MCID: HYP692
MIFTS: 20

Hypersensitivity Pneumonitis, Familial

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

Aliases & Classifications for Hypersensitivity Pneumonitis, Familial

MalaCards integrated aliases for Hypersensitivity Pneumonitis, Familial:

Name: Hypersensitivity Pneumonitis, Familial 57
Familial Hypersensitivity Pneumonitis 76 73
Pigeon-Breeder Lung Disease 59
Pigeon Breeder's Lung 73
Pigeon Breeders Lung 55
Bird Fancier's Lung 73
Bird Fancier Lung 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypersensitivity pneumonitis, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 145300
Orphanet 59 ORPHA99908
MESH via Orphanet 45 D001716
UMLS via Orphanet 74 C0031903
ICD10 via Orphanet 34 J67.2
MedGen 42 C1840386
SNOMED-CT via HPO 69 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 rheumatoid arthritis. An important gene associated with Hypersensitivity Pneumonitis, Familial is CTSK (Cathepsin K). Affiliated tissues include lung, and related phenotypes are hypersensitivity pneumonitis and Reduced mammosphere formation

Wikipedia : 76 Hypersensitivity pneumonitis (HP; also called allergic alveolitis, bagpipe lung, or extrinsic allergic... 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 11.8
2 rheumatoid arthritis 9.0 CD79A CTSK

Symptoms & Phenotypes for Hypersensitivity Pneumonitis, Familial

Symptoms via clinical synopsis from OMIM:

57
Pulmonary:
hypersensitivity pneumonitis


Clinical features from OMIM:

145300

Human phenotypes related to Hypersensitivity Pneumonitis, Familial:

32
# Description HPO Frequency HPO Source Accession
1 hypersensitivity pneumonitis 32 HP:0006516

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

26
# 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:

41
Lung

Publications for Hypersensitivity Pneumonitis, Familial

Articles related to Hypersensitivity Pneumonitis, Familial:

# Title Authors Year
1
Familial hypersensitivity pneumonitis induced by Bacillus subtilis. ( 6774642 )
1980
2
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

GO Terms for Hypersensitivity Pneumonitis, Familial

Sources for Hypersensitivity Pneumonitis, Familial

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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