MCID: PRP090
MIFTS: 23

Peripheral Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Peripheral Dysostosis

MalaCards integrated aliases for Peripheral Dysostosis:

Name: Peripheral Dysostosis 58 54 60
Dysostosis Peripheral 54
Acrodysostosis 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
peripheral dysostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 170700
ICD10 via Orphanet 35 Q74.8
Orphanet 60 ORPHA1795
MedGen 43 C0220659
UMLS 74 C0220659

Summaries for Peripheral Dysostosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1795Disease definitionPeripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.Visit the Orphanet disease page for more resources.

MalaCards based summary : Peripheral Dysostosis, also known as dysostosis peripheral, is related to acrodysostosis and dysostosis. Affiliated tissues include bone and eye, and related phenotypes are osteoarthritis and joint stiffness

Description from OMIM: 170700

Related Diseases for Peripheral Dysostosis

Diseases related to Peripheral Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrodysostosis 11.6
2 dysostosis 10.5
3 sotos syndrome 1 9.9
4 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
5 thiemann disease 9.9
6 brachydactyly 9.9
7 hypoparathyroidism 9.9
8 nephronophthisis 9.9
9 gigantism 9.9
10 juvenile nephronophthisis 9.9

Graphical network of the top 20 diseases related to Peripheral Dysostosis:



Diseases related to Peripheral Dysostosis

Symptoms & Phenotypes for Peripheral Dysostosis

Human phenotypes related to Peripheral Dysostosis:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
5 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
6 cone-shaped epiphyses of the phalanges of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0010230
7 short phalanx of finger 33 HP:0009803
8 hip osteoarthritis 33 HP:0008843

Symptoms via clinical synopsis from OMIM:

58
Limbs:
short fingers
dysostosis of hand and foot tubular bones

Radiology:
conical phalangeal epiphyses

Joints:
osteoarthritis of hips

Clinical features from OMIM:

170700

Drugs & Therapeutics for Peripheral Dysostosis

Search Clinical Trials , NIH Clinical Center for Peripheral Dysostosis

Genetic Tests for Peripheral Dysostosis

Anatomical Context for Peripheral Dysostosis

MalaCards organs/tissues related to Peripheral Dysostosis:

42
Bone, Eye

Publications for Peripheral Dysostosis

Articles related to Peripheral Dysostosis:

(show all 20)
# Title Authors Year
1
A family with diaphyseal aclasis and peripheral dysostosis. ( 7205902 )
1980
2
Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. ( 643365 )
1978
3
Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings. ( 669707 )
1978
4
Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease. ( 1261107 )
1976
5
Peripheral dysostosis associated with juvenile nephronophthisis. ( 1182437 )
1975
6
A spondyloepiphyseal dysplasia with peripheral dysostosis. ( 4214198 )
1974
7
Peripheral dysostosis: an autosomal recessive form. ( 4461057 )
1974
8
Peripheral dysostosis. ( 4461086 )
1974
9
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. ( 5551869 )
1971
10
Sotos' syndrome (cerebral gigantism) with peripheral dysostosis. ( 5089596 )
1971
11
A mental retardation syndrome with peripheral dysostosis and pug nose. ( 5173379 )
1971
12
Peripheral dysostosis: investigation of metabolic and endocrine functions. ( 4305182 )
1969
13
Roentgenographic manifestations of hereditary peripheral dysostosis. ( 5769301 )
1969
14
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? ( 6020652 )
1967
15
Hereditary peripheral dysostosis (three cases). ( 6018472 )
1967
16
PERIPHERAL DYSOSTOSIS. ( 14140678 )
1964
17
PERIPHERAL DYSOSTOSIS. ( 14067662 )
1963
18
Peripheral dysostosis. ( 13925064 )
1962
19
Peripheral dysostosis. ( 14447114 )
1960
20
Peripheral Dysostosis. ( 19993920 )
1957

Variations for Peripheral Dysostosis

Expression for Peripheral Dysostosis

Search GEO for disease gene expression data for Peripheral Dysostosis.

Pathways for Peripheral Dysostosis

GO Terms for Peripheral Dysostosis

Sources for Peripheral Dysostosis

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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