|
SEMDAG
MCID: SPN136
MIFTS: 25
|
Spondyloepimetaphyseal Dysplasia, Aggrecan Type (SEMDAG)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:
Characteristics:Orphanet epidemiological data:58
spondyloepimetaphyseal dysplasia, aggrecan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
one family from zacatecas, mexico has been described (last curated august 2017) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
|
NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171866 Definition Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature , facial dysmorphism and characteristic radiographic findings. Epidemiology To date, three cases have been described, all originating from the same family. Clinical description Facial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly. Radiographic findings include irregular epiphyses of long bones with widened metaphyses, platyspondyly, multiple cervical-vertebral clefts and brachydactyly . Etiology The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene ; chromosome 15) which regulates endochondral ossification. Transmission is autosomal-recessive. Visit the Orphanet disease page for more resources.
MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Aggrecan Type, also known as semd, aggrecan type, is related to spondyloepimetaphyseal dysplasia, matrilin-3 related. An important gene associated with Spondyloepimetaphyseal Dysplasia, Aggrecan Type is ACAN (Aggrecan). Affiliated tissues include bone, and related phenotypes are short neck and mandibular prognathia UniProtKB/Swiss-Prot : 73 Spondyloepimetaphyseal dysplasia, aggrecan type: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.
More information from OMIM:
612813
|
Diseases related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type via text searches within MalaCards or GeneCards Suite gene sharing:
|
Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:58 31 (show all 24)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612813 |
|
|
MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:40
Bone
|
Articles related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type:
|
Genes related to Spondyloepimetaphyseal Dysplasia, Aggrecan Type (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:6
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Aggrecan Type:73
|
|
Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Aggrecan Type.
|
|
|
|