About: MASA syndrome

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MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome.

Attributes	Values
rdf:type	Thing Disease yago:WikicatX-linkedRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	متلازمة جاريس ميسون (ar) L1CAM-Syndrom (de) Syndrome L1 (fr) MASA syndrome (en)
rdfs:comment	متلازمة جاريس ميسون، أو متلازمة كراش، أو متلازمة الشلل النصفي التشنجي هي حالة عصبية وراثية نادرة منقولة على كروموسوم إكس بصورة متنحية. (ar) Das L1CAM-Syndrom oder L1-Syndrom ist eine sehr seltene x-chromosomal vererbliche Erkrankung mit einer Kombination von adduziertem Daumen, Spastik und unterschiedlichen Hirnveränderungen. Synonyme sind: CRASH-Syndrom (Akronym für Corpus-Callosum-Hypoplasie, (geistige) Retardierung, Adduzierte Daumen, Spastische Paraplegie und Hydrozephalus); Gareis-Mason-Syndrom (de) MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome. (en) Le syndrome L1 regroupe les manifestations liées à la mutation du gène L1CAM Il est caractérisé par l’association des traits suivants : * Hydrocéphalie ; * Retard mental ; * Tonicité augmentée des muscles des jambes (spasticité) ; * Pouce en adduction. Les manifestations cliniques de la mutation du gène L1CAM comprennent : * Hydrocéphalie liée à l'X ; * Syndrome M.A.S.A (Mental retardation, Aphasie, Spasticité, Adduction des pouces) ; * Paraplégie spastique familiale de type 1 ; * Agénésie du corps calleux lié à l’X. (fr)
foaf:name	MASA syndrome (en)
name	MASA syndrome (en)
foaf:depiction
dct:subject	Rare syndromes Syndromes affecting the nervous system Syndromes with intellectual disability X-linked recessive disorders
Wikipage page ID	869927 (xsd:integer)
Wikipage revision ID	1110250115 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutation Hydrocephalus L1 syndrome Corpus callosum Genetics Gene Genetic carrier Congenital clasped thumb Aphasia Rare syndromes Syndromes affecting the nervous system Syndromes with intellectual disability Hereditary spastic paraplegia X-linked recessive disorders X-linked recessive inheritance X chromosome Spasticity Mental retardation Neurology L1CAM Shuffling gait X-linked recessive
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/books/NBK1484/
sameAs	MASA syndrome MASA syndrome MASA syndrome MASA syndrome MASA syndrome MASA syndrome MASA syndrome MASA syndrome MASA syndrome MASA syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:RareDiseases dbt:X-linked_disorders
thumbnail	wiki-commons:Special:FilePath/X-linked_recessive_(carrier_mother).svg?width=300
ICD	G11.4 (en)
MeshID	536029.0 (nicaraguanCórdoba)
OMIM	303350 (xsd:integer)
Orphanet	2466 (xsd:integer)
caption	This condition is inherited in an X-linked recessive manner. (en)
field	Neurology
synonyms	Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (en)
has abstract	متلازمة جاريس ميسون، أو متلازمة كراش، أو متلازمة الشلل النصفي التشنجي هي حالة عصبية وراثية نادرة منقولة على كروموسوم إكس بصورة متنحية. (ar) Das L1CAM-Syndrom oder L1-Syndrom ist eine sehr seltene x-chromosomal vererbliche Erkrankung mit einer Kombination von adduziertem Daumen, Spastik und unterschiedlichen Hirnveränderungen. Synonyme sind: CRASH-Syndrom (Akronym für Corpus-Callosum-Hypoplasie, (geistige) Retardierung, Adduzierte Daumen, Spastische Paraplegie und Hydrozephalus); Gareis-Mason-Syndrom (de) MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome. (en) Le syndrome L1 regroupe les manifestations liées à la mutation du gène L1CAM Il est caractérisé par l’association des traits suivants : * Hydrocéphalie ; * Retard mental ; * Tonicité augmentée des muscles des jambes (spasticité) ; * Pouce en adduction. Les manifestations cliniques de la mutation du gène L1CAM comprennent : * Hydrocéphalie liée à l'X ; * Syndrome M.A.S.A (Mental retardation, Aphasie, Spasticité, Adduction des pouces) ; * Paraplégie spastique familiale de type 1 ; * Agénésie du corps calleux lié à l’X. Le syndrome L1 était autrefois appelé C.R.A.S.H syndrome (Corps calleux agénésie, Retard mental, Adduction des pouces, Spasticité et hydrocéphalie) Ce terme ne doit plus être utilisé. (fr)
GeneReviewsName	L1 Syndrome (en)
GeneReviewsNBK	NBK1484 (en)
geneReviewsId	NBK1484
geneReviewsName	L1 Syndrome (en)
gold:hypernym	dbr:X'
MeSH ID	C536029
prov:wasDerivedFrom	wikipedia-en:MASA_syndrome?oldid=1110250115&ns=0
page length (characters) of wiki page	9675 (xsd:nonNegativeInteger)

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