1. Mendelian
  2. Rare Diseases
  3. DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14

Diamond-blackfan Anemia 14 With Mandibulofacial Dysostosis; Dba14

Table of contents:

Genes related to Diamond-blackfan Anemia 14 With Mandibulofacial Dysostosis; Dba14

  • TSR2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Diamond-blackfan Anemia 14 With Mandibulofacial Dysostosis; Dba14

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia
  • Downslanted palpebral fissures
  • Midface retrusion
  • Conductive hearing impairment
  • Microtia
  • Sparse eyelashes

And another 3 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Diamond-blackfan Anemia 14 With Mandibulofacial Dysostosis; Dba14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Diamond-Blackfan anemia (NGS panel of 18 genes).

By CGC Genetics (Portugal).

RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1
Specificity
6 %
Genes
100 %
Diamond-Blackfan anemia (NGS panel of 18 genes).

By CGC Genetics (Portugal).

RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1
Specificity
6 %
Genes
100 %
Diamond-Blackfan anemia NGS panel.

By Connective Tissue Gene Tests (United States).

RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1
Specificity
6 %
Genes
100 %
Diamond-Blackfan anemia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1
Specificity
6 %
Genes
100 %
Diamond-Blackfan anemia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2, GATA1
Specificity
6 %
Genes
100 %
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis.

By Centogene AG - the Rare Disease Company (Germany).

TSR2
Specificity
100 %
Genes
100 %
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis.

By Centogene AG - the Rare Disease Company (Germany).

TSR2
Specificity
100 %
Genes
100 %
NGS Panel for Diamond-Blackfan Anemia.

By BLOODGENETICS BLOODGENETICS (Spain).

RPL11, RPL15, RPL19, RPL26, RPL27, RPL31, RPL35A, RPL5, RPL9, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

You can get up to 1 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1 MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE COHEN SYNDROME; COH1 PORPHYRIA CUTANEA TARDA AMELOGENESIS IMPERFECTA-GINGIVAL HYPERPLASIA SYNDROME CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 GALACTOSEMIA