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Gaucher disease type 3C

MedGen UID:
341563
Concept ID:
C1856476
Disease or Syndrome
Synonyms: Gaucher Disease, Cardiovascular Form; GAUCHER DISEASE, TYPE IIIC
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): GBA (1q22)
OMIM®: 231005

Definition

Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity. [from GTR]

Additional descriptions

From GeneReviews
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.  https://www.ncbi.nlm.nih.gov/books/NBK1269
From GHR
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).  https://ghr.nlm.nih.gov/condition/gaucher-disease

Clinical features

Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Supranuclear ophthalmoplegia
MedGen UID:
235616
Concept ID:
C1408507
Disease or Syndrome
A vertical gaze palsy with inability to direct the gaze of the eyes downwards.
Slowed horizontal saccades
MedGen UID:
341564
Concept ID:
C1856477
Finding
An abnormally slow velocity of horizontal saccadic eye movements.
Hypometric horizontal saccades
MedGen UID:
341565
Concept ID:
C1856478
Finding
Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Reduced transparency of the stroma of cornea.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Abnormal enlargement of the heart.
Calcification of the aorta
MedGen UID:
202111
Concept ID:
C1096249
Pathologic Function
Calcification, that is, pathological deposition of calcium salts in the aorta.
Calcific aortic valve stenosis
MedGen UID:
383923
Concept ID:
C1856481
Finding
A type of aortic valve stenosis associated with calcification of the aortic heart valve.
Calcific mitral stenosis
MedGen UID:
344743
Concept ID:
C1856482
Finding
Abnormal narrowing of the orifice of the mitral valve because of calcification of the mitral valve leaflets.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
A finding of low numbers of red and white blood cells and platelets in the peripheral blood.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Calcification of the aorta
MedGen UID:
202111
Concept ID:
C1096249
Pathologic Function
Calcification, that is, pathological deposition of calcium salts in the aorta.
Calcific mitral stenosis
MedGen UID:
344743
Concept ID:
C1856482
Finding
Abnormal narrowing of the orifice of the mitral valve because of calcification of the mitral valve leaflets.

Recent clinical studies

Diagnosis

Zhang H, Wang Y, Lin N, Yang R, Qiu W, Han L, Ye J, Gu X
Orphanet J Rare Dis 2014 Jun 10;9:82. doi: 10.1186/1750-1172-9-82. PMID: 24915861Free PMC Article
Perić Z, Kardum-Skelin I, Puskarić BJ, Letilović T, Vrhovac R, Jaksić B
Coll Antropol 2010 Mar;34(1):275-8. PMID: 20432762
Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S
Blood Cells Mol Dis 2007 Nov-Dec;39(3):348-52. Epub 2007 Aug 8 doi: 10.1016/j.bcmd.2007.06.015. PMID: 17689991

Therapy

Zhang H, Wang Y, Lin N, Yang R, Qiu W, Han L, Ye J, Gu X
Orphanet J Rare Dis 2014 Jun 10;9:82. doi: 10.1186/1750-1172-9-82. PMID: 24915861Free PMC Article

Prognosis

Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S
Blood Cells Mol Dis 2007 Nov-Dec;39(3):348-52. Epub 2007 Aug 8 doi: 10.1016/j.bcmd.2007.06.015. PMID: 17689991

Clinical prediction guides

Zhang H, Wang Y, Lin N, Yang R, Qiu W, Han L, Ye J, Gu X
Orphanet J Rare Dis 2014 Jun 10;9:82. doi: 10.1186/1750-1172-9-82. PMID: 24915861Free PMC Article
Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S
Blood Cells Mol Dis 2007 Nov-Dec;39(3):348-52. Epub 2007 Aug 8 doi: 10.1016/j.bcmd.2007.06.015. PMID: 17689991

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