Pulmonary hypoplasia with anasarca, ADAMTS3-related
- Phene ID
- 3077
- Name
- Pulmonary hypoplasia with anasarca, ADAMTS3-related
- Phene Name
- N/A
- OMIA ID
- 1562
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2020
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1163 | Pulmonary hypoplasia and anasarca syndrome | 388274138 | 1 | 6 | NC_037333.1:g.87462016G>A | NM_001192797.1:c.1222C>T | NP_001179726.1:p.(H408T) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Cikasto govedo, Slovenia (Cattle) | 1112 | 9913 | http://purl.obolibrary.org/obo/VBO_0005270 |
Häfliger et al. (2020; PMID 32069517): "Whole‐genome sequencing of one case, variant filtering against controls and genotyping of a larger cohort of Cika cattle led to the detection of a likely pathogenic protein‐changing variant perfectly associated with the disease: a missense variant on chromosome 6 in ADAMTS3 (NM_001192797.1: c.1222C>T), which affects an evolutionary conserved residue (NP_001179726.1: p.(His408Tyr))"
Since 2006, a DNA test for this disorder in Maine Anjou and some other breeds (developed by Dr Jon Beever, Dept of Animal Sciences, University of Illinois) has been available. Häfliger et al. (2020; PMID 32069517) reported that "All three PHA‐affected cases were tested homozygous wt for the variants of the commercial DNA test for bovine PHA", leading them to conclude that "The absence of the unreported but commercially tested variants for bovine PHA indicates that the PHA‐affected calves presented here are unrelated to those that led to the commercial gene test development."