Osteopetrosis, Autosomal Recessive 5; Optb5

Description

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

Clinical Features

Top most frequent phenotypes and symptoms related to Osteopetrosis, Autosomal Recessive 5; Optb5

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia
  • Visual impairment
  • Optic atrophy
  • Ventriculomegaly
  • Hydrocephalus
  • Blindness

And another 25 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.

Alternative names

Osteopetrosis, Autosomal Recessive 5; Optb5 Is also known as osteopetrosis, infantile malignant 3.

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.

Osteopetrosis, Autosomal Recessive 5; Optb5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
OSTM1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

OSTM1
Specificity
100 %
Genes
100 %
OSTM1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

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

By CGC Genetics (Portugal).

OSTM1
Specificity
100 %
Genes
100 %
Osteopetrosis via OSTM1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

OSTM1
Specificity
100 %
Genes
100 %

You can get up to 30 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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