Rare Oncology News
Advertisement
Disease Profile
Gaucher disease perinatal lethal
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 >
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Orpha Number: 85212
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 | |
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 |
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 |
Low or weak muscle tone
|
0001252 |
0001250 | ||
Splenomegaly |
Increased spleen size
|
0001744 |
Percent of people who have these symptoms is not available through HPO | ||
Akinesia | 0002304 | |
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 |
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 | |
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 |
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 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
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 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486
TreatmentThe 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
Learn moreThese 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
Rare Oncology News |