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  • Wrong UID 429573

Fucosidosis

MedGen UID:
5288
Concept ID:
C0016788
Disease or Syndrome
Synonyms: Alpha-l-fucosidase deficiency; Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
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)
SNOMED CT: Fucosidosis (64716005); Fucosidase deficiency (64716005); alpha-L-fucosidase deficiency (64716005); Alpha-L-fucosidase deficiency (64716005)
 
Gene (location): FUCA1 (1p36.11)
OMIM®: 230000
Orphanet: ORPHA349

Definition

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976). [from GTR]

Additional descriptions

From OMIM
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).  http://www.omim.org/entry/230000
From GHR
Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. Additional signs and symptoms of fucosidosis include impaired growth; abnormal bone development (dysostosis multiplex); seizures; abnormal muscle stiffness (spasticity); clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas); distinctive facial features that are often described as "coarse"; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly).In severe cases, symptoms typically appear in infancy, and affected individuals usually live into late childhood. In milder cases, symptoms begin at age 1 or 2, and affected individuals tend to survive into mid-adulthood.In the past, researchers described two types of this condition based on symptoms and age of onset, but current opinion is that the two types are actually a single disorder with signs and symptoms that range in severity.  https://ghr.nlm.nih.gov/condition/fucosidosis

Clinical features

Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Tortuosity of conjunctival vessels
MedGen UID:
344487
Concept ID:
C1855391
Finding
The presence of an increased number of twists and turns of the conjunctival blood vessels.
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Angiokeratoma
MedGen UID:
1542
Concept ID:
C0002985
Neoplastic Process
A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Abnormal enlargement of the heart.
Tortuosity of conjunctival vessels
MedGen UID:
344487
Concept ID:
C1855391
Finding
The presence of an increased number of twists and turns of the conjunctival blood vessels.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \
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.
Abnormality of the abdominal wall
MedGen UID:
867301
Concept ID:
C4021664
Anatomical Abnormality
The presence of any abnormality affecting the abdominal wall.
Hearing impairment
MedGen UID:
5453
Concept ID:
C0018772
Finding
A condition in which a person partially loses the ability to hear sounds in one or both ears.
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.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.
Cerebral degeneration
MedGen UID:
56343
Concept ID:
C0154671
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Vacuolated lymphocytes
MedGen UID:
332307
Concept ID:
C1836855
Finding
The determination of the amount of vacuolated lymphocytes present in a sample.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
A finding indicating enlargement of the tongue.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Vacuolated lymphocytes
MedGen UID:
332307
Concept ID:
C1836855
Finding
The determination of the amount of vacuolated lymphocytes present in a sample.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Elevated sweat chloride
MedGen UID:
347278
Concept ID:
C1856646
Finding
An increased concentration of chloride in the sweat.
Oligosacchariduria
MedGen UID:
869388
Concept ID:
C4023815
Finding
Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).
Hurler syndrome
MedGen UID:
39698
Concept ID:
C0086795
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory-tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth decreases. Intellectual disability is progressive and profound. Hearing loss is common. Death, typically caused by cardiorespiratory failure, usually occurs within the first ten years of life. Attenuated MPS I. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decades to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities can be present. Clinical onset is usually between ages three and ten years. Hearing loss and cardiac valvular disease are common.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Barrel-shaped chest
MedGen UID:
120497
Concept ID:
C0264172
Finding
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Shield chest
MedGen UID:
333279
Concept ID:
C1839248
Finding
A broad chest.
Absent/hypoplastic paranasal sinuses
MedGen UID:
347277
Concept ID:
C1856639
Finding
Aplasia or hypoplasia of the paranasal sinuses.
Cervical platyspondyly
MedGen UID:
344778
Concept ID:
C1856641
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.
Absent/hypoplastic coccyx
MedGen UID:
341593
Concept ID:
C1856644
Finding
Anterior beaking of lumbar vertebrae
MedGen UID:
867183
Concept ID:
C4021541
Anatomical Abnormality
Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.
Abnormality of skull size
MedGen UID:
871378
Concept ID:
C4025874
Anatomical Abnormality
Any abnormality of the size of the skull.
Anterior beaking of thoracic vertebrae
MedGen UID:
505662
Concept ID:
CN004105
Finding
Anterior tongue-like protrusions of thoracic vertebral bodies.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
A finding indicating enlargement of the tongue.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major.
Wide nose
MedGen UID:
140869
Concept ID:
C0426421
Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Tortuosity of conjunctival vessels
MedGen UID:
344487
Concept ID:
C1855391
Finding
The presence of an increased number of twists and turns of the conjunctival blood vessels.
Absent/hypoplastic paranasal sinuses
MedGen UID:
347277
Concept ID:
C1856639
Finding
Aplasia or hypoplasia of the paranasal sinuses.
Prominent forehead
MedGen UID:
401234
Concept ID:
C1867446
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Thick lower lip vermilion
MedGen UID:
473520
Concept ID:
C2053437
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Abnormality of skull size
MedGen UID:
871378
Concept ID:
C4025874
Anatomical Abnormality
Any abnormality of the size of the skull.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Hernia
MedGen UID:
6816
Concept ID:
C0019270
Finding
Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired.
Angiokeratoma
MedGen UID:
1542
Concept ID:
C0002985
Neoplastic Process
A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
Anhidrosis, familial generalized, with abnormal or absent sweat glands
MedGen UID:
1550
Concept ID:
C0003028
Disease or Syndrome
Inability to sweat.
Xerosis
MedGen UID:
75479
Concept ID:
C0259817
Disease or Syndrome
Skin characterized by the lack of natural or normal moisture.
Thick eyebrow
MedGen UID:
377914
Concept ID:
C1853487
Finding
Increased density/number and/or increased diameter of eyebrow hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFucosidosis
Follow this link to review classifications for Fucosidosis in Orphanet.

Recent clinical studies

Etiology

Fletcher JL, Taylor RM
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
Menéndez-Sainz C, González-Quevedo A, González-García S, Peña-Sánchez M, Giugliani R
Genet Mol Res 2012 Aug 13;11(3):2352-9. doi: 10.4238/2012.August.13.9. PMID: 22911605
Prietsch V, Arnold S, Kraegeloh-Mann I, Kuehr J, Santer R
Neuropediatrics 2008 Feb;39(1):51-4. doi: 10.1055/s-2008-1077048. PMID: 18504684
Miano M, Lanino E, Gatti R, Morreale G, Fondelli P, Celle ME, Stroppiano M, Crescenzi F, Dini G
Bone Marrow Transplant 2001 Apr;27(7):747-51. doi: 10.1038/sj.bmt.1702994. PMID: 11360116
Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A
AJNR Am J Neuroradiol 2001 Apr;22(4):777-80. PMID: 11290499

Diagnosis

Ediz SS, Aralasmak A, Yilmaz TF, Toprak H, Yesil G, Alkan A
Brain Dev 2016 Apr;38(4):435-8. Epub 2015 Oct 26 doi: 10.1016/j.braindev.2015.09.013. PMID: 26515723
Malatt C, Koning JL, Naheedy J
J Radiol Case Rep 2015 May;9(5):30-8. Epub 2015 May 31 doi: 10.3941/jrcr.v9i5.2149. PMID: 26622931Free PMC Article
Kılıç E, Kılıç M, Ütine GE, Sivri S, Coskun T, Alanay Y
Turk J Pediatr 2014 Jul-Aug;56(4):430-3. PMID: 25818965
Gautschi M, Merlini L, Calza AM, Hayflick S, Nuoffer JM, Fluss J
Eur J Paediatr Neurol 2014 Jul;18(4):516-9. Epub 2014 Feb 25 doi: 10.1016/j.ejpn.2014.02.005. PMID: 24636010
Jain P, Sharma S, Kumar A, Aneja S
J Child Neurol 2014 Jul;29(7):988-9. Epub 2013 May 10 doi: 10.1177/0883073813488667. PMID: 23666038

Therapy

Fletcher JL, Taylor RM
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
Bonesso L, Piraud M, Caruba C, Van Obberghen E, Mengual R, Hinault C
Orphanet J Rare Dis 2014 Feb 6;9:19. doi: 10.1186/1750-1172-9-19. PMID: 24502792Free PMC Article
Zampetti A, Fania L, Antuzzi D, Giurdanella F, Gnarra M, Bertola F, Lualdi S, Filocamo M, Morrone A, Feliciani C
Clin Genet 2013 Sep;84(3):281-5. Epub 2012 Dec 28 doi: 10.1111/cge.12071. PMID: 23210910
Bielicki J, Muller V, Fuller M, Hopwood JJ, Anson DS
Mol Genet Metab 2000 Jan;69(1):24-32. doi: 10.1006/mgme.1999.2947. PMID: 10655154
Sangiorgi S, Mochi M, Beretta M, Prosperi L, Costantino G, Romeo G
Hum Hered 1982;32(2):100-5. PMID: 7095811

Prognosis

Fletcher JL, Taylor RM
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
Malatt C, Koning JL, Naheedy J
J Radiol Case Rep 2015 May;9(5):30-8. Epub 2015 May 31 doi: 10.3941/jrcr.v9i5.2149. PMID: 26622931Free PMC Article
Menéndez-Sainz C, González-Quevedo A, González-García S, Peña-Sánchez M, Giugliani R
Genet Mol Res 2012 Aug 13;11(3):2352-9. doi: 10.4238/2012.August.13.9. PMID: 22911605
Kau T, Karlo C, Güngör T, Prietsch V, Kellenberger CJ, Scheer I, Boltshauser E
Neuroradiology 2011 Jul;53(7):509-16. Epub 2011 Mar 8 doi: 10.1007/s00234-011-0855-1. PMID: 21384124
Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi MF
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S313-6. Epub 2008 Jul 27 doi: 10.1007/s10545-008-0891-0. PMID: 18651239

Clinical prediction guides

Kau T, Karlo C, Güngör T, Prietsch V, Kellenberger CJ, Scheer I, Boltshauser E
Neuroradiology 2011 Jul;53(7):509-16. Epub 2011 Mar 8 doi: 10.1007/s00234-011-0855-1. PMID: 21384124
Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi MF
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S313-6. Epub 2008 Jul 27 doi: 10.1007/s10545-008-0891-0. PMID: 18651239
Lin SP, Chang JH, de la Cadena MP, Chang TF, Lee-Chen GJ
J Hum Genet 2007;52(6):553-6. Epub 2007 Apr 11 doi: 10.1007/s10038-007-0136-3. PMID: 17427030
Michalski JC, Klein A
Biochim Biophys Acta 1999 Oct 8;1455(2-3):69-84. PMID: 10571005
Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS
Eur J Hum Genet 1999 Jan;7(1):60-7. doi: 10.1038/sj.ejhg.5200272. PMID: 10094192

Recent systematic reviews

Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

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