PAPHG
MCID: PLM179
MIFTS: 12

Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia (PAPHG)

Aliases & Classifications for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

MalaCards integrated aliases for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia:

Name: Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia 58
Paphg 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first months of life
death usually in childhood due to respiratory failure
five japanese patients from 3 unrelated families have been reported (last curated june 2018)


External Ids:

OMIM 58 618042
SNOMED-CT via HPO 70 119250001 409623005

Summaries for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

OMIM : 58 Pulmonary alveolar proteinosis with hypogammaglobulinemia (PAPHG) is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life. Affected individuals have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation may be curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant (summary by Cho et al., 2018) (618042)

MalaCards based summary : Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia, also known as paphg, is related to pulmonary alveolar proteinosis and agammaglobulinemia. An important gene associated with Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia is OAS1 (2'-5'-Oligoadenylate Synthetase 1). Affiliated tissues include lung, and related phenotypes are respiratory insufficiency and recurrent respiratory infections

Related Diseases for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Diseases related to Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis 10.2
2 agammaglobulinemia 10.2

Symptoms & Phenotypes for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Human phenotypes related to Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia:

33
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 recurrent respiratory infections 33 HP:0002205
3 decreased antibody level in blood 33 HP:0004313

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency
recurrent respiratory infections

Respiratory Lung:
lung consolidations
pulmonary alveolar proteinosis

Immunology:
hypogammaglobulinemia
recurrent infections, particularly viral lung infections
alveolar macrophages are small and lack foamy inclusions

Clinical features from OMIM:

618042

Drugs & Therapeutics for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Search Clinical Trials , NIH Clinical Center for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Genetic Tests for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Anatomical Context for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia:

42
Lung

Publications for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Articles related to Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia:

# Title Authors Year
1
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. ( 29455859 )
2018

Variations for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Expression for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Search GEO for disease gene expression data for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.

Pathways for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

GO Terms for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Sources for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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