MCID: HYP692
MIFTS: 22

Hypersensitivity Pneumonitis, Familial

Categories: Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hypersensitivity Pneumonitis, Familial

MalaCards integrated aliases for Hypersensitivity Pneumonitis, Familial:

Name: Hypersensitivity Pneumonitis, Familial 58
Familial Hypersensitivity Pneumonitis 77 74
Pigeon-Breeder Lung Disease 60
Pigeon Breeder's Lung 74
Pigeon Breeders Lung 56
Bird Fancier's Lung 74
Bird Fancier Lung 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hypersensitivity pneumonitis, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 145300
ICD10 34 J67.2
MESH via Orphanet 46 D001716
ICD10 via Orphanet 35 J67.2
UMLS via Orphanet 75 C0031903
Orphanet 60 ORPHA99908
MedGen 43 C1840386
SNOMED-CT via HPO 70 263681008 37471005

Summaries for Hypersensitivity Pneumonitis, Familial

MalaCards based summary : Hypersensitivity Pneumonitis, Familial, also known as familial hypersensitivity pneumonitis, is related to bird fancier's lung and allergic hypersensitivity disease. An important gene associated with Hypersensitivity Pneumonitis, Familial is CTSK (Cathepsin K), and among its related pathways/superpathways is Class I MHC mediated antigen processing and presentation. Affiliated tissues include lung, and related phenotypes are hypersensitivity pneumonitis and Reduced mammosphere formation

Wikipedia : 77 Hypersensitivity pneumonitis (HP) is an inflammation of the alveoli within the lung caused by... more...

Description from OMIM: 145300

Related Diseases for Hypersensitivity Pneumonitis, Familial

Diseases related to Hypersensitivity Pneumonitis, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bird fancier's lung 12.0
2 allergic hypersensitivity disease 9.9

Symptoms & Phenotypes for Hypersensitivity Pneumonitis, Familial

Human phenotypes related to Hypersensitivity Pneumonitis, Familial:

33
# Description HPO Frequency HPO Source Accession
1 hypersensitivity pneumonitis 33 HP:0006516

Symptoms via clinical synopsis from OMIM:

58
Pulmonary:
hypersensitivity pneumonitis

Clinical features from OMIM:

145300

GenomeRNAi Phenotypes related to Hypersensitivity Pneumonitis, Familial according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.62 CD79A CTSK

Drugs & Therapeutics for Hypersensitivity Pneumonitis, Familial

Search Clinical Trials , NIH Clinical Center for Hypersensitivity Pneumonitis, Familial

Genetic Tests for Hypersensitivity Pneumonitis, Familial

Anatomical Context for Hypersensitivity Pneumonitis, Familial

MalaCards organs/tissues related to Hypersensitivity Pneumonitis, Familial:

42
Lung

Publications for Hypersensitivity Pneumonitis, Familial

Articles related to Hypersensitivity Pneumonitis, Familial:

# Title Authors Year
1
Biopsy-proven recurrent, acute, familial hypersensitivity pneumonitis: A case report and literature review. ( 29977789 )
2018
2
Familial hypersensitivity pneumonitis induced by Bacillus subtilis. ( 6774642 )
1980
3
Familial hypersensitivity pneumonitis. ( 1080953 )
1975

Variations for Hypersensitivity Pneumonitis, Familial

Expression for Hypersensitivity Pneumonitis, Familial

Search GEO for disease gene expression data for Hypersensitivity Pneumonitis, Familial.

Pathways for Hypersensitivity Pneumonitis, Familial

Pathways related to Hypersensitivity Pneumonitis, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.8 CD79A CTSK

GO Terms for Hypersensitivity Pneumonitis, Familial

Sources for Hypersensitivity Pneumonitis, Familial

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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