MCID: CHR588
MIFTS: 28

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 58
Leri Pleonosteosis 58 77 54 60 74
Leri Pleonosteosis Chromosome Duplication Syndrome 58
Leri Type Pleonosteosis 54
Pleonosteosis Leri Type 54
Leri's Pleonosteosis 54

Characteristics:

Orphanet epidemiological data:

60
leri pleonosteosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
chromosome 8q22.1 duplication syndrome:
Onset and clinical course phenotypic variability progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 8q22.1 Duplication Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2900Disease definitionLeri 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 fibrodysplasia ossificans progressiva and scleroderma, familial progressive, 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, spinal cord and bone, and related phenotypes are abnormality of epiphysis morphology and gait disturbance

OMIM : 58 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 : 77 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 fibrodysplasia ossificans progressiva 10.3
2 scleroderma, familial progressive 10.3
3 osteopoikilosis 10.3
4 rheumatic disease 10.3
5 paget's disease of bone 10.3

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:

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
3 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
4 broad thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0011304
5 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
6 lack of skin elasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0100679
7 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
8 genu recurvatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002816
9 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
10 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
11 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
12 thickened skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001072
13 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
14 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
15 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
16 subcutaneous nodule 60 33 frequent (33%) Frequent (79-30%) HP:0001482
17 cubitus valgus 60 33 occasional (7.5%) Frequent (79-30%) HP:0002967
18 blepharophimosis 60 33 occasional (7.5%) Frequent (79-30%) HP:0000581
19 abnormally straight spine 60 33 frequent (33%) Frequent (79-30%) HP:0100795
20 short palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0012745
21 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
22 elbow dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0003042
23 microcornea 33 occasional (7.5%) HP:0000482
24 short stature 33 HP:0004322
25 short palm 33 HP:0004279
26 limitation of joint mobility 33 HP:0001376
27 pes cavus 33 HP:0001761
28 hallux valgus 33 HP:0001822
29 abnormality of finger 60 Very frequent (99-80%)
30 short metacarpal 33 HP:0010049
31 abnormality of the vertebral column 33 HP:0000925
32 short phalanx of finger 33 HP:0009803
33 abnormality of the carpal bones 33 HP:0001191
34 laryngeal stenosis 33 HP:0001602
35 short metatarsal 33 HP:0010743
36 short thumb 33 HP:0009778
37 enlarged interphalangeal joints 33 HP:0006247
38 short stepped shuffling gait 33 HP:0007311
39 broad metacarpals 33 HP:0001230

Symptoms via clinical synopsis from OMIM:

58
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:
pes cavus
hallux valgus
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:

42
Skin, Spinal Cord, Bone

Publications for Chromosome 8q22.1 Duplication Syndrome

Articles related to Chromosome 8q22.1 Duplication Syndrome:

# Title Authors 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. ( 24442880 )
2015
2
Heritable disorders of connective tissue. VIII. Concluding comments. Introduction; fibrodysplasia ossificans progressiva; osteopoikilosis; Leri's pleonosteosis; Paget's disease of bone; other possible hereditary and generalized disorders of connective tissue; the future in the study of heritable disorders of connective tissue; general summary and conclusions. ( 13306757 )
1956

Variations for Chromosome 8q22.1 Duplication Syndrome

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
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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