Details of Disease

General Information of Disease (ID: DISSOGO0)

Disease Name Tall stature-scoliosis-macrodactyly of the great toes syndrome
Synonyms epiphyseal chondrodysplasia, MIURA type; Miura type epiphyseal chondrodysplasia; ECDM; tall stature-scoliosis-macrodactyly of the halluces syndrome
Definition
Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS5Z8U6: Skeletal dysplasia
DISSOGO0: Tall stature-scoliosis-macrodactyly of the great toes syndrome
Disease Identifiers
MONDO ID
MONDO_0014401
UMLS CUI
C4014690
OMIM ID
615923
MedGen ID
863127
Orphanet ID
329191

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NPR2 TTNB7IF Limited Genetic Variation [1]
NPR2 TTNB7IF Strong Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NPR2 OT4651SI Strong Autosomal dominant [2]
SPAG8 OTZC5XP9 Strong Genetic Variation [3]
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References

1 CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B.Hum Mol Genet. 2019 Apr 1;28(7):1183-1198. doi: 10.1093/hmg/ddy428.
2 An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene. PLoS One. 2012;7(8):e42180. doi: 10.1371/journal.pone.0042180. Epub 2012 Aug 3.
3 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004 Jul;75(1):27-34. doi: 10.1086/422013. Epub 2004 May 14.