 58 ORPHA1465 MedGen 41 C0265338 C3281201 SNOMED-CT via HPO 68 103276001 111266001 11934000 123983008 12479006 125617002 128306009 128602000 128613002 14447001 15188001 16507009 17190001 191736004 193570009 199612005 204043002 204508009 204878001 204888000 2099007 22033007 22066006 224958001 228156007 23610003 237836003 246545002 246635007 246800008 247053007 247578003 248004009 248409006 248942000 249321001 249327002 249729002 253053003 253140003 253251006 253255002 253366007 253549006 253789002 263681008 271611007 27272007 27911000 298203008 298724002 299236004 29980002 30288003 311897005 313307000 32659003 343087000 35327006 367474008 396232000 396347007 397540003 397825006 398151007 398152000 400210000 40159009 405752007 414564002 417558002 422775003 43064006 44593008 48641006 49723003 50219008 51406002 51868009 563001 5639000 57190000 61372001 62221000119105 63567004 64217002 699439001 70142008 76916001 7973008 82649003 83330001 84757009 86299006 87979003 91138005 91175000 95515009 95828007 9634000 more UMLS 70 C0265338 C3281201

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

Clinical features from OMIM®:

135900 (Updated 20-May-2021)

#	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

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

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