Retinohepatoendocrinologic syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RHE SYNDROME |
| Number of Symptoms | 33 |
| OrphanetNr: | 3087 |
| OMIM Id: |
268040
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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:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic polyendocrinopathy
-Rare genetic disease Polyendocrinopathy -Rare endocrine disease |
Symptom Information:
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(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0008734) | Decreased testicular size | Occasional [Orphanet] | 105 / 7739 | |||
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(HPO:0000054) | Micropenis | Occasional [Orphanet] | 257 / 7739 | |||
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(HPO:0000262) | Turricephaly | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Occasional [Orphanet] | 366 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0008020) | Progressive cone degeneration | 4 / 7739 | ||||
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(HPO:0000505) | Visual impairment | Frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000543) | Optic disc pallor | 67 / 7739 | ||||
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(HPO:0000613) | Photophobia | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0000642) | Red-green dyschromatopsia | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0007803) | Monochromacy | 3 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0005978) | Type II diabetes mellitus | Frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0004904) | Maturity-onset diabetes of the young | 17 / 7739 | ||||
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(HPO:0000821) | Hypothyroidism | Frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0005237) | Degenerative liver disease | 1 / 7739 | ||||
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(HPO:0006568) | Increased hepatic glycogen content | Frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0001513) | Obesity | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | 105 / 7739 | ||||
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(HPO:0000980) | Pallor | 52 / 7739 | ||||
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(HPO:0011025) | Abnormality of cardiovascular system physiology | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0003119) | Abnormality of lipid metabolism | Occasional [Orphanet] | 60 / 7739 | |||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(OMIM) | Attenuated retinal vessels | 4 / 7739 | ||||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Atrophic retinal appearance | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(OMIM) | No retinal pigmentation | 1 / 7739 | ||||
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(OMIM) | Photopic function lost | 1 / 7739 | ||||
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(OMIM) | Scotopic function well preserved | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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