CSS1
MCID: CFF008
MIFTS: 64
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Coffin-Siris Syndrome 1 (CSS1)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Coffin-Siris Syndrome 1:
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 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
highly variable phenotype HPO:31GeneReviews: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 Eye diseases Smell/Taste diseases
ICD10:
33
Orphanet: 58
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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 kidney, bone and cerebellum, 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 05-Mar-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 : 73 Coffin-Siris syndrome 1: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. Wikipedia : 74 Coffin-Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth... more...
GeneReviews:
NBK131811
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Human phenotypes related to Coffin-Siris Syndrome 1:58 31 (show top 50) (show all 112)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:135900 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Coffin-Siris Syndrome 1:46
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Cochrane evidence based reviews: coffin-siris syndrome |
MalaCards organs/tissues related to Coffin-Siris Syndrome 1:40
Kidney,
Bone,
Cerebellum,
Heart,
Uterus,
Brain,
Thyroid
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Articles related to Coffin-Siris Syndrome 1:(show top 50) (show all 218)
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ClinVar genetic disease variations for Coffin-Siris Syndrome 1:6 (show top 50) (show all 347)
Copy number variations for Coffin-Siris Syndrome 1 from CNVD:7
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Search
GEO
for disease gene expression data for Coffin-Siris Syndrome 1.
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Pathways related to Coffin-Siris Syndrome 1 according to KEGG:36
Pathways related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:
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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:(show all 23)
Molecular functions related to Coffin-Siris Syndrome 1 according to GeneCards Suite gene sharing:(show all 12)
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