Gaucher Disease Perinatal Lethal malady

MalaCards: Gaucher Disease Perinatal Lethal, also known as gaucher disease, perinatal-lethal form, is related to gaucher disease type 1 and gaucher disease type 2. An important gene associated with Gaucher Disease Perinatal Lethal is GBA (glucosidase, beta, acid). The drug cycloserine has been mentioned in the context of this disorder.

OMIM: 608013

gaucher disease perinatal lethal 30 gaucher disease, perinatal-lethal form 30 16 gaucher disease, perinatal lethal 33

perinatal lethal gaucher disease 30 gaucher disease collodion type 30 gaucher disease 43

Diseases related to gaucher disease perinatal lethal by text searches and GeneDecks gene sharing:

(show all 43)

id	Related Disease	Score	Top Affiliating Genes
1	gaucher disease type 1	10.1
2	gaucher disease type 2	9.6
3	gaucher disease type 3	9.3
4	gaucher's disease	7.9
5	gaucher disease type 2 (acute)	7.5
6	gaucher disease type 3 (subacute/chronic)	7.5
7	pseudo-gaucher disease	7.5
8	gaucher disease, cardiovascular form	7.2
9	gaucher disease, type iiic	7.2
10	gaucher disease, atypical	7.2
11	gaucher disease with cardiovascular calcification	7.2
12	gaucher disease, atypical, due to saposin c deficiency	7.2
13	cholesterol	6.6
14	gangliosidosis	6.6
15	hypertension	6.6
16	ichthyosis	6.6
17	krabbe disease	6.6
18	pulmonary hypertension	6.6
19	sphingolipidosis	6.6
20	splenomegaly	6.6
21	chitotriosidase deficiency	5.7
22	osteoporosis	5.7
23	hematopoiesis	5.7
24	pancytopenia	5.7
25	hepatopulmonary syndrome	5.7
26	progressive myoclonus epilepsy	5.7
27	hydrops fetalis	5.7
28	seizures	5.7
29	thrombocytopenia	5.7
30	leukodystrophy	5.7
31	thrombophilia	5.7
32	multiple myeloma	5.7
33	tay-sachs disease	5.7
34	multiple sclerosis	5.7
35	uveitis	5.7
36	metabolic disorders	5.7
37	visual seizure	5.7
38	metachromatic leukodystrophy	5.7
39	adrenoleukodystrophy	5.7
40	myoclonus epilepsy	5.7
41	myoclonus	5.7
42	myeloma	5.7
43	niemann-pick disease	5.7

Clinical features from OMIM: 608013

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 cycloserine

Genes related to gaucher disease perinatal lethal according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	GBA	glucosidase, beta, acid	11.1	Disorders