XLAG
MCID: CHR525
MIFTS: 32

Chromosome Xq26.3 Duplication Syndrome (XLAG)

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

Aliases & Classifications for Chromosome Xq26.3 Duplication Syndrome

MalaCards integrated aliases for Chromosome Xq26.3 Duplication Syndrome:

Name: Chromosome Xq26.3 Duplication Syndrome 58 26 30 6 74
X-Linked Acrogigantism 58 25 26
Chromosome Xq26 Microduplication Syndrome 58 26
X-Lag 26 60
Xlag 58 26
Familial Infantile Gigantism Due to Xq26 Microduplication 60
X-Linked Acrogigantism Due to Xq26 Microduplication 60
X-Lag (x-Linked Acrogigantism) Due to Dup(x)q(26) 60
Infantile Gigantism Due to Pituitary Hyperplasia 60
Familial Infantile Gigantism Due to Dup(x)q(26) 60
Hereditary Pituitary Hyperplasia 60
X-Linked Acrogigantism Syndrome 26
Hereditary Infantile Gigantism 60
X-Linked Acrogigantism; Xlag 58
Familial Infantile Gigantism 60
Lissencephaly, X-Linked, 2 74

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
x-linked dominant

Miscellaneous:
onset of overgrowth in the first year of life (in most cases)
onset of overgrowth in second to third month of life (in some cases)


HPO:

33
chromosome xq26.3 duplication syndrome:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Chromosome Xq26.3 Duplication Syndrome

OMIM : 58 X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; 139250) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015). (300942)

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

Genetics Home Reference : 26 X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.

GeneReviews:

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:

# Related Disease Score Top Affiliating Genes
1 x-linked acrogigantism due to a point mutation 12.4
2 lissencephaly 11.5
3 lissencephaly, x-linked, 2 11.4
4 x-linked lissencephaly with abnormal genitalia 11.4
5 acromegaly 10.4
6 lissencephaly, x-linked, 1 10.3
7 gigantism 10.2
8 epilepsy 10.0
9 hypogonadism 10.0

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

Human phenotypes related to Chromosome Xq26.3 Duplication Syndrome:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
3 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
4 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
5 type ii diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0005978
6 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
7 left ventricular hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001712
8 growth hormone excess 60 33 hallmark (90%) Very frequent (99-80%) HP:0000845
9 pituitary growth hormone cell adenoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0011760
10 large hands 60 33 hallmark (90%) Very frequent (99-80%) HP:0001176
11 accelerated skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005616
12 prolactin excess 60 33 hallmark (90%) Very frequent (99-80%) HP:0000870
13 amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000141
14 long foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001833
15 diabetic ketoacidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001953
16 proportionate tall stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0011407
17 premature pubarche 60 33 hallmark (90%) Very frequent (99-80%) HP:0012411
18 increased serum insulin-like growth factor 1 60 33 hallmark (90%) Very frequent (99-80%) HP:0030269
19 galactorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0100829
20 tall stature 60 33 Very frequent (99-80%) HP:0000098
21 sleep apnea 33 HP:0010535
22 acanthosis nigricans 33 HP:0000956
23 pituitary adenoma 33 HP:0002893
24 polyphagia 33 HP:0002591
25 snoring 33 HP:0025267
26 ventricular hypertrophy 33 HP:0001714
27 body odor 33 HP:0500001

Symptoms via clinical synopsis from OMIM:

58
Respiratory Nasopharynx:
sleep apnea
snoring

Neurologic Central Nervous System:
pituitary adenoma

Skeletal Hands:
large hands

Skeletal Feet:
large feet

Abdomen Gastrointestinal:
increased appetite

Growth Height:
tall stature (+3.4 sd)
increased height velocity (+6.1 sd)

Cardiovascular Heart:
ventricular hypertrophy, mild (noted in 1 patient)

Skin Nails Hair Skin:
acanthosis nigricans
skin thickening

Endocrine Features:
pituitary adenoma
increased sweating at early age
prominent body odor
elevated growth hormone (gh) levels
elevated igf1 levels
more
Skeletal:
advanced bone age

Head And Neck Face:
acromegaly
coarse facies

Growth Weight:
increased weight

Head And Neck Teeth:
widening of interdental spaces

Clinical features from OMIM:

300942

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:

# Genetic test Affiliating Genes
1 Chromosome Xq26.3 Duplication Syndrome 30 GPR101

Anatomical Context for Chromosome Xq26.3 Duplication Syndrome

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

42
Pituitary, Skin, Bone

Publications for Chromosome Xq26.3 Duplication Syndrome

Articles related to Chromosome Xq26.3 Duplication Syndrome:

(show all 11)
# Title Authors Year
1
Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly. ( 30711029 )
2019
2
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. ( 30525125 )
2018
3
Paleogenetic study of ancient DNA suggestive of X-linked acrogigantism. ( 28049632 )
2017
4
Gigantism: X-linked acrogigantism and GPR101 mutations. ( 27743704 )
2016
5
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. ( 27245663 )
2016
6
Childhood acromegaly due to X-linked acrogigantism: long term follow-up. ( 27631333 )
2016
7
Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. ( 26935837 )
2016
8
Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management. ( 26982009 )
2016
9
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. ( 25712922 )
2015
10
Genetics: X-linked acrogigantism--genetic characterization of a newly described paediatric growth disorder. ( 25534195 )
2015
11
X-Linked Acrogigantism ( 29389097 )
1993

Variations for Chromosome Xq26.3 Duplication Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPR101 GRCh37/hg19 Xq26.3(chrX: 135602028-136259908)x2 copy number gain Pathogenic GRCh37 Chromosome X, 135602028: 136259908
2 GPR101 NC_000023.10: g.135601430_136192229dup duplication Pathogenic GRCh37 Chromosome X, 135601430: 136192229
3 ARHGEF6; BRS3; CD40LG; GPR101; HTATSF1; RBMX; VGLL1 NC_000023.10: g.135549274_136126345dup duplication Likely pathogenic GRCh37 Chromosome X, 135549274: 136126345
4 ARHGEF6; CD40LG; GPR101; RBMX; VGLL1 NC_000023.10: g.135622314_136191699dup duplication Likely pathogenic GRCh37 Chromosome X, 135622314: 136191699
5 ARHGEF6; BRS3; CD40LG; GPR101; HTATSF1; RBMX; VGLL1 NC_000023.10: g.135533330_136123779dup duplication Likely pathogenic GRCh37 Chromosome X, 135533330: 136123779
6 ARHGEF6; CD40LG; GPR101; RBMX; VGLL1 NC_000023.10: g.135596446_136254970dup 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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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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