MRXS17
MCID: MNT191
MIFTS: 22

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 58 12 30 13 74
Intellectual Disability-Alacrima-Achalasia Syndrome 12 60
Mental Retardation, X-Linked, with Alacrima and Achalasia 58
X-Linked Mental Retardation with Alacrima and Achalasia 12
Syndromic X-Linked Intellectual Disability 17 12
Mrxs17 58

Characteristics:

Orphanet epidemiological data:

60
intellectual disability-alacrima-achalasia syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
mental retardation, x-linked, syndromic 17:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060803
OMIM 58 300858
Orphanet 60 ORPHA289483
MedGen 43 C3275460
UMLS 74 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. An important gene associated with Mental Retardation, X-Linked, Syndromic 17 is MRXS17 (Mental Retardation, X-Linked, Syndromic 17). Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and dysphagia

Description from OMIM: 300858

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

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

Mental Retardation, X-Linked, Syndromic, Wu Type 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

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 dysphagia 33 HP:0002015
3 global developmental delay 33 HP:0001263
4 absent speech 33 HP:0001344
5 motor delay 33 HP:0001270
6 achalasia 33 HP:0002571
7 alacrima 33 HP:0000522
8 anisocoria 33 HP:0009916

Symptoms via clinical synopsis from OMIM:

58
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

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 30

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

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

42
Eye, Bone

Publications for Mental Retardation, X-Linked, Syndromic 17

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

# Title Authors Year
1
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? ( 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
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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