{"Name":"X-linked intellectual disability-psychosis-macroorchidism syndrome","DiseaseID__c":"GARD:0003506","id":3506,"encodedName":"x-linked-intellectual-disability-psychosis-macroorchidism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked intellectual disability-psychosis-macroorchidism syndrome","Xref_IDs__c":"702356009; C0796222; DOID:0060827; MEDGEN:163232; MONDO:0010235; OMIM:300055; ORPHA:3077","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:3077","Disease_Description__c":"An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.","GARD_Name__c":"X-linked intellectual disability-psychosis-macroorchidism syndrome","GARD_Synonym__c":"intellectual developmental disorder, x-linked, syndromic 13; intellectual developmental disorder, x-linked, syndromic 13, x-linked recessive; intellectual disability with psychosis, pyramidal signs, and macroorchidism; intellectual disability, x-linked, syndromic 13; intellectual disability, x-linked, syndromic type 13; lindsay burn syndrome; lindsay-burn syndrome; mrxs13; ppm-x; ppm-x syndrome; ppmx - mental retardation with psychosis, pyramidal signs, and macroorchidism; x-linked intellectual disability 79; x-linked intellectual disability with spasticity; x-linked mental retardation, syndromic 13","Curated_Disease_Description_Source__c":"ORPHA:3077","Curated_Disease_Description__c":"PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development. Other symptoms may include muscle stiffness (spasticity), exaggerated reflexes, and an abnormally small head (microcephaly). Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability or learning disabilities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3077","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010235","ORPHANET_ID__c":"ORPHA:3077","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual-psicosis-macroorquidia ligado al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de discapacidad intelectual-psicosis-macroorquidia ligado al cromosoma x","Spanish_GARD_Synonym__c":"ppm-x; síndrome de lindsay-burn","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":"PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development. Other symptoms may include muscle stiffness (spasticity), exaggerated reflexes, and an abnormally small head (microcephaly). Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability or learning disabilities.","Curated_Disease_Description_Source__c":"ORPHA:3077","GARD_Synonym__c":"intellectual developmental disorder, x-linked, syndromic 13; intellectual developmental disorder, x-linked, syndromic 13, x-linked recessive; intellectual disability with psychosis, pyramidal signs, and macroorchidism; intellectual disability, x-linked, syndromic 13; intellectual disability, x-linked, syndromic type 13; lindsay burn syndrome; lindsay-burn syndrome; mrxs13; ppm-x; ppm-x syndrome; ppmx - mental retardation with psychosis, pyramidal signs, and macroorchidism; x-linked intellectual disability 79; x-linked intellectual disability with spasticity; x-linked mental retardation, syndromic 13","Name":"X-linked intellectual disability-psychosis-macroorchidism syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"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":"Childhood","Provided_By__c":"ORPHA:3077"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003506","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1497","Source__c":"Gene Review","Xref__c":"NBK1497"},{"URL__c":"https://www.omim.org/entry/300055","Source__c":"C0796222; MONDO:0010235; ORPHA:3077","Xref__c":"OMIM:300055"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702356009","Source__c":"C0796222; MONDO:0010235","Xref__c":"702356009"},{"URL__c":"https://www.orpha.net/en/disease/detail/3077","Source__c":"C0796222; MONDO:0010235; ORPHA:3077","Xref__c":"ORPHA:3077"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=163232","Source__c":"C0796222","Xref__c":"MEDGEN:163232"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060827","Source__c":"MONDO:0010235","Xref__c":"DOID:0060827"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796222","Source__c":"C0796222","Xref__c":"C0796222"},{"URL__c":"https://medlineplus.gov/genetics/condition/ppm-x-syndrome","Source__c":"GARD:0003506","Xref__c":"https://medlineplus.gov/genetics/condition/ppm-x-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010235","Source__c":"GARD:0003506","Xref__c":"MONDO:0010235"}],"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 dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011188","HPO_Name__c":"Focal EEG discharges with secondary generalization","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100852","HPO_Synonym__c":"Abnormal fear-induced behavior; Abnormal fear/anxiety-related behavior","HPO_Name__c":"Abnormal fear-induced behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002362","HPO_Synonym__c":"Shuffled walk","HPO_Name__c":"Shuffling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","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":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally large testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000053","HPO_Synonym__c":"Large testicles; Large testis","HPO_Name__c":"Macroorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002136","HPO_Synonym__c":"Broad based gait; Wide based gait; Wide based walk; Wide-based gait","HPO_Name__c":"Broad-based gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002061","HPO_Synonym__c":"Lower extremities spasticity; Lower extremity spasticity; Spastic lower extremities; Spastic lower extremity; Spastic lower limb; Spastic lower limbs; Spasticity in lower extremities; Spasticity in lower extremity; Spasticity in lower limb; Spasticity in lower limbs; Spasticity of lower extremities; Spasticity of lower extremity; Spasticity of lower limb; Spasticity of lower limbs","HPO_Name__c":"Lower limb spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007302","HPO_Synonym__c":"Bipolar depression; Bipolar disorder; Manic depressive","HPO_Name__c":"Bipolar affective disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; Hyperkinetic disorder; More active than typical","HPO_Name__c":"Hyperactivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002395","HPO_Synonym__c":"Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex","HPO_Name__c":"Lower limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A habitual positioning of the body with the head and upper back bent forward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025403","HPO_Name__c":"Stooped posture","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006801","HPO_Name__c":"Hyperactive deep tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002322","HPO_Synonym__c":"Rest tremor; Resting tremor; Tremor at rest","HPO_Name__c":"Resting tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3077","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:3077","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["intellectual developmental disorder, x-linked, syndromic 13"," intellectual developmental disorder, x-linked, syndromic 13, x-linked recessive"," intellectual disability with psychosis, pyramidal signs, and macroorchidism"," intellectual disability, x-linked, syndromic 13"," intellectual disability, x-linked, syndromic type 13"," lindsay burn syndrome"," lindsay-burn syndrome"," mrxs13"," ppm-x"," ppm-x syndrome"," ppmx - mental retardation with psychosis, pyramidal signs, and macroorchidism"," x-linked intellectual disability 79"," x-linked intellectual disability with spasticity"," x-linked mental retardation, syndromic 13"]}