Osteopetrosis, autosomal recessive 1

Preferred Label : Osteopetrosis, autosomal recessive 1;

Symbol : OPTB1;

CISMeF acronym : OPTB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marble bones, autosomal recessive; Osteopetrosis, infantile malignant 1; Albers-schonberg disease, autosomal recessive;

Description : Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). - Genetic Heterogeneity of Autosomal Recessive Osteopetrosis Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the T-cell immune regulator 1 gene (TCIRG1, 604592.0001);

Laboratory abnormalities : Low serum calcium; Elevated serum phosphorus; Elevated alkaline phosphatase;

Prefixed ID : #259700;

Details

Origin ID

259700;

UMLS CUI

C1850127;

Broader ORDO disease(s)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal Recessive Osteopetrosis 1 [NCIt concept]
- autosomal recessive osteopetrosis 1 [DO Concept]
- osteopetrosis, autosomal recessive 1 [MeSH concept]
- osteopetrosis, autosomal recessive 1 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive osteopetrosis 1 [DO Concept]
Genes related to phenotype
- T cell immune regulator 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Calvarial osteosclerosis [HPO term]
- Carious teeth [HPO term]
- Coxa vara [HPO term]
- Cranial nerve paralysis [HPO term]
- Craniosynostosis [HPO term]
- Deafness [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Facial palsy [HPO term]
- Facial paralysis [HPO term]
- Failure to thrive [HPO term]
- Femur fracture [HPO term]
- Flared metaphysis [HPO term]
- Frontal bossing [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hydrocephalus [HPO term]
- Hypocalcemia [HPO term]
- Increased bone mineral density [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Infantile onset [HPO term]
- Macrocephaly [HPO term]
- Nystagmus [HPO term]
- Ophthalmoparesis [HPO term]
- Optic atrophy [HPO term]
- Osteomyelitis [HPO term]
- Osteopetrosis [HPO term]
- Pancytopenia [HPO term]
- Pathologic fracture [HPO term]
- Sandwich appearance of vertebral bodies [HPO term]
- Seizure [HPO term]
- Splayed metaphyses [HPO term]
- Splenomegaly [HPO term]
- Tetany [HPO term]
- Thrombocytopenia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Osteopetrosis 1 [NCIt concept]
- autosomal recessive osteopetrosis 1 [DO Concept]
- osteopetrosis, autosomal recessive 1 [MeSH Supplementary Concept]
- osteopetrosis, autosomal recessive 1 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive malignant osteopetrosis [ORDO Disease]

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