MCID: PRM166
MIFTS: 8

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 58 6
Primary Ild Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 58

Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Orphanet 58 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:

40
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA3 NM_001089.3(ABCA3):c.128G>A (p.Arg43His)SNV Pathogenic 228321 rs754714105 16:2376202-2376202 16:2326201-2326201
2 ABCA3 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)SNV Pathogenic/Likely pathogenic 203381 rs149989682 16:2367764-2367764 16:2317763-2317763
3 ABCA3 NM_001089.3(ABCA3):c.1609_1611+4delinsCCAindel Likely pathogenic 228242 rs876657633 16:2350002-2350008 16:2300001-2300007
4 ABCA3 NM_001089.3(ABCA3):c.2053-1G>CSNV Likely pathogenic 667363 16:2347541-2347541 16:2297540-2297540

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 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
Content
Loading form....