GDPL
MCID: GCH018
MIFTS: 26

Gaucher Disease, Perinatal Lethal (GDPL) malady

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

Aliases & Classifications for Gaucher Disease, Perinatal Lethal

Aliases & Descriptions for Gaucher Disease, Perinatal Lethal:

Name: Gaucher Disease, Perinatal Lethal 54 13 69
Perinatal Lethal Gaucher Disease 50 56 29
Gaucher Disease, Perinatal-Lethal Form 50 24
Gaucher Disease Perinatal Lethal 50 66
Fetal Gaucher Disease 12 56
Gaucher's Disease Perinatal Lethal 12
Gaucher Disease, Collodion Type 12
Gaucher Disease Collodion Type 50
Gdpl 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

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


Classifications:



External Ids:

OMIM 54 608013
Disease Ontology 12 DOID:0110960
ICD10 33 E75.2
Orphanet 56 ORPHA85212
ICD10 via Orphanet 34 E75.2
MedGen 40 C1842704

Summaries for Gaucher Disease, Perinatal Lethal

UniProtKB/Swiss-Prot : 66 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 seizures, high palate and muscular hypotonia. An important gene associated with Gaucher Disease, Perinatal Lethal is GBA (Glucosylceramidase Beta). Affiliated tissues include skin and spleen.

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.

OMIM : 54 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

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 by clinical synopsis from OMIM:

608013

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 seizures 56 32 Frequent (79-30%) HP:0001250
2 high palate 56 32 Frequent (79-30%) HP:0000218
3 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
4 splenomegaly 56 32 Frequent (79-30%) HP:0001744
5 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
6 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
7 anteverted nares 56 32 Frequent (79-30%) HP:0000463
8 hypertonia 56 32 Frequent (79-30%) HP:0001276
9 pancytopenia 56 32 Very frequent (99-80%) HP:0001876
10 hydrops fetalis 56 32 Very frequent (99-80%) HP:0001789
11 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
12 arthrogryposis multiplex congenita 56 32 Very frequent (99-80%) HP:0002804
13 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
14 intracranial hemorrhage 56 32 Very frequent (99-80%) HP:0002170
15 decreased fetal movement 56 32 Very frequent (99-80%) HP:0001558
16 ectropion 56 32 Frequent (79-30%) HP:0000656
17 congenital nonbullous ichthyosiform erythroderma 56 32 Very frequent (99-80%) HP:0007479
18 fetal akinesia sequence 56 32 Frequent (79-30%) HP:0001989
19 respiratory distress 32 HP:0002098
20 opisthotonus 32 HP:0002179
21 hypertelorism 32 HP:0000316
22 low-set ears 32 HP:0000369
23 dysphagia 32 HP:0002015
24 short nose 32 HP:0003196
25 microtia 32 HP:0008551
26 microcephaly 32 HP:0000252
27 ichthyosis 56 Very frequent (99-80%)
28 flexion contracture 56 Frequent (79-30%)
29 cardiomegaly 32 HP:0001640
30 ascites 32 HP:0001541
31 anemia 32 HP:0001903
32 micrognathia 32 HP:0000347
33 hyperkeratosis 32 HP:0000962
34 retrognathia 32 HP:0000278
35 strabismus 32 HP:0000486
36 death in infancy 56 Very frequent (99-80%)
37 everted lower lip vermilion 32 HP:0000232
38 apnea 32 HP:0002104
39 ventriculomegaly 32 HP:0002119
40 intrauterine growth retardation 32 HP:0001511
41 narrow mouth 32 HP:0000160
42 open mouth 32 HP:0000194
43 polyhydramnios 32 HP:0001561
44 purpura 32 HP:0000979
45 abnormality of the spleen 56 Frequent (79-30%)
46 petechiae 32 HP:0000967
47 hepatic failure 32 HP:0001399
48 everted upper lip vermilion 32 HP:0010803
49 triangular face 32 HP:0000325
50 hypokinesia 32 HP:0002375

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, Spleen

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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