PedAM

Pediatric Disease Annotations & Medicines


	masa syndrome

Disease ID	1645
Disease	masa syndrome
Definition	A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner.
Synonym	adducted thumb with mental retardation clasped thumb and mental retardation crash syndrome gareis-mason syndrome genetic diseases, x-linkeds hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) l1 syndrome masa (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome masa syndrome (disorder) mental retardation, aphasia, shuffling gait, adducted thumbs (masa) mental retardation, aphasia, shuffling gait, and adducted thumbs spastic paraplegia 1, x-linked spastic paraplegia, type 1 spg1 thumb, congenital clasped, with mental retardation x-linked complicated hereditary spastic paraplegia type 1 x-linked corpus callosum agenesis x-linked hydrocephalus with stenosis of the aqueduct of sylvius (hsas)
Orphanet	ORPHANET:275543 ORPHANET:2466
OMIM	OMIM:303350
DOID	DOID:0060246
UMLS	C0795953
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) L1CAM \| 3897 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:85) 57595 \| PDZD4 \| DISEASES 6820 \| SULT2B1 \| DISEASES 51324 \| SPG21 \| DISEASES 11154 \| AP4S1 \| DISEASES 282808 \| RAB40AL \| DISEASES 2717 \| GLA \| DISEASES 79152 \| FA2H \| DISEASES 10226 \| PLIN3 \| DISEASES 2822 \| GPLD1 \| DISEASES 8317 \| CDC7 \| DISEASES 28981 \| IFT81 \| DISEASES 6253 \| RTN2 \| DISEASES 821 \| CANX \| DISEASES 23503 \| ZFYVE26 \| DISEASES 91574 \| C12orf65 \| DISEASES 10752 \| CHL1 \| DISEASES 10717 \| AP4B1 \| DISEASES 4440 \| MSI1 \| DISEASES 80208 \| SPG11 \| DISEASES 57679 \| ALS2 \| DISEASES 54847 \| SIDT1 \| DISEASES 11059 \| WWP1 \| DISEASES 6687 \| SPG7 \| DISEASES 6567 \| SLC16A2 \| DISEASES 11160 \| ERLIN2 \| DISEASES 6768 \| ST14 \| DISEASES 22948 \| CCT5 \| DISEASES 288 \| ANK3 \| DISEASES 26353 \| HSPB8 \| DISEASES 9907 \| AP5Z1 \| DISEASES 5346 \| PLIN1 \| DISEASES 80150 \| ASRGL1 \| DISEASES 79058 \| ASPSCR1 \| DISEASES 5354 \| PLP1 \| DISEASES 9420 \| CYP7B1 \| DISEASES 8636 \| SSNA1 \| DISEASES 137492 \| VPS37A \| DISEASES 6683 \| SPAST \| DISEASES 547 \| KIF1A \| DISEASES 80821 \| DDHD1 \| DISEASES 9798 \| IST1 \| DISEASES 6900 \| CNTN2 \| DISEASES 1287 \| COL4A5 \| DISEASES 113612 \| CYP2U1 \| DISEASES 3916 \| LAMP1 \| DISEASES 8856 \| NR1I2 \| DISEASES 123606 \| NIPA1 \| DISEASES 554 \| AVPR2 \| DISEASES 89910 \| UBE3B \| DISEASES 27255 \| CNTN6 \| DISEASES 23114 \| NFASC \| DISEASES 23111 \| SPG20 \| DISEASES 1785 \| DNM2 \| DISEASES 118813 \| ZFYVE27 \| DISEASES 1822 \| ATN1 \| DISEASES 51062 \| ATL1 \| DISEASES 9197 \| SLC33A1 \| DISEASES 9179 \| AP4M1 \| DISEASES 2157 \| F8 \| DISEASES 4133 \| MAP2 \| DISEASES 26580 \| BSCL2 \| DISEASES 2705 \| GJB1 \| DISEASES 8556 \| CDC14A \| DISEASES 57165 \| GJC2 \| DISEASES 393 \| ARHGAP4 \| DISEASES 3897 \| L1CAM \| DISEASES 4534 \| MTM1 \| DISEASES 10555 \| AGPAT2 \| DISEASES 7454 \| WAS \| DISEASES 6311 \| ATXN2 \| DISEASES 10497 \| UNC13B \| DISEASES 64225 \| ATL2 \| DISEASES 4897 \| NRCAM \| DISEASES 7905 \| REEP5 \| DISEASES 26278 \| SACS \| DISEASES 1130 \| LYST \| DISEASES 23259 \| DDHD2 \| DISEASES 51699 \| VPS29 \| DISEASES 64221 \| ROBO3 \| DISEASES 51571 \| FAM49B \| DISEASES 3798 \| KIF5A \| DISEASES 65055 \| REEP1 \| DISEASES 283446 \| MYO1H \| DISEASES 91056 \| AP5B1 \| DISEASES 55384 \| MEG3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1645
Disease	masa syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:28) HP:0001258 \| Spastic paraplegia HP:0000256 \| Macrocrania HP:0001274 \| Agenesis of corpus callosum HP:0002119 \| Ventricular dilatation HP:0001258 \| Spastic paraplegia, lower limb HP:0004322 \| Stature below 3rd percentile HP:0002808 \| Gibbus deformity HP:0003307 \| Hyperlordosis HP:0100490 \| Camptodactyly of finger HP:0004374 \| Hemiplegia/hemiparesis HP:0004322 \| Short stature HP:0000750 \| Delayed speech and language development HP:0001274 \| Absent corpus callosum HP:0001249 \| Mental retardation HP:0000238 \| Nonsyndromal hydrocephalus HP:0001762 \| Talipes equinovarus HP:0001761 \| Pes cavus HP:0004209 \| Clinodactyly of the 5th finger HP:0000252 \| Small head circumference HP:0002362 \| Shuffling gait HP:0000486 \| Squint eyes HP:0002381 \| Aphasia HP:0001347 \| Hyperreflexia HP:0002119 \| Ventriculomegaly HP:0001181 \| Adducted thumbs HP:0001249 \| Intellectual disability HP:0001288 \| Gait disturbance HP:0001188 \| Hand clenching
Text Mined Phenotype	(Waiting for update.)

Disease ID	1645
Disease	masa syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852519	NA	3897	L1CAM	umls:C0795953	CLINVAR	NA	0.565428837	NA	L1CAM	X	153868034	C	T
rs137852522	NA	3897	L1CAM	umls:C0795953	CLINVAR	NA	0.565428837	NA	L1CAM	X	153862856	G	A
rs137852523	NA	3897	L1CAM	umls:C0795953	CLINVAR	NA	0.565428837	NA	L1CAM	X	153870948	A	C
rs137852524	NA	3897	L1CAM	umls:C0795953	CLINVAR	NA	0.565428837	NA	L1CAM	X	153869818	C	T
rs28933683	7920659	3897	L1CAM	umls:C0795953	UNIPROT	X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.	0.565428837	1994	L1CAM	X	153870854	G	T,C,A
rs28933683	NA	3897	L1CAM	umls:C0795953	CLINVAR	NA	0.565428837	NA	L1CAM	X	153870854	G	T,C,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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