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 58 74
Mental Retardation, X-Linked Syndromic, Abidi Type 58 13
Mental Retardation, X-Linked, Syndromic, Abidi Type 58
X-Linked Intellectual Disability, Abidi Type 60
Mrxsab 58

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability, abidi type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

OMIM 58 300262
MESH via Orphanet 46 C535556
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1846056
Orphanet 60 ORPHA85273
MedGen 43 C1846056
SNOMED-CT via HPO 70 228156007 247578003 91138005
UMLS 74 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 pectus excavatum

Description from OMIM: 300262

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 11.7
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:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 Very frequent (99-80%) HP:0001249
2 pectus excavatum 60 Occasional (29-5%)
3 scoliosis 60 Occasional (29-5%)
4 hearing impairment 60 Frequent (79-30%)
5 microcephaly 60 Very frequent (99-80%)
6 short stature 60 Very frequent (99-80%)
7 cleft palate 60 Occasional (29-5%)
8 protruding ear 60 Occasional (29-5%)
9 prominent nasal bridge 60 Occasional (29-5%)
10 non-midline cleft lip 60 Occasional (29-5%)
11 decreased testicular size 60 Very frequent (99-80%)
12 sloping forehead 60 Very frequent (99-80%)

Clinical features from OMIM:

300262

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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