MCID: GCH018
MIFTS: 23

Gaucher Disease, Perinatal Lethal malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Gaucher Disease, Perinatal Lethal

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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

Characteristics:

HPO:

61
gaucher disease, perinatal lethal:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 608013
MedGen34 C1842704
UMLS65 C1842704

Summaries for Gaucher Disease, Perinatal Lethal

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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 fetal gaucher disease 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 (Glucosylceramidase Beta). 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

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

idRelated DiseaseScoreTop Affiliating Genes
1fetal gaucher disease11.8
2gaucher's disease10.6

Symptoms for Gaucher Disease, Perinatal Lethal

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Symptoms by clinical synopsis from OMIM:

608013

Clinical features from OMIM:

608013

HPO human phenotypes related to Gaucher Disease, Perinatal Lethal:

(show all 57)
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 narrow mouth HP:0000160
14 open mouth HP:0000194
15 everted lower lip vermilion HP:0000232
16 microcephaly HP:0000252
17 retrognathia HP:0000278
18 hypertelorism HP:0000316
19 triangular face HP:0000325
20 micrognathia HP:0000347
21 low-set ears HP:0000369
22 anteverted nares HP:0000463
23 strabismus HP:0000486
24 apathy HP:0000741
25 hyperkeratosis HP:0000962
26 petechiae HP:0000967
27 purpura HP:0000979
28 seizures HP:0001250
29 hepatic failure HP:0001399
30 intrauterine growth retardation HP:0001511
31 ascites HP:0001541
32 decreased fetal movement HP:0001558
33 polyhydramnios HP:0001561
34 premature birth HP:0001622
35 cardiomegaly HP:0001640
36 splenomegaly HP:0001744
37 nonimmune hydrops fetalis HP:0001790
38 thrombocytopenia HP:0001873
39 anemia HP:0001903
40 dysphagia HP:0002015
41 respiratory distress HP:0002098
42 apnea HP:0002104
43 ventriculomegaly HP:0002119
44 opisthotonus HP:0002179
45 hepatomegaly HP:0002240
46 akinesia HP:0002304
47 progressive neurologic deterioration HP:0002344
48 hypokinesia HP:0002375
49 arthrogryposis multiplex congenita HP:0002804
50 short nose HP:0003196
51 decreased beta-glucocerebrosidase protein and activity HP:0003656
52 thoracic hypoplasia HP:0005257
53 depressed nasal bridge HP:0005280
54 congenital nonbullous ichthyosiform erythroderma HP:0007479
55 desquamation of skin soon after birth HP:0007549
56 microtia HP:0008551
57 everted upper lip vermilion HP:0010803

Drugs & Therapeutics for Gaucher Disease, Perinatal Lethal

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Interventional clinical trials:

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

Genetic Tests for Gaucher Disease, Perinatal Lethal

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Genetic tests related to Gaucher Disease, Perinatal Lethal:

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

Anatomical Context for Gaucher Disease, Perinatal Lethal

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

33
Skin

Animal Models for Gaucher Disease, Perinatal Lethal or affiliated genes

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Publications for Gaucher Disease, Perinatal Lethal

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Variations for Gaucher Disease, Perinatal Lethal

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Clinvar genetic disease variations for Gaucher Disease, Perinatal Lethal:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205541: 155205595
2GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
3GBANM_000157.3(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
4GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
5GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
6GBANM_001005741.2(GBA): c.1309G> T (p.Val437Phe)single nucleotide variantPathogenicrs121908310GRCh37Chr 1, 155205551: 155205551
7GBANM_001005741.2(GBA): c.532delC (p.Pro178Leufs)deletionPathogenicrs397518434GRCh37Chr 1, 155208364: 155208364
8GBANM_001005741.2(GBA): c.1049A> G (p.His350Arg)single nucleotide variantPathogenicrs78198234GRCh37Chr 1, 155206211: 155206211
9GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)single nucleotide variantPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
10GBANM_000157.3(GBA): c.887G> A (p.Arg296Gln)single nucleotide variantPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
11GBANM_000157.3(GBA): c.509G> T (p.Arg170Leu)single nucleotide variantPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
12GBANM_001005741.2(GBA): c.870C> A (p.Phe290Leu)single nucleotide variantPathogenicrs121908313GRCh37Chr 1, 155207261: 155207261
13GBAGBA, IVS10DS, G-A, -1single nucleotide variantPathogenic
14GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
15GBANM_001005741.2(GBA): c.1483G> C (p.Ala495Pro)single nucleotide variantPathogenicrs368060GRCh37Chr 1, 155205008: 155205008
16GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantPathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher Disease, Perinatal Lethal

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

Pathways for genes affiliated with Gaucher Disease, Perinatal Lethal

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GO Terms for genes affiliated with Gaucher Disease, Perinatal Lethal

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Sources for Gaucher Disease, Perinatal Lethal

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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