MCID: PLM085
MIFTS: 48

Pulmonary Hemosiderosis

Categories: Rare diseases, Respiratory diseases, Metabolic diseases

Aliases & Classifications for Pulmonary Hemosiderosis

MalaCards integrated aliases for Pulmonary Hemosiderosis:

Name: Pulmonary Hemosiderosis 57 12 53 15
Idiopathic Pulmonary Hemosiderosis 12 53 59 44 73
Alveolar Hypoventilation Syndrome 53 73
Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin 53
Brown Induration 12
Byssinosis 73
Brown Lung 12

Characteristics:

Orphanet epidemiological data:

59
idiopathic pulmonary hemosiderosis
Prevalence: <1/1000000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pulmonary hemosiderosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 178550
Disease Ontology 12 DOID:12118
ICD10 33 J84.03
ICD9CM 35 516.1
MeSH 44 C536281
SNOMED-CT 68 190848001 40527005
Orphanet 59 ORPHA99931
ICD10 via Orphanet 34 E83.1+ J99.8*
MESH via Orphanet 45 C536281
UMLS via Orphanet 74 C0020807
MedGen 42 C0020807

Summaries for Pulmonary Hemosiderosis

NIH Rare Diseases : 53 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. 

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

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.

Description from OMIM: 178550

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 203)
# Related Disease Score Top Affiliating Genes
1 pneumonia 29.4 CD40LG MPO MUC5B
2 glomerulonephritis 28.9 CD40LG CD79A MIF MPO PRTN3
3 vasculitis 28.8 CD40LG CD79A MPO PRTN3
4 hemosiderosis, pulmonary, with deficiency of gamma-a globulin 12.6
5 secondary pulmonary hemosiderosis 12.2
6 idiopathic alveolar hypoventilation syndrome 12.1
7 central hypoventilation syndrome, congenital 11.5
8 cystic basal cell carcinoma 10.9 KRT7 TP63
9 hemosiderosis 10.9
10 cribriform carcinoma 10.9 KRT7 TP63
11 selective igg deficiency disease 10.8 CD40LG CD79A
12 c1q nephropathy 10.8 CD40LG CD79A
13 meningovascular neurosyphilis 10.8 CD40LG CD79A
14 alpha chain disease 10.8 CD40LG CD79A
15 brill-zinsser disease 10.8 CD40LG CD79A
16 exudative glomerulonephritis 10.8 CD40LG CD79A
17 cork-handlers' disease 10.8 CD40LG CD79A
18 byssinosis 10.8
19 salpingo-oophoritis 10.8 CD40LG CD79A
20 early yaws 10.8 CD40LG CD79A
21 ventilation pneumonitis 10.8 CD40LG CD79A
22 chronic interstitial cystitis 10.8 CD40LG CD79A
23 axillary adenitis 10.8 CD40LG CD79A
24 cryofibrinogenemia 10.8 CD40LG CD79A
25 trichostrongyloidiasis 10.8 CD40LG CD79A
26 nail disorder, nonsyndromic congenital, 1 10.8 CD79A TP63
27 subacute bacterial endocarditis 10.8 CD40LG CD79A
28 heterophyiasis 10.8 CD40LG CD79A
29 immunoglobulin g deficiency 10.8 CD40LG CD79A
30 transient hypogammaglobulinemia of infancy 10.8 CD40LG CD79A
31 hyperglobulinemic purpura 10.8 CD40LG CD79A
32 gastroduodenitis 10.8 CD40LG CD79A
33 bacterial conjunctivitis 10.8 CD40LG CD79A
34 heavy chain disease 10.8 CD40LG CD79A
35 ophthalmia neonatorum 10.8 CD40LG CD79A
36 immunoglobulin a deficiency 1 10.8 CD40LG CD79A
37 parotid disease 10.8 CD40LG CD79A
38 encapsulated thymoma 10.8 CD79A MUC5B
39 cerebral arteritis 10.8 CD40LG CD79A
40 selective immunoglobulin deficiency disease 10.8 CD40LG CD79A
41 geniculate herpes zoster 10.8 CD40LG CD79A
42 erythema elevatum diutinum 10.8 CD40LG CD79A
43 sporotrichosis 10.7 CD40LG CD79A
44 fallopian tube disease 10.7 CD40LG CD79A
45 substernal goiter 10.7 CD79A F7
46 hyperimmunoglobulin syndrome 10.7 CD40LG CD79A
47 congenital syphilis 10.7 CD40LG CD79A
48 polyclonal hypergammaglobulinemia 10.7 CD40LG CD79A
49 salpingitis 10.7 CD40LG CD79A
50 ocular toxoplasmosis 10.7 CD40LG CD79A

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
recurrent intrapulmonary hemorrhage
hemoptysis
pulmonary fibrosis
transient pulmonary infiltrates
iron sequestered in pulmonary macrophages
more
Hematology:
iron-deficiency anemia


Clinical features from OMIM:

178550

Human phenotypes related to Pulmonary Hemosiderosis:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 iron deficiency anemia 32 HP:0001891
2 respiratory insufficiency 32 HP:0002093
3 hemoptysis 32 HP:0002105
4 pulmonary fibrosis 32 HP:0002206
5 transient pulmonary infiltrates 32 HP:0005828
6 recurrent intrapulmonary hemorrhage 32 HP:0006535

UMLS symptoms related to Pulmonary Hemosiderosis:


hemoptysis

MGI Mouse Phenotypes related to Pulmonary Hemosiderosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 KRT7 LYZ MIF MUC5B OSBP2 PRTN3
2 hematopoietic system MP:0005397 10.02 CD40LG CD79A EHD1 LYZ MIF MPO
3 homeostasis/metabolism MP:0005376 10 KRT7 LYZ MIF MPO MUC5B RHAG
4 immune system MP:0005387 9.81 CD40LG CD79A LYZ MIF MPO MUC5B
5 no phenotypic analysis MP:0003012 9.5 CD79A EHD1 F7 LYZ PRTN3 TET2
6 renal/urinary system MP:0005367 9.1 CD40LG CD79A KRT7 LYZ TET2 TP63

Drugs & Therapeutics for Pulmonary Hemosiderosis

Interventional clinical trials:


# 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:

41
Lung, Testes, Heart, Bone Marrow, Bone, T Cells, Kidney

Publications for Pulmonary Hemosiderosis

Articles related to Pulmonary Hemosiderosis:

(show top 50) (show all 248)
# Title Authors Year
1
Respiratory Distress and Severe Anemia in a Child With Idiopathic Pulmonary Hemosiderosis. ( 29683951 )
2018
2
Pulmonary hemosiderosis in children with Down syndrome: a national experience. ( 29678139 )
2018
3
Idiopathic Pulmonary Hemosiderosis Mimicking Iron Deficiency Anemia: A Delayed Diagnosis? ( 28670434 )
2017
4
Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis. ( 28251009 )
2017
5
Corticosteroid in combination with leflunomide and mesenchymal stem cells for treatment of pediatric idiopathic pulmonary hemosiderosis. ( 28158572 )
2017
6
Methylprednisolone pulse therapy rescued life-threatening pulmonary hemorrhage due to idiopathic pulmonary hemosiderosis. ( 28784257 )
2017
7
Idiopathic pulmonary hemosiderosis: Hemorrhagic flare after 6 years of remission. ( 28844597 )
2017
8
Welder's pulmonary hemosiderosis associated with systemic iron overload following exacerbation of acute adult T-cell leukemia/lymphoma. ( 28883221 )
2017
9
A Case of Idiopathic Pulmonary Hemosiderosis Presenting With Signs and Symptoms Mimicking Hemolytic Anemia. ( 27918350 )
2017
10
Cor triatriatum sinister: a rare underlying cause of pulmonary hemosiderosis. ( 27026847 )
2016
11
Unusual presentation: Concurrent IgA deficiency and idiopathic pulmonary hemosiderosis. ( 27120139 )
2016
12
Helicobacter pylori Associated With Pulmonary Hemosiderosis. ( 26741588 )
2016
13
A young man with hemoptysis: Rare association of idiopathic pulmonary hemosiderosis, celiac disease and dilated cardiomyopathy. ( 25624603 )
2015
14
Idiopathic Pulmonary Hemosiderosis With Allergic Asthma Diagnosis in a Pediatric Patient. ( 26241728 )
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
Idiopathic pulmonary hemosiderosis presenting in an adult: A case report and review of the literature. ( 26180395 )
2015
19
Idiopathic Pulmonary Hemosiderosis Presenting as Anemia, Failure to Thrive, and Jaundice in a Toddler. ( 26414632 )
2015
20
Unexplained childhood anaemia: idiopathic pulmonary hemosiderosis. ( 25904566 )
2015
21
Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome. ( 26495097 )
2015
22
Pulmonary Hemosiderosis Associated To Celiac Disease: Lane Hamilton Syndrome. ( 25944220 )
2015
23
Neonatal pulmonary hemosiderosis. ( 25389504 )
2014
24
Idiopathic pulmonary hemosiderosis - a diagnostic challenge. ( 24708654 )
2014
25
Pulmonary hemosiderosis in children with bronchopulmonary dysplasia. ( 25309768 )
2014
26
Extracorporeal life support for a 5-week-old infant with idiopathic pulmonary hemosiderosis. ( 23942745 )
2013
27
New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(Ar) cohort. ( 24125570 )
2013
28
The importance of evaluation of Celiac disease in patients with pulmonary hemosiderosis. ( 23550401 )
2013
29
Idiopathic pulmonary hemosiderosis presenting as a rare cause of iron deficiency anemia in a toddler--a diagnostic challenge. ( 23550400 )
2013
30
Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis. ( 23812505 )
2013
31
Melioidosis and idiopathic pulmonary hemosiderosis: a cast-iron case. ( 25473541 )
2013
32
Idiopathic pulmonary hemosiderosis in adults: a case report and review of the literature. ( 22851975 )
2012
33
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
34
Pulmonary hemosiderosis associated with celiac disease: improvement after a gluten-free diet. ( 22782615 )
2012
35
Child with idiopathic pulmonary hemosiderosis: a case report from Pakistan with multiple ethical and moral issues. ( 21968218 )
2012
36
Eight Years Follow-up of a Case with Idiopathic Pulmonary Hemosiderosis After Corticosteroid Therapy. ( 22393549 )
2012
37
Benefit of gluten-free diet in idiopathic pulmonary hemosiderosis in association with celiac disease. ( 20967850 )
2011
38
Idiopathic pulmonary hemosiderosis: a rare cause of iron-deficiency anemia in childhood. ( 21516015 )
2011
39
Prognosis in adult patients with idiopathic pulmonary hemosiderosis. ( 21881278 )
2011
40
Unusual presentation: pulmonary hemosiderosis with celiac disease and retinitis pigmentosa in a child. ( 21337729 )
2011
41
Idiopathic pulmonary hemosiderosis: alveoli are an answer to anemia. ( 21206122 )
2011
42
Miliary nodules due to secondary pulmonary hemosiderosis in rheumatic heart disease. ( 21390194 )
2011
43
Idiopathic pulmonary hemosiderosis - a severe differential diagnosis of diffuse alveolar hemorrhage. ( 22052637 )
2011
44
Association of celiac disease with cardiomyopathy and pulmonary hemosiderosis. ( 19897848 )
2010
45
Matrix metalloproteinase-9 and its inhibitor in idiopathic pulmonary hemosiderosis. ( 20140773 )
2010
46
A case of congenital agenesis of the right pulmonary artery presenting with hemoptysis and mimicking pulmonary hemosiderosis. ( 18478262 )
2009
47
Idiopathic pulmonary hemosiderosis in a 9-year-old girl. ( 20156739 )
2009
48
Screening for celiac disease in idiopathic pulmonary hemosiderosis. ( 18603390 )
2008
49
Post-partum exacerbation of idiopathic pulmonary hemosiderosis. ( 19065461 )
2008
50
Idiopathic pulmonary hemosiderosis: favorable response to corticosteroids. ( 18772123 )
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:

# Super pathways Score Top Affiliating Genes
1 10.82 COPA LYZ MPO PRTN3

GO Terms for Pulmonary Hemosiderosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.81 COPA EHD1 KRT7 LYZ MIF MPO
2 extracellular region GO:0005576 9.61 CD40LG COPA F7 LYZ MIF MPO
3 Golgi lumen GO:0005796 9.5 F7 MUC1 MUC5B
4 azurophil granule lumen GO:0035578 9.43 LYZ MPO PRTN3
5 extracellular space GO:0005615 9.28 CD40LG COPA F7 LYZ MIF MPO

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

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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