Osteoporosis-pseudoglioma Syndrome

Description

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

Clinical Features

Top most frequent phenotypes and symptoms related to Osteoporosis-pseudoglioma Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Muscle weakness
  • Muscular hypotonia
  • Cataract
  • Visual impairment
  • Ventricular septal defect

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME have a estimated prevalence of 0.05 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Osteoporosis-pseudoglioma Syndrome Is also known as oppg, osteogenesis imperfecta, ocular form, ocular form of osteogenesis imperfecta, ops.

Researches and researchers

Doctors, researchs, and experts related to Osteoporosis-pseudoglioma Syndrome extracted from public data.

Osteoporosis-pseudoglioma Syndrome Experts map



Current Researchs and researchers

  • ANTWERPEN — Pr Wim VAN HUL

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Center for Medical Genetics - University Antwerp, University of Antwerp - UA
      — Center of Medical Genetics, Centrum Medische Genetica - UZA
    • Research area/topic::

      Evaluation of the role of LRP4 in the regulation of Wnt/Bcatenin dependent Wnt signalling and bone formation


  • ANTWERPEN-EDEGEM — Pr Wim VAN HUL

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Center for Medical Genetics - University Antwerp, University of Antwerp - UA
      — Center of Medical Genetics, Centrum Medische Genetica - UZA
    • Research area/topic::

      Evaluation of the role of LRP4 in the regulation of Wnt/Bcatenin dependent Wnt signalling and bone formation



Mendelian

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Osteoporosis-pseudoglioma Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
LRP5 (OPPG) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LRP5
Specificity
100 %
Genes
100 %
LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LRP5
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS).

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

DNAJB11, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD2, PKHD1, PRKCSH
Specificity
12 %
Genes
100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Osteoporosis Pseudoglioma Syndrome.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

LRP5
Specificity
100 %
Genes
100 %
Polycystic kidney and liver disease modifier panel.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

HNF1B, TSC1, TSC2, UMOD, DNAJB11, SEC61B, SEC61A1, SEC63, ALG8, DZIP1L, GANAB, LRP5, PKD1, PKD2, PKHD1, PRKCSH, REN
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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