Osteogenesis Imperfecta, Type Xii; Oi12

Description

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Osteogenesis Imperfecta, Type Xii; Oi12

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • High palate
  • Depressed nasal bridge
  • Motor delay
  • Malar flattening
  • Midface retrusion

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Osteogenesis Imperfecta, Type Xii; Oi12 Is also known as oi, type xii.

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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Osteogenesis Imperfecta, Type Xii; Oi12 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 %
SP7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SP7
Specificity
100 %
Genes
100 %
SP7 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SP7
Specificity
100 %
Genes
100 %
SP7 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SP7
Specificity
100 %
Genes
100 %
SP7 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SP7
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...)

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

We have 34 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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