{"Name":"Autosomal recessive osteopetrosis 1","DiseaseID__c":"GARD:0002579","id":2579,"encodedName":"autosomal-recessive-osteopetrosis-1","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive osteopetrosis 1","Xref_IDs__c":"C167215; C1850127; C564915; DOID:0110942; MEDGEN:376708; MONDO:0009815; OMIM:259700","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009815","Disease_Description__c":"Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.","GARD_Name__c":"Autosomal recessive osteopetrosis 1","GARD_Synonym__c":"albers-schonberg disease, autosomal recessive; autosomal recessive albers-schonberg disease; autosomal recessive malignant osteopetrosis caused by mutation in tcirg1; autosomal recessive osteopetrosis caused by mutation in tcirg1; autosomal recessive osteopetrosis type 1; infantile malignant osteopetrosis 1; optb1; osteopetrosis, autosomal recessive type 1; tcirg1 autosomal recessive malignant osteopetrosis; tcirg1 autosomal recessive osteopetrosis; tcirg1-related autosomal recessive osteopetrosis","Curated_Disease_Description_Source__c":"MONDO:0009815","Curated_Disease_Description__c":"Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:259700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009815","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.","Curated_Disease_Description_Source__c":"MONDO:0009815","GARD_Synonym__c":"albers-schonberg disease, autosomal recessive; autosomal recessive albers-schonberg disease; autosomal recessive malignant osteopetrosis caused by mutation in tcirg1; autosomal recessive osteopetrosis caused by mutation in tcirg1; autosomal recessive osteopetrosis type 1; infantile malignant osteopetrosis 1; optb1; osteopetrosis, autosomal recessive type 1; tcirg1 autosomal recessive malignant osteopetrosis; tcirg1 autosomal recessive osteopetrosis; tcirg1-related autosomal recessive osteopetrosis","Name":"Autosomal recessive osteopetrosis 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Osteopetrosis Support Trust","Website__c":"https://www.osteopetrosis-support-trust.org.uk/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002579","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C167215","Source__c":"C1850127; MONDO:0009815","Xref__c":"C167215"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850127","Source__c":"C1850127","Xref__c":"C1850127"},{"URL__c":"https://www.omim.org/entry/259700","Source__c":"C1850127; MONDO:0009815","Xref__c":"OMIM:259700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564915","Source__c":"MONDO:0009815","Xref__c":"C564915"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110942","Source__c":"MONDO:0009815","Xref__c":"DOID:0110942"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376708","Source__c":"C1850127","Xref__c":"MEDGEN:376708"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009815","Source__c":"GARD:0002579","Xref__c":"MONDO:0009815"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK617444/","Source__c":"Gene Review","Xref__c":"NBK617444"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TCIRG1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tcirg1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; 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Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011001","HPO_Synonym__c":"Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones","HPO_Name__c":"Increased bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003015","HPO_Synonym__c":"Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses","HPO_Name__c":"Flared metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001281","HPO_Synonym__c":"Intermittent involuntary muscle spasm","HPO_Name__c":"Tetany","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007209","HPO_Synonym__c":"Facial paralysis; Facial paresis","HPO_Name__c":"Facial paralysis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000597","HPO_Synonym__c":"Extraocular muscle palsy; Extraocular muscle paralysis; Weakness of extraocular eye movement; Weakness of muscles controlling eye movement","HPO_Name__c":"Ophthalmoparesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011002","HPO_Synonym__c":"Harder, denser, fracture-prone bones","HPO_Name__c":"Osteopetrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004618","HPO_Name__c":"Sandwich appearance of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in bone density affecting the calvaria (roof of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005450","HPO_Name__c":"Calvarial osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A break or crush injury of the thigh bone (femur).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031846","HPO_Synonym__c":"Femoral fracture","HPO_Name__c":"Femur fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002901","HPO_Synonym__c":"Hypocalcaemia; Low blood calcium levels","HPO_Name__c":"Hypocalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:259700","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["albers-schonberg disease, autosomal recessive"," autosomal recessive albers-schonberg disease"," autosomal recessive malignant osteopetrosis caused by mutation in tcirg1"," autosomal recessive osteopetrosis caused by mutation in tcirg1"," autosomal recessive osteopetrosis type 1"," infantile malignant osteopetrosis 1"," optb1"," osteopetrosis, autosomal recessive type 1"," tcirg1 autosomal recessive malignant osteopetrosis"," tcirg1 autosomal recessive osteopetrosis"," tcirg1-related autosomal recessive osteopetrosis"]}