ECDM
MCID: EPP011
MIFTS: 35

Epiphyseal Chondrodysplasia, Miura Type (ECDM)

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

Aliases & Classifications for Epiphyseal Chondrodysplasia, Miura Type

MalaCards integrated aliases for Epiphyseal Chondrodysplasia, Miura Type:

Name: Epiphyseal Chondrodysplasia, Miura Type 58 76 30 6 74
Ecdm 58 12 76
Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome 12 60
Tall Stature-Scoliosis-Macrodactyly of the Halluces Syndrome 12 60
Miura Type Epiphyseal Chondrodysplasia 12 15
Chondrodysplasia, Epiphyseal, Miura Type 41

Characteristics:

Orphanet epidemiological data:

60
tall stature-scoliosis-macrodactyly of the great toes syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epiphyseal chondrodysplasia, miura type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070316
OMIM 58 615923
Orphanet 60 ORPHA329191
UMLS 74 C4014690

Summaries for Epiphyseal Chondrodysplasia, Miura Type

UniProtKB/Swiss-Prot : 76 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 and short-rib thoracic dysplasia 5 with or without polydactyly. An important gene associated with Epiphyseal Chondrodysplasia, Miura Type is NPR2 (Natriuretic Peptide Receptor 2), and among its related pathways/superpathways are Vascular smooth muscle contraction and Visual Cycle in Retinal Rods. Affiliated tissues include bone and pons, and related phenotypes are osteopenia and scoliosis

Disease Ontology : 12 A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has material basis in heterozygous mutation in the NPR2 gene on chromosome 9p13.

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 9.9 NPPC NPR2
2 short-rib thoracic dysplasia 5 with or without polydactyly 9.7 NPPC NPR2
3 acromesomelic dysplasia, maroteaux type 9.6 NPPC NPR2 SPAG8

Symptoms & Phenotypes for Epiphyseal Chondrodysplasia, Miura Type

Human phenotypes related to Epiphyseal Chondrodysplasia, Miura Type:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 scoliosis 33 HP:0002650
3 arachnodactyly 33 HP:0001166
4 tall stature 33 HP:0000098
5 finger clinodactyly 33 HP:0040019
6 long hallux 33 HP:0001847
7 broad hallux 33 HP:0010055

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia

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 Spine:
scoliosis

Skeletal Feet:
broad great toes
long halluces
long metatarsals

Skeletal Pelvis:
coxa valga deformity with epiphyseal dysplasia

Clinical features from OMIM:

615923

MGI Mouse Phenotypes related to Epiphyseal Chondrodysplasia, Miura Type:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.02 CCND1 CREB1 NPPC NPR2 TIA1

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 30 NPR2

Anatomical Context for Epiphyseal Chondrodysplasia, Miura Type

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

42
Bone, Pons

Publications for Epiphyseal Chondrodysplasia, Miura Type

Articles related to Epiphyseal Chondrodysplasia, Miura Type:

# Title Authors Year
1
Performance investigation and demonstration of colorless upstream transmission in ECDM-OFDM-PON. ( 21934818 )
2011
2
A novel ECDM-OFDM-PON architecture for next-generation optical access network. ( 20721227 )
2010

Variations for Epiphyseal Chondrodysplasia, Miura Type

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

76
# 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 24)
# 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 rs1554672893 GRCh37 Chromosome 9, 35799729: 35799729
10 NPR2 NM_003995.3(NPR2): c.987+1G> C single nucleotide variant Likely pathogenic rs1554672893 GRCh38 Chromosome 9, 35799732: 35799732
11 NPR2 NM_003995.3(NPR2): c.668-4C> A single nucleotide variant Benign rs61758517 GRCh37 Chromosome 9, 35793891: 35793891
12 NPR2 NM_003995.3(NPR2): c.668-4C> A single nucleotide variant Benign rs61758517 GRCh38 Chromosome 9, 35793894: 35793894
13 NPR2 NM_003995.3(NPR2): c.477C> T (p.His159=) single nucleotide variant Likely benign rs1554671925 GRCh37 Chromosome 9, 35792882: 35792882
14 NPR2 NM_003995.3(NPR2): c.477C> T (p.His159=) single nucleotide variant Likely benign rs1554671925 GRCh38 Chromosome 9, 35792885: 35792885
15 NPR2 NM_003995.3(NPR2): c.701A> G (p.His234Arg) single nucleotide variant Uncertain significance rs770808236 GRCh38 Chromosome 9, 35793931: 35793931
16 NPR2 NM_003995.3(NPR2): c.701A> G (p.His234Arg) single nucleotide variant Uncertain significance rs770808236 GRCh37 Chromosome 9, 35793928: 35793928
17 NPR2 NM_003995.3(NPR2): c.2644G> A (p.Val882Ile) single nucleotide variant Uncertain significance rs55700371 GRCh38 Chromosome 9, 35807330: 35807330
18 NPR2 NM_003995.3(NPR2): c.2644G> A (p.Val882Ile) single nucleotide variant Uncertain significance rs55700371 GRCh37 Chromosome 9, 35807327: 35807327
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
21 NPR2 NM_003995.3(NPR2): c.1313C> A (p.Pro438His) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 35800800: 35800800
22 NPR2 NM_003995.3(NPR2): c.1313C> A (p.Pro438His) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 35800803: 35800803
23 NPR2 NM_003995.3(NPR2): c.2713-2A> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 35808504: 35808504
24 NPR2 NM_003995.3(NPR2): c.2713-2A> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 35808507: 35808507

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

Biological processes related to Epiphyseal Chondrodysplasia, Miura Type according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.7 CCND1 CREB1 NPR2
2 response to drug GO:0042493 9.61 CCND1 CREB1 NPPC
3 response to ethanol GO:0045471 9.54 CCND1 NPPC
4 response to organic substance GO:0010033 9.51 CCND1 CREB1
5 ossification GO:0001503 9.49 NPPC NPR2
6 lactation GO:0007595 9.48 CCND1 CREB1
7 regulation of cardiac conduction GO:1903779 9.46 NPPC NPR2
8 cGMP-mediated signaling GO:0019934 9.4 NPPC NPR2
9 cGMP biosynthetic process GO:0006182 9.37 NPPC NPR2
10 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 NPPC NPR2
11 reproductive process GO:0022414 9.26 NPPC NPR2
12 positive regulation of cGMP-mediated signaling GO:0010753 9.16 NPPC NPR2
13 negative regulation of meiotic cell cycle GO:0051447 8.96 NPPC NPR2
14 negative regulation of oocyte maturation GO:1900194 8.62 NPPC NPR2

Sources for Epiphyseal Chondrodysplasia, Miura Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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