Disease #01806 (GD1 (Gaucher disease, type I), OMIM:230800)

Official abbreviation GD1
Name Gaucher disease, type I
OMIM ID 230800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 29
Phenotype entries for this disease 27
Associated with 1 gene GBA
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-06-13 22:17:47 +02:00 (CEST)


Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00435164 - PubMed: Cormand 1998 Ages 27, 68, 4, 56, 58, 82 - - Spain - - - - - GD1 Splenomegaly, three asymptomatic; most very mild GBA GBA 1 6 Jimena Urbano
00435165 - PubMed: Cormand 1998 Ages 32, 33, 29, 25, 19, 48, 31, 5, 24, 23, 60 and 3 ? - Spain - - - - - GD1 All splenomegaly, 6 patients also hepatomegaly, 7 patients with pancytopenia, 4with bone disease, one (I.39) asymptomatic at present age of 05y GBA GBA 2 12 Jimena Urbano
00435166 - PubMed: Cormand 1998 Ages 28, 42 and 13 ? - Spain - - - - - GD1 I.13: splenomegaly, hepatomegaly, thrombocytopenia, cystalgia. I.30: splenomegaly, thrombocytopenia, leukopenia, chronic diarrhea, skin pigmentation. I.31:splenomegaly, hepatomegaly, thrombocytopenia, thrombocytopenia, leukopenia, stature and pubertal developmentdelayed, portal hypertension, irregularity of right humerus GBA GBA 4 3 Jimena Urbano
00435167 PatI.14 PubMed: Sarria 1999 - - - Spain - - - - - GD1 - GBA GBA 1 1 Jimena Urbano
00435184 - PubMed: Cormand 1998 Ages 31 and 27 - - Spain - - - - - GD1 Both: splenomegaly, hepatomegaly, epistaxis. I.8: pancytopenia, femur deformity. I.24: thrombocytopenia GBA GBA 2 2 Jimena Urbano
00435185 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly GBA GBA 1 1 Jimena Urbano
00435186 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, macrocephaly GBA GBA 1 1 Jimena Urbano
00435187 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, thrombocytopenia, anemia, bone pain GBA GBA 2 1 Jimena Urbano
00435188 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, thrombocytopenia GBA GBA 2 1 Jimena Urbano
00435189 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, leukopenia, splenectomy at 9 yr GBA GBA 2 1 Jimena Urbano
00435190 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, epistaxis, easy bruising, femur deformity, conjunctival pingueculae GBA GBA 2 1 Jimena Urbano
00435191 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, femur infarcts GBA GBA 2 1 Jimena Urbano
00435193 - PubMed: Cormand 1998 Affected brother (46y) with splenomegaly, hepatomegaly, thrombocytopenia, and pingueculae. - - Spain - - - - - GD1 Atypical parkinson GBA GBA 2 1 Jimena Urbano
00435194 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, digestive hemorrhagia, ulcus gastroduodenal, hepatopathy, skin pigmentation, bone deformities GBA GBA 2 1 Jimena Urbano
00435195 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, mild pancytopenia, epistaxis, bone crisis, femur deformity, skin pigmentation GBA GBA 2 1 Jimena Urbano
00435196 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, anemia, bone disease GBA GBA 2 1 Jimena Urbano
00435197 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, pancytopenia, bone deformity, aseptic necrosis GBA GBA 2 1 Jimena Urbano
00435198 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 - GBA GBA 2 1 Jimena Urbano
00435199 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, anemia, thrombocytopenia, stature development delayed, jaundice, skin pigmentation GBA GBA 2 1 Jimena Urbano
00435200 - PubMed: Cormand 1998 Affected sibling (23 y) with same symptoms plus bone disease. - - Spain - - - - - GD1 splenomegaly, thrombocytopenia, familial factor IX deficiency GBA GBA 2 1 Jimena Urbano
00435204 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, pancytopenia GBA GBA 2 1 Jimena Urbano
00435205 - PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly, epistaxis, pancytopenia GBA GBA 2 1 Jimena Urbano
00435206 PatI.22 PubMed: Cormand 1998 - - - Spain - - - - - GD1 splenomegaly, hepatomegaly GBA GBA 2 1 Jimena Urbano
00440091 MSM45 PubMed: Latham 1991 - - - United States Hispanic - - - - GD1 see paper; ..., 5y-deceased (pulmonary complication); severe visceral involvement GBA GBA 1 1 Johan den Dunnen
00440092 MSM48 PubMed: Latham 1991 - - - United States Italy;Ireland - - - - GD1 see paper; ..., moderate splenomegaly GBA GBA 2 1 Johan den Dunnen
00440093 MSM49 PubMed: Latham 1991 - - - United States Italy - - - - GD1 see paper; ..., severe bone disease GBA GBA 2 1 Johan den Dunnen
00440094 MSM50 PubMed: Latham 1991 - - - United States Greece - - - - GD1 see paper; ..., mild splenomegaly GBA GBA 2 1 Johan den Dunnen
00440095 MSM53 PubMed: Latham 1991 - - - United States jew-Sephardic;jew-Ashkenazi - - - - GD1 see paper; ..., severe splenomegaly GBA GBA 2 1 Johan den Dunnen
00440110 PatDW PubMed: Zimran 1990 - F - United States - - - - - GD1 see paper; ..., 9y-splenectomy; 10y-episodic bone pain, no fractures; 21y-massive hepatomegal, mild abnormalities function tests GBA GBA 2 1 Johan den Dunnen
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