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MCID: OPS002
MIFTS: 38
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Opsismodysplasia
Categories:
Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
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MalaCards integrated aliases for Opsismodysplasia:Characteristics:Orphanet epidemiological data:59
opsismodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
may result in death in neonatal period or early childhood HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
34
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OMIM
:
57
Opsismodysplasia 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 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 (summary by Below et al., 2013). (258480)
MalaCards based summary : Opsismodysplasia, also known as opsmd, is related to hypophosphatemic rickets, x-linked recessive and rickets. An important gene associated with Opsismodysplasia is INPPL1 (Inositol Polyphosphate Phosphatase Like 1). Affiliated tissues include bone, and related phenotypes are macrocephaly and pectus excavatum NIH Rare Diseases : 53 Opsismodysplasia is a rare skeletal dysplasia characterized by congenitalshort 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 mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner. UniProtKB/Swiss-Prot : 75 Opsismodysplasia: 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. Wikipedia : 76 Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development)... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:258480Human phenotypes related to Opsismodysplasia:59 32 (show all 48)
MGI Mouse Phenotypes related to Opsismodysplasia:46
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MalaCards organs/tissues related to Opsismodysplasia:41
Bone
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Articles related to Opsismodysplasia:(show all 19)
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Genes related to Opsismodysplasia (2 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Opsismodysplasia:75
ClinVar genetic disease variations for Opsismodysplasia:6
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Search
GEO
for disease gene expression data for Opsismodysplasia.
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Biological processes related to Opsismodysplasia according to GeneCards Suite gene sharing:
Molecular functions related to Opsismodysplasia according to GeneCards Suite gene sharing:
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