MCID: ACR062
MIFTS: 34

Acroosteolysis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Acroosteolysis

MalaCards integrated aliases for Acroosteolysis:

Name: Acroosteolysis 57 29 55
Acro-Osteolysis 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
acroosteolysis:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 57 102400
MedGen 42 C0917990
SNOMED-CT via HPO 69 263681008 27201004 63122002

Summaries for Acroosteolysis

MalaCards based summary : Acroosteolysis, also known as acro-osteolysis, is related to mandibuloacral dysplasia with type a lipodystrophy and acroosteolysis dominant type. An important gene associated with Acroosteolysis is LMNA (Lamin A/C), and among its related pathways/superpathways is Transport of vitamins, nucleosides, and related molecules. Affiliated tissues include bone, endothelial and kidney, and related phenotypes are osteolytic defects of the phalanges of the hand and osteolytic defects of the phalanges of the toes

Wikipedia : 76 Acroosteolysis is resorption of the distal bony phalanges. Acroosteolysis has two patterns of resorption... more...

Description from OMIM: 102400

Related Diseases for Acroosteolysis

Diseases in the Acroosteolysis family:

Acroosteolysis Dominant Type

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 32.9 LMNA ZMPSTE24
2 acroosteolysis dominant type 12.3
3 hajdu-cheney syndrome 11.9
4 premature aging syndrome, penttinen type 11.5
5 neuropathy, hereditary sensory and autonomic, type iia 11.3
6 idiopathic phalangeal acro-osteolysis 11.2
7 haim-munk syndrome 11.1
8 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.0
9 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 11.0
10 cleidocranial dysplasia 10.8
11 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 10.8
12 mandibuloacral dysplasia with type b lipodystrophy 10.8
13 neuropathy, hereditary sensory and autonomic, type iib 10.8
14 diffuse cutaneous systemic sclerosis 10.8
15 restrictive dermopathy, lethal 10.5 LMNA ZMPSTE24
16 reynolds syndrome 10.5 LMNA ZMPSTE24
17 hallermann-streiff syndrome 10.5 LMNA ZMPSTE24
18 congenital generalized lipodystrophy 10.4 LMNA ZMPSTE24
19 median neuropathy 10.4 LMNA VEGFA
20 hutchinson-gilford progeria syndrome 10.3 LMNA ZMPSTE24
21 primary hypertrophic osteoarthropathy 10.2 HPGD SLCO2A1
22 scleroderma, familial progressive 10.0
23 arthropathy 9.9
24 vascular dementia 9.8 RETREG1 VEGFA
25 choledocholithiasis 9.8 ALB CTSC
26 pleural disease 9.8 ALB CTSC
27 severe nonproliferative diabetic retinopathy 9.8 ALB VEGFA
28 background diabetic retinopathy 9.8 ALB VEGFA
29 carpal tunnel syndrome 9.8
30 systemic lupus erythematosus 9.8
31 adrenomyodystrophy 9.8
32 mononeuropathy of the median nerve, mild 9.8
33 burns 9.8
34 diabetes mellitus 9.8
35 glomerulonephritis 9.8
36 blepharophimosis 9.8
37 ehlers-danlos syndrome 9.8
38 calcinosis 9.8
39 ankylosis 9.8
40 cervicitis 9.8
41 lupus erythematosus 9.8
42 kid syndrome 9.8
43 polymyositis 9.8
44 hypoxia 9.8
45 endotheliitis 9.8
46 hypertensive nephropathy 9.8 ALB VEGFA
47 gastric lymphoma 9.8 ALB VEGFA
48 hydrops, lactic acidosis, and sideroblastic anemia 9.7 ALB VEGFA
49 hepatopulmonary syndrome 9.7 ALB VEGFA
50 gastritis, familial giant hypertrophic 9.7 ALB SLCO2A1

Graphical network of the top 20 diseases related to Acroosteolysis:



Diseases related to Acroosteolysis

Symptoms & Phenotypes for Acroosteolysis

Symptoms via clinical synopsis from OMIM:

57
Limbs:
osteolysis of phalanges
recurrent ulcers, fingers and soles
bone sequestra
loss of toes or fingers

Misc:
onset 8 to 22 years
phenocopy in vinyl chloride workers


Clinical features from OMIM:

102400

Human phenotypes related to Acroosteolysis:

32
# Description HPO Frequency HPO Source Accession
1 osteolytic defects of the phalanges of the hand 32 HP:0009771
2 osteolytic defects of the phalanges of the toes 32 HP:0010177

MGI Mouse Phenotypes related to Acroosteolysis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.87 SLCO2A1 VEGFA ZMPSTE24 ALB CTSC HPGD
2 homeostasis/metabolism MP:0005376 9.7 SLCO2A1 VEGFA ZMPSTE24 ALB CTSC HPGD
3 endocrine/exocrine gland MP:0005379 9.65 VEGFA ZMPSTE24 ALB HPGD LMNA
4 integument MP:0010771 9.35 RETREG1 VEGFA ZMPSTE24 CTSC LMNA
5 renal/urinary system MP:0005367 9.02 SLCO2A1 VEGFA ZMPSTE24 ALB LMNA

Drugs & Therapeutics for Acroosteolysis

Search Clinical Trials , NIH Clinical Center for Acroosteolysis

Genetic Tests for Acroosteolysis

Genetic tests related to Acroosteolysis:

# Genetic test Affiliating Genes
1 Acroosteolysis 29

Anatomical Context for Acroosteolysis

MalaCards organs/tissues related to Acroosteolysis:

41
Bone, Endothelial, Kidney, Skin

Publications for Acroosteolysis

Articles related to Acroosteolysis:

(show all 26)
# Title Authors Year
1
Congenital non-syndromic anonychia totalis with acroosteolysis. ( 29122908 )
2017
2
Case 229: Burn-related Global Ankylosis of Interphalangeal Joints with Associated Acroosteolysis. ( 27089192 )
2016
3
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? ( 26733286 )
2016
4
Association of Acroosteolysis With Enhanced Osteoclastogenesis and Higher Blood Levels of Vascular Endothelial Growth Factor in Systemic Sclerosis. ( 26361270 )
2016
5
Acroosteolysis in systemic sclerosis: An insight into hypoxia-related pathogenesis. ( 27882179 )
2016
6
Acroosteolysis presenting with brachyonychia following exposure to cold. ( 25385354 )
2015
7
Clinical images: transverse acroosteolysis. ( 22294451 )
2012
8
Acroosteolysis in diabetes mellitus. ( 23204315 )
2012
9
Severe psoriatic acroosteolysis in the absence of psoriatic arthropathy. ( 22669957 )
2011
10
Acroosteolysis in systemic lupus erythematosus. ( 21325957 )
2011
11
[Acroosteolysis in PVC autoclave cleaners: history of an occupational disease]. ( 20521560 )
2010
12
Exuberant calcinosis and acroosteolysis. A diagnostic challenge. ( 19796563 )
2009
13
Vitamin D, parathyroid hormone, and acroosteolysis in systemic sclerosis. ( 18843781 )
2008
14
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? ( 17103436 )
2006
15
Idiopathic phalangeal acroosteolysis: a case report. ( 12713861 )
2003
16
Occupational acroosteolysis in a guitar player. ( 8095757 )
1993
17
Carpal tunnel syndrome presenting with ischemic skin lesions, acroosteolysis, and nail changes. ( 8340499 )
1993
18
Papillon-LefA"vre syndrome with acroosteolysis. ( 2050850 )
1991
19
Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis. ( 2347142 )
1990
20
Jaccoud arthropathy and acroosteolysis in KID syndrome. ( 2810288 )
1989
21
Acroosteolysis and polymyositis. ( 3204610 )
1988
22
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. ( 3527178 )
1986
23
Joint contractures and acroosteolysis in Ehlers-Danlos syndrome type IV. ( 3981500 )
1985
24
Sporadic idiopathic acroosteolysis with cranio-skeletal dysplasis, polycystic kidneys and glomerulonephritis. A case of the Hajdu-Cheney syndrome. ( 896350 )
1977
25
Acroosteolysis (Hajdu-Cheney syndrome). ( 4461055 )
1974
26
New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. ( 5173234 )
1971

Variations for Acroosteolysis

Expression for Acroosteolysis

Search GEO for disease gene expression data for Acroosteolysis.

Pathways for Acroosteolysis

Pathways related to Acroosteolysis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes

GO Terms for Acroosteolysis

Cellular components related to Acroosteolysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 ALB VEGFA

Biological processes related to Acroosteolysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium-independent organic anion transport GO:0043252 8.96 ALB SLCO2A1
2 nuclear envelope organization GO:0006998 8.62 LMNA ZMPSTE24

Sources for Acroosteolysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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