MCID: XLN210
MIFTS: 10

X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

MalaCards integrated aliases for X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome:

Name: X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-acromegaly-hyperactivity syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA85327

Summaries for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

MalaCards based summary : X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome Affiliated tissues include pons, and related phenotypes are dysarthria and macroorchidism

Related Diseases for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

Symptoms & Phenotypes for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

Human phenotypes related to X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 macroorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000053
3 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
4 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
5 growth hormone excess 58 31 frequent (33%) Frequent (79-30%) HP:0000845
6 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
7 long nose 58 31 frequent (33%) Frequent (79-30%) HP:0003189
8 abnormality of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0007361
9 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
10 decreased serum insulin-like growth factor 1 58 31 frequent (33%) Frequent (79-30%) HP:0030353
11 spinalarachnoid cyst 58 31 frequent (33%) Frequent (79-30%) HP:0009745
12 folate-dependent fragile site at xq28 58 Excluded (0%)

Drugs & Therapeutics for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome

Genetic Tests for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

Anatomical Context for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

MalaCards organs/tissues related to X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome:

40
Pons

Publications for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

Variations for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

Expression for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome.

Pathways for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

GO Terms for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

Sources for X-Linked Intellectual Disability-Acromegaly-Hyperactivity...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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