MCID: GCH006
MIFTS: 35

Gaucher Disease Perinatal Lethal malady

Eye, Skin, Metabolic categories

Summaries for Gaucher Disease Perinatal Lethal

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 3 and gaucher disease type 2, and has symptoms including low set ears/posteriorly rotated ears, osteoarthritis and joint/articular deformation. An important gene associated with Gaucher Disease Perinatal Lethal is GBA (glucosidase, beta, acid).

Description from OMIM:47 608013, 231000, 230900, 610539, 230800 231005 more

Aliases & Classifications for Gaucher Disease Perinatal Lethal

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Skin, Metabolic


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 61
gaucher disease 49 61
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 Orphanet58 190794006
UMLS via Orphanet62 C0017205

Related Diseases for Gaucher Disease Perinatal Lethal

Sources:
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

Clinical Features for Gaucher Disease Perinatal Lethal

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

608013,231000,230900,610539,230800,231005

Clinical synopsis from OMIM:

608013

Symptoms:

49 (show all 78)
  • low set ears/posteriorly rotated ears
  • 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
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • 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
  • corneal clouding/opacity/vascularisation
  • depressed nasal bridge
  • 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
  • ichthyosis/ichthyosiform dermatitis
  • short stature/dwarfism/nanism
  • 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
  • hepatitis/icterus/cholestasis
  • movement disorder
  • anaemia
  • osteosclerosis/osteopetrosis/bone condensation
  • cardiac valvulopathy
  • strabismus/squint
  • death in infancy
  • mutiple fractures/bone fragility
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • acute abdominal pain/colic
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • cirrhosis
  • pulmonary hypertension
  • myocardium anomalies/myocarditis
  • hematuria/microhematuria
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • gingivorrhagia/gingival bleeding
  • hydrops fetalis
  • thrombocytopenia/thrombopenia
  • stillbirth/neonatal death
  • arthrogryposis
  • dilated cerebral ventricles without hydrocephaly
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • intracranial/cerebral/meningeal hemorrhage
  • extrapyramidal syndrome
  • bone tumefaction/swelling
  • bone pain
  • structural and functional anomalies of the spleen
  • ectropion/entropion/eyelid eversion
  • mitral valve atresia/stenosis/narrowing
  • hypergammaglobulinemia
  • bone marrow failure/pancytopenia
  • oculomotor apraxia/dyspraxia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia

Drugs & Therapeutics for Gaucher Disease Perinatal Lethal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Gaucher Disease Perinatal Lethal

Genetic Tests for Gaucher Disease Perinatal Lethal

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

Animal Models for Gaucher Disease Perinatal Lethal or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Gaucher Disease Perinatal Lethal

Sources:
51PubMed
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Articles related to Gaucher Disease Perinatal Lethal:

idTitleAuthorsYear
1
Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease. (19177047)
2009
2
Perinatal lethal Gaucher's disease without prenatal complications. (18070135)
2008
3
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. (15967693)
2005
4
Perinatal-lethal Gaucher disease. (12838552)
2003
5
Perinatal lethal form of Gaucher's disease presenting with hemosiderosis. (11041442)
2000
6
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (10352942)
1999

Genetic Variations for Gaucher Disease Perinatal Lethal

Expression for genes affiliated with Gaucher Disease Perinatal Lethal

Sources:
1BioGPS, 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

Compounds for genes affiliated with Gaucher Disease Perinatal Lethal

GO Terms for genes affiliated with Gaucher Disease Perinatal Lethal

Products for genes affiliated with Gaucher Disease Perinatal Lethal

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  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Perinatal Lethal

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet