MCID: GCH018
MIFTS: 25

Gaucher Disease, Perinatal Lethal malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Gaucher Disease, Perinatal Lethal

About this section

Aliases & Descriptions for Gaucher Disease, Perinatal Lethal:

Name: Gaucher Disease, Perinatal Lethal 49 11 65
Gaucher Disease, Perinatal-Lethal Form 45 22
Perinatal Lethal Gaucher Disease 45 24
 
Gaucher Disease Perinatal Lethal 45 67
Gaucher Disease Collodion Type 45
Gdpl 67


Classifications:



External Ids:

OMIM49 608013
MedGen34 C1842704

Summaries for Gaucher Disease, Perinatal Lethal

About this section
UniProtKB/Swiss-Prot:67 Gaucher disease perinatal lethal: Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.

MalaCards based summary: Gaucher Disease, Perinatal Lethal, also known as gaucher disease, perinatal-lethal form, is related to gaucher disease, type i and gaucher's disease, and has symptoms including hydrops fetalis, thrombocytopenia and intracranial hemorrhage. An important gene associated with Gaucher Disease, Perinatal Lethal is GBA (Glucosidase, Beta, Acid). Affiliated tissues include skin.

OMIM:49 Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (230900) (Mignot et... (608013) more...

Related Diseases for Gaucher Disease, Perinatal Lethal

About this section

Diseases related to Gaucher Disease, Perinatal Lethal via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease, type i10.3
2gaucher's disease10.3
3hydrops fetalis10.3
4fetal gaucher disease10.3

Symptoms for Gaucher Disease, Perinatal Lethal

About this section

Symptoms by clinical synopsis from OMIM:

608013

Clinical features from OMIM:

608013

HPO human phenotypes related to Gaucher Disease, Perinatal Lethal:

(show all 58)
id Description Frequency HPO Source Accession
1 hydrops fetalis hallmark (90%) HP:0001789
2 thrombocytopenia hallmark (90%) HP:0001873
3 intracranial hemorrhage hallmark (90%) HP:0002170
4 abnormality of the palate typical (50%) HP:0000174
5 low-set, posteriorly rotated ears typical (50%) HP:0000368
6 abnormality of the eyelid typical (50%) HP:0000492
7 seizures typical (50%) HP:0001250
8 muscular hypotonia typical (50%) HP:0001252
9 hypertonia typical (50%) HP:0001276
10 splenomegaly typical (50%) HP:0001744
11 hepatomegaly typical (50%) HP:0002240
12 depressed nasal bridge typical (50%) HP:0005280
13 autosomal recessive inheritance HP:0000007
14 narrow mouth HP:0000160
15 open mouth HP:0000194
16 everted lower lip vermilion HP:0000232
17 microcephaly HP:0000252
18 retrognathia HP:0000278
19 hypertelorism HP:0000316
20 triangular face HP:0000325
21 micrognathia HP:0000347
22 low-set ears HP:0000369
23 anteverted nares HP:0000463
24 strabismus HP:0000486
25 apathy HP:0000741
26 hyperkeratosis HP:0000962
27 petechiae HP:0000967
28 purpura HP:0000979
29 seizures HP:0001250
30 hepatic failure HP:0001399
31 intrauterine growth retardation HP:0001511
32 ascites HP:0001541
33 decreased fetal movement HP:0001558
34 polyhydramnios HP:0001561
35 premature birth HP:0001622
36 cardiomegaly HP:0001640
37 splenomegaly HP:0001744
38 nonimmune hydrops fetalis HP:0001790
39 thrombocytopenia HP:0001873
40 anemia HP:0001903
41 dysphagia HP:0002015
42 respiratory distress HP:0002098
43 apnea HP:0002104
44 ventriculomegaly HP:0002119
45 opisthotonus HP:0002179
46 hepatomegaly HP:0002240
47 akinesia HP:0002304
48 progressive neurologic deterioration HP:0002344
49 hypokinesia HP:0002375
50 arthrogryposis multiplex congenita HP:0002804
51 short nose HP:0003196
52 decreased beta-glucocerebrosidase protein and activity HP:0003656
53 thoracic hypoplasia HP:0005257
54 depressed nasal bridge HP:0005280
55 congenital nonbullous ichthyosiform erythroderma HP:0007479
56 desquamation of skin soon after birth HP:0007549
57 microtia HP:0008551
58 everted upper lip vermilion HP:0010803

Drugs & Therapeutics for Gaucher Disease, Perinatal Lethal

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Gaucher Disease, Perinatal Lethal

Genetic Tests for Gaucher Disease, Perinatal Lethal

About this section

Genetic tests related to Gaucher Disease, Perinatal Lethal:

id Genetic test Affiliating Genes
1 Gaucher Disease, Perinatal-Lethal Form22
2 Gaucher Disease, Perinatal Lethal24

Anatomical Context for Gaucher Disease, Perinatal Lethal

About this section

MalaCards organs/tissues related to Gaucher Disease, Perinatal Lethal:

33
Skin

Animal Models for Gaucher Disease, Perinatal Lethal or affiliated genes

About this section

Publications for Gaucher Disease, Perinatal Lethal

About this section

Variations for Gaucher Disease, Perinatal Lethal

About this section

Clinvar genetic disease variations for Gaucher Disease, Perinatal Lethal:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_000157.3(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
2GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
3GBANM_001005741.2(GBA): c.1309G> T (p.Val437Phe)single nucleotide variantPathogenicrs121908310GRCh37Chr 1, 155205551: 155205551
4GBANM_000157.3(GBA): c.1263_1317del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205543: 155205597
5GBANM_001005741.2(GBA): c.532delC (p.Pro178Leufs)deletionPathogenicrs397518434GRCh37Chr 1, 155208364: 155208364
6GBANM_001005741.2(GBA): c.1049A> G (p.His350Arg)single nucleotide variantPathogenicrs78198234GRCh37Chr 1, 155206211: 155206211
7GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)single nucleotide variantPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
8GBANM_000157.3(GBA): c.887G> A (p.Arg296Gln)single nucleotide variantPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
9GBANM_000157.3(GBA): c.509G> T (p.Arg170Leu)single nucleotide variantPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
10GBANM_001005741.2(GBA): c.870C> A (p.Phe290Leu)single nucleotide variantPathogenicrs121908313GRCh37Chr 1, 155207261: 155207261
11GBAGBA, IVS10DS, G-A, -1single nucleotide variantPathogenic
12GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518

Expression for genes affiliated with Gaucher Disease, Perinatal Lethal

About this section
Search GEO for disease gene expression data for Gaucher Disease, Perinatal Lethal.

Pathways for genes affiliated with Gaucher Disease, Perinatal Lethal

About this section

GO Terms for genes affiliated with Gaucher Disease, Perinatal Lethal

About this section

Sources for Gaucher Disease, Perinatal Lethal

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet