PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2

General Information (adopted from Orphanet):

Synonyms, Signs: PFBMFT2
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614743
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:0001909) Leukemia 46 / 7739
6
(HPO:0001876) Pancytopenia 89 / 7739
7
(HPO:0002206) Pulmonary fibrosis 51 / 7739
8
(HPO:0003581) Adult onset 117 / 7739
9
(OMIM) Increased risk for hematologic cancer, particularly acute myeloid leukemia 2 / 7739
10
(OMIM) Increased risk for cancer 3 / 7739
11
(OMIM) Increased risk for myelodysplastic syndrome 2 / 7739
12
(HPO:0003829) Incomplete penetrance 85 / 7739
13
(OMIM) Decreased telomere length in lymphocytes 2 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vulliamy et al. (2002) reported 5 unrelated patients with telomere-related bone marrow failure-2 causing aplastic anemia. Four patients were adults and ranged in age between 22 and 53 years, and 1 was a 5-year-old child. The patients were ...
Molecular genetics OMIM Ball et al. (1998) found that patients with idiopathic aplastic anemia have shorter telomeres than normal controls. Because patients with the very rare autosomal dominant form of dyskeratosis congenita (127550), which is caused by mutation in the TERC ...