MCID: GCH018
MIFTS: 31

Gaucher Disease, Perinatal Lethal

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

Aliases & Classifications for Gaucher Disease, Perinatal Lethal

MalaCards integrated aliases for Gaucher Disease, Perinatal Lethal:

Name: Gaucher Disease, Perinatal Lethal 57 29 13 6 40 73
Gaucher Disease Perinatal Lethal 53 75
Perinatal Lethal Gaucher Disease 53 59
Gaucher Disease, Collodion Type 57 12
Fetal Gaucher Disease 12 59
Gaucher Disease, Perinatal-Lethal Form 53
Gaucher's Disease Perinatal Lethal 12
Gaucher Disease Collodion Type 53
Gdpl 75

Characteristics:

Orphanet epidemiological data:

59
fetal gaucher disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in utero (30%)
hydrops fetalis is associated with death in utero (90%) or within 2 days of birth
in the absence of hydrops, death occurs within 3 months
most severe form of gaucher disease
considered to be a severe form of gaucher disease type ii


HPO:

32
gaucher disease, perinatal lethal:
Mortality/Aging death in infancy neonatal death stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Perinatal Lethal

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85212Disease definitionFetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).EpidemiologyIt is very rare with an incidence of less than 5% of GD cases.Clinical descriptionThis form is particularly severe. The disease manifests in the fetus with a decrease or absence of fetal movements, fetal and placental anasarca, hepatosplenomegaly, ichthyosis, arthrogryposis, facial dysmorphism and fetal thrombocytopenia. Death usually occurs in utero or shortly after birth (EtiologyFetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. The enzyme deficiency resulting from the mutation leads to accumulation of glucosylceramide (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and bone marrow (Gaucher cells).Diagnostic methodsDiagnosis is made by demonstrating a deficiency in the enzymatic activity of glucocerebrosidase.Antenatal diagnosisBiochemical prenatal diagnosis is recommended for couples who have already had a child diagnosed with Fetal Gaucher disease or GD type 2. It can be carried out by measuring the enzyme activity in chorionic villus samples at 10-12 weeks of pregnancy or in amniocytes in culture towards 16 weeks of pregnancy.Genetic counselingThe transmission is autosomal recessive.Management and treatmentThere is no treatment for this severe form of the disease.Visit the Orphanet disease page for more resources.

MalaCards based summary : Gaucher Disease, Perinatal Lethal, also known as gaucher disease perinatal lethal, is related to gaucher's disease, and has symptoms including apnea, seizures and opisthotonus. An important gene associated with Gaucher Disease, Perinatal Lethal is GBA (Glucosylceramidase Beta). Affiliated tissues include liver, spleen and bone, and related phenotypes are high palate and seizures

OMIM : 57 Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (230900) (Mignot et al., 2003). (608013)

UniProtKB/Swiss-Prot : 75 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.

Disease Ontology : 12 A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22.

Related Diseases for Gaucher Disease, Perinatal Lethal

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

# Related Disease Score Top Affiliating Genes
1 gaucher's disease 11.5

Symptoms & Phenotypes for Gaucher Disease, Perinatal Lethal

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus

Neurologic Central Nervous System:
seizures
hypokinesia
apathy
akinesia
progressive neurologic deterioration
more
AbdomenSpleen:
splenomegaly

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
ichthyosis
purpura
petechiae
desquamation of skin soon after birth
collodion skin
more
Abdomen External Features:
ascites

Head And Neck Face:
micrognathia
retrognathia
triangular face
dysmorphic facies (30%)

Respiratory:
respiratory distress
apnea

Head And Neck Mouth:
open mouth
microstomia
everted lips

Prenatal Manifestations Delivery:
premature birth

Skeletal:
arthrogryposis

Laboratory Abnormalities:
decreased beta-glucocerebrosidase protein and activity
gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system

Respiratory Lung:
lung hypoplasia with fetal hydrops

Head And Neck Ears:
low-set ears
small ears
malformed ears

Abdomen Gastrointestinal:
dysphagia

Abdomen Liver:
hepatomegaly
liver failure

Head And Neck Nose:
anteverted nares
small nose
flat nasal bridge

Cardiovascular Heart:
cardiomegaly

Hematology:
anemia
thrombocytopenia

Skin Nails Hair Skin Histology:
hyperkeratosis

Prenatal Manifestations:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
hydrops fetalis, nonimmune

Chest External Features:
small thorax

Growth Other:
intrauterine growth retardation (iugr)

Prenatal Manifestations Movement:
decreased fetal movements


Clinical features from OMIM:

608013

Human phenotypes related to Gaucher Disease, Perinatal Lethal:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
5 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
6 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
7 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
8 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
9 pancytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001876
10 hydrops fetalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001789
11 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
12 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
13 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
14 intracranial hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002170
15 decreased fetal movement 59 32 Very frequent (99-80%) HP:0001558
16 ectropion 59 32 frequent (33%) Frequent (79-30%) HP:0000656
17 congenital nonbullous ichthyosiform erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007479
18 fetal akinesia sequence 59 32 frequent (33%) Frequent (79-30%) HP:0001989
19 hypertelorism 32 HP:0000316
20 low-set ears 32 HP:0000369
21 dysphagia 32 HP:0002015
22 short nose 32 HP:0003196
23 microtia 32 HP:0008551
24 microcephaly 32 HP:0000252
25 ichthyosis 59 Very frequent (99-80%)
26 flexion contracture 59 Frequent (79-30%)
27 cardiomegaly 32 HP:0001640
28 ascites 32 HP:0001541
29 anemia 32 HP:0001903
30 micrognathia 32 HP:0000347
31 hyperkeratosis 32 HP:0000962
32 retrognathia 32 HP:0000278
33 strabismus 32 HP:0000486
34 death in infancy 59 Very frequent (99-80%)
35 respiratory distress 32 HP:0002098
36 everted lower lip vermilion 32 HP:0000232
37 intrauterine growth retardation 32 HP:0001511
38 apnea 32 HP:0002104
39 ventriculomegaly 32 HP:0002119
40 narrow mouth 32 HP:0000160
41 open mouth 32 HP:0000194
42 polyhydramnios 32 HP:0001561
43 abnormality of the spleen 59 Frequent (79-30%)
44 petechiae 32 HP:0000967
45 hepatic failure 32 HP:0001399
46 everted upper lip vermilion 32 HP:0010803
47 triangular face 32 HP:0000325
48 hypokinesia 32 HP:0002375
49 premature birth 32 HP:0001622
50 thoracic hypoplasia 32 HP:0005257

UMLS symptoms related to Gaucher Disease, Perinatal Lethal:


apnea, seizures, opisthotonus, petechiae of skin, respiratory distress

Drugs & Therapeutics for Gaucher Disease, Perinatal Lethal

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

Genetic Tests for Gaucher Disease, Perinatal Lethal

Genetic tests related to Gaucher Disease, Perinatal Lethal:

# Genetic test Affiliating Genes
1 Gaucher Disease, Perinatal Lethal 29 GBA

Anatomical Context for Gaucher Disease, Perinatal Lethal

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

41
Liver, Spleen, Bone, Bone Marrow, Skin, Lung, Lymph Node

Publications for Gaucher Disease, Perinatal Lethal

Articles related to Gaucher Disease, Perinatal Lethal:

# Title Authors Year
1
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the <i>GBA</i> Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. ( 29854527 )
2018
2
Perinatal-lethal Gaucher disease presenting as hydrops fetalis. ( 26327947 )
2015
3
Perinatal-lethal Gaucher disease. ( 12838552 )
2003

Variations for Gaucher Disease, Perinatal Lethal

ClinVar genetic disease variations for Gaucher Disease, Perinatal Lethal:

6
(show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh38 Chromosome 1, 155235252: 155235252
3 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
4 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh38 Chromosome 1, 155235843: 155235843
5 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
6 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh38 Chromosome 1, 155238629: 155238629
7 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
8 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh38 Chromosome 1, 155235727: 155235727
9 GBA NM_001005741.2(GBA): c.1309G> T (p.Val437Phe) single nucleotide variant Pathogenic rs121908310 GRCh37 Chromosome 1, 155205551: 155205551
10 GBA NM_001005741.2(GBA): c.1309G> T (p.Val437Phe) single nucleotide variant Pathogenic rs121908310 GRCh38 Chromosome 1, 155235760: 155235760
11 GBA NM_001005741.2(GBA): c.532delC (p.Pro178Leufs) deletion Pathogenic rs397518434 GRCh37 Chromosome 1, 155208364: 155208364
12 GBA NM_001005741.2(GBA): c.532delC (p.Pro178Leufs) deletion Pathogenic rs397518434 GRCh38 Chromosome 1, 155238573: 155238573
13 GBA NM_001005741.2(GBA): c.1049A> G (p.His350Arg) single nucleotide variant Pathogenic rs78198234 GRCh37 Chromosome 1, 155206211: 155206211
14 GBA NM_001005741.2(GBA): c.1049A> G (p.His350Arg) single nucleotide variant Pathogenic rs78198234 GRCh38 Chromosome 1, 155236420: 155236420
15 GBA NM_001005741.2(GBA): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs121908309 GRCh37 Chromosome 1, 155206068: 155206068
16 GBA NM_001005741.2(GBA): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs121908309 GRCh38 Chromosome 1, 155236277: 155236277
17 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
18 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh38 Chromosome 1, 155237453: 155237453
19 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh37 Chromosome 1, 155208387: 155208387
20 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh38 Chromosome 1, 155238596: 155238596
21 GBA NM_001005741.2(GBA): c.870C> A (p.Phe290Leu) single nucleotide variant Pathogenic rs121908313 GRCh37 Chromosome 1, 155207261: 155207261
22 GBA NM_001005741.2(GBA): c.870C> A (p.Phe290Leu) single nucleotide variant Pathogenic rs121908313 GRCh38 Chromosome 1, 155237470: 155237470
23 GBA GBA, IVS10DS, G-A, -1 single nucleotide variant Pathogenic
24 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh37 Chromosome 1, 155207983: 155207983
25 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh38 Chromosome 1, 155238192: 155238192
26 GBA NM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh37 Chromosome 1, 155205541: 155205595
27 GBA NM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh38 Chromosome 1, 155235750: 155235804

Expression for Gaucher Disease, Perinatal Lethal

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

Pathways for Gaucher Disease, Perinatal Lethal

GO Terms for Gaucher Disease, Perinatal Lethal

Sources for Gaucher Disease, Perinatal Lethal

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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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