MCID: CHR525
MIFTS: 26

Chromosome Xq26.3 Duplication Syndrome

Categories: Genetic diseases, Endocrine diseases, Fetal 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 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;

OMIM:

54
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 : 54
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-lag, is related to x-linked acrogigantism due to a point mutation and acromegaly, and has symptoms including coarse facial features, frontal bossing and hypertrophic cardiomyopathy. An important gene associated with Chromosome Xq26.3 Duplication Syndrome is GPR101 (G Protein-Coupled Receptor 101). Affiliated tissues include pituitary, bone and skin.

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 acromegaly 10.0
3 gigantism 10.0
4 pituitary adenoma, growth hormone-secreting 2 9.5 CXDUPQ26.3 GPR101

Symptoms & Phenotypes for Chromosome Xq26.3 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
coarse facies
acromegaly

Skeletal:
advanced bone age

Endocrine Features:
elevated prolactin levels
pituitary adenoma
increased sweating at early age
prominent body odor
elevated growth hormone (gh) levels
more
Skeletal- Feet:
large feet

Neurologic- Central Nervous System:
pituitary adenoma

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

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

Respiratory- Nasopharynx:
snoring
sleep apnea

Skin Nails & Hair- Skin:
acanthosis nigricans
skin thickening

Skeletal- Hands:
large hands

Growth- Weight:
increased weight

Abdomen- Gastroin testinal:
increased appetite

Head And Neck- Teeth:
widening of interdental spaces


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 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
2 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 hypertrophic cardiomyopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001639
4 left ventricular hypertrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001712
5 amenorrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000141
6 premature pubarche 56 32 hallmark (90%) Very frequent (99-80%) HP:0012411
7 tall stature 56 32 Very frequent (99-80%) HP:0000098
8 hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000975
9 large hands 56 32 hallmark (90%) Very frequent (99-80%) HP:0001176
10 type ii diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0005978
11 diabetic ketoacidosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001953
12 galactorrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0100829
13 mandibular prognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000303
14 growth hormone excess 56 32 hallmark (90%) Very frequent (99-80%) HP:0000845
15 pituitary growth hormone cell adenoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0011760
16 accelerated skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0005616
17 prolactin excess 56 32 hallmark (90%) Very frequent (99-80%) HP:0000870
18 long foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001833
19 proportionate tall stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0011407
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 hallmark (90%) 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, Bone, 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 GRCh37/hg19 Xq26.3(chrX: 135602028-136259908)x2 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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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43 MESH via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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