Coffin-Siris Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Mental diseases
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Coffin-Siris Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,late childhood
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases, Mental diseases
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
OMIM:50 Coffin-Siris syndrome has been described as mental retardation associated with coarse facial features, hypertrichosis,... (135900) more...
MalaCards based summary: Coffin-Siris Syndrome, also known as fifth digit syndrome, is related to short stature, onychodysplasia, facial dysmorphism, and hypotrichosis and mental retardation, autosomal dominant 12, and has symptoms including abnormality of the teeth, thick lower lip vermilion and microcephaly. An important gene associated with Coffin-Siris Syndrome is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways are TNF-alpha/NF-kB Signaling Pathway and Prostate Cancer. Affiliated tissues include kidney, bone and uterus, and related mouse phenotype skeleton.
Disease Ontology:11 A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability.
Genetics Home Reference:24 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:46 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. last updated: 1/5/2016
UniProtKB/Swiss-Prot:68 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.
GeneReviews summary for NBK131811
Symptoms by clinical synopsis from OMIM:135900
Clinical features from OMIM:135900
Symptoms:52 (show all 58)
HPO human phenotypes related to Coffin-Siris Syndrome:(show all 118)
UMLS symptoms related to Coffin-Siris Syndrome:seizures, joint laxity
MalaCards organs/tissues related to Coffin-Siris Syndrome:34
Kidney, Bone, Uterus, Heart, Skin, Cerebellum, Pituitary
Articles related to Coffin-Siris Syndrome:(show top 50) (show all 66)
Clinvar genetic disease variations for Coffin-Siris Syndrome:5 (show all 11)
Copy number variations for Coffin-Siris Syndrome from CNVD:6
Search GEO for disease gene expression data for Coffin-Siris Syndrome.
Pathways related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Coffin-Siris Syndrome according to GeneCards Suite gene sharing:(show all 9)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet