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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Investigator of research projectWIEN — Pr Regina GRILLARI
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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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Investigator of research projectLYON — Dr David KOUBI
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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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Responsible for diagnostic tests - Investigator of research projectBERLIN — Dr Uwe KORNAK
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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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Investigator of research project - Director of departmentBERLIN — Pr Thomas J. JENTSCH
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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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Investigator of research projectHAMBURG — Pr Thorsten SCHINKE
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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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Responsible for diagnostic tests - Investigator of research project - Director of laboratoryPAVIA — Pr Antonio ROSSI
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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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Investigator of research project - Coordinator of research networkMANCHESTER — Pr Michael BRIGGS
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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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Investigator of research project - Coordinator of research networkNEWCASTLE UPON TYNE — Pr Michael BRIGGS
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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 |
---|
![]() 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 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
CLCN7
Specificity
100 %
Genes
25 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
CLCN7
Specificity
100 %
Genes
25 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
CLCN7
Specificity
100 %
Genes
25 % |
![]() 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 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
CLCN7
Specificity
100 %
Genes
25 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
CLCN7
Specificity
100 %
Genes
25 % |
![]() 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 FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 UROFACIAL SYNDROME 1; UFS1 CAUDAL REGRESSION SEQUENCE CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29