Dyschromatosis universalis hereditaria 1

General Information (adopted from Orphanet):

Synonyms, Signs: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1
DUH1
Number of Symptoms 16
OrphanetNr:
OMIM Id: 127500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

Dyschromatosis universals hereditary 1 is caused by mutations in the gene DUH1 mapping to chromosome 6q24.2-q25.2. Dyschromatosis universals hereditary 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: Sort by abundance 

1
(HPO:0100669) Abnormal pigmentation of the oral mucosa 12372090 IBIS 7 / 7739
2
(HPO:0000518) Cataract Occasional [IBIS] 25288164 IBIS 454 / 7739
3
(HPO:0000501) Glaucoma Occasional [IBIS] 25288164 IBIS 180 / 7739
4
(HPO:0005101) High-frequency hearing impairment Occasional [IBIS] 25288164 IBIS 16 / 7739
5
(HPO:0002069) Generalized tonic-clonic seizures Occasional [IBIS] 25288164 IBIS 96 / 7739
6
(HPO:0004322) Short stature Occasional [IBIS] 25288164 IBIS 1232 / 7739
7
(HPO:0007441) Hyperpigmented/hypopigmented macules Very frequent [IBIS] 25474346 IBIS 6 / 7739
8
(HPO:0001070) Mottled pigmentation 25474346 IBIS 8 / 7739
9
(HPO:0007439) Generalized keratosis follicularis 21382285 IBIS 4 / 7739
10
(HPO:0007384) Aberrant melanosome maturation 25474346 IBIS 4 / 7739
11
(HPO:0008404) Nail dystrophy 24320734 IBIS 89 / 7739
12
(HPO:0005585) Spotty hyperpigmentation 25474346 IBIS 8 / 7739
13
(HPO:0005590) Spotty hypopigmentation 25474346 IBIS 10 / 7739
14
(HPO:0001877) Abnormality of erythrocytes Occasional [IBIS] 25288164 IBIS 18 / 7739
15
(HPO:0001872) Abnormality of thrombocytes Occasional [IBIS] 25288164 IBIS 20 / 7739
16
(HPO:0004365) Abnormality of tryptophan metabolism Occasional [IBIS] 25288164 IBIS 4 / 7739

Associated genes:

DUH1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes ...
Clinical Description OMIM Dyschromatosis universalis hereditaria, which occurs most commonly in Japanese, is characterized by pigmented flecks and spots over much of the body. It is distinct from dyschromatosis symmetrica hereditaria (DSH; 127400), which also occurs particularly in Japanese and Korean ...