Pseudoxanthoma Elasticum-like Skin Manifestations With Retinitis Pigmentosa

Clinical Features

Top most frequent phenotypes and symptoms related to Pseudoxanthoma Elasticum-like Skin Manifestations With Retinitis Pigmentosa

  • Strabismus
  • Rod-cone dystrophy
  • Nyctalopia
  • Papule
  • Cutis laxa
  • Redundant skin
  • Attenuation of retinal blood vessels
  • Abnormality of the optic nerve
  • Abnormal fundus morphology
  • Increased number of skin folds

And another 1 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

Pseudoxanthoma Elasticum-like Skin Manifestations With Retinitis Pigmentosa Is also known as pxe-like syndrome with retinitis pigmentosa.

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.


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Pseudoxanthoma Elasticum-like Skin Manifestations With Retinitis Pigmentosa Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
GGCX Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

GGCX
Specificity
100 %
Genes
100 %
GGCX mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

GGCX
Specificity
100 %
Genes
100 %
Hereditary combined deficiency of vitamin K-dependent clotting factors (sequence analysis of GGCX gene).

By CGC Genetics (Portugal).

GGCX
Specificity
100 %
Genes
100 %
Vitamin k-dependent clotting factors, combined deficiency of, 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

GGCX
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

VWF, MCFD2, VKORC1, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, LMAN1, SERPINE1, SERPINF2
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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