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 54 29 13 69
Gaucher Disease, Perinatal-Lethal Form 50 24
Gaucher Disease Perinatal Lethal 50 71
Perinatal Lethal Gaucher Disease 50 56
Fetal Gaucher Disease 12 56
Gaucher's Disease Perinatal Lethal 12
Gaucher Disease, Collodion Type 12
Gaucher Disease Collodion Type 50
Gdpl 71

Characteristics:

Orphanet epidemiological data:

56
fetal gaucher disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

54
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 stillbirth death in infancy neonatal death
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 form, is related to gaucher's disease, and has symptoms including hepatomegaly, splenomegaly and seizures. An important gene associated with Gaucher Disease, Perinatal Lethal is GBA (Glucosylceramidase Beta). Affiliated tissues include skin, liver and spleen.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on gaucher disease.

OMIM : 54
Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (230900) (Mignot et al., 2003). (608013)

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:

id Related Disease Score Top Affiliating Genes
1 gaucher's disease 11.1

Symptoms & Phenotypes for Gaucher Disease, Perinatal Lethal

Symptoms via clinical synopsis from OMIM:

54

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

Abdomen- Gastroin testinal:
dysphagia

Abdomen- Liver:
hepatomegaly
liver failure

Neurologic- Central Nervous System:
seizures
progressive neurologic deterioration
apathy
decreased spontaneous movements at birth
hypokinesia
more
Hematology:
thrombocytopenia
anemia

Cardiovascular- Heart:
cardiomegaly

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios
hydrops fetalis, nonimmune

Skeletal:
arthrogryposis

Head And Neck- Mouth:
microstomia
open mouth
everted lips

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

Prenatal Manifestations- Movement:
decreased fetal movements

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

Head And Neck- Eyes:
strabismus
hypertelorism

Abdomen- Spleen:
splenomegaly

Head And Neck- Head:
microcephaly

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

Prenatal Manifestations:
intrauterine growth retardation

Prenatal Manifestations- Delivery:
premature birth

Respiratory:
respiratory distress
apnea

Skin Nails & Hair- Skin Histology:
hyperkeratosis

Growth- Other:
intrauterine growth retardation (iugr)

Skin Nails & Hair- Skin:
collodion skin
shiny, taut, erythematous skin
ichthyosis
desquamation of skin soon after birth
petechiae
more

Clinical features from OMIM:

608013

Human phenotypes related to Gaucher Disease, Perinatal Lethal:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
2 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
3 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
4 hypertonia 56 32 frequent (33%) Frequent (79-30%) HP:0001276
5 thrombocytopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001873
6 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
7 arthrogryposis multiplex congenita 56 32 hallmark (90%) Very frequent (99-80%) HP:0002804
8 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
9 pancytopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001876
10 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
11 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
12 decreased fetal movement 56 32 Very frequent (99-80%) HP:0001558
13 hydrops fetalis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001789
14 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
15 ectropion 56 32 frequent (33%) Frequent (79-30%) HP:0000656
16 intracranial hemorrhage 56 32 hallmark (90%) Very frequent (99-80%) HP:0002170
17 congenital nonbullous ichthyosiform erythroderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0007479
18 fetal akinesia sequence 56 32 frequent (33%) Frequent (79-30%) HP:0001989
19 dysphagia 32 HP:0002015
20 strabismus 32 HP:0000486
21 ventriculomegaly 32 HP:0002119
22 microcephaly 32 HP:0000252
23 low-set ears 32 HP:0000369
24 anemia 32 HP:0001903
25 micrognathia 32 HP:0000347
26 hypertelorism 32 HP:0000316
27 cardiomegaly 32 HP:0001640
28 intrauterine growth retardation 32 HP:0001511
29 polyhydramnios 32 HP:0001561
30 stillbirth 56 Very frequent (99-80%)
31 premature birth 32 HP:0001622
32 retrognathia 32 HP:0000278
33 short nose 32 HP:0003196
34 respiratory distress 32 HP:0002098
35 apnea 32 HP:0002104
36 hyperkeratosis 32 HP:0000962
37 open mouth 32 HP:0000194
38 progressive neurologic deterioration 32 HP:0002344
39 decreased beta-glucocerebrosidase protein and activity 32 HP:0003656
40 triangular face 32 HP:0000325
41 ichthyosis 56 Very frequent (99-80%)
42 desquamation of skin soon after birth 32 HP:0007549
43 petechiae 32 HP:0000967
44 purpura 32 HP:0000979
45 apathy 32 HP:0000741
46 hypokinesia 32 HP:0002375
47 akinesia 32 HP:0002304
48 hepatic failure 32 HP:0001399
49 ascites 32 HP:0001541
50 death in infancy 56 Very frequent (99-80%)

UMLS symptoms related to Gaucher Disease, Perinatal Lethal:


seizures, opisthotonus, 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:

id Genetic test Affiliating Genes
1 Gaucher Disease, Perinatal Lethal 29
2 Gaucher Disease, Perinatal-Lethal Form 24

Anatomical Context for Gaucher Disease, Perinatal Lethal

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

39
Skin, Liver, Spleen, Lung, Bone, Bone Marrow, Lymph Node

Publications for Gaucher Disease, Perinatal Lethal

Variations for Gaucher Disease, Perinatal Lethal

ClinVar genetic disease variations for Gaucher Disease, Perinatal Lethal:

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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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