MCID: PLM085
MIFTS: 44

Pulmonary Hemosiderosis

Categories: Rare diseases, Respiratory diseases, Metabolic diseases

Aliases & Classifications for Pulmonary Hemosiderosis

MalaCards integrated aliases for Pulmonary Hemosiderosis:

Name: Pulmonary Hemosiderosis 12 50 14
Idiopathic Pulmonary Hemosiderosis 12 50 56 42 69
Alveolar Hypoventilation Syndrome 50 69
Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin 50
Brown Induration 12
Byssinosis 69
Brown Lung 12

Characteristics:

Orphanet epidemiological data:

56
idiopathic pulmonary hemosiderosis
Prevalence: <1/1000000 (Europe); Age of onset: Childhood;

HPO:

32

Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:12118
ICD10 33 J84.03
ICD9CM 35 516.1
MeSH 42 C536281
SNOMED-CT 64 190848001 40527005
Orphanet 56 ORPHA99931
MESH via Orphanet 43 C536281
UMLS via Orphanet 70 C0020807
ICD10 via Orphanet 34 E83.1+ J99.8*
UMLS 69 C0020807

Summaries for Pulmonary Hemosiderosis

NIH Rare Diseases : 50 idiopathic pulmonary hemosiderosis is a rare disease characterized by repeated episodes of bleeding into the lungs, which can cause anemia and lung disease. the body is able to remove most of the blood from the lungs, but a large amount of iron is left behind. over time, this iron can cause permanent damage to the lungs (fibrosis). symptoms can resemble pneumonia and include coughing, coughing up blood (hemoptysis), difficulty breathing, and wheezing.  the cause of idiopathic pulmonary hemosiderosis is unknown. diagnosis is based on ruling out other kinds of pulmonary hemosiderosis, and tests may include imaging, laboratory tests, and a lung biopsy. treatment often includes corticosteroids or other immunosuppressive medications. the prognosis may vary depending on the amount of pulmonary bleeding and age of diagnosis.  last updated: 9/5/2017

MalaCards based summary : Pulmonary Hemosiderosis, also known as idiopathic pulmonary hemosiderosis, is related to rheumatic heart disease and immune-complex glomerulonephritis, and has symptoms including respiratory insufficiency, hemoptysis and pulmonary fibrosis. An important gene associated with Pulmonary Hemosiderosis is MIF (Macrophage Migration Inhibitory Factor (Glycosylation-Inhibiting Factor)), and among its related pathways/superpathways is C-MYB transcription factor network. Affiliated tissues include lung, testes and heart, and related phenotypes are cellular and hematopoietic system

Disease Ontology : 12 A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h.

Related Diseases for Pulmonary Hemosiderosis

Diseases in the Pulmonary Hemosiderosis family:

Secondary Pulmonary Hemosiderosis

Diseases related to Pulmonary Hemosiderosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 191)
id Related Disease Score Top Affiliating Genes
1 rheumatic heart disease 30.1 CD40LG CD79A PRTN3
2 immune-complex glomerulonephritis 30.0 CD40LG CD79A LYZ
3 lymphoma 29.8 CD40LG CD79A PRTN3
4 secondary pulmonary hemosiderosis 12.1
5 idiopathic alveolar hypoventilation syndrome 12.0
6 central hypoventilation syndrome, congenital 11.2
7 bone giant cell tumor 10.9 KRT7 TP63
8 alcoholic neuropathy 10.8 CD40LG CD79A
9 calloso-genital dysplasia 10.8 CD40LG CD79A
10 variola major 10.8 CD40LG CD79A
11 mu chain disease 10.8 CD40LG CD79A
12 rabies 10.8 CD40LG CD79A
13 familial retinoblastoma 10.8 CD40LG CD79A
14 anti-basement membrane glomerulonephritis 10.8 CD40LG CD79A
15 microinvasive cervical squamous cell carcinoma 10.8 CD40LG CD79A
16 fetal erythroblastosis 10.8 CD40LG CD79A
17 spinal canal and spinal cord meningioma 10.8 CD40LG CD79A
18 trichostrongyloidiasis 10.8 CD40LG CD79A
19 leukodystrophy 10.8 CD40LG CD79A
20 retinal microaneurysm 10.8 CD40LG CD79A
21 heart septal defect 10.8 CD40LG CD79A
22 cryptorchidism arachnodactyly mental retardation 10.8 CD40LG CD79A
23 acute kidney tubular necrosis 10.8 CD40LG CD79A
24 hemosiderosis 10.8
25 secretory meningioma 10.8 CD40LG CD79A
26 hodgkin's lymphoma, nodular sclerosis 10.8 CD40LG CD79A
27 dermochondrocorneal dystrophy 10.8 CD79A TP63
28 imperforate oropharynx-costo vetebral anomalies 10.8 CD40LG CD79A
29 transient hypogammaglobulinemia 10.8 CD40LG CD79A
30 benign epilepsy with centrotemporal spikes 10.8 CD40LG CD79A
31 tongue cancer 10.8 CD40LG CD79A
32 hydrops of gallbladder 10.8 CD40LG CD79A
33 gamma heavy chain disease 10.8 CD40LG CD79A
34 diabetic angiopathy 10.8 CD40LG CD79A
35 rosacea conjunctivitis 10.8 CD40LG CD79A
36 combined thymoma 10.8 CD79A MUC5B
37 viral meningitis 10.8 CD40LG CD79A
38 heart fibrosarcoma 10.8 CD40LG CD79A
39 alopecia areata 10.8 CD40LG CD79A
40 right bundle branch block 10.8 CD79A F7
41 kidney carcinoma in situ 10.7 CD40LG CD79A
42 cardiac tuberculosis 10.7 CD40LG CD79A
43 dumping syndrome 10.7 CD40LG CD79A
44 leiomyosarcoma 10.7 CD40LG CD79A
45 periarthritis 10.7 CD40LG CD79A
46 byssinosis 10.7
47 generalized atherosclerosis 10.7 CD40LG CD79A
48 cerebral neuroblastoma 10.7 CD40LG CD79A
49 pancreatic vasoactive intestinal peptide producing tumor 10.7 CD40LG CD79A
50 unilateral hypoactive labyrinth 10.7 CD79A LYZ

Comorbidity relations with Pulmonary Hemosiderosis via Phenotypic Disease Network (PDN):


Iron Metabolism Disease

Graphical network of the top 20 diseases related to Pulmonary Hemosiderosis:



Diseases related to Pulmonary Hemosiderosis

Symptoms & Phenotypes for Pulmonary Hemosiderosis

Human phenotypes related to Pulmonary Hemosiderosis:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 hemoptysis 32 HP:0002105
3 pulmonary fibrosis 32 HP:0002206
4 iga deficiency 32 HP:0002720
5 iron deficiency anemia 32 HP:0001891
6 recurrent intrapulmonary hemorrhage 32 HP:0006535
7 abnormality of the respiratory system 32 HP:0002086
8 transient pulmonary infiltrates 32 HP:0005828

UMLS symptoms related to Pulmonary Hemosiderosis:


hemoptysis

MGI Mouse Phenotypes related to Pulmonary Hemosiderosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 CD40LG CD79A EHD1 KRT7 LYZ MIF
2 hematopoietic system MP:0005397 10.07 EHD1 LYZ MIF MPO MUC5B PRTN3
3 homeostasis/metabolism MP:0005376 10.06 CD40LG CD79A EHD1 F7 KRT7 LYZ
4 immune system MP:0005387 9.91 LYZ MIF MPO MUC5B PRTN3 TET2
5 no phenotypic analysis MP:0003012 9.7 CD79A EHD1 F7 LYZ PRTN3 TET2
6 normal MP:0002873 9.5 F7 LYZ MIF TET2 TP63 CD79A
7 renal/urinary system MP:0005367 9.1 CD40LG CD79A KRT7 LYZ TET2 TP63

Drugs & Therapeutics for Pulmonary Hemosiderosis

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood Unknown status NCT00652964
2 Efficacy of Bone Marrow Mesenchymal Stem Cell in Pulmonary Hemosiderosis Not yet recruiting NCT02985346 Early Phase 1

Search NIH Clinical Center for Pulmonary Hemosiderosis

Cochrane evidence based reviews: idiopathic pulmonary hemosiderosis

Genetic Tests for Pulmonary Hemosiderosis

Anatomical Context for Pulmonary Hemosiderosis

MalaCards organs/tissues related to Pulmonary Hemosiderosis:

39
Lung, Testes, Heart, Bone, Bone Marrow, Kidney, T Cells

Publications for Pulmonary Hemosiderosis

Articles related to Pulmonary Hemosiderosis:

(show top 50) (show all 242)
id Title Authors Year
1
Welder's pulmonary hemosiderosis associated with systemic iron overload following exacerbation of acute adult T-cell leukemia/lymphoma. ( 28883221 )
2017
2
Methylprednisolone pulse therapy rescued life-threatening pulmonary hemorrhage due to idiopathic pulmonary hemosiderosis. ( 28784257 )
2017
3
Idiopathic Pulmonary Hemosiderosis Mimicking Iron Deficiency Anemia: A Delayed Diagnosis? ( 28670434 )
2017
4
A Case of Idiopathic Pulmonary Hemosiderosis Presenting With Signs and Symptoms Mimicking Hemolytic Anemia. ( 27918350 )
2017
5
Corticosteroid in combination with leflunomide and mesenchymal stem cells for treatment of pediatric idiopathic pulmonary hemosiderosis. ( 28158572 )
2017
6
Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis. ( 28251009 )
2017
7
Idiopathic pulmonary hemosiderosis: Hemorrhagic flare after 6 years of remission. ( 28844597 )
2017
8
Cor triatriatum sinister: a rare underlying cause of pulmonary hemosiderosis. ( 27026847 )
2016
9
Unusual presentation: Concurrent IgA deficiency and idiopathic pulmonary hemosiderosis. ( 27120139 )
2016
10
Helicobacter pylori Associated With Pulmonary Hemosiderosis. ( 26741588 )
2016
11
Idiopathic Pulmonary Hemosiderosis With Allergic Asthma Diagnosis in a Pediatric Patient. ( 26241728 )
2015
12
A young man with hemoptysis: Rare association of idiopathic pulmonary hemosiderosis, celiac disease and dilated cardiomyopathy. ( 25624603 )
2015
13
Idiopathic Pulmonary Hemosiderosis Presenting as Anemia, Failure to Thrive, and Jaundice in a Toddler. ( 26414632 )
2015
14
Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome. ( 26495097 )
2015
15
Idiopathic pulmonary hemosiderosis in adults: Review of cases reported in the latest 15 years. ( 26692115 )
2015
16
Idiopathic pulmonary hemosiderosis complicated by Down syndrome. ( 26508184 )
2015
17
A physician survey reveals differences in management of idiopathic pulmonary hemosiderosis. ( 26289251 )
2015
18
Unexplained childhood anaemia: idiopathic pulmonary hemosiderosis. ( 25904566 )
2015
19
Pulmonary Hemosiderosis Associated To Celiac Disease: Lane Hamilton Syndrome. ( 25944220 )
2015
20
Idiopathic pulmonary hemosiderosis presenting in an adult: A case report and review of the literature. ( 26180395 )
2015
21
Neonatal pulmonary hemosiderosis. ( 25389504 )
2014
22
Idiopathic pulmonary hemosiderosis - a diagnostic challenge. ( 24708654 )
2014
23
Pulmonary hemosiderosis in children with bronchopulmonary dysplasia. ( 25309768 )
2014
24
Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis. ( 23812505 )
2013
25
Extracorporeal life support for a 5-week-old infant with idiopathic pulmonary hemosiderosis. ( 23942745 )
2013
26
Melioidosis and idiopathic pulmonary hemosiderosis: a cast-iron case. ( 25473541 )
2013
27
Idiopathic pulmonary hemosiderosis presenting as a rare cause of iron deficiency anemia in a toddler--a diagnostic challenge. ( 23550400 )
2013
28
New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(Ar) cohort. ( 24125570 )
2013
29
The importance of evaluation of Celiac disease in patients with pulmonary hemosiderosis. ( 23550401 )
2013
30
Child with idiopathic pulmonary hemosiderosis: a case report from Pakistan with multiple ethical and moral issues. ( 21968218 )
2012
31
Clinical case of the month. Idiopathic pulmonary hemosiderosis presenting as a rare cause of iron deficiency anemia in a toddler--a diagnostic challenge. ( 23362597 )
2012
32
Pulmonary hemosiderosis associated with celiac disease: improvement after a gluten-free diet. ( 22782615 )
2012
33
Eight Years Follow-up of a Case with Idiopathic Pulmonary Hemosiderosis After Corticosteroid Therapy. ( 22393549 )
2012
34
Idiopathic pulmonary hemosiderosis in adults: a case report and review of the literature. ( 22851975 )
2012
35
Idiopathic pulmonary hemosiderosis - a severe differential diagnosis of diffuse alveolar hemorrhage. ( 22052637 )
2011
36
Prognosis in adult patients with idiopathic pulmonary hemosiderosis. ( 21881278 )
2011
37
Benefit of gluten-free diet in idiopathic pulmonary hemosiderosis in association with celiac disease. ( 20967850 )
2011
38
Idiopathic pulmonary hemosiderosis: alveoli are an answer to anemia. ( 21206122 )
2011
39
Unusual presentation: pulmonary hemosiderosis with celiac disease and retinitis pigmentosa in a child. ( 21337729 )
2011
40
Miliary nodules due to secondary pulmonary hemosiderosis in rheumatic heart disease. ( 21390194 )
2011
41
Idiopathic pulmonary hemosiderosis: a rare cause of iron-deficiency anemia in childhood. ( 21516015 )
2011
42
Association of celiac disease with cardiomyopathy and pulmonary hemosiderosis. ( 19897848 )
2010
43
Matrix metalloproteinase-9 and its inhibitor in idiopathic pulmonary hemosiderosis. ( 20140773 )
2010
44
Idiopathic pulmonary hemosiderosis in a 9-year-old girl. ( 20156739 )
2009
45
A case of congenital agenesis of the right pulmonary artery presenting with hemoptysis and mimicking pulmonary hemosiderosis. ( 18478262 )
2009
46
Idiopathic pulmonary hemosiderosis: favorable response to corticosteroids. ( 18772123 )
2008
47
Sequential pulmonary function measurements in an infant treated with idiopathic pulmonary hemosiderosis. ( 18847157 )
2008
48
Post-partum exacerbation of idiopathic pulmonary hemosiderosis. ( 19065461 )
2008
49
Screening for celiac disease in idiopathic pulmonary hemosiderosis. ( 18603390 )
2008
50
Maintenance therapy with dose-adjusted 6-mercaptopurine in idiopathic pulmonary hemosiderosis. ( 18972408 )
2008

Variations for Pulmonary Hemosiderosis

Expression for Pulmonary Hemosiderosis

Search GEO for disease gene expression data for Pulmonary Hemosiderosis.

Pathways for Pulmonary Hemosiderosis

Pathways related to Pulmonary Hemosiderosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.69 LYZ MPO PRTN3

GO Terms for Pulmonary Hemosiderosis

Cellular components related to Pulmonary Hemosiderosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.76 CD40LG F7 LYZ MIF MPO MUC1
2 Golgi lumen GO:0005796 9.43 F7 MUC1 MUC5B
3 extracellular space GO:0005615 9.23 CD40LG F7 LYZ MIF MPO MUC1
4 azurophil granule lumen GO:0035578 9.13 LYZ MPO PRTN3

Biological processes related to Pulmonary Hemosiderosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 MUC1 TP63
2 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:1902166 8.62 MIF MUC1

Sources for Pulmonary Hemosiderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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