MCID: PLM085
MIFTS: 44

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 20 15
Idiopathic Pulmonary Hemosiderosis 12 20 58 44 70
Alveolar Hypoventilation Syndrome 20 70
Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin 20
Alveolar Hypoventilation 6
Brown Induration 12
Byssinosis 70
Brown Lung 12

Characteristics:

Orphanet epidemiological data:

58
idiopathic pulmonary hemosiderosis
Prevalence: <1/1000000 (Europe); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
pulmonary hemosiderosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:12118
OMIM® 57 178550
ICD9CM 34 516.1
MeSH 44 C536281
SNOMED-CT 67 190848001
ICD10 32 J84.03
MESH via Orphanet 45 C536281
ICD10 via Orphanet 33 E83.1+ J99.8*
UMLS via Orphanet 71 C0020807
Orphanet 58 ORPHA99931
MedGen 41 C0020807
UMLS 70 C0006542 C0020807 C3489730

Summaries for Pulmonary Hemosiderosis

GARD : 20 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 hemosiderosis and glomerulonephritis, and has symptoms including hemoptysis An important gene associated with Pulmonary Hemosiderosis is PMPCA (Peptidase, Mitochondrial Processing Subunit Alpha), and among its related pathways/superpathways are Surfactant metabolism and Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs Propofol and Calamus have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and kidney, 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, shortness of breath, 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.

More information 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 293)
# Related Disease Score Top Affiliating Genes
1 hemosiderosis 32.1 PRTN3 MIF KRT7
2 glomerulonephritis 30.9 PRTN3 MPO MIF
3 goodpasture syndrome 30.4 PRTN3 MPO
4 respiratory failure 30.2 SFTPB MPO ABCA3
5 polyarteritis nodosa 29.7 PRTN3 MPO
6 interstitial lung disease 29.7 SFTPB PRTN3 ABCA3
7 lung disease 29.6 SFTPB PRTN3 MPO ABCA3
8 pulmonary disease, chronic obstructive 29.6 SFTPB PRTN3 MPO
9 hemosiderosis, pulmonary, with deficiency of gamma-a globulin 11.6
10 central hypoventilation syndrome, congenital 11.6
11 perry syndrome 11.6
12 idiopathic alveolar hypoventilation syndrome 11.3
13 rohhad 11.3
14 secondary pulmonary hemosiderosis 11.2
15 deficiency anemia 10.7
16 iron metabolism disease 10.7
17 iron deficiency anemia 10.7
18 diffuse alveolar hemorrhage 10.5
19 celiac disease 1 10.5
20 mitral valve stenosis 10.4
21 pulmonary fibrosis 10.4
22 vasculitis 10.3
23 obesity-hypoventilation syndrome 10.3
24 hypersomnia 10.3
25 dacryocystocele 10.3 PRTN3 KRT7
26 chronic inflammation of lacrimal passage 10.2 PRTN3 KRT7
27 myotonic dystrophy 10.2
28 cyanosis, transient neonatal 10.2
29 purulent acute otitis media 10.2 PRTN3 MPO
30 allergic cutaneous vasculitis 10.2 PRTN3 MPO
31 multiple cranial nerve palsy 10.2 PRTN3 MPO
32 acute frontal sinusitis 10.2 PRTN3 MPO
33 anca-associated vasculitis 10.2 PRTN3 MPO
34 glossopharyngeal nerve disease 10.2 PRTN3 MPO
35 chronic maxillary sinusitis 10.2 PRTN3 MPO
36 maxillary sinusitis 10.2 PRTN3 MPO
37 mononeuritis of upper limb and mononeuritis multiplex 10.2 PRTN3 MPO
38 mononeuritis multiplex 10.2 PRTN3 MPO
39 pulmonary hypertension 10.2
40 purpura 10.2
41 subacute bacterial endocarditis 10.2 PRTN3 MPO
42 mastoiditis 10.2 PRTN3 MPO
43 aortitis 10.2 PRTN3 MPO
44 chondromalacia 10.2 PRTN3 MPO
45 hypothyroidism 10.2
46 scleral disease 10.2 PRTN3 MPO
47 orbital granuloma 10.2 PRTN3 MPO
48 cryptogenic organizing pneumonia 10.2 PRTN3 MPO
49 autoimmune vasculitis 10.2 PRTN3 MPO
50 impetigo herpetiformis 10.2 PRTN3 IL36RN

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 pulmonary fibrosis 31 HP:0002206
3 hemoptysis 31 HP:0002105
4 recurrent intrapulmonary hemorrhage 31 HP:0006535
5 iron deficiency anemia 31 HP:0001891
6 transient pulmonary infiltrates 31 HP:0005828

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
respiratory insufficiency
pulmonary fibrosis
hemoptysis
recurrent intrapulmonary hemorrhage
transient pulmonary infiltrates
more
Hematology:
iron-deficiency anemia

Clinical features from OMIM®:

178550 (Updated 05-Apr-2021)

UMLS symptoms related to Pulmonary Hemosiderosis:


hemoptysis

Drugs & Therapeutics for Pulmonary Hemosiderosis

Drugs for Pulmonary Hemosiderosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
2 Calamus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sun Yat-sen Memorial Hospital Unknown status NCT02985346 Early Phase 1
2 PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood Unknown status NCT00652964
3 Assessment of Capnography in Monitoring Patients During Nurse Administered Deep Sedation With Propofol Completed NCT01220765
4 Non Invasive Ventilation and Nocturnal Alveolar Hypoventilation in Patients With Chronic Obstructive Pulmonary Disease (COPD) Treated by Long Term Oxygen Therapy at Home Terminated NCT03584269
5 The Pulmonary Vascular Consequences of Divergent Strategies for Low Tidal Volume Ventilation: Hypercapnia or High Respiratory Rate? Withdrawn NCT01927237
6 Assessment of Therapeutic Education About Non Invasive Ventilation in Patients With Chronic Respiratory Withdrawn NCT03090126

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:

40
Lung, Heart, Kidney, Liver

Publications for Pulmonary Hemosiderosis

Articles related to Pulmonary Hemosiderosis:

(show top 50) (show all 722)
# Title Authors PMID Year
1
Idiopathic pulmonary hemosiderosis: two cases in a family. 57 61
621956 1978
2
Idiopathic pulmonary hemosiderosis in adults: review of cases reported in the latest 15 years. 20 61
26692115 2017
3
Idiopathic pulmonary haemosiderosis in Japan: 39 possible cases from a survey questionnaire. 57
8801109 1995
4
Pulmonary Hemosiderosis with Calcification Associated with IgA Nephropathy. 61
33626295 2021
5
Aggressive corticosteroid treatment in childhood idiopathic pulmonary hemosiderosis with better outcome. 61
32505591 2021
6
Is It Time to Call Idiopathic Pulmonary Hemosiderosis by the Correct Name: Immune-Mediated Pulmonary Hemosiderosis? 61
33487400 2021
7
Idiopathic pulmonary hemosiderosis: A state of the art review. 61
33246295 2021
8
Idiopathic Pulmonary Hemosiderosis Associated with Emphysematous Change in an Adult Who Underwent Lung Transplantation. 61
32830179 2021
9
Cow's Milk Protein Allergy in Term and Preterm Infants: Clinical Manifestations, Immunologic Pathophysiology, and Management Strategies. 61
33262206 2020
10
Risk factors for recurrent pulmonary exacerbation in idiopathic pulmonary hemosiderosis. 61
33247613 2020
11
Idiopathic pulmonary hemosiderosis: a review of the treatments used during the past 30 years and future directions. 61
33184706 2020
12
Possible association of idiopathic pulmonary hemosiderosis with rheumatoid arthritis: A case report. 61
32765707 2020
13
Bronchial Artery Embolization in Pediatric Pulmonary Hemorrhage: A Single-Center Experience. 61
32457013 2020
14
Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy. 61
32293809 2020
15
Idiopathic pulmonary hemosiderosis - A rare cause of chronic anemia. 61
32512987 2020
16
Autoimmunity and Delayed Diagnosis in Pediatric Idiopathic Pulmonary Hemosiderosis. 61
31107369 2020
17
Idiopathic Pulmonary Hemosiderosis as a Mimic of Pulmonary Vasculitis: A Case Report and Review of the Literature. 61
32248398 2020
18
Pulmonary Hemosiderosis in a Child With Systemic Lupus Erythematosus: A Rare Presentation. 61
32489744 2020
19
Thoracotomy Wound Dehiscence After Lung Transplant Is an Effective Surgical Solution: A Case Report. 61
32037063 2020
20
Childhood diffuse parenchymal lung diseases: We need a new classification. 61
31724297 2020
21
Diffuse alveolar hemorrhage in infants: Report of five cases. 61
32802736 2020
22
Successful Liposteroid Therapy for a Recurrent Idiopathic Pulmonary Hemosiderosis with Down Syndrome. 61
32373381 2020
23
Disease recurrence after lung transplantation for idiopathic pulmonary hemosiderosis. 61
32577369 2020
24
Early diagnosis of idiopathic pulmonary hemosiderosis using gastric lavage. 61
31814232 2019
25
Extracorporeal Membrane Oxygenation for Diffuse Alveolar Hemorrhage Caused by Idiopathic Pulmonary Hemosiderosis: A Case Report and a Review of the Literature. 61
31404435 2019
26
[Diffuse alveolar hemorrhage in children]. 61
31506159 2019
27
Cryobiopsy in the diagnosis of idiopathic pulmonary hemosiderosis: a case report. 61
31463151 2019
28
Respiratory Distress and Severe Anemia in a Child With Idiopathic Pulmonary Hemosiderosis. 61
29683951 2019
29
Rare neonatal interstitial lung disease masquerading as pulmonary hemosiderosis. 61
31023731 2019
30
Bronchoalveolar lavage hemosiderosis in dogs and cats with respiratory disease. 61
30657606 2019
31
Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis. 61
30767323 2019
32
Early Initiation of Steroid-sparing Drugs in Idiopathic Pulmonary Hemosiderosis. 61
30806370 2019
33
Clinical characteristics and prognosis of idiopathic pulmonary hemosiderosis in pediatric patients. 61
30278795 2019
34
Hematochezia in a Child With Heiner Syndrome. 61
32047728 2019
35
A different clinical presentation of Heiner syndrome: The case of diffuse alveolar hemorrhage causing massive hemoptysis and hematemesis. 61
30733916 2019
36
Pulmonary Hemorrhage in Children: Etiology, Clinical Profile and Outcome. 61
29948735 2019
37
Severe iron-deficiency anemia as initial manifestation of pulmonary hemosiderosis in a child. 61
30517370 2018
38
Pulmonary hemosiderosis in children with Down syndrome: a national experience. 61
29678139 2018
39
Imaging findings of Copa syndrome in a 12-year-old boy. 61
28956095 2018
40
Liposteroid and methylprednisolone combination therapy for a case of idiopathic lung hemosiderosis. 61
29977750 2018
41
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. 61
30364423 2018
42
Recurrent idiopathic pulmonary hemosiderosis after long-term remission presented with Sjogren's syndrome: Idiopathic no more? 61
29984151 2018
43
Methylprednisolone pulse therapy rescued life-threatening pulmonary hemorrhage due to idiopathic pulmonary hemosiderosis. 61
28784257 2017
44
Idiopathic pulmonary hemosiderosis: Hemorrhagic flare after 6 years of remission. 61
28844597 2017
45
Welder's pulmonary hemosiderosis associated with systemic iron overload following exacerbation of acute adult T-cell leukemia/lymphoma. 61
28883221 2017
46
Corticosteroid in Combination with Leflunomide and Mesenchymal Stem Cells for Treatment of Pediatric Idiopathic Pulmonary Hemosiderosis. 61
28158572 2017
47
[Diffuse alveolar hemorrhage in 4 girls]. 61
29046210 2017
48
Idiopathic Pulmonary Hemosiderosis Mimicking Iron Deficiency Anemia: A Delayed Diagnosis? 61
28670434 2017
49
Pulmonary Hemosiderosis Associated With Celiac Disease: Lane Hamilton Syndrome. 61
25944220 2017
50
Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis. 61
28251009 2017

Variations for Pulmonary Hemosiderosis

ClinVar genetic disease variations for Pulmonary Hemosiderosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) SNV Pathogenic 221552 rs753611141 GRCh37: 9:139313299-139313299
GRCh38: 9:136418847-136418847
2 PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) SNV Pathogenic 221553 rs768643552 GRCh37: 9:139313082-139313082
GRCh38: 9:136418630-136418630

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
Show member pathways
10.59 SFTPB ABCA3
2 9.95 MMADHC LMBRD1

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 space GO:0005615 9.17 SFTPB PRTN3 PMPCA MPO MIF IL36RN
2 clathrin-coated endocytic vesicle GO:0045334 9.16 SFTPB LMBRD1
3 alveolar lamellar body GO:0097208 8.96 SFTPB ABCA3

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 8.62 MMADHC LMBRD1

Sources for Pulmonary Hemosiderosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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