Osteopetrosis with renal tubular acidosis
- Synonyms
- Autosomal recessive osteopetrosis type 3; Carbonic anhydrase 2 deficiency; Guibaud Vainsel syndrome; Marble brain disease; Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (61 available)
Clinical features
Help- Abnormal cellular phenotype
- Elevated serum acid phosphatase
Elevated serum acid phosphatase
- MedGen UID: 326597
- Concept ID: C1839866
- Finding: Finding
Abnormal cellular phenotype
- Elevated serum acid phosphatase
- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Extramedullary hematopoiesis
Extramedullary hematopoiesis
- MedGen UID: 392862
- Concept ID: C2613439
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Dental malocclusion
Dental malocclusion
- MedGen UID: 9869
- Concept ID: C0024636
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Dental malocclusion
- Abnormality of metabolism/homeostasis
- Distal renal tubular acidosis
Distal renal tubular acidosis
- MedGen UID: 853429
- Concept ID: C1704380
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Distal renal tubular acidosis
- Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatosplenomegaly
- Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Visual loss
Visual loss
- MedGen UID: 784038
- Concept ID: C3665386
- Finding: Finding
Abnormality of the eye
- Visual impairment
- Abnormality of the musculoskeletal system
- Basal ganglia calcification
Basal ganglia calcification
- MedGen UID: 234651
- Concept ID: C1389280
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Cerebral calcification
Cerebral calcification
- MedGen UID: 124360
- Concept ID: C0270685
- Finding: Finding
Abnormality of the musculoskeletal system
- Cranial hyperostosis
Cranial hyperostosis
- MedGen UID: 318629
- Concept ID: C1832451
- Finding: Finding
Abnormality of the musculoskeletal system
- Diaphyseal sclerosis
Diaphyseal sclerosis
- MedGen UID: 1631208
- Concept ID: C4551853
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteopetrosis
Osteopetrosis
- MedGen UID: 18223
- Concept ID: C0029454
- Finding: Finding
Abnormality of the musculoskeletal system
- Basal ganglia calcification
- 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
- Optic nerve compression
Optic nerve compression
- MedGen UID: 78765
- Concept ID: C0271344
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Periodic hypokalemic paresis
Periodic hypokalemic paresis
- MedGen UID: 867195
- Concept ID: C4021553
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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