MCID: GCH006
MIFTS: 40

Gaucher Disease Perinatal Lethal malady

Eye diseases, Skin diseases, Metabolic diseases categories

Summaries for Gaucher Disease Perinatal Lethal

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46OMIM, 32MalaCards
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MalaCards: Gaucher Disease Perinatal Lethal, also known as perinatal lethal gaucher disease, is related to gaucher disease type 3 and neurologic diseases, and has symptoms including osteoarthritis, bone tumefaction/swelling and restricted joint mobility/joint stiffness/ankylosis. An important gene associated with Gaucher Disease Perinatal Lethal is GBA (glucosidase, beta, acid). Affiliated tissues include bone, skin and eye.

Description from OMIM:46 608013, 231000, 230900, 610539, 230800 231005 more

Aliases & Classifications for Gaucher Disease Perinatal Lethal

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Sources:
48Orphanet, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42
perinatal lethal gaucher disease 42 22 48
gaucher disease, perinatal-lethal form 42 20
gaucher disease, perinatal lethal 46 60
gaucher disease 48 60
acid beta-glucosidase deficiency 48
gaucher disease collodion type 42
glucocerebrosidase deficiency 48
fetal gaucher disease 48


External Ids:

MESH via Orphanet35 D005776
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 190794006
UMLS via Orphanet61 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

Clinical Features for Gaucher Disease Perinatal Lethal

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

608013,231000,230900,610539,230800,231005

Clinical synopsis from OMIM:

608013

Symptoms:

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

Drugs & Therapeutics for Gaucher Disease Perinatal Lethal

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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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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32MalaCards
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MalaCards organs/tissues related to Gaucher Disease Perinatal Lethal:

32
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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Genetic Variations for Gaucher Disease Perinatal Lethal

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Expression for genes affiliated with Gaucher Disease Perinatal Lethal

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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

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet