MCID: SPN300
MIFTS: 15

Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Categories: 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 73
Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disease
onset between 2 to 20 years


HPO:

32
spondyloepiphyseal dysplasia tarda, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

NIH Rare Diseases : 53 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

Symptoms via clinical synopsis from OMIM:

57
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
osteochondritis dessecans of the shoulders, elbows, and knees
bilateral knee pain
stiff gait

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


Clinical features from OMIM:

184100

Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 short neck 32 HP:0000470
3 arthritis 32 HP:0001369
4 pectus carinatum 32 HP:0000768
5 platyspondyly 32 HP:0000926
6 kyphoscoliosis 32 HP:0002751
7 hypoplasia of the odontoid process 32 HP:0003311
8 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
9 barrel-shaped chest 32 HP:0001552
10 lumbar hyperlordosis 32 HP:0002938
11 irregular vertebral endplates 32 HP:0003301
12 spondyloepiphyseal dysplasia 32 HP:0002655
13 cervical subluxation 32 HP:0003308
14 childhood-onset short-trunk short stature 32 HP:0008922

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:

41
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 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
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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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