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 50 12 66
Perinatal Lethal Gaucher Disease 46 52 25
Gaucher Disease, Perinatal-Lethal Form 46 23
Gaucher Disease Perinatal Lethal 46 68
 
Gaucher Disease Collodion Type 46
Fetal Gaucher Disease 52
Gdpl 68

Characteristics:

Orphanet epidemiological data:

52
perinatal lethal gaucher disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

62
gaucher disease, perinatal lethal:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 608013
Orphanet52 ORPHA85212
ICD10 via Orphanet29 E75.2
MedGen35 C1842704

Summaries for Gaucher Disease, Perinatal Lethal

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UniProtKB/Swiss-Prot:68 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'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 and spleen.

OMIM:50 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's disease10.2

Symptoms for Gaucher Disease, Perinatal Lethal

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Symptoms by clinical synopsis from OMIM:

608013

Clinical features from OMIM:

608013

Symptoms:

 52 (show all 24)
  • high palate
  • low-set, posteriorly rotated ears
  • anteverted nares
  • ectropion
  • seizures
  • muscular hypotonia
  • hypertonia
  • flexion contracture
  • death in infancy
  • decreased fetal movement
  • abnormality of the spleen
  • splenomegaly
  • hydrops fetalis
  • thrombocytopenia
  • pancytopenia
  • fetal akinesia sequence
  • intracranial hemorrhage
  • hepatomegaly
  • arthrogryposis multiplex congenita
  • neonatal death
  • stillbirth
  • depressed nasal bridge
  • congenital nonbullous ichthyosiform erythroderma
  • ichthyosis

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

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 Lethal25
2 Gaucher Disease, Perinatal-Lethal Form23

Anatomical Context for Gaucher Disease, Perinatal Lethal

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

34
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 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.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
4GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
5GBANM_000157.3(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
6GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
7GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
8GBANM_001005741.2(GBA): c.1309G> T (p.Val437Phe)single nucleotide variantPathogenicrs121908310GRCh37Chr 1, 155205551: 155205551
9GBANM_001005741.2(GBA): c.532delC (p.Pro178Leufs)deletionPathogenicrs397518434GRCh37Chr 1, 155208364: 155208364
10GBANM_001005741.2(GBA): c.1049A> G (p.His350Arg)single nucleotide variantPathogenicrs78198234GRCh37Chr 1, 155206211: 155206211
11GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)single nucleotide variantPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
12GBANM_000157.3(GBA): c.887G> A (p.Arg296Gln)single nucleotide variantPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
13GBANM_000157.3(GBA): c.509G> T (p.Arg170Leu)single nucleotide variantPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
14GBANM_001005741.2(GBA): c.870C> A (p.Phe290Leu)single nucleotide variantPathogenicrs121908313GRCh37Chr 1, 155207261: 155207261
15GBAGBA, IVS10DS, G-A, -1single nucleotide variantPathogenic
16GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet