{"Name":"Autosomal recessive osteopetrosis 6","DiseaseID__c":"GARD:0004156","id":4156,"encodedName":"autosomal-recessive-osteopetrosis-6","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive osteopetrosis 6","Xref_IDs__c":"C1969093; C566931; DOID:0110945; MEDGEN:409754; MONDO:0012679; OMIM:611497; ORPHA:210110","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012679","Disease_Description__c":"Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.","GARD_Name__c":"Autosomal recessive osteopetrosis 6","GARD_Synonym__c":"autosomal recessive intermediate osteopetrosis; autosomal recessive osteopetrosis intermediate form; autosomal recessive osteopetrosis type 6; intermediate osteopetrosis; optb6; osteopetrosis (disease) caused by mutation in plekhm1; osteopetrosis, autosomal recessive type 6; plekhm1 osteopetrosis (disease); plekhm1-related autosomal recessive osteopetrosis","Curated_Disease_Description_Source__c":"GARD:0004156","Curated_Disease_Description__c":"Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with serious complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by genetic changes in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:210110","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012679","ORPHANET_ID__c":"ORPHA:210110","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteopetrosis intermedia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"osteopetrosis intermedia","Spanish_GARD_Synonym__c":"osteopetrosis intermedia autosómica recesiva","Category_Linearization__c":"ORPHA:93419","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":"Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with serious complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by genetic changes in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0004156","GARD_Synonym__c":"autosomal recessive intermediate osteopetrosis; autosomal recessive osteopetrosis intermediate form; autosomal recessive osteopetrosis type 6; intermediate osteopetrosis; optb6; osteopetrosis (disease) caused by mutation in plekhm1; osteopetrosis, autosomal recessive type 6; plekhm1 osteopetrosis (disease); plekhm1-related autosomal recessive osteopetrosis","Name":"Autosomal recessive osteopetrosis 6","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:210110"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1969093"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004156","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/611497","Source__c":"C1969093; MONDO:0012679; ORPHA:210110","Xref__c":"OMIM:611497"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110945","Source__c":"MONDO:0012679","Xref__c":"DOID:0110945"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566931","Source__c":"MONDO:0012679","Xref__c":"C566931"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=409754","Source__c":"C1969093","Xref__c":"MEDGEN:409754"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1969093","Source__c":"C1969093","Xref__c":"C1969093"},{"URL__c":"https://www.orpha.net/en/disease/detail/210110","Source__c":"C1969093; MONDO:0012679","Xref__c":"ORPHA:210110"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012679","Source__c":"GARD:0004156","Xref__c":"MONDO:0012679"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLEKHM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Flaring of distal femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004975","HPO_Synonym__c":"Erlenmeyer flask deformity of distal femur; Erlenmeyer flask femora; Erlenmeyer flask shaped thighbone","HPO_Name__c":"Erlenmeyer flask deformity of the femurs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:210110","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:210110","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004348","HPO_Synonym__c":"Abnormality of bone mineralisation and ossification","HPO_Name__c":"Abnormality of bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001293","HPO_Name__c":"Cranial nerve compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Excluded (0%)","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":"ORPHA:210110","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in bone density affecting the basicranium (base of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005746","HPO_Synonym__c":"Osteosclerosis of the skull base","HPO_Name__c":"Osteosclerosis of the base of the skull","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006482","HPO_Synonym__c":"Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth","HPO_Name__c":"Abnormal dental morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Excluded (0%)","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":"ORPHA:210110","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density with generalized involvement of the skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005789","HPO_Synonym__c":"Diffuse, symmetrical osteosclerosis; Osteosclerosis, diffuse symmetrical","HPO_Name__c":"Generalized osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031035","HPO_Name__c":"Chronic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007958","HPO_Name__c":"Optic atrophy from cranial nerve compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005652","HPO_Name__c":"Cortical sclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210110","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["autosomal recessive intermediate osteopetrosis"," autosomal recessive osteopetrosis intermediate form"," autosomal recessive osteopetrosis type 6"," intermediate osteopetrosis"," optb6"," osteopetrosis (disease) caused by mutation in plekhm1"," osteopetrosis, autosomal recessive type 6"," plekhm1 osteopetrosis (disease)"," plekhm1-related autosomal recessive osteopetrosis"]}