MCID: GCH006
MIFTS: 27

Gaucher Disease Perinatal Lethal malady

Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases categories
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Summaries for Gaucher Disease Perinatal Lethal

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MalaCards based summary: Gaucher Disease Perinatal Lethal, also known as perinatal lethal gaucher disease, is related to gaucher's disease and gaucher disease type 1, and has symptoms including ichthyosis/ichthyosiform dermatitis, thrombocytopenia/thrombopenia and intracranial/cerebral/meningeal hemorrhage. An important gene associated with Gaucher Disease Perinatal Lethal is GBA (glucosidase, beta, acid). Affiliated tissues include spleen, liver and skin.

Description from OMIM:46 608013

Aliases & Classifications for Gaucher Disease Perinatal Lethal

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Gaucher Disease Perinatal Lethal, Aliases & Descriptions:

Name: Gaucher Disease Perinatal Lethal 42
Perinatal Lethal Gaucher Disease 42 22 48
Gaucher Disease, Perinatal-Lethal Form 42 20
 
Gaucher Disease, Perinatal Lethal 46 62
Gaucher Disease Collodion Type 42
Fetal Gaucher Disease 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
perinatal lethal gaucher disease:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

OMIM46 608013
ICD10 via Orphanet26 E75.2

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gaucher's disease10.3
2gaucher disease type 110.3

Symptoms for Gaucher Disease Perinatal Lethal

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Symptoms by clinical synopsis from OMIM:

608013

Clinical features from OMIM:

608013

Symptoms:

48 (show all 16)
  • ichthyosis/ichthyosiform dermatitis
  • thrombocytopenia/thrombopenia
  • intracranial/cerebral/meningeal hemorrhage
  • stillbirth/neonatal death
  • death in infancy
  • hydrops fetalis
  • ectropion/entropion/eyelid eversion
  • depressed nasal bridge
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • hepatomegaly/liver enlargement (excluding storage disease)
  • structural and functional anomalies of the spleen
  • splenomegaly
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus

HPO human phenotypes related to Gaucher Disease Perinatal Lethal:

(show all 59)
id Description Frequency HPO Source Accession
1 hydrops fetalis hallmark (90%) HP:0001789
2 thrombocytopenia hallmark (90%) HP:0001873
3 intracranial hemorrhage hallmark (90%) HP:0002170
4 ichthyosis hallmark (90%) HP:0008064
5 abnormality of the palate typical (50%) HP:0000174
6 low-set, posteriorly rotated ears typical (50%) HP:0000368
7 abnormality of the eyelid typical (50%) HP:0000492
8 seizures typical (50%) HP:0001250
9 muscular hypotonia typical (50%) HP:0001252
10 hypertonia typical (50%) HP:0001276
11 splenomegaly typical (50%) HP:0001744
12 hepatomegaly typical (50%) HP:0002240
13 depressed nasal bridge typical (50%) HP:0005280
14 autosomal recessive inheritance HP:0000007
15 narrow mouth HP:0000160
16 open mouth HP:0000194
17 everted lower lip vermilion HP:0000232
18 microcephaly HP:0000252
19 retrognathia HP:0000278
20 hypertelorism HP:0000316
21 triangular face HP:0000325
22 micrognathia HP:0000347
23 low-set ears HP:0000369
24 anteverted nares HP:0000463
25 strabismus HP:0000486
26 apathy HP:0000741
27 hyperkeratosis HP:0000962
28 petechiae HP:0000967
29 purpura HP:0000979
30 seizures HP:0001250
31 hepatic failure HP:0001399
32 intrauterine growth retardation HP:0001511
33 ascites HP:0001541
34 decreased fetal movement HP:0001558
35 polyhydramnios HP:0001561
36 premature birth HP:0001622
37 cardiomegaly HP:0001640
38 splenomegaly HP:0001744
39 nonimmune hydrops fetalis HP:0001790
40 thrombocytopenia HP:0001873
41 anemia HP:0001903
42 dysphagia HP:0002015
43 respiratory distress HP:0002098
44 apnea HP:0002104
45 ventriculomegaly HP:0002119
46 opisthotonus HP:0002179
47 hepatomegaly HP:0002240
48 akinesia HP:0002304
49 progressive neurologic deterioration HP:0002344
50 hypokinesia HP:0002375
51 arthrogryposis multiplex congenita HP:0002804
52 short nose HP:0003196
53 decreased beta-glucocerebrosidase protein and activity HP:0003656
54 thoracic hypoplasia HP:0005257
55 depressed nasal bridge HP:0005280
56 congenital nonbullous ichthyosiform erythroderma HP:0007479
57 desquamation of skin soon after birth HP:0007549
58 microtia HP:0008551
59 everted upper lip vermilion HP:0010803

Drugs & Therapeutics for Gaucher Disease Perinatal Lethal

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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease Perinatal Lethal

Search 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-Lethal Form20
2 Gaucher Disease, Perinatal Lethal22

Anatomical Context for Gaucher Disease Perinatal Lethal

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MalaCards organs/tissues related to Gaucher Disease Perinatal Lethal:

32
Spleen, Liver, Skin

Animal Models for Gaucher Disease Perinatal Lethal or affiliated genes

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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:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
2GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
3GBANM_001005741.2(GBA): c.1309G> T (p.Val437Phe)single nucleotide variantPathogenicrs121908310GRCh37Chr 1, 155205551: 155205551
4GBANM_001005741.2(GBA): c.1263_1317del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205543: 155205597
5GBANM_001005741.2(GBA): c.532delC (p.Pro178Leufs)deletionPathogenicrs397518434GRCh37Chr 1, 155208364: 155208364
6GBANM_001005741.2(GBA): c.1049A> G (p.His350Arg)single nucleotide variantPathogenicrs78198234GRCh37Chr 1, 155206211: 155206211
7GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)single nucleotide variantPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
8GBANM_001005741.2(GBA): c.887G> A (p.Arg296Gln)single nucleotide variantPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
9GBANM_001005741.2(GBA): c.509G> T (p.Arg170Leu)single nucleotide variantPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
10GBANM_001005741.2(GBA): c.870C> A (p.Phe290Leu)single nucleotide variantPathogenicrs121908313GRCh37Chr 1, 155207261: 155207261
11GBAGBA, IVS10DS, G-A, -1single nucleotide variantPathogenic
12GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518

Expression for genes affiliated with Gaucher Disease Perinatal Lethal

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Expression patterns in normal tissues for genes affiliated with Gaucher Disease Perinatal Lethal

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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Compounds 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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Products for genes affiliated with Gaucher Disease Perinatal Lethal

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  • Antibodies
  • Proteins
  • Lysates

Sources for Gaucher Disease Perinatal Lethal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet