MCID: PRM166
MIFTS: 7

Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies

Categories: Cardiovascular diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Primary Interstitial Lung Disease Specific to Childhood Due to...

MalaCards integrated aliases for Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies:

Name: Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 59 6
Primary Ild Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 59

Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

Orphanet 59 ORPHA100049

Summaries for Primary Interstitial Lung Disease Specific to Childhood Due to...

MalaCards based summary : Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies, is also known as primary ild specific to childhood due to pulmonary surfactant protein anomalies. An important gene associated with Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies is ABCA3 (ATP Binding Cassette Subfamily A Member 3). Affiliated tissues include lung.

Related Diseases for Primary Interstitial Lung Disease Specific to Childhood Due to...

Symptoms & Phenotypes for Primary Interstitial Lung Disease Specific to Childhood Due to...

Drugs & Therapeutics for Primary Interstitial Lung Disease Specific to Childhood Due to...

Search Clinical Trials , NIH Clinical Center for Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies

Genetic Tests for Primary Interstitial Lung Disease Specific to Childhood Due to...

Anatomical Context for Primary Interstitial Lung Disease Specific to Childhood Due to...

MalaCards organs/tissues related to Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies:

41
Lung

Publications for Primary Interstitial Lung Disease Specific to Childhood Due to...

Variations for Primary Interstitial Lung Disease Specific to Childhood Due to...

ClinVar genetic disease variations for Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCA3 NM_001089.3(ABCA3): c.128G> A (p.Arg43His) single nucleotide variant Pathogenic rs754714105 16:2376202-2376202 16:2326201-2326201

Expression for Primary Interstitial Lung Disease Specific to Childhood Due to...

Search GEO for disease gene expression data for Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies.

Pathways for Primary Interstitial Lung Disease Specific to Childhood Due to...

GO Terms for Primary Interstitial Lung Disease Specific to Childhood Due to...

Sources for Primary Interstitial Lung Disease Specific to Childhood Due to...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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