MRXSAB
MCID: ABD008
MIFTS: 16

Abidi X-Linked Mental Retardation Syndrome (MRXSAB)

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Abidi X-Linked Mental Retardation Syndrome

MalaCards integrated aliases for Abidi X-Linked Mental Retardation Syndrome:

Name: Abidi X-Linked Mental Retardation Syndrome 57 70
Mental Retardation, X-Linked Syndromic, Abidi Type 57 13
Mental Retardation, X-Linked, Syndromic, Abidi Type 57
X-Linked Intellectual Disability, Abidi Type 58
Mrxsab 57

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, abidi type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 300262
OMIM Phenotypic Series 57 PS309510
MESH via Orphanet 45 C535556
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1846056
Orphanet 58 ORPHA85273
MedGen 41 C1846056
SNOMED-CT via HPO 68 228156007 247578003 91138005
UMLS 70 C1846056

Summaries for Abidi X-Linked Mental Retardation Syndrome

MalaCards based summary : Abidi X-Linked Mental Retardation Syndrome, also known as mental retardation, x-linked syndromic, abidi type, is related to syndromic x-linked intellectual disability abidi type and x-linked intellectual disability, abidi type. An important gene associated with Abidi X-Linked Mental Retardation Syndrome is MRXSAB (Abidi X-Linked Mental Retardation Syndrome). Related phenotypes are intellectual disability and scoliosis

More information from OMIM: 300262 PS309510

Related Diseases for Abidi X-Linked Mental Retardation Syndrome

Diseases related to Abidi X-Linked Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability abidi type 11.6
2 x-linked intellectual disability, abidi type 11.5

Symptoms & Phenotypes for Abidi X-Linked Mental Retardation Syndrome

Human phenotypes related to Abidi X-Linked Mental Retardation Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
2 scoliosis 58 Occasional (29-5%)
3 hearing impairment 58 Frequent (79-30%)
4 microcephaly 58 Very frequent (99-80%)
5 short stature 58 Very frequent (99-80%)
6 cleft palate 58 Occasional (29-5%)
7 pectus excavatum 58 Occasional (29-5%)
8 protruding ear 58 Occasional (29-5%)
9 prominent nasal bridge 58 Occasional (29-5%)
10 decreased testicular size 58 Very frequent (99-80%)
11 sloping forehead 58 Very frequent (99-80%)
12 non-midline cleft lip 58 Occasional (29-5%)

Clinical features from OMIM®:

300262 (Updated 05-Apr-2021)

Drugs & Therapeutics for Abidi X-Linked Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Abidi X-Linked Mental Retardation Syndrome

Genetic Tests for Abidi X-Linked Mental Retardation Syndrome

Anatomical Context for Abidi X-Linked Mental Retardation Syndrome

Publications for Abidi X-Linked Mental Retardation Syndrome

Articles related to Abidi X-Linked Mental Retardation Syndrome:

# Title Authors PMID Year
1
X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21. 57
10398233 1999

Variations for Abidi X-Linked Mental Retardation Syndrome

Expression for Abidi X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Abidi X-Linked Mental Retardation Syndrome.

Pathways for Abidi X-Linked Mental Retardation Syndrome

GO Terms for Abidi X-Linked Mental Retardation Syndrome

Sources for Abidi X-Linked Mental Retardation Syndrome

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
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