PAPHG
MCID: PLM179
MIFTS: 14

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 56
Paphg 56

Characteristics:

OMIM:

56
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)


HPO:

31
pulmonary alveolar proteinosis with hypogammaglobulinemia:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 618042
MedGen 41 C4747984

Summaries for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

OMIM : 56 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 respiratory failure and pulmonary alveolar proteinosis. 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 respiratory failure 10.2
2 pulmonary alveolar proteinosis 10.2
3 agammaglobulinemia 10.2

Symptoms & Phenotypes for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Human phenotypes related to Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia:

31
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 recurrent respiratory infections 31 HP:0002205
3 decreased antibody level in blood 31 HP:0004313
4 alveolar proteinosis 31 HP:0006517

Symptoms via clinical synopsis from OMIM:

56
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:

40
Lung

Publications for Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Articles related to Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia:

# Title Authors PMID Year
1
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. 61 56
29455859 2018
2
Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. 56
29185156 2018
3
Successful treatment of congenital pulmonary alveolar proteinosis with intravenous immunoglobulin G administration. 56
16423278 2006

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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