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 project
 WIEN — 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:
 - 
Investigator of research project
 LYON — Dr David KOUBI 
- 
Institution/s:
— FINOVATIS - 
Research area/topic::
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases - FR
 
 - 
Institution/s:
 - 
Responsible for diagnostic tests - Investigator of research project
 BERLIN — Dr Uwe KORNAK 
- 
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-
 
 - 
Institution/s:
 - 
Investigator of research project - Director of department
 BERLIN — Pr Thomas J. JENTSCH 
- 
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
 
 - 
Institution/s:
 - 
Investigator of research project
 HAMBURG — Pr Thorsten SCHINKE 
- 
Institution/s:
— IOBM - Universitätsklinikum Hamburg-Eppendorf - 
Research area/topic::
SYBIL-Systems biology for the functional validation of genetic determinants of skeletal diseases -DE-
 
 - 
Institution/s:
 - 
Responsible for diagnostic tests - Investigator of research project - Director of laboratory
 PAVIA — Pr Antonio ROSSI 
- 
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
 
 - 
Institution/s:
 - 
Investigator of research project - Coordinator of research network
 MANCHESTER — Pr Michael BRIGGS 
- 
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
 
 - 
Institution/s:
 - 
Investigator of research project - Coordinator of research network
 NEWCASTLE UPON TYNE — Pr Michael BRIGGS 
- 
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
 
 - 
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 Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like METHYLMALONYL-CoA EPIMERASE DEFICIENCY HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2
	MitoMet®Plus aCGH Analysis.
	CLCN7. Complete sequencing.
	Osteopetrosis (sequence analysis of CLCN7 gene).