MCID: SPN300
MIFTS: 15

Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:

Name: Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 57 71
Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disease
onset between 2 to 20 years


HPO:

31
spondyloepiphyseal dysplasia tarda, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 184100
MedGen 41 C1866717
UMLS 71 C1866717

Summaries for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

GARD : 20 Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant, is also known as autosomal dominant spondyloepiphyseal dysplasia tarda, and has symptoms including bilateral knee pain An important gene associated with Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant is SPDT (Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant). Related phenotypes are short neck and arthritis

More information from OMIM: 184100

Related Diseases for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 arthritis 31 HP:0001369
3 pectus carinatum 31 HP:0000768
4 kyphoscoliosis 31 HP:0002751
5 platyspondyly 31 HP:0000926
6 malar flattening 31 HP:0000272
7 hypoplasia of the odontoid process 31 HP:0003311
8 avascular necrosis of the capital femoral epiphysis 31 HP:0005743
9 hip pain 31 HP:0030838
10 irregular vertebral endplates 31 HP:0003301
11 lumbar hyperlordosis 31 HP:0002938
12 barrel-shaped chest 31 HP:0001552
13 spondyloepiphyseal dysplasia 31 HP:0002655
14 knee pain 31 HP:0030839
15 childhood-onset short-trunk short stature 31 HP:0008922
16 cervical subluxation 31 HP:0003308

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
arthritis
platyspondyly
scoliosis (in some patients)
kyphoscoliosis (in some patients)
irregular end plates

Chest External Features:
barrel-shaped chest

Skeletal Pelvis:
bilateral congenital hip dislocation (in some patients)
reduction in hip movement
osteochondritis dessecans of the hip
bilateral hip pain

Skeletal Limbs:
arthritis
bilateral knee pain
osteochondritis dessecans of the shoulders, elbows, and knees
stiff gait

Growth Height:
short trunk, not evident at birth
reduced upper- to lower-body segment ratio

Clinical features from OMIM®:

184100 (Updated 05-Mar-2021)

UMLS symptoms related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:


bilateral knee pain

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Genetic Tests for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Anatomical Context for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Publications for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Articles related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:

# Title Authors PMID Year
1
Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1). 57
1353665 1992
2
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. 57
1978986 1990
3
Spondyloepiphyseal dysplasia tarda. Report of a family with autosomal dominant transmission. 57
3213464 1988
4
A family with multiple musculoskeletal abnormalities. 57
6424589 1984
5
Multiple epiphyseal dysplasia. Three cases with unusual vertebral abnormalities. 57
5801124 1969
6
Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias. 61
2902229 1988

Variations for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Expression for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant.

Pathways for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

GO Terms for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Sources for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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