Infantile GM1 gangliosidosis
- Synonyms
- GLB1 deficiency; GM1 gangliosidosis type 1; GM1-gangliosidosis, type I; Gangliosidosis, Generalized GM1, Type 1; Gangliosidosis, generalized GM1, infantile form
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Debra S Regier
- Cynthia J Tifft
- Caroline E Rothermel
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (63 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
- Depressed nasal ridge
Depressed nasal ridge
- MedGen UID: 334631
- Concept ID: C1842876
- Finding: Finding
Abnormality of head or neck
- Gingival overgrowth
Gingival overgrowth
- MedGen UID: 87712
- Concept ID: C0376480
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Coarse facial features
- Abnormality of metabolism/homeostasis
- Decreased beta-galactosidase activity
Decreased beta-galactosidase activity
- MedGen UID: 383939
- Concept ID: C1856559
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased beta-galactosidase 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
- Abnormal heart valve morphology
Abnormal heart valve morphology
- MedGen UID: 892837
- Concept ID: C0241654
- Finding: Finding
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
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Abnormal heart valve morphology
- Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Abnormality of the urinary system
Abnormality of the urinary system
- MedGen UID: 867444
- Concept ID: C4021821
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Abnormality of the urinary system
- 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
- Splenomegaly
- Abnormality of the integument
- Fabry disease
Fabry disease
- MedGen UID: 8083
- Concept ID: C0002986
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypertrichosis
Hypertrichosis
- MedGen UID: 43787
- Concept ID: C0020555
- Finding: Disease or Syndrome
Abnormality of the integument
- Fabry disease
- Abnormality of the musculoskeletal system
- Beaking of vertebral bodies
Beaking of vertebral bodies
- MedGen UID: 341588
- Concept ID: C1856599
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hurler syndrome
Hurler syndrome
- MedGen UID: 39698
- Concept ID: C0086795
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplastic vertebral bodies
Hypoplastic vertebral bodies
- MedGen UID: 354963
- Concept ID: C1863353
- Finding: Congenital Abnormality
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
- Joint stiffness
Joint stiffness
- MedGen UID: 56403
- Concept ID: C0162298
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Thickened ribs
Thickened ribs
- MedGen UID: 98096
- Concept ID: C0426820
- Finding: Finding
Abnormality of the musculoskeletal system
- Beaking of vertebral bodies
- Abnormality of the nervous system
- Cerebral degeneration
Cerebral degeneration
- MedGen UID: 56343
- Concept ID: C0154671
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- 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
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebral degeneration
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Severe short stature
Severe short stature
- MedGen UID: 3931
- Concept ID: C0013336
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
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