Familial isolated hypoparathyroidism
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 12 |
OrphanetNr: | 2238 |
OMIM Id: |
146200
307700 601198 615361 |
ICD-10: |
E20.8 Q89.2 |
UMLs: |
C1832648 |
MeSH: |
C537156 |
MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | < 10 families [Orphanet] |
Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive [Orphanet] |
Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic hypoparathyroidism
-Rare genetic disease Metabolic disease with cataract -Rare eye disease -Rare genetic disease Rare hypoparathyroidism -Rare endocrine disease |
Symptom Information:
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(HPO:0000112) | Nephropathy | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000682) | Abnormality of dental enamel | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000829) | Hypoparathyroidism | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Frequent [Orphanet] | 226 / 7739 | |||
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(HPO:0002901) | Hypocalcemia | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0100530) | Abnormality of calcium-phosphate metabolism | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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