Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Cranioosteoarthropathy:
Orphanet epidemiological data:51
currarino idiopathic osteoarthropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
OMIM:49 Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy,... (259100) more...
MalaCards based summary: Cranioosteoarthropathy, also known as touraine-solente-gole syndrome, is related to succinyl coa:3-oxoacid coa transferase deficiency and 3-methylcrotonyl-coa carboxylase deficiency, and has symptoms including abnormal cortical bone morphology, abnormality of the fontanelles or cranial sutures and clubbing of toes. An important gene associated with Cranioosteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)). Affiliated tissues include heart, bone and skin.
UniProtKB/Swiss-Prot:67 Cranioosteoarthropathy: A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. Hypertrophic osteoarthropathy, primary, autosomal recessive, 1: A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease.
Symptoms by clinical synopsis from OMIM:259100
Clinical features from OMIM:259100
Symptoms:51 (show all 16)
HPO human phenotypes related to Cranioosteoarthropathy:(show all 33)
MalaCards organs/tissues related to Cranioosteoarthropathy:33
Heart, Bone, Skin, Endothelial
Articles related to Cranioosteoarthropathy:
UniProtKB/Swiss-Prot genetic disease variations for Cranioosteoarthropathy:67
Clinvar genetic disease variations for Cranioosteoarthropathy:5
Search GEO for disease gene expression data for Cranioosteoarthropathy.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet