Multicentric carpo-tarsal osteolysis with or without nephropathy

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000093 Proteinuria Very frequent (99-80%)
HP:0000325 Triangular face Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0001225 Wrist swelling Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0001495 Carpal osteolysis Very frequent (99-80%)
HP:0001504 Metacarpal osteolysis Very frequent (99-80%)
HP:0002797 Osteolysis Very frequent (99-80%)
HP:0003019 Abnormality of the wrist Very frequent (99-80%)
HP:0003100 Slender long bone Very frequent (99-80%)
HP:0003457 EMG abnormality Very frequent (99-80%)
HP:0004326 Cachexia Very frequent (99-80%)
HP:0000112 Nephropathy Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000431 Wide nasal bridge Occasional (29-5%)
HP:0000506 Telecanthus Occasional (29-5%)
HP:0001561 Polyhydramnios Occasional (29-5%)
HP:0002714 Downturned corners of mouth Occasional (29-5%)
HP:0005930 Abnormality of epiphysis morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MAFB MAF bZIP transcription factor B 9935