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 56 52 58
Dysostosis Peripheral 52
Acrodysostosis 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
peripheral dysostosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 170700
ICD10 via Orphanet 33 Q74.8
Orphanet 58 ORPHA1795
MedGen 41 C4721502
UMLS 71 C0220659

Summaries for Peripheral Dysostosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1795 Definition Peripheral 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 trichorhinophalangeal syndrome. Affiliated tissues include bone and eye, and related phenotypes are osteoarthritis and joint stiffness

More information from OMIM: 170700

Related Diseases for Peripheral Dysostosis

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:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
6 cone-shaped epiphyses of the phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0010230
7 hip osteoarthritis 31 HP:0008843
8 short phalanx of finger 31 HP:0009803

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone, Eye

Publications for Peripheral Dysostosis

Articles related to Peripheral Dysostosis:

(show top 50) (show all 54)
# Title Authors PMID Year
1
A family with diaphyseal aclasis and peripheral dysostosis. 61 56
7205902 1980
2
Peripheral dysostosis: an autosomal recessive form. 61 56
4461057 1974
3
Roentgenographic manifestations of hereditary peripheral dysostosis. 61 56
5769301 1969
4
Hereditary peripheral dysostosis (three cases). 61 56
6018472 1967
5
PERIPHERAL DYSOSTOSIS. 61 56
14067662 1963
6
Peripheral dysostosis. 61 56
14447114 1960
7
Acrodysostosis and spinal canal involvement. 61
23548849 2014
8
Novel mutations of the PRKAR1A gene in patients with acrodysostosis. 61
23425300 2013
9
Acrodysostosis associated with hypercalcemia. 61
23933701 2013
10
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. 61
23033274 2013
11
Adult case of acrodysostosis with severe neurologic involvement. 61
20023341 2009
12
Metabolic syndrome manifestations in an adolescent with acrodysostosis. 61
17663300 2007
13
Acrodysostosis: autosomal dominant transmission. 61
16141486 2005
14
Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. 61
9039990 1997
15
Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker. 61
8267010 1993
16
Trichorhinophalangeal syndrome. 61
1925732 1991
17
Acrodysostosis in two generations: an autosomal dominant syndrome. 61
1860254 1991
18
[Peripheral dysostosis of Brailsford: epiphyseal-metaphyseal acrodysplasia]. 61
2516419 1989
19
[Acrodysostosis: an autosomal inherited form of peripheral dysostosis]. 61
2722579 1989
20
Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. 61
3055990 1988
21
Acrodysostosis and protrusio acetabuli. An association. 61
3339057 1988
22
[Peripheral dysostosis, hypoplasia of the nose, low stature. Description of a case]. 61
4088909 1985
23
[Tricho-rhino-phalangeal syndrome. Four family cases]. 61
7384726 1980
24
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes. 61
431989 1979
25
[The tricho-rhino-phalangeal syndrome (author's transl)]. 61
732492 1978
26
Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings. 61
669707 1978
27
Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. 61
643365 1978
28
[Familial nephropathy with retinitis pigmentosa and peripheral dysostosis]. 61
617982 1977
29
[Hereditary peripheral epi-diaphyseal dysostosis. Report of a case of atypical peripheral dysostosis]. 61
906107 1977
30
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. 61
188348 1977
31
Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease. 61
1261107 1976
32
Peripheral dysostosis associated with juvenile nephronophthisis. 61
1182437 1975
33
The widened spectrum of multiple cartilaginous exostosis (MCE). 61
1085923 1975
34
A spondyloepiphyseal dysplasia with peripheral dysostosis. 61
4214198 1974
35
Peripheral dysostosis. 61
4461086 1974
36
Sotos' syndrome (cerebral gigantism) with peripheral dysostosis. 61
5089596 1971
37
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. 61
5551869 1971
38
A mental retardation syndrome with peripheral dysostosis and pug nose. 61
5173379 1971
39
[The tricho-phalangeal syndrome: a new form of peripheral dysostosis]. 61
5433051 1970
40
[On a case of familial peripheral dysostosis]. 61
5478736 1970
41
Peripheral dysostosis: investigation of metabolic and endocrine functions. 61
4305182 1969
42
[Peripheral dysostosis]. 61
4976985 1969
43
[Peripheral dysostosis (PD)--a collective concept]. 61
5307918 1969
44
An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses? 61
6020652 1967
45
[On a case of peripheral dysostosis]. 61
5930398 1966
46
[Ainhum in Eritrea. Description of a case associated with a picture of Brailsford's peripheral dysostosis]. 61
5859839 1965
47
[4 CASES OF PERIPHERAL DYSOSTOSIS OCCURRING IN 1 FAMILY]. 61
14327368 1965
48
[PERIPHERAL DYSOSTOSIS AND THE "CONE" EPIPHYSIS]. 61
14191640 1964
49
PERIPHERAL DYSOSTOSIS. 61
14140678 1964
50
[Peripheral dysostosis]. 61
14022081 1962

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
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
Content
Loading form....