dyskeratosis congenita, autosomal recessive 6
Findings
No curated finding names dyskeratosis congenita, autosomal recessive 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.
Definition from the Mondo Disease Ontology (MONDO:0014600), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bone marrow hypocellularityHPOHP:0005528
- 4 of 4 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Short telomere lengthHPOHP:0031413
- 3 of 3 reported patients
- Abnormal skin pigmentationHPOHP:0001000
- 3 of 4 reported patients
- Nail dystrophyHPOHP:0008404
Show the remaining 4
- Failure to thriveHPOHP:0001508
- 1 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 4 reported patients
- Sparse hairHPOHP:0008070
- 1 of 4 reported patients
- Spontaneous tooth lossHPOHP:0006480
- 1 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PARNHGNC:8609
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2016
Where it sits
- A kind of
Other names
4 names
Resolves to: dyskeratosis congenita, autosomal recessive 6
- Also called
- DKCB6dyskeratosis congenita caused by mutation in PARNdyskeratosis congenita, autosomal recessive type 6PARN dyskeratosis congenita