1. Mendelian
  2. Rare Diseases
  3. PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-linked; Pdr

Table of contents:

Description

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

Genes related to Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-linked; Pdr

  • ARX
  • POLA1

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Clinical Features

Top most frequent phenotypes and symptoms related to Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-linked; Pdr

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment
  • Dysarthria
  • Gait disturbance
  • Blindness
  • Diarrhea
  • Dystonia

And another 33 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-linked; Pdr Is also known as xlpdr.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-linked; Pdr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARX Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARX
Specificity
100 %
Genes
50 %
ARX Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARX
Specificity
100 %
Genes
50 %
ARX Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ARX
Specificity
100 %
Genes
50 %
ARX Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARX
Specificity
100 %
Genes
50 %
ARX Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

ARX
Specificity
100 %
Genes
50 %
ARX Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ARX
Specificity
100 %
Genes
50 %
ARX Sequencing and CNV Evaluation (Epilepsy).

By Athena Diagnostics Inc (United States).

ARX
Specificity
100 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc (United States).

SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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