MCID: CLC064
MIFTS: 22

Calcifying Aponeurotic Fibroma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Calcifying Aponeurotic Fibroma

MalaCards integrated aliases for Calcifying Aponeurotic Fibroma:

Name: Calcifying Aponeurotic Fibroma 58
Juvenile Aponeurotic Fibromatosis 58
Juvenile Aponeurotic Fibroma 70
Keasby Tumor 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 M72.8
UMLS via Orphanet 71 C0553647
Orphanet 58 ORPHA199260
UMLS 70 C0553647

Summaries for Calcifying Aponeurotic Fibroma

MalaCards based summary : Calcifying Aponeurotic Fibroma, also known as juvenile aponeurotic fibromatosis, is related to chondroma and fibroma. An important gene associated with Calcifying Aponeurotic Fibroma is ACTC1 (Actin Alpha Cardiac Muscle 1), and among its related pathways/superpathways are Signaling by ERBB4 and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Related phenotype is normal.

Related Diseases for Calcifying Aponeurotic Fibroma

Diseases related to Calcifying Aponeurotic Fibroma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 chondroma 30.3 FN1 ACTC1
2 fibroma 11.0
3 rare soft tissue tumor 10.5
4 fibromatosis 10.4
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
6 fibrosarcoma 10.3
7 anisocoria 10.2
8 lipomatosis, multiple 10.2
9 rhabdomyosarcoma 2 10.2
10 pleomorphic lipoma 10.2
11 gout 10.2
12 benign giant cell tumor 10.2
13 tenosynovial giant cell tumor 10.2
14 rhabdomyosarcoma 10.2
15 extraskeletal chondroma 10.2
16 congenital fibrosarcoma 10.2
17 pathologic nystagmus 10.2
18 soft tissue sarcoma 10.2
19 rare tumor 10.2
20 glycogen-rich clear cell breast carcinoma 10.0 PGR ACTC1
21 adult cystic nephroma 10.0 PGR ACTC1
22 nephroma 10.0 PGR ACTC1
23 benign metastasizing leiomyoma 10.0 PGR ACTC1
24 breast myoepithelial carcinoma 10.0 PGR ACTC1
25 bizarre leiomyoma 10.0 PGR ACTC1
26 myxoid leiomyosarcoma 10.0 PGR ACTC1
27 leiomyosarcoma 10.0 PGR ACTC1
28 juvenile nasopharyngeal angiofibroma 10.0 PGR ACTC1
29 epithelioid leiomyosarcoma 10.0 PGR ACTC1
30 adenosarcoma 10.0 PGR ACTC1
31 perivascular epithelioid cell tumor 10.0 PGR ACTC1
32 chickenpox 10.0 PGR ACTC1
33 smooth muscle tumor 10.0 PGR ACTC1
34 angiomyolipoma 10.0 PGR ACTC1
35 cerebral meningioma 10.0 PGR EGF
36 thoracic benign neoplasm 9.9 PGR EGF
37 breast benign neoplasm 9.9 PGR EGF
38 prostatic hypertrophy 9.9 PGR EGF
39 carcinosarcoma 9.9 PGR ACTC1
40 estrogen-receptor negative breast cancer 9.9 PGR EGF
41 pre-malignant neoplasm 9.9 PGR EGF
42 cystadenocarcinoma 9.9 PGR ACTC1
43 in situ carcinoma 9.9 PGR EGF
44 endometrial adenocarcinoma 9.9 PGR EGF
45 breast carcinoma in situ 9.9 PGR EGF
46 estrogen-receptor positive breast cancer 9.9 PGR EGF
47 intraductal papilloma 9.9 PGR FN1
48 endometrial stromal sarcoma 9.9 PGR ACTC1
49 ductal carcinoma in situ 9.9 PGR EGF
50 amelogenesis imperfecta, type ig 9.8 PGR EGF

Graphical network of the top 20 diseases related to Calcifying Aponeurotic Fibroma:



Diseases related to Calcifying Aponeurotic Fibroma

Symptoms & Phenotypes for Calcifying Aponeurotic Fibroma

MGI Mouse Phenotypes related to Calcifying Aponeurotic Fibroma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.92 ACTC1 EGF FN1 PGR

Drugs & Therapeutics for Calcifying Aponeurotic Fibroma

Search Clinical Trials , NIH Clinical Center for Calcifying Aponeurotic Fibroma

Genetic Tests for Calcifying Aponeurotic Fibroma

Anatomical Context for Calcifying Aponeurotic Fibroma

Publications for Calcifying Aponeurotic Fibroma

Articles related to Calcifying Aponeurotic Fibroma:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Recurrent calcifying aponeurotic fibroma of the hand: managing a rare hand tumour in an evolving healthcare landscape. 61
33431463 2021
2
A Case of Large Calcifying Fibroma of Tendo-achilles Managed by En-block Resection and Tendon Reconstruction. 61
33187898 2021
3
SOX9 Immunohistochemistry in the Distinction of Angiomatoid Fibrous Histiocytoma From Histologic Mimics: Diagnostic Utility and Pitfalls. 61
31567275 2020
4
Calcifying aponeurotic fibroma around Achilles tendon: A case report. 61
32300471 2020
5
Calcifying aponeurotic fibroma of the thigh: A differential diagnosis for infant knee contracture and leg length inequality (a case report). 61
32305030 2020
6
What is new about the molecular genetics in matrix-producing soft tissue tumors? -The contributions to pathogenetic understanding and diagnostic classification. 61
31701222 2020
7
Calcified or ossified benign soft tissue lesions that may simulate malignancy. 61
31297550 2019
8
Calcifying aponeurotic fibroma of the sole of the foot in an elderly patient. 61
31103838 2019
9
Expression Profiling of Receptor-Activator of Nuclear Factor-Kappa B Ligand in Soft Tissue Tumors. 61
31189751 2019
10
Deep palmar tumorous conditions of the hand. 61
30955477 2019
11
Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases. 61
30310176 2019
12
Calcifying aponeurotic fibroma: a core biopsy-based diagnosis. 61
30799443 2018
13
Intraarticular calcifying aponeurotic fibroma of the wrist: mimicking gout or calcium pyrophosphate dihydrate deposition disease. 61
29243144 2018
14
Multiple calcifying aponeurotic fibroma: case report and review of the literature. 61
30701881 2018
15
Calcifying Aponeurotic Fibroma of the Hallux A Case Report. 61
29547027 2018
16
Fibroblastic and myofibroblastic tumors of children: new genetic entities and new ancillary testing. 61
30613391 2018
17
Calcifying aponeurotic fibroma in children: our experience and a literature review. 61
27182752 2017
18
Masson's tumor and calcifying aponeurotic fibroma: two rare softtissue lesions in the same finger. High-resolution ultrasound features with histopathological correlations. 61
29197926 2017
19
Calcifying aponeurotic fibroma in a girl: MRI findings and their chronological changes. 61
28828138 2017
20
MRI features of calcifying aponeurotic fibroma in the upper arm: a case report and review of the literature. 61
27236326 2016
21
Painful calcifying aponeurotic fibroma. 61
27279317 2016
22
FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma. 61
26691015 2016
23
Calcifying aponeurotic fibroma of the dorsum of the foot: radiographic and magnetic resonance imaging findings in a four-year-old boy. 61
25901261 2015
24
[Calcifying aponeurotic fibroma of the right shoulder in an infant]. 61
25760850 2015
25
Fibrous hamartoma of infancy: a clinical pathological analysis of seventeen cases. 61
26045872 2015
26
Calcifying aponeurotic fibroma of the finger in an elderly patient: CT and MRI findings with pathologic correlation. 61
25120611 2014
27
Calcifying aponeurotic fibroma: case report with radiographic and MR features. 61
24497803 2014
28
Calcifying aponeurotic fibroma of the distal phalanx. 61
23182670 2013
29
Calcifying (juvenile) aponeurotic fibroma of the scalp. 61
22033965 2011
30
Calcifying aponeurotic fibroma of the elbow: a case report. 61
21372502 2011
31
Unusual presentation of a rare tumor of the dorsal surface of the foot. 61
22363857 2011
32
Recurrent calcifying aponeurotic fibroma of the thumb: case report. 61
21093179 2011
33
Calcifying aponeurotic fibroma with bone islands exhibiting hematopoiesis: a case report and review of the literature. 61
20451845 2010
34
Giant intramuscular calcifying aponeurotic fibroma of gluteus maximus: case report. 61
20828463 2010
35
From the archives of the AFIP: musculoskeletal fibromatoses: radiologic-pathologic correlation. 61
19926768 2009
36
Beta-catenin expression in pediatric fibroblastic and myofibroblastic lesions: a study of 100 cases. 61
18939887 2009
37
Infantile fibrosarcoma successfully treated with chemotherapy, with occurrence of calcifying aponeurotic fibroma and pleomorphic/spindled celled lipoma at the site 12 years later. 61
19648795 2009
38
Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene. 61
18806481 2008
39
Clinical significance of magnetic resonance imaging in the preoperative differential diagnosis of calcifying aponeurotic fibroma. 61
18528649 2008
40
[Calcifying aponeurotic fibroma: a case report]. 61
18552538 2008
41
A case of calcifying aponeurotic fibroma arising in the medial pterygoid muscle. 61
18201623 2008
42
Calcifying aponeurotic fibroma with osseous involvement of the finger: a case report with radiologic and US findings. 61
18253083 2008
43
A case of calcifying aponeurotic fibroma of the scalp: case report and review of the literature. 61
17958596 2007
44
Acute median-nerve compression caused by calcifying aponeurotic fibroma. 61
17117010 2006
45
Calcifying aponeurotic fibroma of the hand: radiologic differentiation from giant cell tumors of the tendon sheath. 61
16843166 2006
46
Calcifying aponeurotic fibroma of the knee: A case report with radiological findings. 61
16620220 2006
47
Lipofibromatosis presenting as a pediatric neck mass. 61
15533569 2004
48
MR imaging of calcifying aponeurotic fibroma of the thigh. 61
14689252 2004
49
Calcifying aponeurotic fibroma: a case report and review of literature. 61
15022918 2003
50
Rare malignant transformation of a calcifying aponeurotic fibroma. 61
12377925 2002

Variations for Calcifying Aponeurotic Fibroma

Expression for Calcifying Aponeurotic Fibroma

Search GEO for disease gene expression data for Calcifying Aponeurotic Fibroma.

Pathways for Calcifying Aponeurotic Fibroma

Pathways related to Calcifying Aponeurotic Fibroma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.99 PGR EGF
2 10.6 FN1 EGF

GO Terms for Calcifying Aponeurotic Fibroma

Cellular components related to Calcifying Aponeurotic Fibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.96 FN1 ACTC1
2 platelet alpha granule lumen GO:0031093 8.62 FN1 EGF

Biological processes related to Calcifying Aponeurotic Fibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.16 FN1 EGF
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 8.96 FN1 EGF
3 positive regulation of gene expression GO:0010628 8.8 FN1 EGF ACTC1

Sources for Calcifying Aponeurotic Fibroma

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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