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Dyschromatosis symmetrica hereditaria
1 OMIM reference -
1 associated gene
22 connected diseases
5 signs/symptoms
Disease Type of connection
Aicardi-Goutières syndrome
Familial infantile bilateral striatal necrosis
Amyotrophic lateral sclerosis
Peters anomaly
Familial multinodular goiter
Ovarian malignant Sertoli-Leydig cell tumor
Pleuropulmonary blastoma family tumor susceptibility syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Peripheral primitive neuroectodermal tumor
17q11 microdeletion syndrome
Angelman syndrome
Frontotemporal dementia with motor neuron disease
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Pseudohypoaldosteronism type 2E
Weaver syndrome
Wolf-Hirschhorn syndrome
Synonym(s):
- Acropigmentation of Dohi

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C535729

Gene symbol UniProt reference OMIM reference
ADAR P55265146920
Very frequent
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Macules

Frequent
- Autosomal recessive inheritance
- Dystonia / torticollis / writer's cramp / blepharospasms