Disease Browser
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Parent Node: Genetic Diseases, X-Linked (D040181) | Parent Node: Intellectual Disability (D008607) | Parent Node: Spastic Paraplegia, Hereditary (D015419) | ..Starting node ..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
| Child Nodes:
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Sister Nodes: | ..Amyotrophic Dystonic Paraplegia (C566292)
| ..Arena syndrome (C537428)
| ..Ataxia, Spastic, 1, Autosomal Dominant (C566993)
| ..Ataxia, Spastic, 2, Autosomal Recessive (C566969)
| ..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
| ..Bahemuka Brown syndrome (C537797)
| ..Costeff optic atrophy syndrome (C535311)
| ..Fitzsimmons Walson Mellor syndrome (C537937)
| ..Fitzsimmons-Guilbert syndrome (C537938)
| ..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
| ..Hereditary spastic paralysis, infantile onset ascending (C537217)
| ..Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
| ..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
| ..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
| ..MAST Syndrome (C565409)
| ..Mental retardation spasticity ectrodactyly (C537446)
| ..Nakamura Osame syndrome (C538335)
| ..Roy Maroteaux Kremp syndrome (C535875)
| ..Spastic diplegia infantile type (C537481)
| ..Spastic paraplegia 10, autosomal dominant (C537482)
| ..Spastic paraplegia 11, autosomal recessive (C537483)
| ..Spastic paraplegia 12, autosomal dominant (C537484)
| ..Spastic paraplegia 13, autosomal dominant (C537485)
| ..Spastic paraplegia 14, autosomal recessive (C537486)
| ..Spastic paraplegia 15, autosomal recessive (C536642)
| ..Spastic paraplegia 16, X-linked (C536643)
| ..Spastic paraplegia 17 (C536644)
| ..Spastic Paraplegia 18, Autosomal Recessive (C567628)
| ..Spastic paraplegia 19, autosomal dominant (C536856)
| ..Spastic paraplegia 2, X-linked (C536857)
| ..Spastic paraplegia 20, autosomal recessive (C536858)
| ..Spastic paraplegia 23 (C536859)
| ..Spastic paraplegia 24 (C536860)
| ..Spastic paraplegia 25, autosomal recessive (C536861)
| ..Spastic paraplegia 26, autosomal recessive (C536862)
| ..Spastic Paraplegia 27, Autosomal Recessive (C563807)
| ..Spastic paraplegia 29, autosomal dominant (C536863)
| ..Spastic paraplegia 3, autosomal dominant (C536864)
| ..Spastic Paraplegia 31, Autosomal Dominant (C565210)
| ..Spastic Paraplegia 32, Autosomal Recessive (C566983)
| ..Spastic Paraplegia 33, Autosomal Dominant (C565214)
| ..Spastic Paraplegia 34, X-Linked (C567465)
| ..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
| ..Spastic Paraplegia 36, Autosomal Dominant (C567930)
| ..Spastic Paraplegia 37, Autosomal Dominant (C567931)
| ..Spastic Paraplegia 38, Autosomal Dominant (C567349)
| ..Spastic Paraplegia 39, Autosomal Recessive (C567433)
| ..Spastic paraplegia 4, autosomal dominant (C536865)
| ..SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
| ..Spastic Paraplegia 42, Autosomal Dominant (C567262)
| ..Spastic Paraplegia 44, Autosomal Recessive (C567707)
| ..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
| ..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
| ..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
| ..Spastic Paraplegia 5a, Autosomal Recessive (C564811)
| ..Spastic paraplegia 6, autosomal dominant (C536866)
| ..Spastic Paraplegia 7, Autosomal Recessive (C564599)
| ..Spastic paraplegia 8, autosomal dominant (C536867)
| ..Spastic paraplegia 9, autosomal dominant (C536868)
| ..Spastic Paraplegia And Evans Syndrome (C566652)
| ..Spastic paraplegia epilepsy mental retardation (C536869)
| ..Spastic paraplegia neuropathy poikiloderma (C536870)
| ..Spastic Paraplegia Type 11 (C580453)
| ..Spastic Paraplegia Type 3a (C580455)
| ..Spastic Paraplegia Type 4 (C580456)
| ..Spastic paraplegia type 5A, recessive (C536871)
| ..Spastic paraplegia type 5B, recessive (C536872)
| ..Spastic Paraplegia Type 7 (C580457)
| ..Spastic Paraplegia Type 8 (C580458)
| ..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
| ..Spastic paraplegia with Kallmann syndrome (C536873)
| ..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
| ..Spastic paraplegia with precocious puberty (C536874)
| ..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
| ..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
| ..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
| ..Spastic Paraplegia-50, Autosomal Recessive (C567858)
| ..Volcke Soekarman syndrome (C537718)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 6808 |
Name: | MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome |
Definition: | |
Alternative IDs: | OMIM:303350 |
ParentIDs: | MESH:D008607|MESH:D015419|MESH:D040181 |
TreeNumbers: | C10.500.300.820/C536029 |C10.574.500.495.820/C536029 |C10.597.606.643/C536029 |C10.668.829.800.300.820/C536029 |C16.131.666.300.820/C536029 |C16.320.322/C536029 |C16.320.400.375.820/C536029 |C23.888.592.604.646/C536029 |F03.550.600/C536029 |
Synonyms: | Adducted thumb with mental retardation |Clasped thumb and mental retardation |Crash syndrome |Gareis-Mason syndrome |Genetic Diseases, X-Linkeds |L1 Syndrome |Masa Syndrome |Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA) |Mental Retardation, |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C536029
MeSH: C536029
OMIM: 303350;
Genes: L1CAM; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000425.4(L1CAM):c.3581C>T (p.Ser1194Leu) | 3897 | L1CAM | Pathogenic | 137852522 | RCV000010674; RCV000010675; | N | MedGen:C0265216,OMIM:307000,ORPHA:2182,SNOMED CT:71779008; MedGen:C0795953,OMIM:303350,ORPHA:2466 | X | 153128311 | 153128311 | NM_000425.4:c.3581C>T | NP_000416.1:p.Ser1194Leu | NC_000023.10:g.153128311G>A | OMIM Allelic Variant:308840.0009 | C0795953 303350 Spastic paraplegia 1; C0265216 307000 X-linked hydrocephalus syndrome | | | NM_000425.4(L1CAM):c.1792G>A (p.Asp598Asn) | 3897 | L1CAM | Pathogenic | 137852519 | RCV000010670; | N | MedGen:C0795953,OMIM:303350,ORPHA:2466 | X | 153133489 | 153133489 | NM_000425.4:c.1792G>A | NP_000416.1:p.Asp598Asn | NC_000023.10:g.153133489C>T | OMIM Allelic Variant:308840.0005 | C0795953 303350 Spastic paraplegia 1 | | | NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg) | 3897 | L1CAM | Pathogenic | 137852524 | RCV000010677; | N | MedGen:C0795953,OMIM:303350,ORPHA:2466 | X | 153135273 | 153135273 | NM_000425.4:c.1108G>A | NP_000416.1:p.Gly370Arg | NC_000023.10:g.153135273C>T | OMIM Allelic Variant:308840.0011 | C0795953 303350 Spastic paraplegia 1 | | | NM_000425.4(L1CAM):c.630C>A (p.His210Gln) | 3897 | L1CAM | Pathogenic | 28933683 | RCV000010669; | N | MedGen:C0795953,OMIM:303350,ORPHA:2466 | X | 153136309 | 153136309 | NM_000425.4:c.630C>A | NP_000416.1:p.His210Gln | NC_000023.10:g.153136309G>A,NC_000023.10:g.153136309G>T | OMIM Allelic Variant:308840.0004 | C0795953 303350 Spastic paraplegia 1 | | | NM_000425.4(L1CAM):c.536T>G (p.Ile179Ser) | 3897 | L1CAM | Pathogenic | 137852523 | RCV000010676; | N | MedGen:C0795953,OMIM:303350,ORPHA:2466 | X | 153136403 | 153136403 | NM_000425.4:c.536T>G | NP_000416.1:p.Ile179Ser | NC_000023.10:g.153136403A>C | OMIM Allelic Variant:308840.0010 | C0795953 303350 Spastic paraplegia 1 | | |
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