X-LAG
MCID: CHR525
MIFTS: 23

Chromosome Xq26.3 Duplication Syndrome (X-LAG) malady

Categories: Genetic diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome Xq26.3 Duplication Syndrome

Aliases & Descriptions for Chromosome Xq26.3 Duplication Syndrome:

Name: Chromosome Xq26.3 Duplication Syndrome 54 29 69
X-Lag 24 56
Familial Infantile Gigantism Due to Xq26 Microduplication 56
X-Linked Acrogigantism Due to Xq26 Microduplication 56
X-Lag (x-Linked Acrogigantism) Due to Dup(x)q(26) 56
Infantile Gigantism Due to Pituitary Hyperplasia 56
Familial Infantile Gigantism Due to Dup(x)q(26) 56
Hereditary Pituitary Hyperplasia 56
Hereditary Infantile Gigantism 56
Familial Infantile Gigantism 56
X-Linked Acrogigantism 24

Characteristics:

Orphanet epidemiological data:

56
familial infantile gigantism
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
x-linked acrogigantism due to xq26 microduplication
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

HPO:

32
chromosome xq26.3 duplication syndrome:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 300942
ICD10 via Orphanet 34 E22.0

Summaries for Chromosome Xq26.3 Duplication Syndrome

MalaCards based summary : Chromosome Xq26.3 Duplication Syndrome, also known as x-lag, is related to x-linked acrogigantism due to a point mutation and lissencephaly, x-linked 2, and has symptoms including frontal bossing, hyperhidrosis and coarse facial features. An important gene associated with Chromosome Xq26.3 Duplication Syndrome is GPR101 (G Protein-Coupled Receptor 101). Affiliated tissues include pituitary and skin.

Description from OMIM: 300942

Related Diseases for Chromosome Xq26.3 Duplication Syndrome

Diseases related to Chromosome Xq26.3 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 x-linked acrogigantism due to a point mutation 12.1
2 lissencephaly, x-linked 2 11.1
3 x-linked lissencephaly with abnormal genitalia 11.1
4 acromegaly 10.0
5 gigantism 10.0
6 pituitary adenoma, growth hormone-secreting 2 9.8 CXDUPQ26.3 GPR101

Graphical network of the top 20 diseases related to Chromosome Xq26.3 Duplication Syndrome:



Diseases related to Chromosome Xq26.3 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xq26.3 Duplication Syndrome

Symptoms by clinical synopsis from OMIM:

300942

Clinical features from OMIM:

300942

Human phenotypes related to Chromosome Xq26.3 Duplication Syndrome:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
2 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
3 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
4 mandibular prognathia 56 32 Very frequent (99-80%) HP:0000303
5 type ii diabetes mellitus 56 32 Very frequent (99-80%) HP:0005978
6 hypertrophic cardiomyopathy 56 32 Very frequent (99-80%) HP:0001639
7 left ventricular hypertrophy 56 32 Very frequent (99-80%) HP:0001712
8 growth hormone excess 56 32 Very frequent (99-80%) HP:0000845
9 pituitary growth hormone cell adenoma 56 32 Very frequent (99-80%) HP:0011760
10 large hands 56 32 Very frequent (99-80%) HP:0001176
11 tall stature 56 32 Very frequent (99-80%) HP:0000098
12 accelerated skeletal maturation 56 32 Very frequent (99-80%) HP:0005616
13 galactorrhea 56 32 Occasional (29-5%) HP:0100829
14 prolactin excess 56 32 Very frequent (99-80%) HP:0000870
15 amenorrhea 56 32 Very frequent (99-80%) HP:0000141
16 long foot 56 32 Very frequent (99-80%) HP:0001833
17 diabetic ketoacidosis 56 32 Very frequent (99-80%) HP:0001953
18 proportionate tall stature 56 32 Very frequent (99-80%) HP:0011407
19 premature pubarche 56 32 Very frequent (99-80%) HP:0012411
20 pituitary adenoma 32 HP:0002893
21 increased serum insulin-like growth factor 1 56 Very frequent (99-80%)
22 increased serum insulin-like growth factor 1 {comment="hpo 32 HP:0030269

UMLS symptoms related to Chromosome Xq26.3 Duplication Syndrome:


snoring, thick skin

Drugs & Therapeutics for Chromosome Xq26.3 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xq26.3 Duplication Syndrome

Genetic Tests for Chromosome Xq26.3 Duplication Syndrome

Genetic tests related to Chromosome Xq26.3 Duplication Syndrome:

id Genetic test Affiliating Genes
1 Chromosome Xq26.3 Duplication Syndrome 29
2 X-Linked Acrogigantism 24 GPR101

Anatomical Context for Chromosome Xq26.3 Duplication Syndrome

MalaCards organs/tissues related to Chromosome Xq26.3 Duplication Syndrome:

39
Pituitary, Skin

Publications for Chromosome Xq26.3 Duplication Syndrome

Variations for Chromosome Xq26.3 Duplication Syndrome

ClinVar genetic disease variations for Chromosome Xq26.3 Duplication Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GPR101 NC_000023.10: g.135602028_136259908dup657881 copy number gain Pathogenic GRCh37 Chromosome X, 135602028: 136259908
2 GPR101 NC_000023.10: g.135601430_136192229dup590800 duplication Pathogenic GRCh37 Chromosome X, 135601430: 136192229
3 ARHGEF6; BRS3; CD40LG; GPR101; HTATSF1; RBMX; VGLL1 NC_000023.10: g.135549274_136126345dup577072 duplication Likely pathogenic GRCh37 Chromosome X, 135549274: 136126345
4 ARHGEF6; CD40LG; GPR101; RBMX; VGLL1 NC_000023.10: g.135622314_136191699dup569386 duplication Likely pathogenic GRCh37 Chromosome X, 135622314: 136191699
5 ARHGEF6; BRS3; CD40LG; GPR101; HTATSF1; RBMX; VGLL1 NC_000023.10: g.135533330_136123779dup590450 duplication Likely pathogenic GRCh37 Chromosome X, 135533330: 136123779
6 ARHGEF6; CD40LG; GPR101; RBMX; VGLL1 NC_000023.10: g.135596446_136254970dup658525 duplication Likely pathogenic GRCh37 Chromosome X, 135596446: 136254970

Expression for Chromosome Xq26.3 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome Xq26.3 Duplication Syndrome.

Pathways for Chromosome Xq26.3 Duplication Syndrome

GO Terms for Chromosome Xq26.3 Duplication Syndrome

Sources for Chromosome Xq26.3 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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