MCID: ACR062
MIFTS: 38

Acroosteolysis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Acroosteolysis

MalaCards integrated aliases for Acroosteolysis:

Name: Acroosteolysis 58 30 56
Acro-Osteolysis 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
acroosteolysis:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 102400
MedGen 43 C0917990
SNOMED-CT via HPO 70 263681008 27201004 63122002
UMLS 74 C0917990

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, kidney and t cells, and related phenotypes are osteolytic defects of the phalanges of the hand and osteolytic defects of the phalanges of the toes

Wikipedia : 77 Acroosteolysis is resorption of the distal bony phalanges. Acroosteolysis has two patterns of... 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 81)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 32.8 LMNA ZMPSTE24
2 acroosteolysis dominant type 12.5
3 hajdu-cheney syndrome 12.1
4 premature aging syndrome, penttinen type 11.7
5 neuropathy, hereditary sensory and autonomic, type iia 11.5
6 idiopathic phalangeal acro-osteolysis 11.4
7 warburg-cinotti syndrome 11.4
8 haim-munk syndrome 11.3
9 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.2
10 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 11.2
11 cleidocranial dysplasia 11.0
12 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 11.0
13 mandibuloacral dysplasia with type b lipodystrophy 11.0
14 neuropathy, hereditary sensory and autonomic, type iib 11.0
15 diffuse cutaneous systemic sclerosis 11.0
16 restrictive dermopathy, lethal 10.3 LMNA ZMPSTE24
17 complete generalized lipodystrophy 10.3 LMNA ZMPSTE24
18 ovarian cystadenoma 10.3 LMNA ZMPSTE24
19 reynolds syndrome 10.3 LMNA ZMPSTE24
20 lipodystrophy, congenital generalized, type 1 10.3 LMNA ZMPSTE24
21 congenital generalized lipodystrophy 10.2 LMNA ZMPSTE24
22 hallermann-streiff syndrome 10.2 LMNA ZMPSTE24
23 scleroderma, familial progressive 10.2
24 acquired generalized lipodystrophy 10.2 LMNA ZMPSTE24
25 median neuropathy 10.2 LMNA VEGFA
26 hutchinson-gilford progeria syndrome 10.2 LMNA ZMPSTE24
27 systemic lupus erythematosus 10.2
28 lupus erythematosus 10.2
29 joint disorders 10.1
30 mixed connective tissue disease 10.1
31 arthropathy 10.1
32 connective tissue disease 10.1
33 primary hypertrophic osteoarthropathy 10.1 HPGD SLCO2A1
34 autosomal genetic disease 10.0 LMNA VEGFA
35 vascular dementia 10.0 RETREG1 VEGFA
36 choledocholithiasis 10.0 ALB CTSC
37 carpal tunnel syndrome 9.9
38 down syndrome 9.9
39 papillon-lefevre syndrome 9.9
40 adrenomyodystrophy 9.9
41 mononeuropathy of the median nerve, mild 9.9
42 adult t-cell leukemia 9.9
43 burns 9.9
44 chronic kidney failure 9.9
45 diabetes mellitus 9.9
46 glomerulonephritis 9.9
47 leukemia 9.9
48 lymphoma 9.9
49 blepharophimosis 9.9
50 ehlers-danlos syndrome 9.9

Graphical network of the top 20 diseases related to Acroosteolysis:



Diseases related to Acroosteolysis

Symptoms & Phenotypes for Acroosteolysis

Human phenotypes related to Acroosteolysis:

33
# Description HPO Frequency HPO Source Accession
1 osteolytic defects of the phalanges of the hand 33 HP:0009771
2 osteolytic defects of the phalanges of the toes 33 HP:0010177

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Acroosteolysis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.87 ALB CTSC HPGD LMNA SLCO2A1 VEGFA
2 homeostasis/metabolism MP:0005376 9.7 ALB CTSC HPGD LMNA SLCO2A1 VEGFA
3 endocrine/exocrine gland MP:0005379 9.65 ALB HPGD LMNA VEGFA ZMPSTE24
4 integument MP:0010771 9.35 CTSC LMNA RETREG1 VEGFA ZMPSTE24
5 renal/urinary system MP:0005367 9.02 ALB LMNA SLCO2A1 VEGFA ZMPSTE24

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 30

Anatomical Context for Acroosteolysis

MalaCards organs/tissues related to Acroosteolysis:

42
Bone, Kidney, T Cells, Skin, Spinal Cord, Endothelial, Brain

Publications for Acroosteolysis

Articles related to Acroosteolysis:

(show top 50) (show all 156)
# Title Authors Year
1
Acroosteolysis in Systemic Sclerosis. ( 30454843 )
2019
2
Band acro-osteolysis in a middle-aged woman. ( 30914415 )
2019
3
Acroosteolysis in a patient with systemic lupus erythematosus/mixed connective tissue disease. ( 30184147 )
2018
4
Acroosteolysis in a patient with systemic lupus erythematosus/mixed connective tissue disease. ( 30312455 )
2018
5
Brachyonychia Associated with Acroosteolysis in Chronic Kidney Disease: How Phalange Shape Influences Nail Morphology. ( 30410893 )
2018
6
Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report. ( 29995760 )
2018
7
A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis. ( 28600213 )
2018
8
Occult dysraphism presenting with acro-osteolysis. ( 29633333 )
2018
9
Acro-osteolysis. ( 30308144 )
2018
10
Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis. ( 30528549 )
2018
11
Congenital non-syndromic anonychia totalis with acroosteolysis. ( 29122908 )
2017
12
Acro-osteolysis and calcinosis in patient with scleroderma: A case report. ( 28017514 )
2017
13
NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome. ( 28040705 )
2017
14
Severe Acro-osteolysis in a Case of Limited Cutaneous Scleroderma. ( 28451545 )
2017
15
Acro-osteolysis. ( 27796661 )
2017
16
The 'Te' Technique for Restoring Fingertip Stability Post Traumatic Acro-Osteolysis - A Report and Review of Management Options. ( 29117838 )
2017
17
Digital clubbing: A patient with hypertrophic osteoarthropathy and the presence of acro-osteolysis. ( 29291924 )
2017
18
Association of Acroosteolysis With Enhanced Osteoclastogenesis and Higher Blood Levels of Vascular Endothelial Growth Factor in Systemic Sclerosis. ( 26361270 )
2016
19
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? ( 26733286 )
2016
20
Case 229: Burn-related Global Ankylosis of Interphalangeal Joints with Associated Acroosteolysis. ( 27089192 )
2016
21
Acroosteolysis in systemic sclerosis: An insight into hypoxia-related pathogenesis. ( 27882179 )
2016
22
Acro-osteolysis & calcinosis in scleroderma. ( 27834340 )
2016
23
Late Nailfold Videocapillaroscopy Pattern Associated With Hand Calcinosis and Acro-Osteolysis in Systemic Sclerosis. ( 26223810 )
2016
24
Acro-osteolysis as an indicator of severity in systemic sclerosis. ( 26746600 )
2016
25
Acroosteolysis presenting with brachyonychia following exposure to cold. ( 25385354 )
2015
26
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. ( 26184537 )
2015
27
IMAGES IN CLINICAL MEDICINE. Band Acro-osteolysis. ( 26244328 )
2015
28
A new acro-osteolysis syndrome caused by duplications including PTHLH. ( 25007883 )
2014
29
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type. ( 23720404 )
2013
30
Clinical images: transverse acroosteolysis. ( 22294451 )
2012
31
Acroosteolysis in diabetes mellitus. ( 23204315 )
2012
32
Acro-osteolysis in systemic sclerosis is associated with digital ischaemia and severe calcinosis. ( 22923763 )
2012
33
Hypertrophic osteoarthropathy with acro-osteolysis in a patient with primary pulmonary hypertension. ( 22285205 )
2012
34
Surfer's toe: trauma-induced idiopathic acro-osteolysis in the toes of a 46-year-old surfer: a case report. ( 22461275 )
2012
35
Acro-osteolysis. ( 22658741 )
2012
36
Idiopathic non-familial acro-osteolysis: a rare case report. ( 23248369 )
2012
37
Acroosteolysis in systemic lupus erythematosus. ( 21325957 )
2011
38
Severe psoriatic acroosteolysis in the absence of psoriatic arthropathy. ( 22669957 )
2011
39
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. ( 21488202 )
2011
40
A patient with acro-osteolysis syndrome: Hajdu-Cheney. ( 20046011 )
2010
41
[Acroosteolysis in PVC autoclave cleaners: history of an occupational disease]. ( 20521560 )
2010
42
Exuberant calcinosis and acroosteolysis. A diagnostic challenge. ( 19796563 )
2009
43
Acro-osteolysis of the big toe in a patient with psoriatic arthritis. ( 19738210 )
2009
44
Vitamin D, parathyroid hormone, and acroosteolysis in systemic sclerosis. ( 18843781 )
2008
45
Acro-osteolysis and mononeuritis multiplex as a presenting symptom of systemic angiitis of Wegener's type. ( 17401258 )
2007
46
Acro-osteolysis: a complication of Jadassohn-Lewandowsky syndrome. ( 17269978 )
2007
47
Catastrophic acro-osteolysis of hands in systemic sclerosis. ( 17551387 )
2007
48
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? ( 17103436 )
2006
49
Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up. ( 17199968 )
2006
50
Acro-osteolysis and symphalangism mutations. ( 15619682 )
2005

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 positive regulation of gene expression GO:0010628 9.5 LMNA VEGFA ZMPSTE24
2 heart morphogenesis GO:0003007 9.26 VEGFA ZMPSTE24
3 nucleus organization GO:0006997 9.16 LMNA ZMPSTE24
4 nuclear envelope organization GO:0006998 8.96 LMNA ZMPSTE24
5 cardiac muscle fiber development GO:0048739 8.62 VEGFA ZMPSTE24

Sources for Acroosteolysis

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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