Osteopetrosis, Autosomal Recessive 8; Optb8

Clinical Features

Top most frequent phenotypes and symptoms related to Osteopetrosis, Autosomal Recessive 8; Optb8

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly
  • Macrocephaly
  • Optic atrophy
  • Gait disturbance
  • Frontal bossing
  • Hypoplasia of the corpus callosum

And another 17 symptoms. If you need more information about this disease we can help you.

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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

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Osteopetrosis, Autosomal Recessive 8; Optb8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteopetrosis autosomal recessive 8 (sequence analysis of SNX10 gene).

By CGC Genetics (Portugal).

SNX10
Specificity
100 %
Genes
100 %
Osteopetrosis via SNX10 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SNX10
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 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

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

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Osteopetrosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

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

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %

We have 15 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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