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 52 12 68
Perinatal Lethal Gaucher Disease 48 54 27
Gaucher Disease, Perinatal-Lethal Form 48 24
Gaucher Disease Perinatal Lethal 48 70
 
Gaucher Disease Collodion Type 48
Fetal Gaucher Disease 54
Gdpl 70

Characteristics:

Orphanet epidemiological data:

54
perinatal lethal gaucher disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

64
gaucher disease, perinatal lethal:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 608013
Orphanet54 ORPHA85212
ICD10 via Orphanet31 E75.2
MedGen37 C1842704

Summaries for Gaucher Disease, Perinatal Lethal

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UniProtKB/Swiss-Prot:70 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 disease, type i and hydrops fetalis, 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:52 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 disease, type i11.1
2hydrops fetalis9.9

Symptoms & Phenotypes for Gaucher Disease, Perinatal Lethal

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Symptoms by clinical synopsis from OMIM:

608013

Clinical features from OMIM:

608013

Human phenotypes related to Gaucher Disease, Perinatal Lethal:

 64 54 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrops fetalis64 54 hallmark (90%) Very frequent (99-80%) HP:0001789
2 thrombocytopenia64 54 hallmark (90%) Very frequent (99-80%) HP:0001873
3 intracranial hemorrhage64 54 hallmark (90%) Very frequent (99-80%) HP:0002170
4 abnormality of the palate64 typical (50%) HP:0000174
5 low-set, posteriorly rotated ears64 54 typical (50%) Frequent (79-30%) HP:0000368
6 abnormality of the eyelid64 typical (50%) HP:0000492
7 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
8 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
9 hypertonia64 54 typical (50%) Frequent (79-30%) HP:0001276
10 splenomegaly64 54 typical (50%) Frequent (79-30%) HP:0001744
11 hepatomegaly64 54 typical (50%) Frequent (79-30%) HP:0002240
12 depressed nasal bridge64 54 typical (50%) Frequent (79-30%) HP:0005280
13 narrow mouth64 HP:0000160
14 open mouth64 HP:0000194
15 everted lower lip vermilion64 HP:0000232
16 microcephaly64 HP:0000252
17 retrognathia64 HP:0000278
18 hypertelorism64 HP:0000316
19 triangular face64 HP:0000325
20 micrognathia64 HP:0000347
21 low-set ears64 HP:0000369
22 anteverted nares64 54 Frequent (79-30%) HP:0000463
23 strabismus64 HP:0000486
24 apathy64 HP:0000741
25 hyperkeratosis64 HP:0000962
26 petechiae64 HP:0000967
27 purpura64 HP:0000979
28 hepatic failure64 HP:0001399
29 intrauterine growth retardation64 HP:0001511
30 ascites64 HP:0001541
31 decreased fetal movement64 54 Very frequent (99-80%) HP:0001558
32 polyhydramnios64 HP:0001561
33 premature birth64 HP:0001622
34 cardiomegaly64 HP:0001640
35 nonimmune hydrops fetalis64 HP:0001790
36 anemia64 HP:0001903
37 dysphagia64 HP:0002015
38 respiratory distress64 HP:0002098
39 apnea64 HP:0002104
40 ventriculomegaly64 HP:0002119
41 opisthotonus64 HP:0002179
42 akinesia64 HP:0002304
43 progressive neurologic deterioration64 HP:0002344
44 hypokinesia64 HP:0002375
45 arthrogryposis multiplex congenita64 54 Very frequent (99-80%) HP:0002804
46 short nose64 HP:0003196
47 decreased beta-glucocerebrosidase protein and activity64 HP:0003656
48 thoracic hypoplasia64 HP:0005257
49 congenital nonbullous ichthyosiform erythroderma64 54 Very frequent (99-80%) HP:0007479
50 desquamation of skin soon after birth64 HP:0007549
51 microtia64 HP:0008551
52 everted upper lip vermilion64 HP:0010803
53 high palate54 Frequent (79-30%)
54 ectropion54 Frequent (79-30%)
55 flexion contracture54 Frequent (79-30%)
56 death in infancy54 Very frequent (99-80%)
57 abnormality of the spleen54 Frequent (79-30%)
58 pancytopenia54 Very frequent (99-80%)
59 fetal akinesia sequence54 Frequent (79-30%)
60 neonatal death54 Very frequent (99-80%)
61 stillbirth54 Very frequent (99-80%)
62 ichthyosis54 Very frequent (99-80%)

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 Lethal27
2 Gaucher Disease, Perinatal-Lethal Form24

Anatomical Context for Gaucher Disease, Perinatal Lethal

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

36
Skin, Spleen

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 12)
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)SNV, CompoundHeterozygotePathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
3GBANM_000157.3(GBA): c.476G> A (p.Arg159Gln)SNVPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
4GBANM_001005741.2(GBA): c.1309G> T (p.Val437Phe)SNVPathogenicrs121908310GRCh37Chr 1, 155205551: 155205551
5GBANM_001005741.2(GBA): c.532delC (p.Pro178Leufs)deletionPathogenicrs397518434GRCh37Chr 1, 155208364: 155208364
6GBANM_001005741.2(GBA): c.1049A> G (p.His350Arg)SNVPathogenicrs78198234GRCh37Chr 1, 155206211: 155206211
7GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)SNVPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
8GBANM_000157.3(GBA): c.887G> A (p.Arg296Gln)SNVPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
9GBANM_000157.3(GBA): c.509G> T (p.Arg170Leu)SNVPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
10GBANM_001005741.2(GBA): c.870C> A (p.Phe290Leu)SNVPathogenicrs121908313GRCh37Chr 1, 155207261: 155207261
11GBAGBA, IVS10DS, G-A, -1SNVPathogenicChr na, -1: -1
12GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)SNV, HaplotypePathogenicrs1064651GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet