MCID: CHR525
MIFTS: 31

Chromosome Xq26.3 Duplication Syndrome

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

Aliases & Classifications for Chromosome Xq26.3 Duplication Syndrome

MalaCards integrated aliases for Chromosome Xq26.3 Duplication Syndrome:

Name: Chromosome Xq26.3 Duplication Syndrome 57 25 29 6 73
X-Linked Acrogigantism 57 24 25
Chromosome Xq26 Microduplication Syndrome 57 25
X-Lag 25 59
Xlag 57 25
Familial Infantile Gigantism Due to Xq26 Microduplication 59
X-Linked Acrogigantism Due to Xq26 Microduplication 59
X-Lag (x-Linked Acrogigantism) Due to Dup(x)q(26) 59
Infantile Gigantism Due to Pituitary Hyperplasia 59
Familial Infantile Gigantism Due to Dup(x)q(26) 59
Hereditary Pituitary Hyperplasia 59
X-Linked Acrogigantism Syndrome 25
Hereditary Infantile Gigantism 59
X-Linked Acrogigantism; Xlag 57
Familial Infantile Gigantism 59
Lissencephaly, X-Linked, 2 73

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

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


Classifications:



Summaries for Chromosome Xq26.3 Duplication Syndrome

OMIM : 57 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, x-linked, 2, 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 : 25 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 12.2
2 lissencephaly, x-linked, 2 11.2
3 x-linked lissencephaly with abnormal genitalia 11.2
4 acromegaly 10.0
5 gigantism 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chromosome Xq26.3 Duplication Syndrome:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
5 type ii diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005978
6 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
7 left ventricular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001712
8 growth hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0000845
9 pituitary growth hormone cell adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0011760
10 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
11 tall stature 59 32 Very frequent (99-80%) HP:0000098
12 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
13 galactorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0100829
14 prolactin excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0000870
15 amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000141
16 long foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001833
17 diabetic ketoacidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001953
18 proportionate tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0011407
19 premature pubarche 59 32 hallmark (90%) Very frequent (99-80%) HP:0012411
20 increased serum insulin-like growth factor 1 59 32 hallmark (90%) Very frequent (99-80%) HP:0030269
21 sleep apnea 32 HP:0010535
22 acanthosis nigricans 32 HP:0000956
23 pituitary adenoma 32 HP:0002893
24 polyphagia 32 HP:0002591
25 ventricular hypertrophy 32 HP:0001714
26 snoring 32 HP:0025267

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 29 GPR101

Anatomical Context for Chromosome Xq26.3 Duplication Syndrome

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

41
Pituitary, Skin, Bone

Publications for Chromosome Xq26.3 Duplication Syndrome

Articles related to Chromosome Xq26.3 Duplication Syndrome:

# Title Authors Year
1
Gigantism: X-linked acrogigantism and GPR101 mutations. ( 27743704 )
2016
2
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. ( 27245663 )
2016
3
Childhood acromegaly due to X-linked acrogigantism: long term follow-up. ( 27631333 )
2016
4
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 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....