MCID: ACR062
MIFTS: 39

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:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 102400
MedGen 42 C0917990
SNOMED-CT via HPO 69 263681008 27201004 63122002
UMLS 73 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, skin 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... 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 77)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 32.6 ZMPSTE24 LMNA
2 acroosteolysis dominant type 12.5
3 hajdu-cheney syndrome 12.1
4 premature aging syndrome, penttinen type 11.6
5 neuropathy, hereditary sensory and autonomic, type iia 11.5
6 idiopathic phalangeal acro-osteolysis 11.4
7 haim-munk syndrome 11.2
8 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.2
9 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 11.1
10 cleidocranial dysplasia 11.0
11 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 11.0
12 mandibuloacral dysplasia with type b lipodystrophy 11.0
13 neuropathy, hereditary sensory and autonomic, type iib 11.0
14 diffuse cutaneous systemic sclerosis 11.0
15 scleroderma, familial progressive 10.2
16 complete generalized lipodystrophy 10.2 ZMPSTE24 LMNA
17 restrictive dermopathy, lethal 10.2 ZMPSTE24 LMNA
18 ovarian cystadenoma 10.2 ZMPSTE24 LMNA
19 reynolds syndrome 10.2 ZMPSTE24 LMNA
20 lipodystrophy, congenital generalized, type 1 10.2 ZMPSTE24 LMNA
21 congenital generalized lipodystrophy 10.2 ZMPSTE24 LMNA
22 hallermann-streiff syndrome 10.2 ZMPSTE24 LMNA
23 acquired generalized lipodystrophy 10.1 ZMPSTE24 LMNA
24 systemic lupus erythematosus 10.1
25 lupus erythematosus 10.1
26 median neuropathy 10.1 VEGFA LMNA
27 hutchinson-gilford progeria syndrome 10.1 ZMPSTE24 LMNA
28 primary hypertrophic osteoarthropathy 10.1 SLCO2A1 HPGD
29 mixed connective tissue disease 10.0
30 arthropathy 10.0
31 connective tissue disease 10.0
32 autosomal genetic disease 10.0 VEGFA LMNA
33 choledocholithiasis 10.0 CTSC ALB
34 severe nonproliferative diabetic retinopathy 9.9 VEGFA ALB
35 gastritis, familial giant hypertrophic 9.9 SLCO2A1 ALB
36 vascular dementia 9.9 VEGFA RETREG1
37 background diabetic retinopathy 9.9 VEGFA ALB
38 hypertensive nephropathy 9.9 VEGFA ALB
39 gastric lymphoma 9.9 VEGFA ALB
40 hydrops, lactic acidosis, and sideroblastic anemia 9.9 VEGFA ALB
41 vein disease 9.9 VEGFA ALB
42 hepatopulmonary syndrome 9.9 VEGFA ALB
43 intermittent claudication 9.9 VEGFA ALB
44 ovarian hyperstimulation syndrome 9.9 VEGFA ALB
45 retinal vascular disease 9.9 VEGFA ALB
46 severe pre-eclampsia 9.9 VEGFA ALB
47 carpal tunnel syndrome 9.9
48 down syndrome 9.9
49 adrenomyodystrophy 9.9
50 mononeuropathy of the median nerve, mild 9.9

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 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 29

Anatomical Context for Acroosteolysis

MalaCards organs/tissues related to Acroosteolysis:

41
Bone, Skin, Kidney, Endothelial, T Cells, Brain, Spinal Cord

Publications for Acroosteolysis

Articles related to Acroosteolysis:

(show top 50) (show all 121)
# Title Authors Year
1
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
2
Acroosteolysis in Systemic Sclerosis. ( 30454843 )
2018
3
Brachyonychia Associated with Acroosteolysis in Chronic Kidney Disease: How Phalange Shape Influences Nail Morphology. ( 30410893 )
2018
4
Acroosteolysis in a patient with systemic lupus erythematosus/mixed connective tissue disease. ( 30312455 )
2018
5
Acroosteolysis in a patient with systemic lupus erythematosus/mixed connective tissue disease. ( 30184147 )
2018
6
Occult dysraphism presenting with acro-osteolysis. ( 29633333 )
2018
7
Acro-osteolysis. ( 30308144 )
2018
8
Lamin A/C gene (LMNA) mutation associated with laminopathy: a rare cause of idiopathic acro-osteolysis. ( 30528549 )
2018
9
Congenital non-syndromic anonychia totalis with acroosteolysis. ( 29122908 )
2017
10
NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome. ( 28040705 )
2017
11
Acro-osteolysis. ( 27796661 )
2017
12
The 'Te' Technique for Restoring Fingertip Stability Post Traumatic Acro-Osteolysis - A Report and Review of Management Options. ( 29117838 )
2017
13
Digital clubbing: A patient with hypertrophic osteoarthropathy and the presence of acro-osteolysis. ( 29291924 )
2017
14
Severe Acro-osteolysis in a Case of Limited Cutaneous Scleroderma. ( 28451545 )
2017
15
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? ( 26733286 )
2016
16
Acroosteolysis in systemic sclerosis: An insight into hypoxia-related pathogenesis. ( 27882179 )
2016
17
Association of Acroosteolysis With Enhanced Osteoclastogenesis and Higher Blood Levels of Vascular Endothelial Growth Factor in Systemic Sclerosis. ( 26361270 )
2016
18
Case 229: Burn-related Global Ankylosis of Interphalangeal Joints with Associated Acroosteolysis. ( 27089192 )
2016
19
Acro-osteolysis as an indicator of severity in systemic sclerosis. ( 26746600 )
2016
20
Acroosteolysis presenting with brachyonychia following exposure to cold. ( 25385354 )
2015
21
IMAGES IN CLINICAL MEDICINE. Band Acro-osteolysis. ( 26244328 )
2015
22
Acroosteolysis in diabetes mellitus. ( 23204315 )
2012
23
Clinical images: transverse acroosteolysis. ( 22294451 )
2012
24
Acro-osteolysis. ( 22658741 )
2012
25
Surfer's toe: trauma-induced idiopathic acro-osteolysis in the toes of a 46-year-old surfer: a case report. ( 22461275 )
2012
26
Severe psoriatic acroosteolysis in the absence of psoriatic arthropathy. ( 22669957 )
2011
27
Acroosteolysis in systemic lupus erythematosus. ( 21325957 )
2011
28
[Acroosteolysis in PVC autoclave cleaners: history of an occupational disease]. ( 20521560 )
2010
29
A patient with acro-osteolysis syndrome: Hajdu-Cheney. ( 20046011 )
2010
30
Exuberant calcinosis and acroosteolysis. A diagnostic challenge. ( 19796563 )
2009
31
Acro-osteolysis of the big toe in a patient with psoriatic arthritis. ( 19738210 )
2009
32
Vitamin D, parathyroid hormone, and acroosteolysis in systemic sclerosis. ( 18843781 )
2008
33
Catastrophic acro-osteolysis of hands in systemic sclerosis. ( 17551387 )
2007
34
Acro-osteolysis: a complication of Jadassohn-Lewandowsky syndrome. ( 17269978 )
2007
35
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? ( 17103436 )
2006
36
Acro-osteolysis and symphalangism mutations. ( 15619682 )
2005
37
Idiopathic phalangeal acroosteolysis: a case report. ( 12713861 )
2003
38
Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome? ( 12072792 )
2002
39
Isolated asymmetrical acro-osteolysis of the big toe in an elder patient with rheumatoid arthritisasymmetrical. ( 12102287 )
2002
40
Acro-osteolysis in a patient with scleroderma. ( 11908276 )
2002
41
Spinal dysraphism presenting as acro-osteolysis: report of four cases. ( 11358545 )
2001
42
Acro-osteolysis prior to diagnosis of leprosy. ( 11105499 )
2000
43
Osteoporosis associated with non-familial acro-osteolysis successful treatment with an anti-resorptive agent. ( 19078428 )
1999
44
Unusual and memorable. Acro-osteolysis of the terminal phalanges. ( 9797563 )
1998
45
Carpal tunnel syndrome presenting as sclerodactylia, nail dystrophy and acro-osteolysis in a 60-year-old woman. ( 9310726 )
1997
46
Congenital dysmorphism of finger and toenails associated with acro-osteolysis. ( 7999627 )
1994
47
Carpal tunnel syndrome presenting with ischemic skin lesions, acroosteolysis, and nail changes. ( 8340499 )
1993
48
Occupational acroosteolysis in a guitar player. ( 8095757 )
1993
49
Idiopathic acro-osteolysis in an elderly woman. A 10-year follow-up. ( 1586583 )
1992
50
Acro-osteolysis of phalanges in a case of cystic fibrosis. ( 1459688 )
1992

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 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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