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Disease Profile

Multicentric carpotarsal osteolysis syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Multicentric carpo-tarsal osteolysis with or without nephropathy; Idiopathic multicentric osteolysis with or without nephropathy

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases

Summary

Multicentric carpotarsal osteolysis syndrome is a very rare condition characterized by progressive loss of some of the bones of the hand and feet, usually the carpal (bones of the wrist) and tarsal bones (bones of the ankle), as well as chronic kidney (renal) failure in many cases. The bone problems lead to deformity and disability. Some patients also have intellectual disability and facial abnormalities.[1][2] It is caused by mutations in the MAFB gene.[2] Autosomal dominant inheritance has been described in many families but most cases are sporadic.[3] Treatment is with long-term immunosuppressive therapy.[4]

 

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cachexia
Wasting syndrome
0004326
Carpal osteolysis
0001495
EMG abnormality
0003457
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Metacarpal osteolysis
0001504
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Slender long bone
Long bones slender
Thin long bones

[ more ]

0003100
Triangular face
Face with broad temples and narrow chin
Triangular facial shape

[ more ]

0000325
Wrist swelling
0001225
30%-79% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Nephropathy
0000112
5%-29% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Polyhydramnios
High levels of amniotic fluid
0001561
Telecanthus
Corners of eye widely separated
0000506
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
Percent of people who have these symptoms is not available through HPO
Ankle swelling
0001785
Arthralgia
Joint pain
0002829
Autosomal dominant inheritance
0000006
Hypertension
0000822
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion

[ more ]

0000327
Metatarsal osteolysis
0001473
Osteolysis involving tarsal bones
0006234
Osteopenia
0000938
Pes cavus
High-arched foot
0001761
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Ulnar deviation of the hand
0009487
Ulnar deviation of the hand or of fingers of the hand
0001193

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Multicentric carpotarsal osteolysis syndrome. OMIM. 2016; https://omim.org/entry/166300.
  2. Multicentric carpo-tarsal osteolysis with or without nephropathy. Orphanet. 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774.
  3. Mumms S. Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. Am J Med Genet A. September, 2014; 164A(9):2287-93. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505615/.
  4. Dolgikh VV, Pogodina AV, Knyazeva TS, Rychkova LV & Lutsenko LA. [Multicentric carpotarsal osteolysis in a rheumatologist's practice]. Ter Arkh. 2015; 87(3):88-91. https://www.ncbi.nlm.nih.gov/pubmed/26027247.