{"Name":"MASA syndrome","DiseaseID__c":"GARD:0006986","id":6986,"encodedName":"masa-syndrome","IsDeleted":false,"Disease_Name_Full__c":"MASA syndrome","Xref_IDs__c":"716996008; 838441009; C0795953; C129930; DOID:0060246; MEDGEN:162894; MONDO:0010559; OMIM:303350; ORPHA:2466","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010559","Disease_Description__c":"A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.","GARD_Name__c":"MASA syndrome","GARD_Synonym__c":"gareis-mason syndrome; hereditary spastic paraplegia 1; intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome; masa (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome; masa syndrome (mental retardation, adducted thumbs, shuffling gait, and aphasia); masa syndrome, x-linked recessive; mental retardation, adducted thumbs, shuffling gait, aphasia syndrome; spastic paraplegia 1, x-linked; spastic paraplegia, x-linked; x-linked complicated hereditary spastic paraplegia type 1; x-linked corpus callosum agenesis; x-linked spastic paraplegia 1","Curated_Disease_Description_Source__c":"MONDO:0010559","Curated_Disease_Description__c":"A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2466","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010559","ORPHANET_ID__c":"ORPHA:2466","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome masa","Spanish_Description_Source__c":"ORPHA:2466","Spanish_Description__c":"Es un subtipo clínico ligado al cromosoma X del síndrome L1, caracterizado por discapacidad intelectual de leve a moderada, retraso en el desarrollo del habla, hipotonía que progresa a espasticidad o paraplejía espástica, pulgares en aducción y distensión de los ventrículos cerebrales de leve a moderada.","Spanish_Disease_Name__c":"síndrome masa","Spanish_GARD_Synonym__c":"síndrome de discapacidad intelectual-afasia-marcha arrastrando los pies-pulgares en aducción","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":"A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.","Curated_Disease_Description_Source__c":"MONDO:0010559","GARD_Synonym__c":"gareis-mason syndrome; hereditary spastic paraplegia 1; intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome; intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome; masa (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome; masa syndrome (mental retardation, adducted thumbs, shuffling gait, and aphasia); masa syndrome, x-linked recessive; mental retardation, adducted thumbs, shuffling gait, aphasia syndrome; spastic paraplegia 1, x-linked; spastic paraplegia, x-linked; x-linked complicated hereditary spastic paraplegia type 1; x-linked corpus callosum agenesis; x-linked spastic paraplegia 1","Name":"MASA syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.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":"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":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"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":"Neonatal","Provided_By__c":"ORPHA:2466"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0795953"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006986","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1484","Source__c":"Gene Review","Xref__c":"NBK1484"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129930","Source__c":"C0795953; MONDO:0010559","Xref__c":"C129930"},{"URL__c":"https://www.orpha.net/en/disease/detail/2466","Source__c":"C0795953; MONDO:0010559; ORPHA:2466","Xref__c":"ORPHA:2466"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060246","Source__c":"MONDO:0010559","Xref__c":"DOID:0060246"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716996008","Source__c":"MONDO:0010559","Xref__c":"716996008"},{"URL__c":"https://www.omim.org/entry/303350","Source__c":"C0795953; MONDO:0010559; ORPHA:2466","Xref__c":"OMIM:303350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795953","Source__c":"C0795953","Xref__c":"C0795953"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162894","Source__c":"C0795953","Xref__c":"MEDGEN:162894"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=838441009","Source__c":"C0795953","Xref__c":"838441009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010559","Source__c":"GARD:0006986","Xref__c":"MONDO:0010559"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"L1CAM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/l1cam","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Very frequent (80-99%)","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:2466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2466","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:2466","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001188","HPO_Synonym__c":"Clenched hand; Clenched hands; Fisted hand; Fisting; Hand clenching; Hands fisted; Hands tightly fisted; Thumb clasp","HPO_Name__c":"Hand clenching","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["gareis-mason syndrome"," hereditary spastic paraplegia 1"," intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome"," intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome"," masa (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome"," masa syndrome (mental retardation, adducted thumbs, shuffling gait, and aphasia)"," masa syndrome, x-linked recessive"," mental retardation, adducted thumbs, shuffling gait, aphasia syndrome"," spastic paraplegia 1, x-linked"," spastic paraplegia, x-linked"," x-linked complicated hereditary spastic paraplegia type 1"," x-linked corpus callosum agenesis"," x-linked spastic paraplegia 1"]}