MCID: GCH006
MIFTS: 40

Gaucher Disease Perinatal Lethal malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases categories

Summaries for Gaucher Disease Perinatal Lethal

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Sources:
48OMIM, 34MalaCards
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MalaCards: Gaucher Disease Perinatal Lethal, also known as perinatal lethal gaucher disease, is related to gaucher disease type 1 and gaucher disease type 2, and has symptoms including pulmonary hypertension, cirrhosis and myocardium anomalies/myocarditis. An important gene associated with Gaucher Disease Perinatal Lethal is GBA (glucosidase, beta, acid). Affiliated tissues include bone, skin and eye.

Description from OMIM:48 608013, 231000, 230900, 610539, 230800 231005 more

Aliases & Classifications for Gaucher Disease Perinatal Lethal

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Sources:
50Orphanet, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
gaucher disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable
perinatal lethal gaucher disease:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

gaucher disease perinatal lethal 44
perinatal lethal gaucher disease 44 23 50
gaucher disease, perinatal-lethal form 44 21
gaucher disease, perinatal lethal 48 63
gaucher disease 50 63
acid beta-glucosidase deficiency 50
gaucher disease collodion type 44
glucocerebrosidase deficiency 50
fetal gaucher disease 50


External Ids:

MESH via Orphanet37 D005776
ICD10 via Orphanet27 E75.2
SNOMED-CT via Orphanet60 190794006
UMLS via Orphanet64 C0017205

Related Diseases for Gaucher Disease Perinatal Lethal

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Gaucher Disease Perinatal Lethal:



Diseases related to gaucher disease perinatal lethal

Symptoms for Gaucher Disease Perinatal Lethal

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

608013

Clinical features from OMIM:

608013,231000,230900,610539,230800,231005

Symptoms:

50 (show all 78)
  • pulmonary hypertension
  • cirrhosis
  • myocardium anomalies/myocarditis
  • hematuria/microhematuria
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • gingivorrhagia/gingival bleeding
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • acute abdominal pain/colic
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • anaemia
  • osteosclerosis/osteopetrosis/bone condensation
  • cardiac valvulopathy
  • strabismus/squint
  • death in infancy
  • mutiple fractures/bone fragility
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • hydrops fetalis
  • thrombocytopenia/thrombopenia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • oculomotor apraxia/dyspraxia
  • bone marrow failure/pancytopenia
  • hypergammaglobulinemia
  • mitral valve atresia/stenosis/narrowing
  • ectropion/entropion/eyelid eversion
  • structural and functional anomalies of the spleen
  • bone pain
  • bone tumefaction/swelling
  • extrapyramidal syndrome
  • intracranial/cerebral/meningeal hemorrhage
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • dilated cerebral ventricles without hydrocephaly
  • stillbirth/neonatal death
  • arthrogryposis
  • movement disorder
  • low set ears/posteriorly rotated ears
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • high vaulted/narrow palate
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hydrocephaly
  • hypotonia
  • psychic/psychomotor regression/dementia/intellectual decline
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • tremor
  • ataxia/incoordination/trouble of the equilibrium
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • osteoarthritis
  • joint/articular deformation
  • autosomal recessive inheritance
  • myoclonus/fasciculations
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • abnormal eye movements/oculomotor disorder
  • corneal clouding/opacity/vascularisation
  • depressed nasal bridge
  • proteinuria
  • late puberty/hypogonadism/hypogenitalism
  • asthenia/fatigue/weakness
  • retinopathy
  • cranial nerves palsy
  • fever/chilling
  • articular/joint pain/arthralgia
  • macular pigmentary anomaly/cherry-red spot
  • lung fibrosis
  • short stature/dwarfism/nanism
  • ichthyosis/ichthyosiform dermatitis
  • hearing loss/hypoacusia/deafness
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • delayed bone age
  • osteonecrosis/bone infarction
  • anomalies of bones/skeletal anomalies
  • restricted joint mobility/joint stiffness/ankylosis
  • hepatitis/icterus/cholestasis

Drugs & Therapeutics for Gaucher Disease Perinatal Lethal

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Gaucher Disease Perinatal Lethal

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease Perinatal Lethal

Search NIH Clinical Center for Gaucher Disease Perinatal Lethal

Search CenterWatch for Gaucher Disease Perinatal Lethal

Genetic Tests for Gaucher Disease Perinatal Lethal

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Gaucher Disease Perinatal Lethal:

id Genetic test Affiliating Genes
1 Gaucher Disease, Perinatal-Lethal Form21
2 Gaucher Disease, Perinatal Lethal23

Anatomical Context for Gaucher Disease Perinatal Lethal

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34MalaCards
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MalaCards organs/tissues related to Gaucher Disease Perinatal Lethal:

34
Bone, Skin, Eye, Lung, Liver, Spleen, Bone marrow

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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Gaucher Disease Perinatal Lethal:

1 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
2GBANM_001005741.2(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
3GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)single nucleotide variantPathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
4GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
5GBANM_001005741.2(GBA): c.1343A> T (p.Asp448Val)single nucleotide variantPathogenicrs77369218GRCh37Chr 1, 155205517: 155205517
6GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
7GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
8GBANM_001005741.2(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
9GBANM_001005741.2(GBA): c.1309G> T (p.Val437Phe)single nucleotide variantPathogenicrs121908310GRCh37Chr 1, 155205551: 155205551
10GBANM_001005741.2(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
11GBANM_001005741.2(GBA): c.1604G> A (p.Arg535His)single nucleotide variantPathogenicrs80356773GRCh37Chr 1, 155204793: 155204793
12GBANM_001005741.2(GBA): c.1263_1317del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205543: 155205597
13GBANM_001005741.2(GBA): c.680A> G (p.Asn227Ser)single nucleotide variantPathogenic, Uncertain significancers364897GRCh37Chr 1, 155208006: 155208006
14GBANM_001005741.2(GBA): c.532delC (p.Pro178Leufs)deletionPathogenicrs397518434GRCh37Chr 1, 155208364: 155208364
15GBANM_001005741.2(GBA): c.1049A> G (p.His350Arg)single nucleotide variantPathogenicrs78198234GRCh37Chr 1, 155206211: 155206211
16GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)single nucleotide variantPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
17GBANM_001005741.2(GBA): c.1246G> A (p.Gly416Ser)single nucleotide variantPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
18GBANM_001005741.2(GBA): c.887G> A (p.Arg296Gln)single nucleotide variantPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
19GBANM_001005741.2(GBA): c.509G> T (p.Arg170Leu)single nucleotide variantPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
20GBANM_001005741.2(GBA): c.870C> A (p.Phe290Leu)single nucleotide variantPathogenicrs121908313GRCh37Chr 1, 155207261: 155207261
21GBANM_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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Gaucher Disease Perinatal Lethal

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet