Table 2.

Syndromes in which Pulmonary Fibrosis is a Common Feature: Genes and Distinguishing Clinical Features

Gene(s)DisorderMOIPulmonary PhenotypeOther Clinical & Laboratory Features
ACD
CTC1
DKC1
NAF1
NHP2
NOP10
PARN
RTEL1
STN1
TERC
TERT
TINF2
WRAP53
ZCCHC8 		Dyskeratosis congenita and related telomere biology disorders (DC/TBD)XL
AR
AD		PF may be a presenting sign or may develop over time. Note: Some genes assoc w/DC may cause PF w/o other features of DC (see Table 1).Variable: skin reticular pigmentation, nail dystrophy, oral mucosal leukoplakia, premature graying of hair, bone marrow failure, myelodysplastic syndrome, acute myelogenous leukemia, liver cirrhosis, immunodeficiency, gastrointestinal disease, radiation sensitivity, infertility, shortened telomere length
AP3B1
HPS1
HPS4 1		Hermansky-Pudlak syndrome (HPS)AROnset of PF is typically in 4th decade & fatal w/in 10 yrs; PF is most common in HPS1-related HPS.Tyrosinase-positive oculocutaneous albinism; bleeding diathesis resulting from a platelet storage pool deficiency
FAM111B Hereditary fibrosing poikiloderma w/tendon contractures, myopathy, & pulmonary fibrosis AD± adult-onset progressive PF, can be life threateningEarly-onset poikiloderma, hypotrichosis, hypohidrosis, mild lymphedema, multiple contractures, myopathy, scoliosis, exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; PF = pulmonary fibrosis; XL = X-linked

1.

To date, convincing evidence of pulmonary fibrosis has not been reported in affected individuals with pathogenic variants in other HPS-related genes.

From: Pulmonary Fibrosis Predisposition Overview

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