Dyschromatosis universalis hereditaria 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 16 |
| OrphanetNr: | |
| OMIM Id: |
612715
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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: | No data available. |
| Inheritance: |
Autosomal dominant |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Comment:
| Dyschromatosis universals hereditary 2 is caused by mutations in the gene DUH2 mapping to chromosome 12q21-q23. Dyschromatosis universals hereditaria is clinically diagnosed on the basis of widely distributed small hypo- and hyperpigmented lesions with appearance in infancy or early childhood (PMID:25474346). DUH is usually transmitted in an autosomal dominant pattern, with very few autosomal recessive and even sporadic cases reported (PMID:25474346). Precise etiology is not yet known, but clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing (PMID:12372090). |
Symptom Information:
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(HPO:0100669) | Abnormal pigmentation of the oral mucosa | 12372090 | IBIS | 7 / 7739 | ||
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(HPO:0000518) | Cataract | Occasional [IBIS] | 25288164 | IBIS | 454 / 7739 | |
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(HPO:0000501) | Glaucoma | Occasional [IBIS] | 25288164 | IBIS | 180 / 7739 | |
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(HPO:0005101) | High-frequency hearing impairment | Occasional [IBIS] | 25288164 | IBIS | 16 / 7739 | |
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(HPO:0002069) | Generalized tonic-clonic seizures | Occasional [IBIS] | 25288164 | IBIS | 96 / 7739 | |
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(HPO:0004322) | Short stature | Occasional [IBIS] | 25288164 | IBIS | 1232 / 7739 | |
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(HPO:0001070) | Mottled pigmentation | 25474346 | IBIS | 8 / 7739 | ||
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(HPO:0005590) | Spotty hypopigmentation | 25474346 | IBIS | 10 / 7739 | ||
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(HPO:0007441) | Hyperpigmented/hypopigmented macules | Very frequent [IBIS] | 25474346 | IBIS | 6 / 7739 | |
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(HPO:0005585) | Spotty hyperpigmentation | 25474346 | IBIS | 8 / 7739 | ||
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(HPO:0008404) | Nail dystrophy | 24320734 | IBIS | 89 / 7739 | ||
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(HPO:0007384) | Aberrant melanosome maturation | 25474346 | IBIS | 4 / 7739 | ||
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(HPO:0007439) | Generalized keratosis follicularis | 21382285 | IBIS | 4 / 7739 | ||
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(HPO:0001872) | Abnormality of thrombocytes | Occasional [IBIS] | 25288164 | IBIS | 20 / 7739 | |
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(HPO:0001877) | Abnormality of erythrocytes | Occasional [IBIS] | 25288164 | IBIS | 18 / 7739 | |
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(HPO:0004365) | Abnormality of tryptophan metabolism | Occasional [IBIS] | 25288164 | IBIS | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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