Aspartylglucosaminuria
- Synonyms
- AGA deficiency; Aspartylglucos-amidase (AGA) deficiency; Aspartylglucos-aminuria; Aspartylglycosaminuria; GLYCOASPARAGINASE; Glycosylasparaginase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Kimberly Goodspeed
- Xin Chen
- Michel Tchan
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Decreased prothrombin time
Decreased prothrombin time
- MedGen UID: 154375
- Concept ID: C0580413
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Decreased prothrombin time
- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Broad face
Broad face
- MedGen UID: 349223
- Concept ID: C1859680
- Finding: Finding
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 bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Macroglossia
Macroglossia
- MedGen UID: 44236
- Concept ID: C0024421
- Finding: Disease or Syndrome
Abnormality of head or neck
- Thick lower lip vermilion
Thick lower lip vermilion
- MedGen UID: 326567
- Concept ID: C1839739
- Finding: Finding
Abnormality of head or neck
- Wide mouth
Wide mouth
- MedGen UID: 44238
- Concept ID: C0024433
- Finding: Congenital Abnormality
Abnormality of head or neck
- Anteverted nares
- Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis
- MedGen UID: 867398
- Concept ID: C4021768
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced tissue aspartylglucosaminidase activity
Reduced tissue aspartylglucosaminidase activity
- MedGen UID: 1052734
- Concept ID: CN377405
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral regurgitation
- Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Diarrhea
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Aspartylglucosaminuria
Aspartylglucosaminuria
- MedGen UID: 78649
- Concept ID: C0268225
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Macroorchidism
Macroorchidism
- MedGen UID: 224727
- Concept ID: C1263023
- Finding: Finding
Abnormality of the genitourinary system
- Aspartylglucosaminuria
- Abnormality of the immune system
- Acne
Acne
- MedGen UID: 152379
- Concept ID: C0702166
- Finding: Disease or Syndrome
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Vacuolated lymphocytes
Vacuolated lymphocytes
- MedGen UID: 332307
- Concept ID: C1836855
- Finding: Finding
Abnormality of the immune system
- Acne
- Abnormality of the integument
- Fabry disease
Fabry disease
- MedGen UID: 8083
- Concept ID: C0002986
- 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
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Dysostosis multiplex
Dysostosis multiplex
- MedGen UID: 1851010
- Concept ID: C5848292
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hernia
Hernia
- MedGen UID: 6816
- Concept ID: C0019270
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplastic frontal sinuses
Hypoplastic frontal sinuses
- MedGen UID: 349225
- Concept ID: C1859682
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Pathologic fracture
Pathologic fracture
- MedGen UID: 42095
- Concept ID: C0016663
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Spondylolisthesis
Spondylolisthesis
- MedGen UID: 52470
- Concept ID: C0038016
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Spondylolysis
Spondylolysis
- MedGen UID: 21294
- Concept ID: C0038018
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Thickened calvaria
Thickened calvaria
- MedGen UID: 346823
- Concept ID: C1858452
- Finding: Finding
Abnormality of the musculoskeletal system
- Beaking of vertebral bodies
- Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
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
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebral atrophy
- Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Recurrent respiratory infections
- Abnormality of the voice
- Hoarse voice
Hoarse voice
- MedGen UID: 5602
- Concept ID: C0019825
- Finding: Sign or Symptom
Abnormality of the voice
- Hoarse voice
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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