EDM7
MCID: EPP026
MIFTS: 19

Epiphyseal Dysplasia, Multiple, 7 (EDM7)

Categories: Bone 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 58 76 6
Edm7 58 12 76
Multiple Epiphyseal Dysplasia 7 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0070302
OMIM 58 617719
MeSH 45 D010009

Summaries for Epiphyseal Dysplasia, Multiple, 7

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 617719

Related Diseases for Epiphyseal Dysplasia, Multiple, 7

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 7

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 7:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 epiphyseal dysplasia 33 HP:0002656
3 platyspondyly 33 HP:0000926
4 genu varum 33 HP:0002970
5 small epiphyses 33 HP:0010585
6 short femoral neck 33 HP:0100864
7 advanced ossification of carpal bones 33 HP:0004233

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Epiphyseal Dysplasia, Multiple, 7

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

42
Bone

Publications for Epiphyseal Dysplasia, Multiple, 7

Variations for Epiphyseal Dysplasia, Multiple, 7

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

76
# Symbol AA change Variation ID SNP ID
1 CANT1 p.Val226Met VAR_068659 rs377546036

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CANT1 NM_001159772.1(CANT1): c.676G> A (p.Val226Met) single nucleotide variant Pathogenic rs377546036 GRCh37 Chromosome 17, 76991259: 76991259
2 CANT1 NM_001159772.1(CANT1): c.676G> A (p.Val226Met) single nucleotide variant Pathogenic rs377546036 GRCh38 Chromosome 17, 78995177: 78995177
3 CANT1 NM_001159772.1(CANT1): c.511A> T (p.Ile171Phe) single nucleotide variant Pathogenic rs1014317450 GRCh37 Chromosome 17, 76993194: 76993194
4 CANT1 NM_001159772.1(CANT1): c.511A> T (p.Ile171Phe) single nucleotide variant Pathogenic rs1014317450 GRCh38 Chromosome 17, 78997112: 78997112
5 CANT1 NM_001159772.1(CANT1): c.1112C> T (p.Ala371Val) single nucleotide variant Likely pathogenic rs372631124 GRCh37 Chromosome 17, 76989726: 76989726
6 CANT1 NM_001159772.1(CANT1): c.1112C> T (p.Ala371Val) single nucleotide variant Likely pathogenic rs372631124 GRCh38 Chromosome 17, 78993644: 78993644

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

Sources for Epiphyseal Dysplasia, Multiple, 7

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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