MCID: GCH018
MIFTS: 31

Gaucher Disease, Perinatal Lethal

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

Aliases & Classifications for Gaucher Disease, Perinatal Lethal

MalaCards integrated aliases for Gaucher Disease, Perinatal Lethal:

Name: Gaucher Disease, Perinatal Lethal 53 28 13 69
Gaucher Disease Perinatal Lethal 49 71
Perinatal Lethal Gaucher Disease 49 55
Gaucher Disease, Collodion Type 53 12
Fetal Gaucher Disease 12 55
Gaucher Disease, Perinatal-Lethal Form 49
Gaucher's Disease Perinatal Lethal 12
Gaucher Disease Collodion Type 49
Gdpl 71

Characteristics:

Orphanet epidemiological data:

55
fetal gaucher disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
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:

31
gaucher disease, perinatal lethal:
Mortality/Aging death in infancy neonatal death stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Perinatal Lethal

UniProtKB/Swiss-Prot : 71 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, is related to gaucher's disease, and has symptoms including seizures, high palate and muscular hypotonia. An important gene associated with Gaucher Disease, Perinatal Lethal is GBA (Glucosylceramidase Beta). Affiliated tissues include skin, liver and spleen.

OMIM : 53 Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (230900) (Mignot et al., 2003). (608013)

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Gaucher disease.

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 11.2

Symptoms & Phenotypes for Gaucher Disease, Perinatal Lethal

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
hypokinesia
apathy
akinesia
progressive neurologic deterioration
more
HeadAndNeckEyes:
hypertelorism
strabismus

AbdomenGastrointestinal:
dysphagia

AbdomenLiver:
hepatomegaly
liver failure

HeadAndNeckNose:
anteverted nares
small nose
flat nasal bridge

CardiovascularHeart:
cardiomegaly

Hematology:
anemia
thrombocytopenia

SkinNailsHairSkinHistology:
hyperkeratosis

HeadAndNeckMouth:
open mouth
microstomia
everted lips

PrenatalManifestationsDelivery:
premature birth

Skeletal:
arthrogryposis

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

RespiratoryLung:
lung hypoplasia with fetal hydrops

Respiratory:
respiratory distress
apnea

HeadAndNeckEars:
low-set ears
small ears
malformed ears

AbdomenSpleen:
splenomegaly

HeadAndNeckHead:
microcephaly

SkinNailsHairSkin:
ichthyosis
purpura
petechiae
desquamation of skin soon after birth
collodion skin
more
AbdomenExternalFeatures:
ascites

HeadAndNeckFace:
micrognathia
retrognathia
triangular face
dysmorphic facies (30%)

PrenatalManifestations:
intrauterine growth retardation

PrenatalManifestationsAmnioticFluid:
polyhydramnios
hydrops fetalis, nonimmune

ChestExternalFeatures:
small thorax

GrowthOther:
intrauterine growth retardation (iugr)

PrenatalManifestationsMovement:
decreased fetal movements


Clinical features from OMIM:

608013

Human phenotypes related to Gaucher Disease, Perinatal Lethal:

55 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
3 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
4 splenomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0001744
5 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
6 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
7 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
8 hypertonia 55 31 frequent (33%) Frequent (79-30%) HP:0001276
9 pancytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001876
10 hydrops fetalis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001789
11 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
12 arthrogryposis multiplex congenita 55 31 hallmark (90%) Very frequent (99-80%) HP:0002804
13 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
14 intracranial hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0002170
15 decreased fetal movement 55 31 Very frequent (99-80%) HP:0001558
16 ectropion 55 31 frequent (33%) Frequent (79-30%) HP:0000656
17 congenital nonbullous ichthyosiform erythroderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0007479
18 fetal akinesia sequence 55 31 frequent (33%) Frequent (79-30%) HP:0001989
19 respiratory distress 31 HP:0002098
20 opisthotonus 31 HP:0002179
21 hypertelorism 31 HP:0000316
22 low-set ears 31 HP:0000369
23 dysphagia 31 HP:0002015
24 short nose 31 HP:0003196
25 microtia 31 HP:0008551
26 microcephaly 31 HP:0000252
27 ichthyosis 55 Very frequent (99-80%)
28 flexion contracture 55 Frequent (79-30%)
29 cardiomegaly 31 HP:0001640
30 ascites 31 HP:0001541
31 anemia 31 HP:0001903
32 micrognathia 31 HP:0000347
33 hyperkeratosis 31 HP:0000962
34 retrognathia 31 HP:0000278
35 strabismus 31 HP:0000486
36 death in infancy 55 Very frequent (99-80%)
37 everted lower lip vermilion 31 HP:0000232
38 intrauterine growth retardation 31 HP:0001511
39 apnea 31 HP:0002104
40 ventriculomegaly 31 HP:0002119
41 narrow mouth 31 HP:0000160
42 open mouth 31 HP:0000194
43 polyhydramnios 31 HP:0001561
44 abnormality of the spleen 55 Frequent (79-30%)
45 petechiae 31 HP:0000967
46 hepatic failure 31 HP:0001399
47 everted upper lip vermilion 31 HP:0010803
48 triangular face 31 HP:0000325
49 hypokinesia 31 HP:0002375
50 premature birth 31 HP:0001622

UMLS symptoms related to Gaucher Disease, Perinatal Lethal:


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

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 28 GBA

Anatomical Context for Gaucher Disease, Perinatal Lethal

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

38
Skin, Liver, Spleen, Lung, Bone, Lymph Node, Bone Marrow

Publications for Gaucher Disease, Perinatal Lethal

Articles related to Gaucher Disease, Perinatal Lethal:

# Title Authors Year
1
Perinatal-lethal Gaucher disease presenting as hydrops fetalis. ( 26327947 )
2015
2
Perinatal-lethal Gaucher disease. ( 12838552 )
2003

Variations for Gaucher Disease, Perinatal Lethal

ClinVar genetic disease variations for Gaucher Disease, Perinatal Lethal:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh37 Chromosome 1, 155205541: 155205595
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
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_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
5 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
6 GBA NM_001005741.2(GBA): c.1309G> T (p.Val437Phe) single nucleotide variant Pathogenic rs121908310 GRCh37 Chromosome 1, 155205551: 155205551
7 GBA NM_001005741.2(GBA): c.532delC (p.Pro178Leufs) deletion Pathogenic rs397518434 GRCh37 Chromosome 1, 155208364: 155208364
8 GBA NM_001005741.2(GBA): c.1049A> G (p.His350Arg) single nucleotide variant Pathogenic rs78198234 GRCh37 Chromosome 1, 155206211: 155206211
9 GBA NM_001005741.2(GBA): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs121908309 GRCh37 Chromosome 1, 155206068: 155206068
10 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
11 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh37 Chromosome 1, 155208387: 155208387
12 GBA NM_001005741.2(GBA): c.870C> A (p.Phe290Leu) single nucleotide variant Pathogenic rs121908313 GRCh37 Chromosome 1, 155207261: 155207261
13 GBA GBA, IVS10DS, G-A, -1 single nucleotide variant Pathogenic

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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