Autosomal Recessive Malignant Osteopetrosis
Description
Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.
Genes related to Autosomal Recessive Malignant Osteopetrosis
- CLCN7
- TCIRG1
- TNFSF11
- SNX10
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.
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
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WIEN — Pr Regina GRILLARI
Investigator of research project
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Institution/s:
— Evercyte GmbH -
Research area/topic::
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - AT
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Institution/s:
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LYON — Dr David KOUBI
Investigator of research project
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Institution/s:
— FINOVATIS -
Research area/topic::
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - FR
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Institution/s:
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BERLIN — Dr Uwe KORNAK
Responsible for diagnostic tests - Investigator of research project
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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-
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Institution/s:
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BERLIN — Pr Thomas J. JENTSCH
Investigator of research project - Director of department
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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
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Institution/s:
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HAMBURG — Pr Thorsten SCHINKE
Investigator of research project
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Institution/s:
— IOBM - Universitätsklinikum Hamburg-Eppendorf -
Research area/topic::
SYBIL-Systems biology for the functional validation of genetic determinants of skeletal diseases -DE-
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Institution/s:
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PAVIA — Pr Antonio ROSSI
Responsible for diagnostic tests - Investigator of research project - Director of laboratory
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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
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Institution/s:
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MANCHESTER — Pr Michael BRIGGS
Investigator of research project - Coordinator of research network
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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
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Institution/s:
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NEWCASTLE UPON TYNE — Pr Michael BRIGGS
Investigator of research project - Coordinator of research network
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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
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Institution/s:
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 moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO UROFACIAL SYNDROME 1; UFS1 CAUDAL REGRESSION SEQUENCE ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 WISKOTT-ALDRICH SYNDROME 2; WAS2