Dyskeratosis Congenita, Autosomal Recessive 6; Dkcb6

Description

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Dyskeratosis Congenita, Autosomal Recessive 6; Dkcb6

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Low-set ears

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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Dyskeratosis Congenita, Autosomal Recessive 6; Dkcb6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel.

By Genetic Services Laboratory University of Chicago (United States).

TERC, TERT, TINF2, NHP2, NOP10, RTEL1, POT1, ACD, NAF1, WRAP53, USB1, CTC1, DKC1, PARN
Specificity
8 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TERC, TERT, TINF2, NHP2, NOP10, RTEL1, WRAP53, CTC1, DKC1, PARN
Specificity
10 %
Genes
100 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, HPS4, RTEL1, CFTR, CSF2RB, FLCN, DKC1, ABCA3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Dyskeratosis Congenita (DC) via PARN Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PARN
Specificity
100 %
Genes
100 %

We have 18 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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VENTRICULAR SEPTAL DEFECT 3; VSD3 SEPTO-OPTIC DYSPLASIA SPECTRUM MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5 MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 OMENN SYNDROME MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE KEPPEN-LUBINSKY SYNDROME; KPLBS

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