MCID: EPP011
MIFTS: 19

Epiphyseal Chondrodysplasia, Miura Type

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Epiphyseal Chondrodysplasia, Miura Type

MalaCards integrated aliases for Epiphyseal Chondrodysplasia, Miura Type:

Name: Epiphyseal Chondrodysplasia, Miura Type 53 71 28 69
Ecdm 53 71
Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome 55
Tall Stature-Scoliosis-Macrodactyly of the Halluces Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
tall stature-scoliosis-macrodactyly of the great toes syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
echocardiogram and ophthalmologic examination normal
mutation in npr2 results in gain-of-function


HPO:

31
epiphyseal chondrodysplasia, miura type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epiphyseal Chondrodysplasia, Miura Type

UniProtKB/Swiss-Prot : 71 Epiphyseal chondrodysplasia, Miura type: An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis.

MalaCards based summary : Epiphyseal Chondrodysplasia, Miura Type, is also known as ecdm, and has symptoms including osteopenia, scoliosis and arachnodactyly. An important gene associated with Epiphyseal Chondrodysplasia, Miura Type is NPR2 (Natriuretic Peptide Receptor 2). Affiliated tissues include bone.

Description from OMIM: 615923

Related Diseases for Epiphyseal Chondrodysplasia, Miura Type

Symptoms & Phenotypes for Epiphyseal Chondrodysplasia, Miura Type

Symptoms via clinical synopsis from OMIM:

53
Growth Height:
tall stature (+2 to +4 sd, present at birth)

Skeletal Spine:
scoliosis

Skeletal Hands:
arachnodactyly
long and slender fingers
5th finger clinodactyly

Laboratory Abnormalities:
increased osteocalcin
increased cross-linked c-terminal telopeptide of type i collagen
increased urinary cross-linked n-telopetide of type i collagen
increased bone-specific alkaline phosphatase

Skeletal:
osteopenia

Skeletal Pelvis:
coxa valga deformity with epiphyseal dysplasia

Skeletal Feet:
long halluces
broad great toes
long metatarsals


Clinical features from OMIM:

615923

Human phenotypes related to Epiphyseal Chondrodysplasia, Miura Type:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 scoliosis 31 HP:0002650
3 arachnodactyly 31 HP:0001166
4 tall stature 31 HP:0000098
5 long hallux 31 HP:0001847
6 broad hallux 31 HP:0010055

Drugs & Therapeutics for Epiphyseal Chondrodysplasia, Miura Type

Search Clinical Trials , NIH Clinical Center for Epiphyseal Chondrodysplasia, Miura Type

Genetic Tests for Epiphyseal Chondrodysplasia, Miura Type

Genetic tests related to Epiphyseal Chondrodysplasia, Miura Type:

# Genetic test Affiliating Genes
1 Epiphyseal Chondrodysplasia, Miura Type 28 NPR2

Anatomical Context for Epiphyseal Chondrodysplasia, Miura Type

MalaCards organs/tissues related to Epiphyseal Chondrodysplasia, Miura Type:

38
Bone

Publications for Epiphyseal Chondrodysplasia, Miura Type

Variations for Epiphyseal Chondrodysplasia, Miura Type

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Chondrodysplasia, Miura Type:

71
# Symbol AA change Variation ID SNP ID
1 NPR2 p.Ala488Pro VAR_071875 rs587777597
2 NPR2 p.Arg655Cys VAR_071876 rs587777596
3 NPR2 p.Val882Met VAR_071877

ClinVar genetic disease variations for Epiphyseal Chondrodysplasia, Miura Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPR2 NM_003995.3(NPR2): c.2647G> A (p.Val883Met) single nucleotide variant Pathogenic rs587777595 GRCh37 Chromosome 9, 35807330: 35807330
2 NPR2 NM_003995.3(NPR2): c.1963C> T (p.Arg655Cys) single nucleotide variant Pathogenic rs587777596 GRCh37 Chromosome 9, 35805583: 35805583
3 NPR2 NM_003995.3(NPR2): c.1462G> C (p.Ala488Pro) single nucleotide variant Pathogenic rs587777597 GRCh37 Chromosome 9, 35801665: 35801665

Expression for Epiphyseal Chondrodysplasia, Miura Type

Search GEO for disease gene expression data for Epiphyseal Chondrodysplasia, Miura Type.

Pathways for Epiphyseal Chondrodysplasia, Miura Type

GO Terms for Epiphyseal Chondrodysplasia, Miura Type

Sources for Epiphyseal Chondrodysplasia, Miura Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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