Multicentric carpo-tarsal osteolysis with or without nephropathy

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY
MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT
MCTO
Idiopathic multicentric osteolysis with or without nephropathy
Number of Symptoms 37
OrphanetNr: 2774
OMIM Id: 166300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary osteolysis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
6
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
7
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
8
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
9
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
10
 (HPO:0002714) Downturned corners of mouth Occasional [Orphanet] 98 / 7739
11
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
12
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
13
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
14
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
15
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
16
 (HPO:0003100) Slender long bone Very frequent [Orphanet] 45 / 7739
17
 (HPO:0006234) Osteolysis involving tarsal bones 3 / 7739
18
 (HPO:0001473) Metatarsal osteolysis 2 / 7739
19
 (HPO:0001504) Metacarpal osteolysis 3 / 7739
20
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
21
 (HPO:0002829) Arthralgia 79 / 7739
22
 (HPO:0000938) Osteopenia 138 / 7739
23
 (HPO:0001495) Carpal osteolysis 3 / 7739
24
 (HPO:0001225) Wrist swelling 2 / 7739
25
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
26
 (HPO:0001785) Ankle swelling 3 / 7739
27
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
28
 (HPO:0001761) Pes cavus 225 / 7739
29
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
30
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
31
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
32
 (HPO:0000822) Hypertension 224 / 7739
33
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
34
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
35
 (OMIM) Ankle arthralgia 1 / 7739
36
 (OMIM) Wrist arthralgia 1 / 7739
37
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Shurtleff et al. (1964) observed a family in which 11 persons in 3 generations had osteolysis of the carpal bones with nephropathy. Osteolysis of the carpal bones led to disappearance of these bones in older subjects. Deformity of ...
Molecular genetics OMIM In 5 probands with multicentric carpotarsal osteolysis, Zankl et al. (2012) performed whole-exome sequencing followed by quality filtering and identified heterozygosity for missense mutations in the MAFB gene (see, e.g., 608968.0001-608968.0003 and 608968.0005) in all 5 patients. Analysis ...