MCID: GCH006
MIFTS: 40

Gaucher Disease Perinatal Lethal malady

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

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Sources:
47OMIM, 33MalaCards
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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:47 608013, 231000, 230900, 610539, 230800 231005 more

Aliases & Classifications for Gaucher Disease Perinatal Lethal

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Sources:
49Orphanet, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43
perinatal lethal gaucher disease 43 22 49
gaucher disease, perinatal-lethal form 43 20
gaucher disease, perinatal lethal 47 62
gaucher disease 49 62
acid beta-glucosidase deficiency 49
gaucher disease collodion type 43
glucocerebrosidase deficiency 49
fetal gaucher disease 49


External Ids:

MESH via Orphanet36 D005776
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet59 190794006
UMLS via Orphanet63 C0017205

Related Diseases for Gaucher Disease Perinatal Lethal

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17GeneCards, 18GeneDecks
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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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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

608013

Clinical features from OMIM:

608013,231000,230900,610539,230800,231005

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Gaucher Disease Perinatal Lethal:

33
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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2BioGPS, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet