MCID: SPN300
MIFTS: 14

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 58 74
Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disease
onset between 2 to 20 years


HPO:

33
spondyloepiphyseal dysplasia tarda, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

NIH Rare Diseases : 54 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). Affiliated tissues include bone, and related phenotypes are malar flattening and short neck

Description 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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 short neck 33 HP:0000470
3 arthritis 33 HP:0001369
4 pectus carinatum 33 HP:0000768
5 platyspondyly 33 HP:0000926
6 kyphoscoliosis 33 HP:0002751
7 hypoplasia of the odontoid process 33 HP:0003311
8 avascular necrosis of the capital femoral epiphysis 33 HP:0005743
9 barrel-shaped chest 33 HP:0001552
10 lumbar hyperlordosis 33 HP:0002938
11 irregular vertebral endplates 33 HP:0003301
12 spondyloepiphyseal dysplasia 33 HP:0002655
13 hip pain 33 HP:0030838
14 knee pain 33 HP:0030839
15 cervical subluxation 33 HP:0003308
16 childhood-onset short-trunk short stature 33 HP:0008922

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
arthritis
platyspondyly
scoliosis (in some patients)
irregular end plates
kyphoscoliosis (in some patients)

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

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

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:

42
Bone

Publications for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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
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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