{"Name":"Syndromic X-linked intellectual disability Lubs type","DiseaseID__c":"GARD:0009781","id":9781,"encodedName":"syndromic-x-linked-intellectual-disability-lubs-type","IsDeleted":false,"Disease_Name_Full__c":"Syndromic X-linked intellectual disability Lubs type","Xref_IDs__c":"423022967; 702816000; C126747; C1846058; C537723; DOID:0060799; MEDGEN:337496; MONDO:0010283; OMIM:300260; ORPHA:1762","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010283","Disease_Description__c":"A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the <i>MECP2</i> gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.","GARD_Name__c":"Syndromic X-linked intellectual disability Lubs type","GARD_Synonym__c":"distal duplication xq; intellectual developmental disorder, x-linked syndromic, lubs type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic, lubs type; intellectual disability, x-linked, syndromic, lubs type; intellectual disability, x-linked, with recurrent respiratory infections; lubs x-linked intellectual disability syndrome; mecp2 duplication syndrome; methyl-cpg (cytosine phosphate guanine) binding protein-2 duplication syndrome; methyl-cytosine phosphate guanine binding protein-2 duplication syndrome; mrxsl; proximal xq28 duplication syndrome; telomeric duplication xq; x-linked intellectual disability syndrome, lubs type; x-linked intellectual disability-hypotonia-recurrent infections syndrome; xq28 (mecp2) duplication","Curated_Disease_Description_Source__c":"GARD:0009781","Curated_Disease_Description__c":"MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (rigidity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. About half of individuals have seizures, often of the tonic-clonic type. This type of seizure involves a loss of consciousness, muscle rigidity, and convulsions and may not respond to medication. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately half of individuals learn to walk, and about one-third of people with this condition require assistance when walking. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with only half surviving past age 25.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1762","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010283","ORPHANET_ID__c":"ORPHA:1762","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación xq28 proximal","Spanish_Description_Source__c":"ORPHA:1762","Spanish_Description__c":"Es un trastorno poco frecuente de base genética ligado al cromosoma X asociado con duplicaciones cromosómicas intersticiales en Xq28 que abarca al gen <i>MECP2</i>. Se caracteriza, en varones, por hipotonía de inicio en el periodo de lactancia, grave retraso global del desarrollo, discapacidad intelectual, espasticidad progresiva, crisis, trastornos digestivos e infecciones respiratorias recurrentes. En mujeres, el fenotipo es más variable.","Spanish_Disease_Name__c":"síndrome de duplicación xq28 proximal","Spanish_GARD_Synonym__c":"síndrome de discapacidad intelectual ligado al cromosoma x, tipo lubs; síndrome de duplicación del gen mecp2","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":"MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (rigidity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. About half of individuals have seizures, often of the tonic-clonic type. This type of seizure involves a loss of consciousness, muscle rigidity, and convulsions and may not respond to medication. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately half of individuals learn to walk, and about one-third of people with this condition require assistance when walking. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with only half surviving past age 25.","Curated_Disease_Description_Source__c":"GARD:0009781","GARD_Synonym__c":"distal duplication xq; intellectual developmental disorder, x-linked syndromic, lubs type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic, lubs type; intellectual disability, x-linked, syndromic, lubs type; intellectual disability, x-linked, with recurrent respiratory infections; lubs x-linked intellectual disability syndrome; mecp2 duplication syndrome; methyl-cpg (cytosine phosphate guanine) binding protein-2 duplication syndrome; methyl-cytosine phosphate guanine binding protein-2 duplication syndrome; mrxsl; proximal xq28 duplication syndrome; telomeric duplication xq; x-linked intellectual disability syndrome, lubs type; x-linked intellectual disability-hypotonia-recurrent infections syndrome; xq28 (mecp2) duplication","Name":"Syndromic X-linked intellectual disability Lubs type","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Miradas que hablan Duplicación Mecp2","Website__c":"https://duplicacionmecp2.es/"},{"Account_Name__c":"MECP2 Duplication Foundation","Website__c":"https://mecp2d.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Rett Syndrome Research Trust","Website__c":"https://reverserett.org/"},{"Account_Name__c":"Rett UK","Website__c":"https://www.rettuk.org/"},{"Account_Name__c":"International Rett Syndrome Foundation","Website__c":"https://www.rettsyndrome.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":"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1762"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1762"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009781","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK349624","Xref__c":"NBK349624"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537723","Source__c":"MONDO:0010283","Xref__c":"C537723"},{"URL__c":"https://www.orpha.net/en/disease/detail/1762","Source__c":"C1846058; MONDO:0010283; ORPHA:1762","Xref__c":"ORPHA:1762"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702816000","Source__c":"C1846058; MONDO:0010283","Xref__c":"702816000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126747","Source__c":"C1846058; MONDO:0010283","Xref__c":"C126747"},{"URL__c":"https://www.omim.org/entry/300260","Source__c":"C1846058; MONDO:0010283","Xref__c":"OMIM:300260"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060799","Source__c":"MONDO:0010283","Xref__c":"DOID:0060799"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846058","Source__c":"C1846058","Xref__c":"C1846058"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337496","Source__c":"C1846058","Xref__c":"MEDGEN:337496"},{"URL__c":"https://medlineplus.gov/genetics/condition/mecp2-duplication-syndrome","Source__c":"GARD:0009781","Xref__c":"https://medlineplus.gov/genetics/condition/mecp2-duplication-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010283","Source__c":"GARD:0009781","Xref__c":"MONDO:0010283"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1284","Source__c":"Gene Review","Xref__c":"NBK1284"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022967","Xref__c":"423022967"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MECP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mecp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010804","HPO_Synonym__c":"Inverted V-shaped upper lip","HPO_Name__c":"Tented upper lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a hernia in the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004299","HPO_Synonym__c":"Herniated abdominal wall","HPO_Name__c":"Hernia of the abdominal wall","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of chromosome segregation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002916","HPO_Name__c":"Abnormality of chromosome segregation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1762","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["distal duplication xq"," intellectual developmental disorder, x-linked syndromic, lubs type, x-linked recessive"," intellectual developmental disorder, x-linked, syndromic, lubs type"," intellectual disability, x-linked, syndromic, lubs type"," intellectual disability, x-linked, with recurrent respiratory infections"," lubs x-linked intellectual disability syndrome"," mecp2 duplication syndrome"," methyl-cpg (cytosine phosphate guanine) binding protein-2 duplication syndrome"," methyl-cytosine phosphate guanine binding protein-2 duplication syndrome"," mrxsl"," proximal xq28 duplication syndrome"," telomeric duplication xq"," x-linked intellectual disability syndrome, lubs type"," x-linked intellectual disability-hypotonia-recurrent infections syndrome"," xq28 (mecp2) duplication"],"spanishId":13553,"spanishName":"sindrome-de-duplicacion-de-mecp2"}