{"Name":"X-linked myotubular myopathy-abnormal genitalia syndrome","DiseaseID__c":"GARD:0017792","id":17792,"encodedName":"x-linked-myotubular-myopathy-abnormal-genitalia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked myotubular myopathy-abnormal genitalia syndrome","Xref_IDs__c":"C1846169; C564561; MEDGEN:335354; MONDO:0010271; OMIM:300219; ORPHA:456328","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010271","Disease_Description__c":"X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.","GARD_Name__c":"X-linked myotubular myopathy-abnormal genitalia syndrome","GARD_Synonym__c":"myotubular myopathy with abnormal genital development; x-linked myotubular myopathy, abnormal genitalia syndrome; xq28 contiguous gene deletion syndrome","Curated_Disease_Description_Source__c":"MONDO:0010271","Curated_Disease_Description__c":"X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:456328","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010271","ORPHANET_ID__c":"ORPHA:456328","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de miopatía miotubular-anomalías genitales ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:456328","Spanish_Description__c":"El síndrome de miopatía miotubular ligada al cromosoma X - anomalías genitales, es una anomalía cromosómica poco frecuente, consistente en una deleción parcial del brazo largo del cromosoma X. Está caracterizado por una combinación de manifestaciones clínicas de miopatía miotubular ligada al cromosoma X y un trastorno del desarrollo sexual con cariotipo 46,XY. Los afectados presentan una forma grave de miopatía congénita y genitales masculinos anómalos.","Spanish_Disease_Name__c":"síndrome de miopatía miotubular-anomalías genitales ligado al cromosoma x","Spanish_GARD_Synonym__c":"miopatía miotubular y genitales ambiguos; síndrome de deleción de genes contiguos xq28","Category_Linearization__c":"ORPHA:93890","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":"X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.","Curated_Disease_Description_Source__c":"MONDO:0010271","GARD_Synonym__c":"myotubular myopathy with abnormal genital development; x-linked myotubular myopathy, abnormal genitalia syndrome; xq28 contiguous gene deletion syndrome","Name":"X-linked myotubular myopathy-abnormal genitalia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Myotubular Trust","Website__c":"https://myotubulartrust.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:456328"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:456328"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564561","Source__c":"MONDO:0010271","Xref__c":"C564561"},{"URL__c":"https://www.omim.org/entry/300219","Source__c":"C1846169; MONDO:0010271; ORPHA:456328","Xref__c":"OMIM:300219"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846169","Source__c":"C1846169","Xref__c":"C1846169"},{"URL__c":"https://www.orpha.net/en/disease/detail/456328","Source__c":"C1846169; MONDO:0010271; ORPHA:456328","Xref__c":"ORPHA:456328"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335354","Source__c":"C1846169","Xref__c":"MEDGEN:335354"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010271","Source__c":"GARD:0017792","Xref__c":"MONDO:0010271"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1255278004","Source__c":"C1846169","Xref__c":"1255278004"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040314","HPO_Synonym__c":"Blind-ended vagina","HPO_Name__c":"Blind vagina","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ribs with a reduced diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000883","HPO_Synonym__c":"Slender ribs; Thin ribs","HPO_Name__c":"Thin ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Location of the urethral opening on the inferior aspect of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003244","HPO_Name__c":"Penile hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Midline indentation or cleft of the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000048","HPO_Synonym__c":"Cleft of scrotum; Scrotal cleft","HPO_Name__c":"Bifid scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000808","HPO_Name__c":"Penoscrotal hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000807","HPO_Synonym__c":"Balanic hypospadias","HPO_Name__c":"Glanular hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:456328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Neurology","Endocrine","Urologist","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"]},"synonyms":["myotubular myopathy with abnormal genital development"," x-linked myotubular myopathy, abnormal genitalia syndrome"," xq28 contiguous gene deletion syndrome"]}