MCID: EPP011
MIFTS: 18

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 54 71 29 69
Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome 56
Tall Stature-Scoliosis-Macrodactyly of the Halluces Syndrome 56
Ecdm 71

Characteristics:

Orphanet epidemiological data:

56
tall stature-scoliosis-macrodactyly of the great toes syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
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 tall stature-scoliosis-macrodactyly of the great toes syndrome, and has symptoms including scoliosis, osteopenia and broad hallux. 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:

54

Skeletal- Spine:
scoliosis

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

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

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- Feet:
broad great toes
long halluces
long metatarsals

Skeletal- Pelvis:
coxa valga deformity with epiphyseal dysplasia


Clinical features from OMIM:

615923

Human phenotypes related to Epiphyseal Chondrodysplasia, Miura Type:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 osteopenia 32 HP:0000938
3 broad hallux 32 HP:0010055
4 tall stature 32 HP:0000098
5 arachnodactyly 32 HP:0001166
6 long hallux 32 HP:0001847

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:

id Genetic test Affiliating Genes
1 Epiphyseal Chondrodysplasia, Miura Type 29

Anatomical Context for Epiphyseal Chondrodysplasia, Miura Type

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

39
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
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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