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Dowling-Degos disease
4 OMIM references -
3 associated genes
67 connected diseases
No signs/symptoms info
Disease Type of connection
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Epidermolysis bullosa simplex with circinate migratory erythema
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Keratosis palmoplantaris striata
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Congenital analbuminemia
EEC syndrome
Fibronectin glomerulopathy
Limb-mammary syndrome
Split hand-split foot malformation
Autosomal recessive epidermolysis bullosa simplex
Dermatopathia pigmentosa reticularis
Naegeli-Franceschetti-Jadassohn syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Spinocerebellar ataxia type 12
X-linked agammaglobulinemia
Congenital non-bullous ichthyosiform erythroderma
Lamellar ichthyosis
Self-healing collodion baby
APC-related attenuated familial adenomatous polyposis
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Dedifferentiated liposarcoma
Desmoid tumor
Epidermolysis bullosa simplex due to plakophilin deficiency
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial partial lipodystrophy due to AKT2 mutations
Gardner syndrome
Giant cell glioblastoma
Gliosarcoma
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Juvenile myelomonocytic leukemia
Leber congenital amaurosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Opsismodysplasia
Pseudohypoaldosteronism type 2E
Richieri Costa-Pereira syndrome
Senior-Loken syndrome
Turcot syndrome with polyposis
Well-differentiated liposarcoma
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Idiopathic pulmonary fibrosis
Lethal acantholytic epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Ichthyosis hystrix of Curth-Macklin
Tetralogy of Fallot
Familial glucocorticoid deficiency
Meesmann corneal dystrophy
Synonym(s):
- Reticular pigment anomaly of flexures
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
KRT5 P13647148040
POFUT1 Q9H488607491
POGLUT1 Q8NBL1615618
No signs/symptoms info available.