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 57 75 6
Edm7 57 12 75
Multiple Epiphyseal Dysplasia 7 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617719
Disease Ontology 12 DOID:0070302
MeSH 44 D010009

Summaries for Epiphyseal Dysplasia, Multiple, 7

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 7:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 epiphyseal dysplasia 32 HP:0002656
3 platyspondyly 32 HP:0000926
4 genu varum 32 HP:0002970
5 small epiphyses 32 HP:0010585
6 short femoral neck 32 HP:0100864
7 advanced ossification of carpal bones 32 HP:0004233

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:

41
Bone

Publications for Epiphyseal Dysplasia, Multiple, 7

Variations for Epiphyseal Dysplasia, Multiple, 7

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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