pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
MONDO:0957263Mondo
Findings
No curated finding names pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
18 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.
- CholecystitisHPOHP:0001082
- 1 of 1 reported patient
- ClubbingHPOHP:0001217
- 5 of 5 reported patients
- Decreased DLCOHPOHP:0045051
- 3 of 3 reported patients
- DyspneaHPOHP:0002094
- 2 of 2 reported patients
- Esophageal varixHPOHP:0002040
- 1 of 1 reported patient
- Gastric varixHPOHP:0030169
- 1 of 1 reported patient
- Hepatic failureHPOHP:0001399
- 1 of 1 reported patient
- Increased mean corpuscular volumeHPOHP:0005518
- 1 of 1 reported patient
- Inspiratory cracklesHPOHP:0031996
- 4 of 4 reported patients
- Nodular regenerative hyperplasia of liverHPOHP:0011954
- 1 of 1 reported patient
- Nonproductive coughHPOHP:0031246
- 1 of 1 reported patient
- Portal hypertensionHPOHP:0001409
- 1 of 1 reported patient
Show the remaining 6
- Premature graying of hairHPOHP:0002216
- 1 of 1 reported patient
- Pulmonary fibrosisHPOHP:0002206
- 2 of 2 reported patients
- Short telomere lengthHPOHP:0031413
- 4 of 4 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 2 of 2 reported patients
- Usual interstitial pneumoniaHPOHP:0031950
- 4 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.
- POT1HGNC:17284
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Limited · Ambry Genetics · Autosomal dominant · 2024