MRXS17
MCID: MNT191
MIFTS: 21

Mental Retardation, X-Linked, Syndromic 17 (MRXS17)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic 17

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic 17:

Name: Mental Retardation, X-Linked, Syndromic 17 57 12 29 13 70
Intellectual Disability-Alacrima-Achalasia Syndrome 12 58
Mental Retardation, X-Linked, with Alacrima and Achalasia 57
X-Linked Mental Retardation with Alacrima and Achalasia 12
Syndromic X-Linked Intellectual Disability 17 12
Mrxs17 57

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-alacrima-achalasia syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
one large consanguineous arab muslim family has been reported (as of september 2011)


HPO:

31
mental retardation, x-linked, syndromic 17:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060803
OMIM® 57 300858
OMIM Phenotypic Series 57 PS309510
Orphanet 58 ORPHA289483
MedGen 41 C3275460
UMLS 70 C3275460

Summaries for Mental Retardation, X-Linked, Syndromic 17

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has material basis in variation in the chromosome region Xp21.1-p11.23.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic 17, also known as intellectual disability-alacrima-achalasia syndrome, is related to achalasia and autonomic dysfunction. An important gene associated with Mental Retardation, X-Linked, Syndromic 17 is MRXS17 (Mental Retardation, X-Linked, Syndromic 17). Affiliated tissues include eye, and related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 300858 PS309510

Related Diseases for Mental Retardation, X-Linked, Syndromic 17

Diseases in the Mental Retardation, X-Linked, Syndromic 13 family:

Mental Retardation, X-Linked, Syndromic 9 Mental Retardation, X-Linked, Syndromic 17
Mental Retardation, X-Linked, Syndromic 32 Mental Retardation, X-Linked, Syndromic 33
Mental Retardation, X-Linked, Syndromic 34 Mental Retardation, X-Linked, Syndromic, 35

Diseases related to Mental Retardation, X-Linked, Syndromic 17 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 achalasia 10.4
2 autonomic dysfunction 10.4

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic 17

Human phenotypes related to Mental Retardation, X-Linked, Syndromic 17:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
4 delayed social development 58 31 hallmark (90%) Very frequent (99-80%) HP:0012434
5 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
6 alacrima 58 31 hallmark (90%) Very frequent (99-80%) HP:0000522
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 achalasia 58 31 frequent (33%) Frequent (79-30%) HP:0002571
9 anisocoria 58 31 frequent (33%) Frequent (79-30%) HP:0009916
10 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
11 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
12 deep philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002002
13 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
14 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
15 enuresis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000805
16 abnormality of the adrenal glands 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
delayed motor development
mental retardation
lack of speech development

Head And Neck Eyes:
alacrima
anisocoria (unequal pupal size)

Abdomen Gastrointestinal:
achalasia
swallowing difficulties

Endocrine Features:
normal adrenal function

Clinical features from OMIM®:

300858 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic 17

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic 17

Genetic Tests for Mental Retardation, X-Linked, Syndromic 17

Genetic tests related to Mental Retardation, X-Linked, Syndromic 17:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic 17 29

Anatomical Context for Mental Retardation, X-Linked, Syndromic 17

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic 17:

40
Eye

Publications for Mental Retardation, X-Linked, Syndromic 17

Articles related to Mental Retardation, X-Linked, Syndromic 17:

# Title Authors PMID Year
1
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? 57 61
21744492 2011

Variations for Mental Retardation, X-Linked, Syndromic 17

Expression for Mental Retardation, X-Linked, Syndromic 17

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic 17.

Pathways for Mental Retardation, X-Linked, Syndromic 17

GO Terms for Mental Retardation, X-Linked, Syndromic 17

Sources for Mental Retardation, X-Linked, Syndromic 17

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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