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Disease Profile
Multicentric carpotarsal osteolysis syndrome
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.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
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 |
0000006 | ||
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
- Multicentric carpotarsal osteolysis syndrome. OMIM. 2016; https://omim.org/entry/166300.
- Multicentric carpo-tarsal osteolysis with or without nephropathy. Orphanet. 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774.
- 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/.
- 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.