MCID: ABD008
MIFTS: 16

Abidi X-Linked Mental Retardation Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Mental 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 13 73
Mental Retardation, X-Linked, Syndromic, Abidi Type 57
Mental Retardation, X-Linked Syndromic, Abidi Type 57
X-Linked Intellectual Disability, Abidi Type 59
Mrxsab 57

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, abidi type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

OMIM 57 300262
Orphanet 59 ORPHA85273
MESH via Orphanet 45 C535556
UMLS via Orphanet 74 C1846056
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1846056
SNOMED-CT via HPO 69 228156007 247578003 91138005

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 cleft palate

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 11.5
2 x-linked intellectual disability, abidi type 11.3

Symptoms & Phenotypes for Abidi X-Linked Mental Retardation Syndrome

Clinical features from OMIM:

300262

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

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
2 cleft palate 59 Occasional (29-5%)
3 microcephaly 59 Very frequent (99-80%)
4 sloping forehead 59 Very frequent (99-80%)
5 hearing impairment 59 Frequent (79-30%)
6 protruding ear 59 Occasional (29-5%)
7 prominent nasal bridge 59 Occasional (29-5%)
8 pectus excavatum 59 Occasional (29-5%)
9 scoliosis 59 Occasional (29-5%)
10 short stature 59 Very frequent (99-80%)
11 decreased testicular size 59 Very frequent (99-80%)
12 non-midline cleft lip 59 Occasional (29-5%)

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....