Multicentric carpotarsal osteolysis syndrome

Preferred Label : Multicentric carpotarsal osteolysis syndrome;

Symbol : MCTO;

CISMeF acronym : MCTO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multicentric osteolysis, autosomal dominant; Osteolysis, hereditary, of carpal bones with or without nephropathy;

Description : Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MAF bZIP transcription factor B gene (MAFB, 608968.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #166300;

Details

Origin ID

166300;

UMLS CUI

C2674705;

Currated CISMeF NLP mapping
- Multicentric Carpotarsal Osteolysis Syndrome [NCIt concept]
- Multicentric carpo-tarsal osteolysis with or without nephropathy [ORDO Disease]
- Multicentric carpotarsal osteolysis syndrome (disorder) [SNOMED CT concept]
- multicentric carpotarsal osteolysis syndrome [DO Concept]
- osteolysis, hereditary, of carpal bones with or without nephropathy [MeSH Supplementary Concept]
- osteolysis, hereditary, of carpal bones with or without nephropathy [MeSH concept]
DO Cross reference
- multicentric carpotarsal osteolysis syndrome [DO Concept]
Genes related to phenotype
- Maf bzip transcription factor b [OMIM gene]
HPO term(s)
- Ankle pain [HPO term]
- Ankle swelling [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral elbow dislocations [HPO term]
- Bilateral renal atrophy [HPO term]
- Carpal osteolysis [HPO term]
- Childhood onset [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Corneal opacity [HPO term]
- Hypertension [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Metacarpal osteolysis [HPO term]
- Metatarsal osteolysis [HPO term]
- Micrognathia [HPO term]
- Osteolysis involving tarsal bones [HPO term]
- Osteopenia [HPO term]
- Pes cavus [HPO term]
- Proptosis [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Triangular face [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
- Wrist pain [HPO term]
- Wrist swelling [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Multicentric carpo-tarsal osteolysis with or without nephropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multicentric Carpotarsal Osteolysis Syndrome [NCIt concept]
- Multicentric carpo-tarsal osteolysis with or without nephropathy [ORDO Disease]
- Multicentric carpotarsal osteolysis syndrome (disorder) [SNOMED CT concept]
- multicentric carpotarsal osteolysis syndrome [DO Concept]
- osteolysis, hereditary, of carpal bones with or without nephropathy [MeSH Supplementary Concept]
- osteolysis, hereditary, of carpal bones with or without nephropathy [MeSH concept]

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