Albright hereditary osteodystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 61 |
| OrphanetNr: | 665 |
| OMIM Id: |
103580
612462 612463 |
| ICD-10: |
E20.1 Q78.1 |
| UMLs: |
C2931404 |
| MeSH: |
C537045 |
| MedDRA: |
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| Snomed: |
58833000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic dermis disorder
-Rare genetic disease Musculoskeletal disease with cataract -Rare eye disease -Rare genetic disease Pseudohypoparathyroidism -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare renal disease Syndrome with brachydactyly -Rare bone disease -Rare developmental defect during embryogenesis Syndromic obesity -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease Unclassified dermis disorder -Rare skin disease |
Symptom Information:
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(HPO:0010788) | Testicular neoplasm | Occasional [Orphanet] | 10 / 7739 | |||
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(HPO:0000137) | Abnormality of the ovary | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0000858) | Menstrual irregularities | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000036) | Abnormality of the penis | Frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000135) | Hypogonadism | 89 / 7739 | ||||
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(HPO:0000929) | Abnormality of the skull | Very frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0006297) | Hypoplasia of dental enamel | 64 / 7739 | ||||
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(HPO:0002684) | Thickened calvaria | 32 / 7739 | ||||
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(HPO:0000280) | Coarse facial features | Frequent [Orphanet] | 189 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | 117 / 7739 | ||||
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(HPO:0000311) | Round face | Very frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0004437) | Cranial hyperostosis | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0000293) | Full cheeks | 85 / 7739 | ||||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0003472) | Hypocalcemic tetany | 3 / 7739 | ||||
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(HPO:0100543) | Cognitive impairment | 230 / 7739 | ||||
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(HPO:0000771) | Gynecomastia | Very frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0100013) | Neoplasm of the breast | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0000853) | Goiter | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0100031) | Neoplasm of the thyroid gland | Occasional [Orphanet] | 15 / 7739 | |||
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(HPO:0000852) | Pseudohypoparathyroidism | 6 / 7739 | ||||
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(HPO:0000826) | Precocious puberty | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0003456) | Low urinary cyclic AMP response to PTH administration | 4 / 7739 | ||||
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(HPO:0000836) | Hyperthyroidism | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | 141 / 7739 | ||||
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(HPO:0003165) | Elevated circulating parathyroid hormone level | 17 / 7739 | ||||
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(HPO:0010743) | Short metatarsal | 56 / 7739 | ||||
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(HPO:0006960) | Choroid plexus calcification | 5 / 7739 | ||||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
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(HPO:0001367) | Abnormal joint morphology | Very frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0010049) | Short metacarpal | 99 / 7739 | ||||
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(HPO:0009381) | Short finger | 45 / 7739 | ||||
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(HPO:0002659) | Increased susceptibility to fractures | Occasional [Orphanet] | 110 / 7739 | |||
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(HPO:0002135) | Basal ganglia calcification | 37 / 7739 | ||||
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(HPO:0001831) | Short toe | 52 / 7739 | ||||
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(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000957) | Cafe-au-lait spot | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0001596) | Alopecia | Occasional [Orphanet] | 162 / 7739 | |||
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(HPO:0000958) | Dry skin | Frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000963) | Thin skin | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0100530) | Abnormality of calcium-phosphate metabolism | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0002905) | Hyperphosphatemia | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0100242) | Sarcoma | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003812) | Phenotypic variability | 129 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|