Aliases & Classifications for Acroosteolysis

MalaCards integrated aliases for Acroosteolysis:

Name: Acroosteolysis 57 29 54
Acro-Osteolysis 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
acroosteolysis:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM® 57 102400
MedGen 41 C0917990
SNOMED-CT via HPO 68 263681008 27201004 63122002
UMLS 70 C0917990

Summaries for Acroosteolysis

MalaCards based summary : Acroosteolysis, also known as acro-osteolysis, is related to mandibuloacral dysplasia with type a lipodystrophy and hypertrophic osteoarthropathy, primary, autosomal recessive, 1. An important gene associated with Acroosteolysis is LMNA (Lamin A/C). 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 : 73 Acroosteolysis is resorption of the distal bony phalanges. Acroosteolysis has two patterns of resorption... more...

More information from OMIM: 102400

Related Diseases for Acroosteolysis

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

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 32.1 ZMPSTE24 LMNA
2 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 31.5 SLCO2A1 HPGD
3 laminopathy 30.1 ZMPSTE24 LMNA
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.1 ZMPSTE24 LMNA
5 primary hypertrophic osteoarthropathy 29.9 SLCO2A1 HPGD
6 neuropathy 28.9 VEGFA RETREG1 LMNA ALB
7 hajdu-cheney syndrome 11.6
8 premature aging syndrome, penttinen type 11.4
9 neuropathy, hereditary sensory and autonomic, type iia 11.3
10 haim-munk syndrome 11.2
11 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.1
12 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 11.0
13 idiopathic phalangeal acro-osteolysis 11.0
14 pycnodysostosis 10.9
15 warburg-cinotti syndrome 10.9
16 cleidocranial dysplasia 10.9
17 mandibuloacral dysplasia with type b lipodystrophy 10.9
18 neuropathy, hereditary sensory and autonomic, type iib 10.9
19 diffuse cutaneous systemic sclerosis 10.9
20 acquired generalized lipodystrophy 10.3 ZMPSTE24 LMNA
21 reynolds syndrome 10.3 ZMPSTE24 LMNA
22 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.3 ZMPSTE24 LMNA
23 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.3 ZMPSTE24 LMNA
24 complete generalized lipodystrophy 10.3 ZMPSTE24 LMNA
25 charcot-marie-tooth disease, axonal, type 2b1 10.3 ZMPSTE24 LMNA
26 restrictive dermopathy, lethal 10.3 ZMPSTE24 LMNA
27 lipodystrophy, familial partial, type 5 10.3 ZMPSTE24 LMNA
28 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.2 ZMPSTE24 LMNA
29 skin atrophy 10.2 ZMPSTE24 LMNA
30 secondary hypertrophic osteoarthropathy 10.2 SLCO2A1 HPGD
31 lipodystrophy, familial partial, type 2 10.2 ZMPSTE24 LMNA
32 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.2 ZMPSTE24 LMNA
33 progeroid syndrome 10.1 MTX2 LMNA
34 scleroderma, familial progressive 10.1
35 bone resorption disease 10.1
36 raynaud phenomenon 10.1
37 senile cataract 10.1 LMNA ALB
38 systemic lupus erythematosus 10.0
39 calcinosis 10.0
40 arthropathy 10.0
41 lupus erythematosus 10.0
42 plague 10.0 CTSC ALB
43 cardiomyopathy, dilated, 1h 10.0 ZMPSTE24 LMNA
44 keratitis, hereditary 9.9
45 adrenomyodystrophy 9.9
46 branchiootic syndrome 1 9.9
47 rickets 9.9
48 secondary hyperparathyroidism 9.9
49 hyperparathyroidism 9.9
50 ichthyosis 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:

31
# Description HPO Frequency HPO Source Accession
1 osteolytic defects of the phalanges of the hand 31 HP:0009771
2 osteolytic defects of the phalanges of the toes 31 HP:0010177

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Acroosteolysis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 ALB DDR2 HPGD LMNA SLCO2A1 VEGFA
2 cellular MP:0005384 9.86 ALB CTSC DDR2 HPGD LMNA SLCO2A1
3 endocrine/exocrine gland MP:0005379 9.63 ALB DDR2 HPGD LMNA VEGFA ZMPSTE24
4 integument MP:0010771 9.43 CTSC DDR2 LMNA RETREG1 VEGFA ZMPSTE24
5 muscle MP:0005369 9.02 ALB DDR2 LMNA 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:

40
Bone, Skin, Kidney, Endothelial, Spinal Cord, Liver, Thyroid

Publications for Acroosteolysis

Articles related to Acroosteolysis:

(show top 50) (show all 514)
# Title Authors PMID Year
1
Acro-osteolysis occurring in men engaged in the polymerization of vinyl chloride. 57 61
6038365 1967
2
[Dominant acro-osteolysis]. 57 61
14461884 1961
3
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. 61 54
18554282 2008
4
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. 54 61
17848409 2007
5
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. 61 54
16278265 2006
6
Acral lichen myxedematosus showing acro-osteolysis in a patient with Sjögren syndrome. 61
33560548 2021
7
[Atypical arthritis of the hands : Collagenosis-part 2]. 61
33792744 2021
8
The first probable evidence of leprosy in a male individual (17th-19th century AD) unearthed in Northern Portugal (Travanca, Santa Maria da Feira). 61
33482498 2021
9
Does hand involvement in systemic sclerosis limit completion of patient-reported outcome measures? 61
33094395 2021
10
Systemic Sclerosis Associated Acro-osteolysis and Tumor Necrosis Factor Blockade. 61
31688344 2021
11
Sarcoidosis-associated acro-osteolysis. 61
33653863 2021
12
Systemic sclerosis skin is a 'primed' microenvironment for soft tissue calcification - a hypothesis. 61
33585894 2021
13
Clinical and genetic evaluation of Danish patients with pycnodysostosis. 61
33429075 2021
14
Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations. 61
32241674 2021
15
Prevalence and clinical association with acro-osteolysis in early systemic sclerosis. 61
33427611 2021
16
Band acro-osteolysis in systemic sclerosis. 61
33493313 2021
17
A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment. 61
32772338 2021
18
Ultrasonography, MRI and classic radiography of skin and MSK involvement in juvenile scleroderma. 61
33500800 2021
19
Carpal tunnel syndrome and associated nail changes: Review and examples from the author's practice. 61
32199899 2020
20
Osteitis in Systemic Sclerosis: a nationwide case-control retrospective study (SCLEROS Study). 61
33278067 2020
21
A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment 61
32248673 2020
22
Calcinosis is associated with ischemic manifestations and increased disability in patients with systemic sclerosis. 61
32898758 2020
23
Association of Musculoskeletal and Radiological Features with Clinical and Serological Findings in Systemic Sclerosis: A Single-Centre Registry Study. 61
33163868 2020
24
PYKNODYSOSTOSIS (OSTEOPETROSIS ACRO-OSTEOLYTICA). 61
32984533 2020
25
Hajdu-Cheney Syndrome: A Systematic Review of the Literature. 61
32854429 2020
26
Digital ulcers and acro-osteolysis in mixed connective tissue disease. 61
31665458 2020
27
Hutchinson-Gilford Progeria syndrome: Report of the first Togolese case. 61
32297714 2020
28
Musculoskeletal hand involvement in systemic sclerosis. 61
31812353 2020
29
Antisense oligonucleotides targeting Notch2 ameliorate the osteopenic phenotype in a mouse model of Hajdu-Cheney syndrome. 61
31992595 2020
30
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review. 61
32143606 2020
31
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report. 61
31807803 2020
32
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. 61
30980954 2020
33
Association of radiographic findings in hand X-ray with clinical features and autoantibodies in patients with systemic sclerosis. 61
31214867 2020
34
Scleroderma with Acro-Osteolysis and Papular Mucinosis Resembling Multicentric Reticulohistiocytosis. 61
32789122 2020
35
Nail changes in acro-osteolysis: A case report and review of the literature. 61
31763428 2019
36
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines. 61
31856865 2019
37
Acroosteolysis and bone metabolism parameters distinguish female patients with limited systemic sclerosis with and without calcinosis: a case control study. 61
31218481 2019
38
Thoracic Deformity and Acro-Osteolysis in Severe Renal Osteodystrophy. 61
31685157 2019
39
[Treatment of tibia fracture with LCP plate in picnodisostosis]. 61
32767886 2019
40
Digital clubbing: A patient with hypertrophic osteoarthropathy and the presence of acro-osteolysis. 61
29291924 2019
41
Clinical Image: Acro-osteolysis. 61
31777834 2019
42
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review. 61
31237352 2019
43
The Hajdu Cheney mutation sensitizes mice to the osteolytic actions of tumor necrosis factor α. 61
31371452 2019
44
Distal radius and tibia bone microarchitecture impairment in female patients with diffuse systemic sclerosis. 61
31030240 2019
45
Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis. 61
30528549 2019
46
Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile. 61
30919593 2019
47
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome. 61
30573803 2019
48
Acro-osteolysis. 61
30308144 2019
49
Band acro-osteolysis in a middle-aged woman. 61
30914415 2019
50
Acroosteolysis in a patient with systemic lupus erythematosus/mixed connective tissue disease. 61
30184147 2019

Variations for Acroosteolysis

Expression for Acroosteolysis

Search GEO for disease gene expression data for Acroosteolysis.

Pathways for Acroosteolysis

GO Terms for Acroosteolysis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.26 ZMPSTE24 LMNA
2 regulation of bone mineralization GO:0030500 9.16 ZMPSTE24 DDR2
3 nuclear envelope organization GO:0006998 8.96 ZMPSTE24 LMNA
4 cardiac muscle fiber development GO:0048739 8.62 ZMPSTE24 VEGFA

Sources for Acroosteolysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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