Osteopetrosis And Infantile Neuroaxonal Dystrophy

Description

This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.

Clinical Features

Phenotypes and symptoms related to Osteopetrosis And Infantile Neuroaxonal Dystrophy

  • Abnormality of the skeletal system
  • Abnormality of metabolism/homeostasis
  • Cerebral atrophy
  • Agenesis of corpus callosum
  • Osteopetrosis

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Osteopetrosis And Infantile Neuroaxonal Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
OSTM1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OSTM1
Specificity
100 %
Genes
100 %
OSTM1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OSTM1
Specificity
100 %
Genes
100 %
OSTM1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OSTM1
Specificity
100 %
Genes
100 %
OSTM1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

OSTM1
Specificity
100 %
Genes
100 %
OSTM1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis, autosomal recessive 5 (sequence analysis of OSTM1 gene).

By CGC Genetics in Portugal.

OSTM1
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Osteopetrosis via OSTM1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis core NGS panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
34 %
Genes
100 %
Osteopetrosis core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
34 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
34 %
Genes
100 %
Osteopetrosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis NGS panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
100 %
Osteopetrosis, autosomal recessive 5 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis, autosomal recessive 5 Comprehensive test.

By Connective Tissue Gene Tests in United States.

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis, autosomal recessive 5 NGS test.

By Connective Tissue Gene Tests in United States.

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis autosomal recessive type 5.

By Centogene AG - the Rare Disease Company in Germany.

OSTM1
Specificity
100 %
Genes
100 %
Skeletal dysplasia with increased bone density Panel.

By CeGaT GmbH in Germany.

ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
OSTEOPETROSIS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LRP5, TNFRSF11A, CLCN7, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
13 %
Genes
100 %
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, CTSK, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, FERMT3, TBXAS1, LRP4, GALNT3, HPGD , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
OSTM1.

By Fulgent Genetics Fulgent Genetics in United States.

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis and Dense Bone Dysplasia Panel.

By Blueprint Genetics in Finland.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Osteopetrosis, autosomal recessive 5.

By Bioarray in Spain.

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
12 %
Genes
100 %
OSTM1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

OSTM1
Specificity
100 %
Genes
100 %
OSTEOPETROSIS, AUTOSOMAL RECESSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
13 %
Genes
100 %
Autosomal Recessive Malignant Osteopetrosis Type 5 , Sequencing OSTM1 Gene.

By Reference Laboratory Genetics in Spain.

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
12 %
Genes
100 %


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