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Spondyloepiphyseal dysplasia tarda
3 OMIM references -
1 associated gene
7 connected diseases
18 signs/symptoms
Disease Type of connection
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive nonsyndromic intellectual deficit
Intellectual deficit - obesity - brain malformations - facial dysmorphism
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
X-linked intellectual deficit - cardiomegaly - congestive heart failure
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
TRAPPC2 P0DI81300202
Very frequent
- Articular / joint pain / arthralgia
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Kyphosis
- Osteoarthritis
- Platyspondyly
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- X-linked recessive inheritance

Frequent
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Lordosis
- Odontoid hypoplasia
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Scoliosis
- Short neck

Occasional
- Autosomal dominant inheritance
- Autosomal recessive inheritance