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SMMD
MCID: SPN208
MIFTS: 28
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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (SMMD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:Characteristics:Orphanet epidemiological data:58
spondylo-megaepiphyseal-metaphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
mutations result in inactivation of nkx3-2 HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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OMIM® :
57
Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009). (613330) (Updated 20-May-2021)
MalaCards based summary : Spondylo-Megaepiphyseal-Metaphyseal Dysplasia, also known as smmd, is related to metaphyseal dysplasia and cleidocranial dysplasia. An important gene associated with Spondylo-Megaepiphyseal-Metaphyseal Dysplasia is NKX3-2 (NK3 Homeobox 2). Affiliated tissues include bone, and related phenotypes are macrocephaly and short neck KEGG : 36 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait. UniProtKB/Swiss-Prot : 72 Spondylo-megaepiphyseal-metaphyseal dysplasia: A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet. |
Diseases related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:(show all 11)
Graphical network of the top 20 diseases related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:
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Human phenotypes related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:31 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:613330 (Updated 20-May-2021) |
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MalaCards organs/tissues related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:40
Bone
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Articles related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:
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Genes related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:6
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Search
GEO
for disease gene expression data for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia.
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