MCID: CHR588
MIFTS: 27

Chromosome 8q22.1 Duplication Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chromosome 8q22.1 Duplication Syndrome

MalaCards integrated aliases for Chromosome 8q22.1 Duplication Syndrome:

Name: Chromosome 8q22.1 Duplication Syndrome 56
Leri Pleonosteosis 56 74 52 58 6 71
Leri Pleonosteosis Chromosome Duplication Syndrome 56
Leri Type Pleonosteosis 52
Pleonosteosis Leri Type 52
Leri's Pleonosteosis 52

Characteristics:

Orphanet epidemiological data:

58
leri pleonosteosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
phenotypic variability
progressive disorder
shuffling, short-stepped gait

Inheritance:
autosomal dominant


HPO:

31
chromosome 8q22.1 duplication syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 8q22.1 Duplication Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2900 Definition Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature , and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner. Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 8q22.1 Duplication Syndrome, also known as leri pleonosteosis, is related to acromicric dysplasia and fibrodysplasia ossificans progressiva, and has symptoms including joint stiffness An important gene associated with Chromosome 8q22.1 Duplication Syndrome is DUP8Q22.1 (Leri Pleonosteosis Chromosome Duplication Syndrome). Affiliated tissues include skin, bone and spinal cord, and related phenotypes are abnormality of epiphysis morphology and gait disturbance

OMIM : 56 Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS; 139210), and geleophysic dysplasia (GPHYSD1; 231050) (summary by Banka et al., 2015). (151200)

Wikipedia : 74 Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri... more...

Related Diseases for Chromosome 8q22.1 Duplication Syndrome

Diseases related to Chromosome 8q22.1 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acromicric dysplasia 10.4
2 fibrodysplasia ossificans progressiva 10.4
3 myhre syndrome 10.4
4 scleroderma, familial progressive 10.4
5 stiff skin syndrome 10.4
6 osteopoikilosis 10.4
7 rheumatic disease 10.4
8 mammary paget's disease 10.4
9 systemic scleroderma 10.4
10 paget's disease of bone 10.4

Graphical network of the top 20 diseases related to Chromosome 8q22.1 Duplication Syndrome:



Diseases related to Chromosome 8q22.1 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 8q22.1 Duplication Syndrome

Human phenotypes related to Chromosome 8q22.1 Duplication Syndrome:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
5 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
8 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
9 genu recurvatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002816
10 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
11 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
12 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
13 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
14 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
15 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
16 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
17 cubitus valgus 58 31 occasional (7.5%) Frequent (79-30%) HP:0002967
18 blepharophimosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0000581
19 abnormally straight spine 58 31 frequent (33%) Frequent (79-30%) HP:0100795
20 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
21 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
22 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042
23 microcornea 31 occasional (7.5%) HP:0000482
24 short stature 31 HP:0004322
25 hallux valgus 31 HP:0001822
26 short metacarpal 31 HP:0010049
27 short palm 31 HP:0004279
28 limitation of joint mobility 31 HP:0001376
29 pes cavus 31 HP:0001761
30 abnormality of the vertebral column 31 HP:0000925
31 short thumb 31 HP:0009778
32 abnormality of finger 58 Very frequent (99-80%)
33 short phalanx of finger 31 HP:0009803
34 abnormality of the carpal bones 31 HP:0001191
35 laryngeal stenosis 31 HP:0001602
36 short metatarsal 31 HP:0010743
37 enlarged interphalangeal joints 31 HP:0006247
38 short stepped shuffling gait 31 HP:0007311
39 broad metacarpals 31 HP:0001230

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skeletal Hands:
enlarged interphalangeal joints
broad metacarpals
short metacarpals
short phalanges
short hands
more
Skeletal:
stiff joints
decreased joint mobility
chronic joint pain

Respiratory Larynx:
laryngeal stenosis (in some patients)

Skin Nails Hair Skin:
thickening of skin on the plantar and palmar surfaces

Muscle Soft Tissue:
thick palmar fascia
thickening of fascia of forearm

Skeletal Feet:
hallux valgus
pes cavus
short metatarsals
flexion contractures of toes

Head And Neck Eyes:
microcornea (in some patients)
blepharophimosis (in some patients)
upslanting palpebral fissures (in some patients)
narrowed palpebral fissures

Skeletal Limbs:
genu recurvatum (in some patients)
cubitus valgus (in some patients)

Skeletal Spine:
enlarged posterior neural arches of cervical vertebrae
bony overgrowth of the posterior arches
bony overgrowth of the vertebral bodies

Skin Nails Hair Skin Histology:
hyaline changes
dense islands of connective tissue
fibrosis seen on biopsy

Clinical features from OMIM:

151200

UMLS symptoms related to Chromosome 8q22.1 Duplication Syndrome:


joint stiffness

Drugs & Therapeutics for Chromosome 8q22.1 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 8q22.1 Duplication Syndrome

Genetic Tests for Chromosome 8q22.1 Duplication Syndrome

Anatomical Context for Chromosome 8q22.1 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 8q22.1 Duplication Syndrome:

40
Skin, Bone, Spinal Cord

Publications for Chromosome 8q22.1 Duplication Syndrome

Articles related to Chromosome 8q22.1 Duplication Syndrome:

# Title Authors PMID Year
1
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. 56
24442880 2015
2
Léri's pleonosteosis. 56
6794698 1981
3
Léri's pleonosteosis. 56
6786408 1981
4
Léri's pleonosteosis. 56
6791240 1980
5
Léri's pleonosteosis; a study of a family with a review of the literature. 56
13641290 1959
6
[Leri pleonosteosis syndrome]. 61
11529045 2001

Variations for Chromosome 8q22.1 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 8q22.1 Duplication Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CPQ , GDF6 , MTERF3 , PTDSS1 , SDC2 , UQCRB GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3copy number gain Pathogenic 666435 8:97154645-98155535

Expression for Chromosome 8q22.1 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 8q22.1 Duplication Syndrome.

Pathways for Chromosome 8q22.1 Duplication Syndrome

GO Terms for Chromosome 8q22.1 Duplication Syndrome

Sources for Chromosome 8q22.1 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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