MCID: MNT191
MIFTS: 22

Mental Retardation, X-Linked, Syndromic 17

Categories: Neuronal diseases, Eye diseases, Rare diseases, Mental diseases, Genetic diseases, Fetal diseases, Cardiovascular diseases, Bone 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 73
Intellectual Disability-Alacrima-Achalasia Syndrome 12 59
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:

59
intellectual disability-alacrima-achalasia syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
mental retardation, x-linked, syndromic 17:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300858
Disease Ontology 12 DOID:0060803
Orphanet 59 ORPHA289483
MedGen 42 C3275460
UMLS 73 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 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, 35 family:

Mental Retardation, X-Linked, Syndromic 13 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

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 10.2

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
alacrima
anisocoria (unequal pupal size)

Neurologic Central Nervous System:
global developmental delay
delayed motor development
lack of speech development
mental retardation

Abdomen Gastrointestinal:
achalasia
swallowing difficulties

Endocrine Features:
normal adrenal function


Clinical features from OMIM:

300858

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 dysphagia 32 HP:0002015
3 global developmental delay 32 HP:0001263
4 absent speech 32 HP:0001344
5 achalasia 32 HP:0002571
6 motor delay 32 HP:0001270
7 alacrima 32 HP:0000522
8 anisocoria 32 HP:0009916

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:

41
Eye

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 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....