MCID: CLL041
MIFTS: 20

Collagenoma, Familial Cutaneous

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Collagenoma, Familial Cutaneous

MalaCards integrated aliases for Collagenoma, Familial Cutaneous:

Name: Collagenoma, Familial Cutaneous 56 71
Familial Cutaneous Collagenoma 52 58

Characteristics:

Orphanet epidemiological data:

58
familial cutaneous collagenoma
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
collagenoma, familial cutaneous:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 115250
ICD10 via Orphanet 33 L94.8
UMLS via Orphanet 72 C0406817
Orphanet 58 ORPHA53296
MedGen 41 C0406817
UMLS 71 C0406817

Summaries for Collagenoma, Familial Cutaneous

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53296 Definition Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. Visit the Orphanet disease page for more resources.

MalaCards based summary : Collagenoma, Familial Cutaneous, also known as familial cutaneous collagenoma, is related to buschke-ollendorff syndrome. Affiliated tissues include skin and heart, and related phenotypes are papule and skin nodule

More information from OMIM: 115250

Related Diseases for Collagenoma, Familial Cutaneous

Diseases related to Collagenoma, Familial Cutaneous via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 10.3

Symptoms & Phenotypes for Collagenoma, Familial Cutaneous

Human phenotypes related to Collagenoma, Familial Cutaneous:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
2 skin nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200036
3 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
4 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
5 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
6 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
7 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
8 sensorineural hearing impairment 31 HP:0000407
9 vasculitis 31 HP:0002633
10 atrial fibrillation 31 HP:0005110
11 tricuspid regurgitation 31 HP:0005180
12 primary testicular failure 31 HP:0008720
13 iris atrophy 31 HP:0001089
14 right ventricular cardiomyopathy 31 HP:0011663
15 congenital posterior occipital alopecia 31 HP:0007534

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
atrial fibrillation
tricuspid regurgitation
cardiomyopathy, esp. right ventricular
chronic congestive heart failure

Eyes:
iris atrophy

Ears:
sensorineural hearing loss

G U:
primary testicular failure

Skin:
congenital posterior occipital alopecia
cutaneous collagenomas

Vascular:
recurrent vasculitis

Clinical features from OMIM:

115250

Drugs & Therapeutics for Collagenoma, Familial Cutaneous

Search Clinical Trials , NIH Clinical Center for Collagenoma, Familial Cutaneous

Genetic Tests for Collagenoma, Familial Cutaneous

Anatomical Context for Collagenoma, Familial Cutaneous

MalaCards organs/tissues related to Collagenoma, Familial Cutaneous:

40
Skin, Heart

Publications for Collagenoma, Familial Cutaneous

Articles related to Collagenoma, Familial Cutaneous:

(show all 16)
# Title Authors PMID Year
1
Familial cutaneous collagenoma: genetic studies on a family. 56 61
486326 1979
2
Familial cutaneous collagenoma. Report of cases. 56 61
5657391 1968
3
Familial cutaneous collagenomas resulting from a novel mutation in LEMD3. 56
17223882 2007
4
Zosteriform Collagen Nevus in an Infant. 61
27477177 2016
5
A case of familial cutaneous collagenoma. 61
22028557 2011
6
Familial cutaneous collagenoma. 61
18174804 2008
7
Familial cutaneous collagenoma: new affected family with prepubertal onset. 61
17584327 2007
8
Childhood solitary collagenoma. 61
16532106 2006
9
Development of collagenomas during pregnancy. 61
16021167 2005
10
Familial cutaneous collagenoma: report of an affected family. 61
15811085 2005
11
Familial cutaneous collagenoma: a clinicopathologic study of two new cases. 61
14871323 2004
12
Familial cutaneous collagenoma. 61
10025756 1999
13
[Familial cutaneous collagenoma]. 61
9048008 1996
14
Regulation of collagen gene expression in cutaneous diseases with dermal fibrosis: evidence for pretranslational control. 61
3585056 1987
15
Inhibition of collagen accumulation in fibrotic processes: review of pharmacologic agents and new approaches with amino acids and their analogues. 61
7045241 1982
16
Human skin fibroblasts in culture: procollagen synthesis in the presence of sera from normal human subjects and from patients with dermal fibroses. 61
7240793 1981

Variations for Collagenoma, Familial Cutaneous

Expression for Collagenoma, Familial Cutaneous

Search GEO for disease gene expression data for Collagenoma, Familial Cutaneous.

Pathways for Collagenoma, Familial Cutaneous

GO Terms for Collagenoma, Familial Cutaneous

Sources for Collagenoma, Familial Cutaneous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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