PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1

General Information (adopted from Orphanet):

Synonyms, Signs: PFBMFT1
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614742
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001394) Cirrhosis rare [HPO:skoehler] 102 / 7739
2
(HPO:0002216) Premature graying of hair 43 / 7739
3
(HPO:0001915) Aplastic anemia 16 / 7739
4
(HPO:0005528) Bone marrow hypocellularity 31 / 7739
5
(HPO:0001876) Pancytopenia 89 / 7739
6
(HPO:0001909) Leukemia 46 / 7739
7
(HPO:0002206) Pulmonary fibrosis 51 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(HPO:0003581) Adult onset 117 / 7739
10
(OMIM) Increased risk for hematologic cancer, particularly acute myeloid leukemia 2 / 7739
11
(OMIM) Decreased telomere length in lymphocytes 2 / 7739
12
(OMIM) Increased risk for cancer 3 / 7739
13
(OMIM) Increased risk for myelodysplastic syndrome 2 / 7739
14
(HPO:0003829) Incomplete penetrance 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Shortened telomeres can cause a wide variety of clinical features that constitute a phenotypic spectrum. The most severe form is dyskeratosis congenita (see, e.g., 127750), characterized by early childhood onset of skin abnormalities, bone marrow failure, predisposition to ...
Clinical Description OMIM Yamaguchi et al. (2005) reported 7 unrelated patients with aplastic anemia who had heterozygous germline mutations in the TERT gene (187270.0001-187270.0005). The patients ranged in age from 31 to 75 years. Bone marrow showed low cellularity, and patient ...
Molecular genetics OMIM Because mutations had been found in the TERC gene in families with aplastic anemia (Vulliamy et al., 2002), Yamaguchi et al. (2005) screened blood or bone marrow cells from 124 patients with apparently acquired aplastic anemia for mutations ...
Population genetics OMIM Alder et al. (2011) identified a founder mutation in the TERT gene (187270.0017) in affected members from 2 families with telomere-related pulmonary fibrosis-1. A common ancestor had emigrated from the British Isles to the United States in the ...