Disease #03964

Official abbreviation ILLD
Name lung and liver disease, interstitial (ILLD, liver failure syndrome, infantile, type 2)
OMIM ID 615486
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene MARS
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00079366 - PubMed: van Meel 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - 0 - - ILLD Failure to thrive; Interstitial lung disease; Steatosis; Fibrosis; Cholestasis; Bridging necrosis; Hemosiderin-laden macrophages in the portal tract; Vomit; Hypothyroidism; Anemia; Arrest of RBC mature; Thrombocytosis; Abnormal liver enzymes; Aminoaciduria; Lactic acidosis, intermittent; MARS MARS 2 1 Guorui Hu
00079367 - PubMed: Hadchouel 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents (father from France, mother Reunion Islands) M no France;Reunion - >22y 0 - - ILLD see paper; ... MARS MARS 3 1 Guorui Hu
00079370 - - - - - China - - 0 - - ILLD - MARS MARS 2 2 Guorui Hu
00089179 - PubMed: Hadchouel 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents F yes Tunisia - - 0 - - ILLD see paper; ... MARS MARS 1 2 Johan den Dunnen
00089181 - PubMed: Hadchouel 2015 study of 29 patients, summary phenotype data F;M - - - - 0 - - ILLD failure to thrive 22/29; respiratory insufficiency 14/29; dyspnea 28/29; cough 7/29; interstitial lung disease; lung fibrosis 12/18; hepatomegaly 25/28; liver dysfunction 24/28; steatosis 5/28; fibrosis 1/28; cirrhosis 8/28; digital clubbing 8/29 MARS - 0 1 Guorui Hu
00089182 - PubMed: Hadchouel 2015 26 patients from the islands of Reunion, Comoros, Madagascar - - Comoros;Madagascar;Reunion - - 0 - - ILLD see paper; ... MARS MARS 2 26 Guorui Hu
00153305 - - - M no - - - 0 - - ILLD HP:0006530 HP:0000821 HP:0001903 HP:0002093 - MARS 2 1 Tamar Harel
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