MCID: CHR507
MIFTS: 15

Chromosome Xq27.3-Q28 Duplication Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Chromosome Xq27.3-Q28 Duplication Syndrome

MalaCards integrated aliases for Chromosome Xq27.3-Q28 Duplication Syndrome:

Name: Chromosome Xq27.3-Q28 Duplication Syndrome 58 30 13 74

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
one french family has been reported (as of march 2012)
female carriers may have short stature and premature ovarian failure


HPO:

33
chromosome xq27.3-q28 duplication syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Chromosome Xq27.3-Q28 Duplication Syndrome

OMIM : 58 Chromosome Xq27.3-q28 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Female carriers may have short stature and premature ovarian failure (summary by Rio et al., 2010). (300869)

MalaCards based summary : Chromosome Xq27.3-Q28 Duplication Syndrome An important gene associated with Chromosome Xq27.3-Q28 Duplication Syndrome is DUPXQ27.3Q28 (Chromosome Xq27.3-Q28 Duplication Syndrome). Affiliated tissues include testes and eye, and related phenotypes are short stature and short foot

Related Diseases for Chromosome Xq27.3-Q28 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xq27.3-Q28 Duplication Syndrome

Human phenotypes related to Chromosome Xq27.3-Q28 Duplication Syndrome:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 short stature 33 very rare (1%) HP:0004322
2 short foot 33 very rare (1%) HP:0001773
3 cryptorchidism 33 very rare (1%) HP:0000028
4 increased circulating gonadotropin level 33 very rare (1%) HP:0000837
5 intrauterine growth retardation 33 very rare (1%) HP:0001511
6 specific learning disability 33 very rare (1%) HP:0001328
7 deeply set eye 33 very rare (1%) HP:0000490
8 decreased testicular size 33 very rare (1%) HP:0008734
9 decreased serum testosterone level 33 very rare (1%) HP:0040171
10 small hand 33 very rare (1%) HP:0200055
11 bulbous nose 33 very rare (1%) HP:0000414
12 gynecomastia 33 very rare (1%) HP:0000771
13 thin vermilion border 33 very rare (1%) HP:0000233
14 sparse body hair 33 very rare (1%) HP:0002231
15 global developmental delay 33 HP:0001263
16 intellectual disability, mild 33 HP:0001256
17 hypogonadism 33 HP:0000135
18 small for gestational age 33 HP:0001518
19 abdominal obesity 33 HP:0012743

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Chest Breasts:
gynecomastia

Growth Weight:
abdominal obesity

Neurologic Central Nervous System:
mental retardation, mild
delayed psychomotor development
learning difficulties
normal speech

Voice:
high-pitched voice

Skeletal Hands:
small hands

Head And Neck Mouth:
thin lips

Endocrine Features:
testicular failure
hypogonadism, primary
premature ovarian failure in female carriers

Genitourinary External Genitalia Male:
cryptorchidism
small testes

Skin Nails Hair Hair:
sparse body hair

Abdomen External Features:
abdominal obesity

Head And Neck Eyes:
deep-set eyes

Head And Neck Nose:
bulbous nasal tip

Growth Other:
low birth weight
intrauterine growth retardation (iugr)

Skeletal Feet:
small feet

Laboratory Abnormalities:
increased gonadotropins
low testosterone

Clinical features from OMIM:

300869

Drugs & Therapeutics for Chromosome Xq27.3-Q28 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xq27.3-Q28 Duplication Syndrome

Genetic Tests for Chromosome Xq27.3-Q28 Duplication Syndrome

Genetic tests related to Chromosome Xq27.3-Q28 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome Xq27.3-Q28 Duplication Syndrome 30

Anatomical Context for Chromosome Xq27.3-Q28 Duplication Syndrome

MalaCards organs/tissues related to Chromosome Xq27.3-Q28 Duplication Syndrome:

42
Testes, Eye

Publications for Chromosome Xq27.3-Q28 Duplication Syndrome

Variations for Chromosome Xq27.3-Q28 Duplication Syndrome

Expression for Chromosome Xq27.3-Q28 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome Xq27.3-Q28 Duplication Syndrome.

Pathways for Chromosome Xq27.3-Q28 Duplication Syndrome

GO Terms for Chromosome Xq27.3-Q28 Duplication Syndrome

Sources for Chromosome Xq27.3-Q28 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
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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