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OPSMD
MCID: OPS002
MIFTS: 34
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Opsismodysplasia (OPSMD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases
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MalaCards integrated aliases for Opsismodysplasia:Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
may result in death in neonatal period or early childhood Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Respiratory diseases Smell/Taste diseases
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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OMIM®: 57 Opsismodysplasia (OPSMD) is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013 and Fradet and Fitzgerald, 2017). (258480) (Updated 08-Dec-2022) MalaCards based summary: Opsismodysplasia, also known as opsmd, is related to osteochondrodysplasia and bone disease. An important gene associated with Opsismodysplasia is INPPL1 (Inositol Polyphosphate Phosphatase Like 1). Affiliated tissues include bone and skin, and related phenotypes are macrocephaly and frontal bossing GARD: 19 Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with Opsismodysplasia are at an increased risk for respiratory infections and respiratory failure. This condition is caused by genetic changes in the INPPL1 the gene. It is inherited in an autosomal recessive manner. UniProtKB/Swiss-Prot: 73 A rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges. Orphanet: 58 Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. Wikipedia: 75 Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development)... more... |
Diseases related to Opsismodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Opsismodysplasia:
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Human phenotypes related to Opsismodysplasia:58 30 (show top 50) (show all 62)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:258480 (Updated 08-Dec-2022) |
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Organs/tissues related to Opsismodysplasia:
MalaCards :
Bone,
Skin
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Articles related to Opsismodysplasia:(show all 26)
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Genes related to Opsismodysplasia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Opsismodysplasia:5 (show all 32)
UniProtKB/Swiss-Prot genetic disease variations for Opsismodysplasia:73
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Search
GEO
for disease gene expression data for Opsismodysplasia.
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