Autosomal Recessive Malignant Osteopetrosis

Description

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Malignant Osteopetrosis

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus
  • Anemia
  • Visual impairment
  • Hepatomegaly
  • Optic atrophy
  • Macrocephaly

And another 44 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS have a estimated birth prevalence of 0.75 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Malignant Osteopetrosis Is also known as infantile malignant osteopetrosis, osteopetrosis, infantile malignant 2.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Recessive Malignant Osteopetrosis extracted from public data.

Autosomal Recessive Malignant Osteopetrosis Experts map



Current Researchs and researchers

  • WIEN — Pr Regina GRILLARI

    Investigator of research project

    • Institution/s:
      — Evercyte GmbH
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - AT


  • LYON — Dr David KOUBI

    Investigator of research project

    • Institution/s:
      — FINOVATIS
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - FR


  • BERLIN — Dr Uwe KORNAK

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Charité - Universitätsmedizin Berlin (CVK)
      — Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin (CVK)
    • Research area/topic::

      SYBIL-Systems biology for the functional validation of genetic determinants of skeletal diseases -DE-


  • BERLIN — Pr Thomas J. JENTSCH

    Investigator of research project - Director of department

    • Institution/s:
      — Leibniz-Institut für Molekulare Pharmakologie
      — Leibniz-Institut für Molekulare Pharmakologie
    • Research area/topic::

      The CIC-7/Ostm1 chlorid transporter in lysosomes and osteoclasts


  • HAMBURG — Pr Thorsten SCHINKE

    Investigator of research project

    • Institution/s:
      — IOBM - Universitätsklinikum Hamburg-Eppendorf
    • Research area/topic::

      SYBIL-Systems biology for the functional validation of genetic determinants of skeletal diseases -DE-


  • PAVIA — Pr Antonio ROSSI

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

    • Institution/s:
      — Dipartimento di Medicina Molecolare, Università degli Studi di Pavia - Biochimica '' A. Castellani''
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - IT


  • MANCHESTER — Pr Michael BRIGGS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Faculty of of Life Sciences - University of Manchester
      — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK


  • NEWCASTLE UPON TYNE — Pr Michael BRIGGS

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Faculty of of Life Sciences - University of Manchester
      — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
    • Research area/topic::

      SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - UK


Autosomal Recessive Malignant Osteopetrosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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
75 %
CLCN7 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CLCN7
Specificity
100 %
Genes
25 %
CLCN7 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CLCN7
Specificity
100 %
Genes
25 %
CLCN7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CLCN7
Specificity
100 %
Genes
25 %
CLCN7 Sequencing.

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

CLCN7
Specificity
100 %
Genes
25 %
CLCN7. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CLCN7
Specificity
100 %
Genes
25 %
CLCN7. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CLCN7
Specificity
100 %
Genes
25 %
Osteopetrosis (sequence analysis of CLCN7 gene).

By CGC Genetics (Portugal).

CLCN7
Specificity
100 %
Genes
25 %

You can get up to 85 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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