ECDM
MCID: EPP011
MIFTS: 36

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 57 72 29 6 70
Ecdm 57 12 72
Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome 12 58
Tall Stature-Scoliosis-Macrodactyly of the Halluces Syndrome 12 58
Miura Type Epiphyseal Chondrodysplasia 12 15
Chondrodysplasia, Epiphyseal, Miura Type 39

Characteristics:

Orphanet epidemiological data:

58
tall stature-scoliosis-macrodactyly of the great toes syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070316
OMIM® 57 615923
Orphanet 58 ORPHA329191
UMLS 70 C4014690

Summaries for Epiphyseal Chondrodysplasia, Miura Type

UniProtKB/Swiss-Prot : 72 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 overgrowth syndrome and epilepsy, familial focal, with variable foci 2. An important gene associated with Epiphyseal Chondrodysplasia, Miura Type is NPR2 (Natriuretic Peptide Receptor 2). Affiliated tissues include bone, smooth muscle and endothelial, and related phenotypes are scoliosis and osteopenia

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.

More information 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 overgrowth syndrome 10.3
2 epilepsy, familial focal, with variable foci 2 10.0 SPAG8 NPR2
3 paraphimosis 9.9 NPR2 NPPC
4 camptodactyly-tall stature-scoliosis-hearing loss syndrome 9.9 NPR2 NPPC
5 thanatophoric dysplasia, type i 9.9 NPR2 NPPC
6 hypochondroplasia 9.8 NPR2 NPPC
7 acromesomelic dysplasia 9.7 SPAG8 NPR2 NPPC
8 acromesomelic dysplasia, maroteaux type 9.7 SPAG8 NPR2 NPPC
9 bone development disease 9.7 NPR2 NPPC

Graphical network of the top 20 diseases related to Epiphyseal Chondrodysplasia, Miura Type:



Diseases related to Epiphyseal Chondrodysplasia, Miura Type

Symptoms & Phenotypes for Epiphyseal Chondrodysplasia, Miura Type

Human phenotypes related to Epiphyseal Chondrodysplasia, Miura Type:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 osteopenia 31 HP:0000938
3 epiphyseal dysplasia 31 HP:0002656
4 arachnodactyly 31 HP:0001166
5 tall stature 31 HP:0000098
6 long hallux 31 HP:0001847
7 finger clinodactyly 31 HP:0040019
8 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Bone, Smooth Muscle, Endothelial

Publications for Epiphyseal Chondrodysplasia, Miura Type

Articles related to Epiphyseal Chondrodysplasia, Miura Type:

(show all 21)
# Title Authors PMID Year
1
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. 57 6
24259409 2014
2
An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities. 6 57
24057292 2013
3
An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene. 57 6
22870295 2012
4
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. 61 6
30544148 2019
5
A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B. 6
23827346 2013
6
A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type. 6
23065701 2013
7
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 6
15146390 2004
8
A new family with epiphyseal chondrodysplasia type Miura. 61
33073519 2021
9
An Investigation into Laser-Assisted Electrochemical Discharge Machining of Transparent Insulating Hard-Brittle Material. 61
33375519 2020
10
Dissociable mechanisms underpinning effort-cost decision-making across the psychosis spectrum. 61
33046339 2020
11
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature. 61
32282051 2020
12
Micro-Drilling of Sapphire using Electro Chemical Discharge Machining. 61
32260103 2020
13
Effort-cost decision-making in psychosis and depression: could a similar behavioral deficit arise from disparate psychological and neural mechanisms? 61
28889803 2018
14
Volumetric quantification of type II endoleaks: an indicator for aneurysm sac growth following endovascular abdominal aortic aneurysm repair. 61
24475801 2014
15
Performance investigation and demonstration of colorless upstream transmission in ECDM-OFDM-PON. 61
21934818 2011
16
Effective concentration difference model to study the effect of various factors on the effective diffusion coefficient in the dialysis membrane. 61
21645656 2011
17
Odour-based context reinstatement effects with indirect measures of memory: the curious case of rosemary. 61
20021709 2010
18
A novel ECDM-OFDM-PON architecture for next-generation optical access network. 61
20721227 2010
19
Antimicrobial resistance and class 1 integrons in pathogenic Escherichia coli from dairy farms. 61
16366857 2005
20
Interaction of arterial cells. I. Endothelial cells alter cholesterol metabolism in co-cultured smooth muscle cells. 61
4067416 1985
21
Electrochemical method for the early detection of urinary-tract infections. 61
937276 1976

Variations for Epiphyseal Chondrodysplasia, Miura Type

ClinVar genetic disease variations for Epiphyseal Chondrodysplasia, Miura Type:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPR2 NM_003995.3(NPR2):c.2647G>A (p.Val883Met) SNV Pathogenic 143053 rs587777595 GRCh37: 9:35807330-35807330
GRCh38: 9:35807333-35807333
2 NPR2 NM_003995.3(NPR2):c.1963C>T (p.Arg655Cys) SNV Pathogenic 143054 rs587777596 GRCh37: 9:35805583-35805583
GRCh38: 9:35805586-35805586
3 NPR2 NM_003995.3(NPR2):c.1462G>C (p.Ala488Pro) SNV Pathogenic 143055 rs587777597 GRCh37: 9:35801665-35801665
GRCh38: 9:35801668-35801668
4 NPR2 , SPAG8 NM_172312.2(SPAG8):c.1373-201T>A SNV Likely pathogenic 579260 rs1563993649 GRCh37: 9:35808504-35808504
GRCh38: 9:35808507-35808507
5 NPR2 NM_003995.3(NPR2):c.987+1G>C SNV Likely pathogenic 468349 rs1554672893 GRCh37: 9:35799729-35799729
GRCh38: 9:35799732-35799732
6 NPR2 NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter) SNV Likely pathogenic 976052 GRCh37: 9:35806124-35806124
GRCh38: 9:35806127-35806127
7 NPR2 NM_003995.4(NPR2):c.263A>C (p.Lys88Thr) SNV Uncertain significance 998732 GRCh37: 9:35792668-35792668
GRCh38: 9:35792671-35792671
8 NPR2 NM_003995.4(NPR2):c.2629A>G (p.Ser877Gly) SNV Uncertain significance 999753 GRCh37: 9:35807129-35807129
GRCh38: 9:35807132-35807132
9 NPR2 NM_003995.4(NPR2):c.953G>A (p.Arg318Gln) SNV Uncertain significance 1000706 GRCh37: 9:35799694-35799694
GRCh38: 9:35799697-35799697
10 NPR2 NM_003995.4(NPR2):c.661G>A (p.Gly221Arg) SNV Uncertain significance 873080 rs1440373349 GRCh37: 9:35793066-35793066
GRCh38: 9:35793069-35793069
11 NPR2 NM_003995.3(NPR2):c.2327G>A (p.Arg776Gln) SNV Uncertain significance 283086 rs780293535 GRCh37: 9:35806185-35806185
GRCh38: 9:35806188-35806188
12 NPR2 NM_003995.4(NPR2):c.749A>G (p.Tyr250Cys) SNV Uncertain significance 1004546 GRCh37: 9:35793976-35793976
GRCh38: 9:35793979-35793979
13 NPR2 NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) SNV Uncertain significance 873128 rs751324720 GRCh37: 9:35802243-35802243
GRCh38: 9:35802246-35802246
14 NPR2 NM_003995.4(NPR2):c.2150T>C (p.Ile717Thr) SNV Uncertain significance 1006076 GRCh37: 9:35805929-35805929
GRCh38: 9:35805932-35805932
15 NPR2 NM_003995.4(NPR2):c.1844T>G (p.Leu615Trp) SNV Uncertain significance 1019606 GRCh37: 9:35802757-35802757
GRCh38: 9:35802760-35802760
16 NPR2 , SPAG8 NM_172312.2(SPAG8):c.1373-213A>G SNV Uncertain significance 194950 rs369313283 GRCh37: 9:35808516-35808516
GRCh38: 9:35808519-35808519
17 NPR2 , SPAG8 NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln) SNV Uncertain significance 1034725 GRCh37: 9:35809417-35809417
GRCh38: 9:35809420-35809420
18 NPR2 NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp) SNV Uncertain significance 913005 GRCh37: 9:35806209-35806209
GRCh38: 9:35806212-35806212
19 NPR2 NM_003995.4(NPR2):c.1589C>A (p.Ala530Asp) SNV Uncertain significance 1035981 GRCh37: 9:35801954-35801954
GRCh38: 9:35801957-35801957
20 NPR2 NM_003995.4(NPR2):c.2362C>T (p.Arg788Cys) SNV Uncertain significance 1036264 GRCh37: 9:35806220-35806220
GRCh38: 9:35806223-35806223
21 NPR2 NM_003995.4(NPR2):c.652C>T (p.Arg218Trp) SNV Uncertain significance 1037301 GRCh37: 9:35793057-35793057
GRCh38: 9:35793060-35793060
22 NPR2 NM_003995.4(NPR2):c.1839C>G (p.Ile613Met) SNV Uncertain significance 1040087 GRCh37: 9:35802752-35802752
GRCh38: 9:35802755-35802755
23 NPR2 NM_003995.3(NPR2):c.1684C>T (p.Arg562Trp) SNV Uncertain significance 593747 rs566096931 GRCh37: 9:35802254-35802254
GRCh38: 9:35802257-35802257
24 NPR2 NM_003995.4(NPR2):c.65C>T (p.Ala22Val) SNV Uncertain significance 1042436 GRCh37: 9:35792470-35792470
GRCh38: 9:35792473-35792473
25 NPR2 NM_003995.4(NPR2):c.788G>A (p.Arg263His) SNV Uncertain significance 1043981 GRCh37: 9:35794015-35794015
GRCh38: 9:35794018-35794018
26 NPR2 NM_003995.4(NPR2):c.1802G>A (p.Arg601His) SNV Uncertain significance 1044098 GRCh37: 9:35802591-35802591
GRCh38: 9:35802594-35802594
27 NPR2 , SPAG8 NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys) SNV Uncertain significance 1044291 GRCh37: 9:35809403-35809403
GRCh38: 9:35809406-35809406
28 NPR2 NM_003995.4(NPR2):c.2429A>G (p.Asn810Ser) SNV Uncertain significance 1044739 GRCh37: 9:35806445-35806445
GRCh38: 9:35806448-35806448
29 NPR2 NM_003995.4(NPR2):c.1948T>G (p.Cys650Gly) SNV Uncertain significance 1051689 GRCh37: 9:35805568-35805568
GRCh38: 9:35805571-35805571
30 NPR2 NM_003995.3(NPR2):c.2455C>T (p.Arg819Cys) SNV Uncertain significance 208356 rs766256429 GRCh37: 9:35806471-35806471
GRCh38: 9:35806474-35806474
31 NPR2 NM_003995.4(NPR2):c.2360G>A (p.Arg787Gln) SNV Uncertain significance 1062716 GRCh37: 9:35806218-35806218
GRCh38: 9:35806221-35806221
32 NPR2 NM_003995.4(NPR2):c.2363G>A (p.Arg788His) SNV Uncertain significance 1064023 GRCh37: 9:35806221-35806221
GRCh38: 9:35806224-35806224
33 NPR2 NM_003995.4(NPR2):c.1368G>A (p.Leu456=) SNV Uncertain significance 840961 GRCh37: 9:35801083-35801083
GRCh38: 9:35801086-35801086
34 NPR2 NM_003995.4(NPR2):c.1517G>A (p.Arg506His) SNV Uncertain significance 843278 GRCh37: 9:35801720-35801720
GRCh38: 9:35801723-35801723
35 NPR2 NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu) SNV Uncertain significance 843685 GRCh37: 9:35800800-35800800
GRCh38: 9:35800803-35800803
36 NPR2 NM_003995.3(NPR2):c.830A>G (p.Asn277Ser) SNV Uncertain significance 521609 rs770531192 GRCh37: 9:35794057-35794057
GRCh38: 9:35794060-35794060
37 NPR2 NM_003995.3(NPR2):c.2321C>T (p.Ala774Val) SNV Uncertain significance 445544 rs369154896 GRCh37: 9:35806179-35806179
GRCh38: 9:35806182-35806182
38 NPR2 NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser) SNV Uncertain significance 848001 GRCh37: 9:35807060-35807060
GRCh38: 9:35807063-35807063
39 NPR2 , SPAG8 NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro) SNV Uncertain significance 858821 GRCh37: 9:35808633-35808633
GRCh38: 9:35808636-35808636
40 NPR2 NM_003995.4(NPR2):c.1268G>A (p.Arg423Gln) SNV Uncertain significance 944231 GRCh37: 9:35800755-35800755
GRCh38: 9:35800758-35800758
41 NPR2 NM_003995.4(NPR2):c.1123G>C (p.Gly375Arg) SNV Uncertain significance 946192 GRCh37: 9:35800154-35800154
GRCh38: 9:35800157-35800157
42 NPR2 NM_003995.4(NPR2):c.1547C>T (p.Thr516Ile) SNV Uncertain significance 947302 GRCh37: 9:35801750-35801750
GRCh38: 9:35801753-35801753
43 NPR2 NM_003995.4(NPR2):c.155C>A (p.Ala52Asp) SNV Uncertain significance 947303 GRCh37: 9:35792560-35792560
GRCh38: 9:35792563-35792563
44 NPR2 NM_003995.4(NPR2):c.1636A>T (p.Asn546Tyr) SNV Uncertain significance 951022 GRCh37: 9:35802206-35802206
GRCh38: 9:35802209-35802209
45 NPR2 NM_003995.3(NPR2):c.725G>A (p.Arg242Lys) SNV Uncertain significance 366781 rs774099913 GRCh37: 9:35793952-35793952
GRCh38: 9:35793955-35793955
46 NPR2 NM_003995.4(NPR2):c.1198C>G (p.Leu400Val) SNV Uncertain significance 972076 GRCh37: 9:35800460-35800460
GRCh38: 9:35800463-35800463
47 NPR2 NM_003995.3(NPR2):c.1313C>A (p.Pro438His) SNV Uncertain significance 583173 rs778410447 GRCh37: 9:35800800-35800800
GRCh38: 9:35800803-35800803
48 NPR2 NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) SNV Uncertain significance 193262 rs140014632 GRCh37: 9:35792469-35792469
GRCh38: 9:35792472-35792472
49 NPR2 NM_003995.3(NPR2):c.2260C>T (p.Arg754Trp) SNV Uncertain significance 639899 rs371968545 GRCh37: 9:35806118-35806118
GRCh38: 9:35806121-35806121
50 NPR2 NM_003995.3(NPR2):c.2281C>T (p.Leu761=) SNV Uncertain significance 665123 rs1481862376 GRCh37: 9:35806139-35806139
GRCh38: 9:35806142-35806142

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

72
# 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

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:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.48 NPR2 NPPC
2 regulation of blood pressure GO:0008217 9.46 NPR2 GCGR
3 regulation of cardiac conduction GO:1903779 9.43 NPR2 NPPC
4 cGMP-mediated signaling GO:0019934 9.4 NPR2 NPPC
5 cGMP biosynthetic process GO:0006182 9.37 NPR2 NPPC
6 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 NPR2 NPPC
7 reproductive process GO:0022414 9.26 NPR2 NPPC
8 positive regulation of cGMP-mediated signaling GO:0010753 9.16 NPR2 NPPC
9 negative regulation of meiotic cell cycle GO:0051447 8.96 NPR2 NPPC
10 negative regulation of oocyte maturation GO:1900194 8.62 NPR2 NPPC

Molecular functions related to Epiphyseal Chondrodysplasia, Miura Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 8.62 NPR2 GCGR

Sources for Epiphyseal Chondrodysplasia, Miura Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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