MCID: EPP011
MIFTS: 20

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 57 75 29 6 73
Ecdm 57 75
Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome 59
Tall Stature-Scoliosis-Macrodactyly of the Halluces Syndrome 59
Chondrodysplasia, Epiphyseal, Miura Type 40

Characteristics:

Orphanet epidemiological data:

59
tall stature-scoliosis-macrodactyly of the great toes syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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 : 75 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, also known as ecdm, is related to acromesomelic dysplasia, maroteaux type. An important gene associated with Epiphyseal Chondrodysplasia, Miura Type is NPR2 (Natriuretic Peptide Receptor 2). Affiliated tissues include bone, and related phenotypes are tall stature and osteopenia

Description from OMIM: 615923

Related Diseases for Epiphyseal Chondrodysplasia, Miura Type

Diseases related to Epiphyseal Chondrodysplasia, Miura Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia, maroteaux type 9.0 NPR2 SPAG8

Symptoms & Phenotypes for Epiphyseal Chondrodysplasia, Miura Type

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 tall stature 32 HP:0000098
2 osteopenia 32 HP:0000938
3 arachnodactyly 32 HP:0001166
4 long hallux 32 HP:0001847
5 scoliosis 32 HP:0002650
6 broad hallux 32 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 29 NPR2

Anatomical Context for Epiphyseal Chondrodysplasia, Miura Type

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

41
Bone

Publications for Epiphyseal Chondrodysplasia, Miura Type

Variations for Epiphyseal Chondrodysplasia, Miura Type

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

75
# 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
(show all 20)
# 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.2647G> A (p.Val883Met) single nucleotide variant Pathogenic rs587777595 GRCh38 Chromosome 9, 35807333: 35807333
3 NPR2 NM_003995.3(NPR2): c.1963C> T (p.Arg655Cys) single nucleotide variant Pathogenic rs587777596 GRCh37 Chromosome 9, 35805583: 35805583
4 NPR2 NM_003995.3(NPR2): c.1963C> T (p.Arg655Cys) single nucleotide variant Pathogenic rs587777596 GRCh38 Chromosome 9, 35805586: 35805586
5 NPR2 NM_003995.3(NPR2): c.1462G> C (p.Ala488Pro) single nucleotide variant Pathogenic rs587777597 GRCh37 Chromosome 9, 35801665: 35801665
6 NPR2 NM_003995.3(NPR2): c.1462G> C (p.Ala488Pro) single nucleotide variant Pathogenic rs587777597 GRCh38 Chromosome 9, 35801668: 35801668
7 NPR2 NM_003995.3(NPR2): c.3034C> T (p.Leu1012=) single nucleotide variant Likely benign rs772856710 GRCh38 Chromosome 9, 35809203: 35809203
8 NPR2 NM_003995.3(NPR2): c.3034C> T (p.Leu1012=) single nucleotide variant Likely benign rs772856710 GRCh37 Chromosome 9, 35809200: 35809200
9 NPR2 NM_003995.3(NPR2): c.987+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 35799729: 35799729
10 NPR2 NM_003995.3(NPR2): c.987+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 35799732: 35799732
11 NPR2 NM_003995.3(NPR2): c.668-4C> A single nucleotide variant Benign rs61758517 GRCh38 Chromosome 9, 35793894: 35793894
12 NPR2 NM_003995.3(NPR2): c.668-4C> A single nucleotide variant Benign rs61758517 GRCh37 Chromosome 9, 35793891: 35793891
13 NPR2 NM_003995.3(NPR2): c.477C> T (p.His159=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 35792882: 35792882
14 NPR2 NM_003995.3(NPR2): c.477C> T (p.His159=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 35792885: 35792885
15 NPR2 NM_003995.3(NPR2): c.701A> G (p.His234Arg) single nucleotide variant Uncertain significance rs770808236 GRCh37 Chromosome 9, 35793928: 35793928
16 NPR2 NM_003995.3(NPR2): c.701A> G (p.His234Arg) single nucleotide variant Uncertain significance rs770808236 GRCh38 Chromosome 9, 35793931: 35793931
17 NPR2 NM_003995.3(NPR2): c.2644G> A (p.Val882Ile) single nucleotide variant Uncertain significance rs55700371 GRCh37 Chromosome 9, 35807327: 35807327
18 NPR2 NM_003995.3(NPR2): c.2644G> A (p.Val882Ile) single nucleotide variant Uncertain significance rs55700371 GRCh38 Chromosome 9, 35807330: 35807330
19 NPR2 NM_003995.3(NPR2): c.90G> A (p.Val30=) single nucleotide variant Likely benign rs56036598 GRCh37 Chromosome 9, 35792495: 35792495
20 NPR2 NM_003995.3(NPR2): c.90G> A (p.Val30=) single nucleotide variant Likely benign rs56036598 GRCh38 Chromosome 9, 35792498: 35792498

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

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74 UMLS via Orphanet
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