XLID50
MCID: INT397
MIFTS: 18

Intellectual Developmental Disorder, X-Linked 50 (XLID50)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, X-Linked 50

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked 50:

Name: Intellectual Developmental Disorder, X-Linked 50 57
Mental Retardation, X-Linked 50 57 13 6 70
Mental Retardation, X-Linked 50; Mrx50 57
Xlid50 57
Mrx50 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked

Miscellaneous:
one family with 4 affected males reported (last curated february 2021)
carrier females may be mildly affected


HPO:

31
intellectual developmental disorder, x-linked 50:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM® 57 300115
OMIM Phenotypic Series 57 PS309530
MedGen 41 C1848087
SNOMED-CT via HPO 68 263934009 86765009
UMLS 70 C1848087

Summaries for Intellectual Developmental Disorder, X-Linked 50

OMIM® : 57 A number sign (#) is used with this entry because of evidence that X-linked intellectual developmental disorder-50 (XLID50) is caused by hemizygous mutation in the SYN1 gene (313440) on chromosome Xp11. (300115) (Updated 05-Apr-2021)

MalaCards based summary : Intellectual Developmental Disorder, X-Linked 50, also known as mental retardation, x-linked 50, is related to non-syndromic x-linked intellectual disability 50 and raynaud-claes syndrome. An important gene associated with Intellectual Developmental Disorder, X-Linked 50 is SYN1 (Synapsin I). Related phenotype is intellectual disability, mild.

Related Diseases for Intellectual Developmental Disorder, X-Linked 50

Diseases in the Intellectual Developmental Disorder, X-Linked 108 family:

Intellectual Developmental Disorder, X-Linked 50

Diseases related to Intellectual Developmental Disorder, X-Linked 50 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 non-syndromic x-linked intellectual disability 50 11.0
2 raynaud-claes syndrome 9.9
3 non-syndromic x-linked intellectual disability 9.9

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked 50

Human phenotypes related to Intellectual Developmental Disorder, X-Linked 50:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 31 HP:0001256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
adult height 3rd-25th centile

Neurologic Central Nervous System:
impaired intellectual development, moderate to severe

Head And Neck Head:
occipitofrontal head circumference 75th-97th centile

Clinical features from OMIM®:

300115 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked 50

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, X-Linked 50

Genetic Tests for Intellectual Developmental Disorder, X-Linked 50

Anatomical Context for Intellectual Developmental Disorder, X-Linked 50

Publications for Intellectual Developmental Disorder, X-Linked 50

Articles related to Intellectual Developmental Disorder, X-Linked 50:

# Title Authors PMID Year
1
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. 57 6 61
28973667 2017
2
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). 6 61 57
9415477 1997
3
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 57 6
21441247 2011
4
How many X-linked genes for non-specific mental retardation (MRX) are there? 57
8826466 1996

Variations for Intellectual Developmental Disorder, X-Linked 50

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked 50:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYN1 NM_006950.3(SYN1):c.236C>G (p.Ser79Trp) SNV Pathogenic 997017 GRCh37: X:47478892-47478892
GRCh38: X:47619493-47619493
2 SYN1 NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) SNV Pathogenic 41890 rs200533370 GRCh37: X:47433684-47433684
GRCh38: X:47574285-47574285

Expression for Intellectual Developmental Disorder, X-Linked 50

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked 50.

Pathways for Intellectual Developmental Disorder, X-Linked 50

GO Terms for Intellectual Developmental Disorder, X-Linked 50

Sources for Intellectual Developmental Disorder, X-Linked 50

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....