Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:

Name: Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant ⁵⁷ ⁷⁰

Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-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:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 184100

MedGen ⁴¹ C1866717

SNOMED-CT via HPO ⁶⁸ 111255008 205101001 240241003 more

UMLS ⁷⁰ C1866717

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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

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Related Diseases for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Diseases in the Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant family:

Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

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Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:

³¹ (show all 16)

#	Description	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 20-May-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 20-May-2021)

UMLS symptoms related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant:

bilateral knee pain

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Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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

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Genetic Tests for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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Anatomical Context for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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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	Ramesar R...Beighton P	1353665	1992
2	Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. ⁵⁷	Anderson IJ...Beighton P	1978986	1990
3	Spondyloepiphyseal dysplasia tarda. Report of a family with autosomal dominant transmission. ⁵⁷	Schantz K...Justesen P	3213464	1988
4	A family with multiple musculoskeletal abnormalities. ⁵⁷	Barber KE...Mayo KM	6424589	1984
5	Multiple epiphyseal dysplasia. Three cases with unusual vertebral abnormalities. ⁵⁷	Felman AH	5801124	1969
6	Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias. ⁶¹	Wordsworth P...Sykes B	2902229	1988

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Genes for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

Genes related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPDT	Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Genetic Locus	58.93	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)

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Variations for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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Expression for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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

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Pathways for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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GO Terms for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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Sources for Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia