MCID: PLM085
MIFTS: 46

Pulmonary Hemosiderosis

Categories: Blood diseases, Metabolic diseases, Rare diseases, Respiratory 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 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 glomerulonephritis and pneumonia, 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 respiratory insufficiency and pulmonary fibrosis

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 142)
# Related Disease Score Top Affiliating Genes
1 glomerulonephritis 30.3 MIF MPO PRTN3
2 pneumonia 30.0 CRP MPO MUC5B
3 vasculitis 29.6 CRP MPO PRTN3
4 hemosiderosis, pulmonary, with deficiency of gamma-a globulin 12.7
5 secondary pulmonary hemosiderosis 12.3
6 idiopathic alveolar hypoventilation syndrome 12.3
7 central hypoventilation syndrome, congenital 11.6
8 hemosiderosis 11.0
9 byssinosis 11.0
10 celiac disease 1 10.4
11 deficiency anemia 10.3
12 iron deficiency anemia 10.3
13 iron metabolism disease 10.3
14 cystic basal cell carcinoma 10.3 KRT7 TP63
15 cervical adenoma malignum 10.3 HMGA2 KRT7
16 cribriform carcinoma 10.3 KRT7 TP63
17 cervical mucinous adenocarcinoma 10.2 HMGA2 KRT7
18 sensory organ benign neoplasm 10.2 KRT7 LYZ
19 maxillary sinusitis 10.2 MPO MUC5B
20 solid adenocarcinoma with mucin production 10.2 KRT7 MUC1
21 endosalpingiosis 10.2 KRT7 MUC1
22 parachordoma 10.2 KRT7 MUC1
23 secretory meningioma 10.2 KRT7 MUC1
24 middle ear adenoma 10.2 KRT7 MUC1
25 nodular hidradenoma 10.2 KRT7 MUC1
26 hidradenoma 10.2 KRT7 MUC1
27 anal gland adenocarcinoma 10.2 CRP KRT7
28 bile duct cystadenocarcinoma 10.2 KRT7 MUC1
29 bile duct adenoma 10.2 KRT7 MUC1
30 monophasic synovial sarcoma 10.2 KRT7 MUC1
31 chronic ethmoiditis 10.2 MUC1 MUC5B
32 adenomyoma 10.2 KRT7 MUC1
33 meibomian cyst 10.1 KRT7 PRTN3
34 arthritis 10.1
35 syringoma 10.1 MUC1 TP63
36 mucoepidermoid carcinoma 10.1 KRT7 MUC1 TP63
37 dermoid cyst 10.1 TP63 MUC1 KRT7
38 bile duct mucoepidermoid carcinoma 10.1 MUC5B MUC1 KRT7
39 intestinal perforation 10.1 CRP KRT7
40 mucinous ovarian cystadenoma 10.1 KRT7 MUC1
41 spindle cell carcinoma 10.1 TP63 MUC1 KRT7
42 cryptogenic organizing pneumonia 10.1 MUC1 MUC5B
43 pancreatic mucinous cystadenoma 10.1 MUC5B MUC1 KRT7
44 adenosquamous carcinoma 10.1 TP63 MUC1 KRT7
45 cavernous hemangioma 10.1 TP63 MUC1 KRT7
46 well-differentiated liposarcoma 10.1 MUC1 KRT7 HMGA2
47 paget disease, extramammary 10.1 KRT7 MUC1
48 mononeuritis multiplex 10.1 CRP MPO
49 orbital granuloma 10.1 MUC1 PRTN3
50 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.1 EHD1 TF

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:
respiratory insufficiency
pulmonary fibrosis
hemoptysis
recurrent intrapulmonary hemorrhage
transient pulmonary infiltrates
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 respiratory insufficiency 32 HP:0002093
2 pulmonary fibrosis 32 HP:0002206
3 hemoptysis 32 HP:0002105
4 iron deficiency anemia 32 HP:0001891
5 recurrent intrapulmonary hemorrhage 32 HP:0006535
6 transient pulmonary infiltrates 32 HP:0005828

UMLS symptoms related to Pulmonary Hemosiderosis:


hemoptysis

MGI Mouse Phenotypes related to Pulmonary Hemosiderosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 EHD1 LYZ MIF MPO MUC5B PRTN3
2 homeostasis/metabolism MP:0005376 9.36 CRP EHD1 F7 KRT7 LYZ MIF

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, Kidney, T Cells, Bone Marrow

Publications for Pulmonary Hemosiderosis

Articles related to Pulmonary Hemosiderosis:

(show top 50) (show all 255)
# 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
Severe iron-deficiency anemia as initial manifestation of pulmonary hemosiderosis in a child. ( 30517370 )
2018
4
Recurrent idiopathic pulmonary hemosiderosis after long-term remission presented with Sjogren's syndrome: Idiopathic no more? ( 29984151 )
2018
5
Clinical characteristics and prognosis of idiopathic pulmonary hemosiderosis in pediatric patients. ( 30278795 )
2018
6
Diffuse pulmonary small nodular and patchy infiltrates on chest X-ray with hemoptysis: TB or not TB?-a call for scale up of respiratory medicine services in African TB high burden countries: a case of idiopathic pulmonary hemosiderosis. ( 30364423 )
2018
7
Idiopathic Pulmonary Hemosiderosis Mimicking Iron Deficiency Anemia: A Delayed Diagnosis? ( 28670434 )
2017
8
Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis. ( 28251009 )
2017
9
Corticosteroid in combination with leflunomide and mesenchymal stem cells for treatment of pediatric idiopathic pulmonary hemosiderosis. ( 28158572 )
2017
10
Methylprednisolone pulse therapy rescued life-threatening pulmonary hemorrhage due to idiopathic pulmonary hemosiderosis. ( 28784257 )
2017
11
Idiopathic pulmonary hemosiderosis: Hemorrhagic flare after 6 years of remission. ( 28844597 )
2017
12
Welder's pulmonary hemosiderosis associated with systemic iron overload following exacerbation of acute adult T-cell leukemia/lymphoma. ( 28883221 )
2017
13
A Case of Idiopathic Pulmonary Hemosiderosis Presenting With Signs and Symptoms Mimicking Hemolytic Anemia. ( 27918350 )
2017
14
Pulmonary Hemosiderosis Associated With Celiac Disease: Lane Hamilton Syndrome. ( 25944220 )
2017
15
Cor triatriatum sinister: a rare underlying cause of pulmonary hemosiderosis. ( 27026847 )
2016
16
Unusual presentation: Concurrent IgA deficiency and idiopathic pulmonary hemosiderosis. ( 27120139 )
2016
17
Helicobacter pylori Associated With Pulmonary Hemosiderosis. ( 26741588 )
2016
18
A young man with hemoptysis: Rare association of idiopathic pulmonary hemosiderosis, celiac disease and dilated cardiomyopathy. ( 25624603 )
2015
19
Idiopathic Pulmonary Hemosiderosis With Allergic Asthma Diagnosis in a Pediatric Patient. ( 26241728 )
2015
20
Idiopathic pulmonary hemosiderosis in adults: Review of cases reported in the latest 15 years. ( 26692115 )
2015
21
Idiopathic pulmonary hemosiderosis complicated by Down syndrome. ( 26508184 )
2015
22
A physician survey reveals differences in management of idiopathic pulmonary hemosiderosis. ( 26289251 )
2015
23
Idiopathic pulmonary hemosiderosis presenting in an adult: A case report and review of the literature. ( 26180395 )
2015
24
Idiopathic Pulmonary Hemosiderosis Presenting as Anemia, Failure to Thrive, and Jaundice in a Toddler. ( 26414632 )
2015
25
Unexplained childhood anaemia: idiopathic pulmonary hemosiderosis. ( 25904566 )
2015
26
Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome. ( 26495097 )
2015
27
Erratum to: Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis. ( 26424556 )
2015
28
Neonatal pulmonary hemosiderosis. ( 25389504 )
2014
29
Idiopathic pulmonary hemosiderosis - a diagnostic challenge. ( 24708654 )
2014
30
Pulmonary hemosiderosis in children with bronchopulmonary dysplasia. ( 25309768 )
2014
31
Extracorporeal life support for a 5-week-old infant with idiopathic pulmonary hemosiderosis. ( 23942745 )
2013
32
New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(Ar) cohort. ( 24125570 )
2013
33
The importance of evaluation of Celiac disease in patients with pulmonary hemosiderosis. ( 23550401 )
2013
34
Idiopathic pulmonary hemosiderosis presenting as a rare cause of iron deficiency anemia in a toddler--a diagnostic challenge. ( 23550400 )
2013
35
Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis. ( 23812505 )
2013
36
Melioidosis and idiopathic pulmonary hemosiderosis: a cast-iron case. ( 25473541 )
2013
37
Idiopathic pulmonary hemosiderosis in adults: a case report and review of the literature. ( 22851975 )
2012
38
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
39
Pulmonary hemosiderosis associated with celiac disease: improvement after a gluten-free diet. ( 22782615 )
2012
40
Child with idiopathic pulmonary hemosiderosis: a case report from Pakistan with multiple ethical and moral issues. ( 21968218 )
2012
41
Eight Years Follow-up of a Case with Idiopathic Pulmonary Hemosiderosis After Corticosteroid Therapy. ( 22393549 )
2012
42
Benefit of gluten-free diet in idiopathic pulmonary hemosiderosis in association with celiac disease. ( 20967850 )
2011
43
Idiopathic pulmonary hemosiderosis: a rare cause of iron-deficiency anemia in childhood. ( 21516015 )
2011
44
Prognosis in adult patients with idiopathic pulmonary hemosiderosis. ( 21881278 )
2011
45
Unusual presentation: pulmonary hemosiderosis with celiac disease and retinitis pigmentosa in a child. ( 21337729 )
2011
46
Idiopathic pulmonary hemosiderosis: alveoli are an answer to anemia. ( 21206122 )
2011
47
Miliary nodules due to secondary pulmonary hemosiderosis in rheumatic heart disease. ( 21390194 )
2011
48
Idiopathic pulmonary hemosiderosis - a severe differential diagnosis of diffuse alveolar hemorrhage. ( 22052637 )
2011
49
Association of celiac disease with cardiomyopathy and pulmonary hemosiderosis. ( 19897848 )
2010
50
Matrix metalloproteinase-9 and its inhibitor in idiopathic pulmonary hemosiderosis. ( 20140773 )
2010

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 region GO:0005576 9.85 COPA CRP F7 LYZ MIF MPO
2 extracellular exosome GO:0070062 9.65 COPA EHD1 KRT7 LYZ MIF MPO
3 vesicle GO:0031982 9.56 F7 MIF MUC1 TF
4 Golgi lumen GO:0005796 9.54 F7 MUC1 MUC5B
5 azurophil granule lumen GO:0035578 9.5 LYZ MPO PRTN3
6 extracellular space GO:0005615 9.32 COPA CRP F7 LYZ MIF MPO

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:1902166 8.62 MIF MUC1

Molecular functions related to Pulmonary Hemosiderosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 8.62 TET2 TF

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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