{"Name":"GNPTG-mucolipidosis","DiseaseID__c":"GARD:0017705","id":17705,"encodedName":"gnptg-mucolipidosis","IsDeleted":false,"Disease_Name_Full__c":"GNPTG-mucolipidosis","Xref_IDs__c":"C129978; C1854896; C565367; DOID:0080678; MEDGEN:340743; MONDO:0009652; OMIM:252605; ORPHA:423470","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009652","Disease_Description__c":"Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.","GARD_Name__c":"GNPTG-mucolipidosis","GARD_Synonym__c":"ml 3 gamma; ml iii gamma; ml iiic; mucolipidosis iii, complementation group c; mucolipidosis iii, iranian variant form; mucolipidosis iii, variant form; mucolipidosis type 3 gamma; mucolipidosis type iii gamma","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Mucolipidosis type III gamma (ML 3 gamma) is a very rare genetic condition. It affects the lysosomes, which play a role in the removal of toxins from the body. It is most commonly seen in the Middle East. This disease is characterized by slow growth in early childhood. It also causes stiffness and pain in the shoulders, hips, and finger joints, and the development of thick or rounded facial features over time. Cognitive function is usually normal or slightly impaired. Gradual vision loss as a result of retinitis pigmentosa (a rare genetic eye disease that affects the retina) has also occurred in some cases. The symptoms of ML 3 gamma progress more slowly than other subtypes of this disease (mucolipidosis type II and type III alpha/beta). Late symptoms may include heart and lung problems that can become life threatening.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:423470","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009652","ORPHANET_ID__c":"ORPHA:423470","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mucolipidosis tipo iii gamma","Spanish_Description_Source__c":"ORPHA:423470","Spanish_Description__c":"Es una enfermedad lisosomal muy poco frecuente descrita con mayor frecuencia en el Medio Oriente y que está caracterizada por una disminución progresiva de la tasa de crecimiento en la primera infancia; rigidez y dolor en los hombros, caderas y articulaciones de los dedos; engrosamiento gradual y leve de los rasgos faciales; y por una progresión más lenta, un curso clínico más leve y una esperanza de vida más larga que la observada en la mucolipidosis tipo II y la mucolipidosis tipo III alfa/beta. La función cognitiva es normal o está levemente afectada y se ha descrito retinosis pigmentaria en algunos pacientes. Muchos sobreviven hasta la edad adulta temprana, pero finalmente sucumben a la insuficiencia cardiorrespiratoria.","Spanish_Disease_Name__c":"mucolipidosis tipo iii gamma","Spanish_GARD_Synonym__c":"ml 3 gamma; ml iii gamma; mucolipidosis tipo 3 gamma","Category_Linearization__c":"ORPHA:68367","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":"Mucolipidosis type III gamma (ML 3 gamma) is a very rare genetic condition. It affects the lysosomes, which play a role in the removal of toxins from the body. It is most commonly seen in the Middle East. This disease is characterized by slow growth in early childhood. It also causes stiffness and pain in the shoulders, hips, and finger joints, and the development of thick or rounded facial features over time. Cognitive function is usually normal or slightly impaired. Gradual vision loss as a result of retinitis pigmentosa (a rare genetic eye disease that affects the retina) has also occurred in some cases. The symptoms of ML 3 gamma progress more slowly than other subtypes of this disease (mucolipidosis type II and type III alpha/beta). Late symptoms may include heart and lung problems that can become life threatening.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"ml 3 gamma; ml iii gamma; ml iiic; mucolipidosis iii, complementation group c; mucolipidosis iii, iranian variant form; mucolipidosis iii, variant form; mucolipidosis type 3 gamma; mucolipidosis type iii gamma","Name":"GNPTG-mucolipidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National MPS Society","Website__c":"https://mpssociety.org/"},{"Account_Name__c":"Society for Mucopolysaccharide Diseases","Website__c":"https://www.mpssociety.org.uk/"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK24701","Source__c":"Gene Review","Xref__c":"NBK24701"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080678","Source__c":"MONDO:0009652","Xref__c":"DOID:0080678"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565367","Source__c":"MONDO:0009652","Xref__c":"C565367"},{"URL__c":"https://www.orpha.net/en/disease/detail/423470","Source__c":"C1854896; MONDO:0009652; ORPHA:423470","Xref__c":"ORPHA:423470"},{"URL__c":"https://www.omim.org/entry/252605","Source__c":"C1854896; MONDO:0009652; ORPHA:423470","Xref__c":"OMIM:252605"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340743","Source__c":"C1854896","Xref__c":"MEDGEN:340743"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854896","Source__c":"C1854896","Xref__c":"C1854896"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129978","Source__c":"C1854896; MONDO:0009652","Xref__c":"C129978"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009652","Source__c":"GARD:0017705","Xref__c":"MONDO:0009652"},{"URL__c":"https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma","Source__c":"GARD:0017705","Xref__c":"https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNPTG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnptg","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal flattening of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003370","HPO_Synonym__c":"Flat capital femoral epiphyses; Flat end part of innermost thighbone; Flat femoral capital epiphyses; Flat proximal femoral epiphyses; Flattened proximal femoral epiphyses","HPO_Name__c":"Flat capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000943","HPO_Name__c":"Dysostosis multiplex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"An increased level of iduronate-2-sulfatase activity in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003538","HPO_Synonym__c":"Increased serum iduronate sulfatase level","HPO_Name__c":"Increased iduronate sulfatase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034665","HPO_Name__c":"Shoulder contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003333","HPO_Name__c":"Increased serum beta-hexosaminidase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002869","HPO_Synonym__c":"Flared iliac wings","HPO_Name__c":"Flared iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034681","HPO_Name__c":"Finger joint contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034337","HPO_Name__c":"Claw hand deformity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"Reduced transparency of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007759","HPO_Synonym__c":"Cloudy cornea; Corneal stromal opacity","HPO_Name__c":"Opacification of the corneal stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"The presence of a stenosis (narrowing) of the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001650","HPO_Synonym__c":"Aortic stenosis; Narrowing of aortic valve; Valvular aortic stenosis","HPO_Name__c":"Aortic valve stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252605","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Orthopedics"],"Account":["Lysosomal"]},"synonyms":["ml 3 gamma"," ml iii gamma"," ml iiic"," mucolipidosis iii, complementation group c"," mucolipidosis iii, iranian variant form"," mucolipidosis iii, variant form"," mucolipidosis type 3 gamma"," mucolipidosis type iii gamma"]}