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
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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