The detail information of Ichthyosis, NIPAL4-related
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2017

Species-specific name: autosomal recessive congenital ichthyosis

Species-specific symbol: ARCI

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB264 American Bulldog 55.9-68.6 cm (male), 50.8 to 63.5 cm (female) 34-45.5kg(male),27.2-36.3kg(female) United States
Associated Gene
Symbol Description Species Position Other Links
NIPAL4 NIPA-like domain containing 4 Canis lupus familiaris Chr4 : 53184445 - 53171446 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Briand,A.,Cochet-Faivre,N.,Reyes-Gomez,E.,Jaraud-Darnault,A.,Tiret,L.,Chevallier,L.: :
NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. Vet Med Sci 5:112-117, 2019.
Pubmed reference: 30741495 . DOI: 10.1002/vms3.149 .
2017 Casal,M.L.,Wang,P.,Mauldin,E.A.,Lin,G.,Henthorn,P.S.: :
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. PLoS One 12:e0170708, 2017.
Pubmed reference: 28122049 . DOI: 10.1371/journal.pone.0170708 .
2015 Mauldin,E.A.,Wang,P.,Evans,E.,Cantner,C.A.,Ferracone,J.D.,Credille,K.M.,Casal,M.L.: :
Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency. Vet Pathol 52:654-62, 2015.
Pubmed reference: 25322746 . DOI: 10.1177/0300985814551425 .
2013 Mauldin,E.A.: :
Canine ichthyosis and related disorders of cornification. Vet Clin North Am Small Anim Pract 43:89-97, 2013.
Pubmed reference: 23182326 . DOI: 10.1016/j.cvsm.2012.09.005 .