Pigmentary disorder, reticulate, with systemic manifestations, X-linked

Preferred Label : Pigmentary disorder, reticulate, with systemic manifestations, X-linked;

Symbol : PDR;

CISMeF acronym : XLPDR; PDR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XLPDR;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the DNA polymerase, alpha-1 gene (POLA1, 312040.0001);

Laboratory abnormalities : Decreased IL-17A; Decreased gamma-interferon; Increased plasma interferon I signature; Increased IL-8;

Prefixed ID : #301220;

Details

Origin ID

301220;

UMLS CUI

C1845050;

Automatic exact mappings (from CISMeF team)
- Proliferative retinopathy due to diabetes mellitus (disorder) [SNOMED CT concept]
- X-linked reticulate pigmentary disorder [DO Concept]
- pigment disorder, reticulate [HGNC gene]
- proliferative diabetic retinopathy [DO Concept]
Currated CISMeF NLP mapping
- X-linked reticulate pigmentary disorder [ORDO Disease]
- X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) [SNOMED CT concept]
- pigmentary disorder, reticulate, with systemic manifestations [MeSH concept]
- pigmentary disorder, reticulate, with systemic manifestations [MeSH Supplementary Concept]
DO Cross reference
- X-linked reticulate pigmentary disorder [DO Concept]
Genes related to phenotype
- Dna polymerase alpha-1, catalytic subunit [OMIM gene]
HPO term(s)
- Broad eyebrow [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Chronic diarrhea [HPO term]
- Clubbing [HPO term]
- Colitis [HPO term]
- Corneal opacity [HPO term]
- Corneal scarring [HPO term]
- Cutaneous amyloidosis [HPO term]
- Cutis marmorata [HPO term]
- Failure to thrive in infancy [HPO term]
- Failure to thrive in male infants [HPO term]
- Frontal upsweep of hair [HPO term]
- Generalized reticulate brown pigmentation [HPO term]
- Global developmental delay [HPO term]
- Hyperkeratosis [HPO term]
- Hypohidrosis [HPO term]
- Intellectual disability [HPO term]
- Photophobia [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced circulating interferon gamma [HPO term]
- Reticular hyperpigmentation [HPO term]
- Urethral stricture [HPO term]
- Visual impairment [HPO term]
- Visual loss [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked reticulate pigmentary disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked reticulate pigmentary disorder [DO Concept]
- X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) [SNOMED CT concept]
- pigmentary disorder, reticulate, with systemic manifestations [MeSH Supplementary Concept]
- pigmentary disorder, reticulate, with systemic manifestations [MeSH concept]

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