MCID: GCH018
MIFTS: 26

Gaucher Disease, Perinatal Lethal malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Gaucher Disease, Perinatal Lethal

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Aliases & Descriptions for Gaucher Disease, Perinatal Lethal:

Name: Gaucher Disease, Perinatal Lethal 51 12 67
Perinatal Lethal Gaucher Disease 47 53 26
Gaucher Disease, Perinatal-Lethal Form 47 24
Gaucher Disease Perinatal Lethal 47 69
 
Gaucher Disease Collodion Type 47
Fetal Gaucher Disease 53
Gdpl 69

Characteristics:

Orphanet epidemiological data:

53
perinatal lethal gaucher disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

63
gaucher disease, perinatal lethal:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 608013
Orphanet53 ORPHA85212
ICD10 via Orphanet30 E75.2
MedGen36 C1842704

Summaries for Gaucher Disease, Perinatal Lethal

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UniProtKB/Swiss-Prot:69 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 perinatal lethal gaucher disease, is related to gaucher disease, type i and hydrops fetalis, 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 and spleen.

OMIM:51 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
1gaucher disease, type i11.1
2hydrops fetalis9.9

Symptoms for Gaucher Disease, Perinatal Lethal

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Symptoms by clinical synopsis from OMIM:

608013

Clinical features from OMIM:

608013

Human phenotypes related to Gaucher Disease, Perinatal Lethal:

 63 53 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrops fetalis63 53 hallmark (90%) Very frequent (99-80%) HP:0001789
2 thrombocytopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001873
3 intracranial hemorrhage63 53 hallmark (90%) Very frequent (99-80%) HP:0002170
4 abnormality of the palate63 typical (50%) HP:0000174
5 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
6 abnormality of the eyelid63 typical (50%) HP:0000492
7 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
8 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
9 hypertonia63 53 typical (50%) Frequent (79-30%) HP:0001276
10 splenomegaly63 53 typical (50%) Frequent (79-30%) HP:0001744
11 hepatomegaly63 53 typical (50%) Frequent (79-30%) HP:0002240
12 depressed nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0005280
13 narrow mouth63 HP:0000160
14 open mouth63 HP:0000194
15 everted lower lip vermilion63 HP:0000232
16 microcephaly63 HP:0000252
17 retrognathia63 HP:0000278
18 hypertelorism63 HP:0000316
19 triangular face63 HP:0000325
20 micrognathia63 HP:0000347
21 low-set ears63 HP:0000369
22 anteverted nares63 53 Frequent (79-30%) HP:0000463
23 strabismus63 HP:0000486
24 apathy63 HP:0000741
25 hyperkeratosis63 HP:0000962
26 petechiae63 HP:0000967
27 purpura63 HP:0000979
28 hepatic failure63 HP:0001399
29 intrauterine growth retardation63 HP:0001511
30 ascites63 HP:0001541
31 decreased fetal movement63 53 Very frequent (99-80%) HP:0001558
32 polyhydramnios63 HP:0001561
33 premature birth63 HP:0001622
34 cardiomegaly63 HP:0001640
35 nonimmune hydrops fetalis63 HP:0001790
36 anemia63 HP:0001903
37 dysphagia63 HP:0002015
38 respiratory distress63 HP:0002098
39 apnea63 HP:0002104
40 ventriculomegaly63 HP:0002119
41 opisthotonus63 HP:0002179
42 akinesia63 HP:0002304
43 progressive neurologic deterioration63 HP:0002344
44 hypokinesia63 HP:0002375
45 arthrogryposis multiplex congenita63 53 Very frequent (99-80%) HP:0002804
46 short nose63 HP:0003196
47 decreased beta-glucocerebrosidase protein and activity63 HP:0003656
48 thoracic hypoplasia63 HP:0005257
49 congenital nonbullous ichthyosiform erythroderma63 53 Very frequent (99-80%) HP:0007479
50 desquamation of skin soon after birth63 HP:0007549
51 microtia63 HP:0008551
52 everted upper lip vermilion63 HP:0010803
53 high palate53 Frequent (79-30%)
54 ectropion53 Frequent (79-30%)
55 flexion contracture53 Frequent (79-30%)
56 death in infancy53 Very frequent (99-80%)
57 abnormality of the spleen53 Frequent (79-30%)
58 pancytopenia53 Very frequent (99-80%)
59 fetal akinesia sequence53 Frequent (79-30%)
60 neonatal death53 Very frequent (99-80%)
61 stillbirth53 Very frequent (99-80%)
62 ichthyosis53 Very frequent (99-80%)

UMLS symptoms related to Gaucher Disease, Perinatal Lethal:


hepatomegaly, seizures, apathy, hypokinesia, opisthotonus, respiratory distress

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 Lethal26
2 Gaucher Disease, Perinatal-Lethal Form24

Anatomical Context for Gaucher Disease, Perinatal Lethal

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

35
Skin, Spleen

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 12)
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)SNV, CompoundHeterozygotePathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
3GBANM_000157.3(GBA): c.476G> A (p.Arg159Gln)SNVPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
4GBANM_001005741.2(GBA): c.1309G> T (p.Val437Phe)SNVPathogenicrs121908310GRCh37Chr 1, 155205551: 155205551
5GBANM_001005741.2(GBA): c.532delC (p.Pro178Leufs)deletionPathogenicrs397518434GRCh37Chr 1, 155208364: 155208364
6GBANM_001005741.2(GBA): c.1049A> G (p.His350Arg)SNVPathogenicrs78198234GRCh37Chr 1, 155206211: 155206211
7GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)SNVPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
8GBANM_000157.3(GBA): c.887G> A (p.Arg296Gln)SNVPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
9GBANM_000157.3(GBA): c.509G> T (p.Arg170Leu)SNVPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
10GBANM_001005741.2(GBA): c.870C> A (p.Phe290Leu)SNVPathogenicrs121908313GRCh37Chr 1, 155207261: 155207261
11GBAGBA, IVS10DS, G-A, -1SNVPathogenicChr na, -1: -1
12GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)SNV, HaplotypePathogenicrs1064651GRCh37Chr 1, 155205518: 155205518

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet