Familial Fatal Acute Respiratory Distress Syndrome (ARDS)
Breed: Dalmatian
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Familial Fatal Acute Respiratory Distress Syndrome (ARDS)
OMIA
101
Gene Name
ANLN
Mutation
c.31C>T
Mutation 2
p.R11*
Mutation 3
g.47812143
Test Type
Genetic Disease/Disorder
Details
Acute respiratory distress syndrome (ARDS) is an inherited respiratory disorder that affects the Dalmatian dog breed. Generally, ARDS is referred to as acute, life-threatening respiratory failure with high mortality rate. Among dogs, a lethal outcome of ARDS reaches almost 100%. Except for genetics, other factors that contribute to the development of ARDS have been established. Primary factors cause direct injury to the lung; such as aspiration pneumonia, pulmonary contusions, or inhalation of harmful gases. Secondary factors cause the injury of lungs through activation of systemic inflammation mechanisms. Such factors are sepsis, pancreatitis, parvovirus enteritis, nonthoracic trauma, thermal burns, or paraquat ingestion. Characteristics and Symptoms General symptoms of ARDS in dogs are difficult breathing, coughing, nasal discharge, fever, blue discoloration of the skin (cyanosis), or other signs related to underlying disease. Pulmonary manifestations include multiple foci of marked atypical hyperplasia, patchy ongoing fibrosis with myofibroblastic metaplasia, smooth muscle hyperplasia and sometimes hyperplasia of type II pneumocytes, as well as acute alveolar edema. Diagnosis is based on presenting clinical signs, thoracic radiographs, and exclusion of other causes of respiratory disease. Radiographs may show pericardial effusion, thoracic effusion, air bronchograms and free air within the lung cavity. A differential diagnosis would include pulmonary interstitial fibrosis, chronic bronchitis, kennel cough, tracheal collapse, bronchomalacia and bronchial carcinoma.
Published
Holopainen S, HytoÈnen MK, SyrjaÈ P,Arumilli M, JaÈrvinen A-K, RajamaÈki M, et al. (2017): ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. PLoS Genet 13(2): e1006625.
Body/System/Process
Respiratory
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
Nature of test
mutation test
Inheritance
AR
FCI Number
153
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
ANLN
Mutation
unpublished
Nature of test
mutation test
FCI Number
153
GTP Breed
Dalmatian
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ANLN
Mutation
c.31C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA