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Disease Profile

Gaucher disease perinatal lethal

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

E75.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Gaucher disease collodion type; Gaucher disease, perinatal-lethal form; Perinatal lethal Gaucher disease

Categories

Congenital and Genetic Diseases; Metabolic disorders; Skin Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 85212

Definition
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

Epidemiology
It is very rare with an incidence of less than 5% of GD cases.

Clinical description
This form is particularly severe. The disease manifests in the fetus with a decrease or absence of fetal movements, fetal and placental anasarca, hepatosplenomegaly, ichthyosis, arthrogryposis, facial dysmorphism and fetal thrombocytopenia. Death usually occurs in utero or shortly after birth (<3 months).

Etiology
Fetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. The enzyme deficiency resulting from the mutation leads to accumulation of glucosylceramide (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and bone marrow (Gaucher cells).

Diagnostic methods
Diagnosis is made by demonstrating a deficiency in the enzymatic activity of glucocerebrosidase.

Antenatal diagnosis
Biochemical prenatal diagnosis is recommended for couples who have already had a child diagnosed with Fetal Gaucher disease or GD type 2. It can be carried out by measuring the enzyme activity in chorionic villus samples at 10-12 weeks of pregnancy or in amniocytes in culture towards 16 weeks of pregnancy.

Genetic counseling
The transmission is autosomal recessive.

Management and treatment
There is no treatment for this severe form of the disease.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthrogryposis multiplex congenita
0002804
Congenital nonbullous ichthyosiform erythroderma
0007479
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Hydrops fetalis
0001789
Intracranial hemorrhage
Bleeding within the skull
0002170
Neonatal death
Neonatal lethal
0003811
Pancytopenia
Low blood cell count
0001876
Stillbirth
Stillborn
0003826
Thrombocytopenia
Low platelet count
0001873
30%-79% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Ectropion
Eyelid turned out
0000656
Fetal akinesia sequence
0001989
Hepatomegaly
Enlarged liver
0002240
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypertonia
0001276
Low-set, posteriorly rotated ears
0000368
Muscular hypotonia
Low or weak muscle tone
0001252
Seizure
0001250
Splenomegaly
Increased spleen size
0001744
Percent of people who have these symptoms is not available through HPO
Akinesia
0002304
Anemia
Low number of red blood cells or hemoglobin
0001903
Apathy
Lack of feeling, emotion, interest
0000741
Apnea
0002104
Ascites
Accumulation of fluid in the abdomen
0001541
Autosomal recessive inheritance
0000007
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Decreased beta-glucocerebrosidase level
0003656
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile

[ more ]

0004325
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Desquamation of skin soon after birth
0007549
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Everted upper lip vermilion
Outward turned upper lip
0010803
Hepatic failure
Liver failure
0001399
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hyperkeratosis
0000962
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypokinesia
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements

[ more ]

0002375
Ichthyosis
0008064
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Narrow mouth
Small mouth
0000160
Nonimmune hydrops fetalis
0001790
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ more ]

0000194
Opisthotonus
0002179
Petechiae
0000967
Polyhydramnios
High levels of amniotic fluid
0001561
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The NORD Physician Guide for Gaucher disease perinatal lethal was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gaucher disease perinatal lethal. Click on the link to view a sample search on this topic.

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