MCID: CLL041
MIFTS: 21

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 57 73
Familial Cutaneous Collagenoma 53 59

Characteristics:

Orphanet epidemiological data:

59
familial cutaneous collagenoma
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
collagenoma, familial cutaneous:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Collagenoma, Familial Cutaneous

NIH Rare Diseases : 53 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 angina pectoris and congestive heart failure

Description from OMIM: 115250

Related Diseases for Collagenoma, Familial Cutaneous

Symptoms & Phenotypes for Collagenoma, Familial Cutaneous

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Collagenoma, Familial Cutaneous:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
2 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
3 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
4 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
5 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
6 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
7 skin nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200036
8 sensorineural hearing impairment 32 HP:0000407
9 vasculitis 32 HP:0002633
10 atrial fibrillation 32 HP:0005110
11 tricuspid regurgitation 32 HP:0005180
12 iris atrophy 32 HP:0001089
13 primary testicular failure 32 HP:0008720
14 congenital posterior occipital alopecia 32 HP:0007534
15 right ventricular cardiomyopathy 32 HP:0011663

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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