MCID: CLL041
MIFTS: 19

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 58 74
Familial Cutaneous Collagenoma 54 60

Characteristics:

Orphanet epidemiological data:

60
familial cutaneous collagenoma
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
collagenoma, familial cutaneous:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Collagenoma, Familial Cutaneous

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 53296Disease definitionFamilial 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, is also known as familial cutaneous collagenoma. Affiliated tissues include skin and heart, and related phenotypes are papule and skin nodule

Description from OMIM: 115250

Related Diseases for Collagenoma, Familial Cutaneous

Symptoms & Phenotypes for Collagenoma, Familial Cutaneous

Human phenotypes related to Collagenoma, Familial Cutaneous:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
2 skin nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200036
3 abnormality of skin pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0001000
4 angina pectoris 60 33 occasional (7.5%) Occasional (29-5%) HP:0001681
5 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
6 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
7 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
8 sensorineural hearing impairment 33 HP:0000407
9 vasculitis 33 HP:0002633
10 atrial fibrillation 33 HP:0005110
11 tricuspid regurgitation 33 HP:0005180
12 iris atrophy 33 HP:0001089
13 primary testicular failure 33 HP:0008720
14 congenital posterior occipital alopecia 33 HP:0007534
15 right ventricular cardiomyopathy 33 HP:0011663

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
atrial fibrillation
tricuspid regurgitation
cardiomyopathy, esp. right ventricular
chronic congestive heart failure

G U:
primary testicular failure

Skin:
cutaneous collagenomas
congenital posterior occipital alopecia

Eyes:
iris atrophy

Ears:
sensorineural hearing loss

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:

42
Skin, Heart

Publications for Collagenoma, Familial Cutaneous

Articles related to Collagenoma, Familial Cutaneous:

# Title Authors Year
1
A case of familial cutaneous collagenoma. ( 22028557 )
2011
2
Familial cutaneous collagenoma. ( 18174804 )
2008
3
Familial cutaneous collagenoma: new affected family with prepubertal onset. ( 17584327 )
2007
4
Familial cutaneous collagenoma: report of an affected family. ( 15811085 )
2005
5
Familial cutaneous collagenoma: a clinicopathologic study of two new cases. ( 14871323 )
2004
6
Familial cutaneous collagenoma. ( 10025756 )
1999
7
Familial cutaneous collagenoma: genetic studies on a family. ( 486326 )
1979
8
Familial cutaneous collagenoma. Report of cases. ( 5657391 )
1968

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
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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