THANATOPHORIC DYSPLASIA, GLASGOW VARIANT
General Information (adopted from Orphanet):
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Synonyms, Signs:
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NEONATALLY LETHAL SHORT-LIMB SKELETAL DYSPLASIA, GLASGOW TYPE
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Number of Symptoms
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12
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OrphanetNr:
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OMIM Id:
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273680
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000518)
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Cataract |
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454 / 7739
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2
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(HPO:0002983)
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Micromelia |
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130 / 7739
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3
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(HPO:0001433)
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Hepatosplenomegaly |
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78 / 7739
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4
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(HPO:0001903)
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Anemia |
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289 / 7739
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5
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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6
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(OMIM)
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Curved humeri |
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1 / 7739
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7
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(OMIM)
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Curved femora |
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1 / 7739
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8
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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9
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(OMIM)
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Thanatophoric dysplasia |
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1 / 7739
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10
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(HPO:0003811)
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Neonatal death |
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44 / 7739
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11
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(OMIM)
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Growth plate generally disrupted with inadequate columns and fibrous bands |
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1 / 7739
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12
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(OMIM)
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Hypoplasia of iliac, pubic, and ischial bones |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |