Isolated Osteopoikilosis
Clinical Features
Phenotypes and symptoms related to Isolated Osteopoikilosis
- Short stature
- Microcephaly
- Skeletal dysplasia
- Subcutaneous nodule
- Ectopic kidney
- Generalized osteosclerosis
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Doctors, researchs, and experts related to Isolated Osteopoikilosis extracted from public data.
Isolated Osteopoikilosis Experts map
Current Researchs and researchers
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BRUSSELS — Pr Olivier DEVUYST
Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network
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Institution/s:
— Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
— Université Catholique de Louvain - UCL
— Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
— Universität Zürich -
Research area/topic::
EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
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Institution/s:
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BRUXELLES — Pr Olivier DEVUYST
Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network
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Institution/s:
— Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
— Université Catholique de Louvain - UCL
— Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
— Universität Zürich -
Research area/topic::
EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
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Institution/s:
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LAUSANNE — Pr Olivier DEVUYST
Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network
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Institution/s:
— Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
— Université Catholique de Louvain - UCL
— Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
— Universität Zürich -
Research area/topic::
EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
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Institution/s:
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ZÜRICH — Pr Olivier DEVUYST
Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network
-
Institution/s:
— Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
— Université Catholique de Louvain - UCL
— Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
— Universität Zürich -
Research area/topic::
EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
-
Institution/s:
Isolated Osteopoikilosis 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
100 % |
LEMD3 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
LEMD3
Specificity
100 %
Genes
100 % |
LEMD3 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
LEMD3
Specificity
100 %
Genes
100 % |
LEMD3 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
LEMD3
Specificity
100 %
Genes
100 % |
LEMD3 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
LEMD3
Specificity
100 %
Genes
100 % |
LEMD3. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
LEMD3
Specificity
100 %
Genes
100 % |
Buschke-Ollendorff syndrome (sequence analysis of LEMD3 gene).
By CGC Genetics (Portugal).
LEMD3
Specificity
100 %
Genes
100 % |
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)
View the complete list with 236 more genes
Specificity
1 %
Genes
100 % |
You can get up to 20 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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