Sialidosis type 2
- Synonyms
- CHERRY RED SPOT--MYOCLONUS SYNDROME; Glycoprotein neuraminidase deficiency; Lipomucopolysaccharidosis; ML I; Mucolipidosis I; Mucolipidosis type 1; NEU 1 deficiency; NEU DEFICIENCY; Neuraminidase 1 deficiency; Neuraminidase deficiency; Sialidase deficiency; Sialidosis, type II
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (45 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Facial edema
Facial edema
- MedGen UID: 154241
- Concept ID: C0542571
- Finding: Pathologic Function
Abnormality of head or neck
- Coarse facial features
- Abnormality of metabolism/homeostasis
- Reduced tissue neuraminidase activity
Reduced tissue neuraminidase activity
- MedGen UID: 1054044
- Concept ID: CN378263
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced tissue neuraminidase activity
- Abnormality of prenatal development or birth
- Hydrops fetalis
Hydrops fetalis
- MedGen UID: 6947
- Concept ID: C0020305
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Hydrops fetalis
- Abnormality of the cardiovascular system
- Cardiomegaly
Cardiomegaly
- MedGen UID: 5459
- Concept ID: C0018800
- Finding: Finding
Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cherry red spot of the macula
Cherry red spot of the macula
- MedGen UID: 786046
- Concept ID: C2216370
- Finding: Finding
Abnormality of the cardiovascular system
- Cardiomegaly
- Abnormality of the digestive system
- Ascites
Ascites
- MedGen UID: 416
- Concept ID: C0003962
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Ascites
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Progressive visual loss
Progressive visual loss
- MedGen UID: 326867
- Concept ID: C1839364
- Finding: Finding
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Increased urinary O-linked sialopeptides
Increased urinary O-linked sialopeptides
- MedGen UID: 373111
- Concept ID: C1836533
- Finding: Finding
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Urinary excretion of sialylated oligosaccharides
Urinary excretion of sialylated oligosaccharides
- MedGen UID: 435893
- Concept ID: C2673302
- Finding: Finding
Abnormality of the genitourinary system
- Increased urinary O-linked sialopeptides
- Abnormality of the immune system
- Bone-marrow foam cells
Bone-marrow foam cells
- MedGen UID: 383940
- Concept ID: C1856560
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Vacuolated lymphocytes
Vacuolated lymphocytes
- MedGen UID: 332307
- Concept ID: C1836855
- Finding: Finding
Abnormality of the immune system
- Bone-marrow foam cells
- Abnormality of the musculoskeletal system
- Dysostosis multiplex
Dysostosis multiplex
- MedGen UID: 1851010
- Concept ID: C5848292
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Epiphyseal stippling
Epiphyseal stippling
- MedGen UID: 349104
- Concept ID: C1859126
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Dysostosis multiplex
- Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Slurred speech
Slurred speech
- MedGen UID: 65885
- Concept ID: C0234518
- Finding: Finding
Abnormality of the nervous system
- Dysmetria
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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