Tarsal-Carpal Coalition Syndrome malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
49OMIM, 10Disease Ontology, 11diseasecard, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 45NIH Rare Diseases, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Tarsal-Carpal Coalition Syndrome:
Orphanet epidemiological data:51
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal
tarsal-carpal coalition syndrome:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
Genetics Home Reference:23 Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family.
MalaCards based summary: Tarsal-Carpal Coalition Syndrome, also known as tcc, is related to spastic paraplegia 11, autosomal recessive and spastic paraplegia 11, and has symptoms including abnormality of the ankles, short stature and tarsal synostosis. An important gene associated with Tarsal-Carpal Coalition Syndrome is NOG (Noggin), and among its related pathways is Cardiac Progenitor Differentiation. Affiliated tissues include bone.
Disease Ontology:10 An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
NIH Rare Diseases:45 Tarsal carpal coalition syndrome is a genetic condition characterized by fusion of the bones in the wrist (carpals), feet (tarsals), and the fingers and toes (phalanges). other bone abnormalities in the hands and feet may be present. approximately 10 affected families have been described. tarsal carpal coalition syndrome is caused by mutations in the nod gene, and it is inherited in an autosomal dominant pattern. last updated: 6/22/2009
UniProtKB/Swiss-Prot:67 Tarsal-carpal coalition syndrome: Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families.
Description from OMIM:49 186570
Symptoms by clinical synopsis from OMIM:186570
Clinical features from OMIM:186570
HPO human phenotypes related to Tarsal-Carpal Coalition Syndrome:(show all 15)
MalaCards organs/tissues related to Tarsal-Carpal Coalition Syndrome:33
Articles related to Tarsal-Carpal Coalition Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Tarsal-Carpal Coalition Syndrome:67
Clinvar genetic disease variations for Tarsal-Carpal Coalition Syndrome:5
Search GEO for disease gene expression data for Tarsal-Carpal Coalition Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet