MCID: CLC064
MIFTS: 25

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 60
Juvenile Aponeurotic Fibromatosis 60
Juvenile Aponeurotic Fibroma 74
Keasby Tumor 60

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

ICD10 via Orphanet 35 M72.8
UMLS via Orphanet 75 C0553647
Orphanet 60 ORPHA199260
UMLS 74 C0553647

Summaries for Calcifying Aponeurotic Fibroma

MalaCards based summary : Calcifying Aponeurotic Fibroma, also known as juvenile aponeurotic fibromatosis, is related to fibroma and gout. An important gene associated with Calcifying Aponeurotic Fibroma is ACTC1 (Actin Alpha Cardiac Muscle 1), and among its related pathways/superpathways is Signaling by ERBB4. Affiliated tissues include skin and bone, and related phenotype is normal.

Related Diseases for Calcifying Aponeurotic Fibroma

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:

47
# 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

MalaCards organs/tissues related to Calcifying Aponeurotic Fibroma:

42
Skin, Bone

Publications for Calcifying Aponeurotic Fibroma

Articles related to Calcifying Aponeurotic Fibroma:

(show all 42)
# Title Authors Year
1
Calcifying Aponeurotic Fibroma of the Hallux <sub>A Case Report</sub>. ( 29547027 )
2018
2
Multiple calcifying aponeurotic fibroma: case report and review of the literature. ( 30701881 )
2018
3
Calcifying aponeurotic fibroma: a core biopsy-based diagnosis. ( 30799443 )
2018
4
Calcifying aponeurotic fibroma in a girl: MRI findings and their chronological changes. ( 28828138 )
2017
5
Intraarticular calcifying aponeurotic fibroma of the wrist: mimicking gout or calcium pyrophosphate dihydrate deposition disease. ( 29243144 )
2017
6
Masson's tumor and calcifying aponeurotic fibroma: two rare softtissue lesions in the same finger. High-resolution ultrasound features with histopathological correlations. ( 29197926 )
2017
7
Painful calcifying aponeurotic fibroma. ( 27279317 )
2016
8
Painful calcifying aponeurotic fibroma. ( 27140812 )
2016
9
MRI features of calcifying aponeurotic fibroma in the upper arm: a case report and review of the literature. ( 27236326 )
2016
10
FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma. ( 26691015 )
2016
11
Calcifying aponeurotic fibroma in children: our experience and a literature review. ( 27182752 )
2016
12
Calcifying aponeurotic fibroma of the dorsum of the foot: radiographic and magnetic resonance imaging findings in a four-year-old boy. ( 25901261 )
2015
13
Calcifying aponeurotic fibroma of the finger in an elderly patient: CT and MRI findings with pathologic correlation. ( 25120611 )
2014
14
Calcifying aponeurotic fibroma: case report with radiographic and MR features. ( 24497803 )
2014
15
Calcifying aponeurotic fibroma of the distal phalanx. ( 23182670 )
2013
16
Calcifying aponeurotic fibroma of the elbow: a case report. ( 21372502 )
2011
17
Recurrent calcifying aponeurotic fibroma of the thumb: case report. ( 21093179 )
2011
18
Giant intramuscular calcifying aponeurotic fibroma of gluteus maximus: case report. ( 20828463 )
2010
19
Calcifying aponeurotic fibroma with bone islands exhibiting hematopoiesis: a case report and review of the literature. ( 20451845 )
2010
20
Infantile fibrosarcoma successfully treated with chemotherapy, with occurrence of calcifying aponeurotic fibroma and pleomorphic/spindled celled lipoma at the site 12 years later. ( 19648795 )
2009
21
Calcifying aponeurotic fibroma with osseous involvement of the finger: a case report with radiologic and US findings. ( 18253083 )
2008
22
Clinical significance of magnetic resonance imaging in the preoperative differential diagnosis of calcifying aponeurotic fibroma. ( 18528649 )
2008
23
A case of calcifying aponeurotic fibroma arising in the medial pterygoid muscle. ( 18201623 )
2008
24
A case of calcifying aponeurotic fibroma of the scalp: case report and review of the literature. ( 17958596 )
2007
25
Calcifying aponeurotic fibroma of the knee: A case report with radiological findings. ( 16620220 )
2006
26
Calcifying aponeurotic fibroma of the hand: radiologic differentiation from giant cell tumors of the tendon sheath. ( 16843166 )
2006
27
Acute median-nerve compression caused by calcifying aponeurotic fibroma. ( 17117010 )
2006
28
MR imaging of calcifying aponeurotic fibroma of the thigh. ( 14689252 )
2004
29
Calcifying aponeurotic fibroma: a case report and review of literature. ( 15022918 )
2003
30
Rare malignant transformation of a calcifying aponeurotic fibroma. ( 12377925 )
2002
31
Calcifying aponeurotic fibroma of the hand. A case report. ( 11315790 )
2001
32
Calcifying aponeurotic fibroma features seen on fine-needle aspiration biopsy: case report and brief review of the literature. ( 11335964 )
2001
33
Calcifying aponeurotic fibroma: a report of three cases. ( 11725577 )
2001
34
Calcifying aponeurotic fibroma: a clinicopathologic study of 22 cases arising in uncommon sites. ( 9865839 )
1998
35
Juvenile (calcifying) aponeurotic fibroma of the neck. ( 9553195 )
1998
36
Extra-acral calcifying aponeurotic fibroma: a distinctive case with 23-year follow-up. ( 8864926 )
1996
37
Calcifying aponeurotic fibroma: a report of three cases. ( 7553423 )
1995
38
Calcifying aponeurotic fibroma. A case of multiple primary tumours. Case report. ( 1626221 )
1992
39
Calcifying aponeurotic fibroma. ( 1875005 )
1991
40
Calcifying aponeurotic fibroma. ( 2976134 )
1988
41
Calcifying aponeurotic fibroma in a dog. ( 1116957 )
1975
42
Letter: Calcifying aponeurotic fibroma. ( 1150502 )
1975

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
10.66 EGF PGR

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 ACTC1 FN1
2 platelet alpha granule lumen GO:0031093 8.62 EGF FN1

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.16 EGF FN1
2 platelet degranulation GO:0002576 8.96 EGF FN1
3 positive regulation of gene expression GO:0010628 8.8 ACTC1 EGF FN1

Sources for Calcifying Aponeurotic Fibroma

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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