EDM7
MCID: EPP026
MIFTS: 23

Epiphyseal Dysplasia, Multiple, 7 (EDM7)

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 7

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 7:

Name: Epiphyseal Dysplasia, Multiple, 7 57 72 29 6
Edm7 57 12 72
Multiple Epiphyseal Dysplasia 7 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 brothers and 1 unrelated patient (last curated october 2017)


HPO:

31
epiphyseal dysplasia, multiple, 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070302
OMIM® 57 617719
OMIM Phenotypic Series 57 PS132400
MeSH 44 D010009

Summaries for Epiphyseal Dysplasia, Multiple, 7

UniProtKB/Swiss-Prot : 72 Epiphyseal dysplasia, multiple, 7: A form of multiple epiphyseal dysplasia, a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. EDM7 inheritance is autosomal recessive.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 7, is also known as edm7. An important gene associated with Epiphyseal Dysplasia, Multiple, 7 is CANT1 (Calcium Activated Nucleotidase 1). Affiliated tissues include bone, and related phenotypes are scoliosis and epiphyseal dysplasia

Disease Ontology : 12 A multiple epiphyseal dysplasia that has material basis in homozygous mutation in the CANT1 gene on chromosome 17q25.

More information from OMIM: 617719 PS132400

Related Diseases for Epiphyseal Dysplasia, Multiple, 7

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 7

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 7:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 epiphyseal dysplasia 31 HP:0002656
3 platyspondyly 31 HP:0000926
4 genu varum 31 HP:0002970
5 mild short stature 31 HP:0003502
6 short femoral neck 31 HP:0100864
7 small epiphyses 31 HP:0010585
8 advanced ossification of carpal bones 31 HP:0004233

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Limbs:
genu varum
short femoral neck
hypoplastic capital femoral epiphyses
irregularly shaped capital femoral epiphyses
'swedish key' appearance of proximal femur, mild
more
Skeletal Hands:
advanced carpal bone age
degenerative arthrosis of the hands, early-onset (in 1 patient)

Skeletal Spine:
anterior wedging of vertebral bodies
minimal platyspondyly
scoliosis, mild (in 1 patient)
degenerative arthrosis of the spine, early-onset (in 1 patient)

Growth Height:
short stature, mild

Skeletal Pelvis:
flat acetabulae

Clinical features from OMIM®:

617719 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 7

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 7

Genetic Tests for Epiphyseal Dysplasia, Multiple, 7

Genetic tests related to Epiphyseal Dysplasia, Multiple, 7:

# Genetic test Affiliating Genes
1 Epiphyseal Dysplasia, Multiple, 7 29 CANT1

Anatomical Context for Epiphyseal Dysplasia, Multiple, 7

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 7:

40
Bone

Publications for Epiphyseal Dysplasia, Multiple, 7

Articles related to Epiphyseal Dysplasia, Multiple, 7:

# Title Authors PMID Year
1
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. 57 6
28742282 2017
2
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. 6 57
21037275 2011
3
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. 6
21412251 2011
4
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. 6
20358597 2010

Variations for Epiphyseal Dysplasia, Multiple, 7

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CANT1 NM_001159773.2(CANT1):c.676G>A (p.Val226Met) SNV Pathogenic 31018 rs377546036 GRCh37: 17:76991259-76991259
GRCh38: 17:78995177-78995177
2 CANT1 NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe) SNV Pathogenic 441248 rs1014317450 GRCh37: 17:76993194-76993194
GRCh38: 17:78997112-78997112
3 CANT1 NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) SNV Likely pathogenic 548509 rs372631124 GRCh37: 17:76989726-76989726
GRCh38: 17:78993644-78993644

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 7:

72
# Symbol AA change Variation ID SNP ID
1 CANT1 p.Val226Met VAR_068659 rs377546036

Expression for Epiphyseal Dysplasia, Multiple, 7

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 7.

Pathways for Epiphyseal Dysplasia, Multiple, 7

GO Terms for Epiphyseal Dysplasia, Multiple, 7

Cellular components related to Epiphyseal Dysplasia, Multiple, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.62 CD4 CANT1

Biological processes related to Epiphyseal Dysplasia, Multiple, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 8.62 CD4 CANT1

Molecular functions related to Epiphyseal Dysplasia, Multiple, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.62 CD4 CANT1

Sources for Epiphyseal Dysplasia, Multiple, 7

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
41 MedGen
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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