RPC
MCID: CLL039
MIFTS: 23

Collagenosis, Familial Reactive Perforating (RPC)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Collagenosis, Familial Reactive Perforating

MalaCards integrated aliases for Collagenosis, Familial Reactive Perforating:

Name: Collagenosis, Familial Reactive Perforating 58 74
Familial Reactive Perforating Collagenosis 54 60
Inherited Reactive Perforating Collagenosis 54
Rpc 58

Characteristics:

Orphanet epidemiological data:

60
familial reactive perforating collagenosis
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
collagenosis, familial reactive perforating:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 216700
ICD10 via Orphanet 35 L87.1
UMLS via Orphanet 75 C1857624
Orphanet 60 ORPHA79147
MedGen 43 C1857624
UMLS 74 C1857624

Summaries for Collagenosis, Familial Reactive Perforating

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79147Disease definitionFamilial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.Visit the Orphanet disease page for more resources.

MalaCards based summary : Collagenosis, Familial Reactive Perforating, also known as familial reactive perforating collagenosis, is related to rheumatoid arthritis and cystic fibrosis. Affiliated tissues include skin and kidney, and related phenotypes are maculopapular exanthema and erythematous papule

Description from OMIM: 216700

Related Diseases for Collagenosis, Familial Reactive Perforating

Diseases related to Collagenosis, Familial Reactive Perforating via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rheumatoid arthritis 10.1
2 cystic fibrosis 10.1
3 relapsing polychondritis 10.1
4 gastritis 10.1
5 eosinophilic gastritis 10.1
6 cholangitis 10.1

Graphical network of the top 20 diseases related to Collagenosis, Familial Reactive Perforating:



Diseases related to Collagenosis, Familial Reactive Perforating

Symptoms & Phenotypes for Collagenosis, Familial Reactive Perforating

Human phenotypes related to Collagenosis, Familial Reactive Perforating:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 maculopapular exanthema 60 33 hallmark (90%) Very frequent (99-80%) HP:0040186
2 erythematous papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0030350
3 spotty hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0005585
4 hyperkeratotic papule 60 33 frequent (33%) Frequent (79-30%) HP:0045059
5 abnormality of epidermal morphology 60 33 frequent (33%) Frequent (79-30%) HP:0011124
6 increased number of elastic fibers in the dermis 60 33 frequent (33%) Frequent (79-30%) HP:0025164
7 abnormal cutaneous collagen fibril morphology 60 33 frequent (33%) Frequent (79-30%) HP:0031512
8 pruritus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000989
9 abnormality of the pinna 60 33 occasional (7.5%) Occasional (29-5%) HP:0000377
10 crusting erythematous dermatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0007473
11 abnormality of the scalp 60 33 occasional (7.5%) Occasional (29-5%) HP:0001965
12 abnormality of the periorbital region 60 33 occasional (7.5%) Occasional (29-5%) HP:0000606
13 perifolliculitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012322
14 abnormal oral mucosa morphology 33 very rare (1%) HP:0011830
15 diabetes mellitus 60 Excluded (0%)
16 abnormality of the dentition 60 Excluded (0%)
17 abnormality of metabolism/homeostasis 33 HP:0001939
18 abnormality of the fingernails 60 Excluded (0%)
19 abnormality of oral mucosa 60 Very rare (<4-1%)
20 abnormality of the skin 33 HP:0000951
21 chronic kidney disease 60 Excluded (0%)
22 inflammatory abnormality of the skin 60 Frequent (79-30%)
23 dermatological manifestations of systemic disorders 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
Skin:
recurrent umbilicated papules, sun-exposed skin, lips and mouth

Lab:
collagen fiber extrusion through the epidermis

Clinical features from OMIM:

216700

Drugs & Therapeutics for Collagenosis, Familial Reactive Perforating

Search Clinical Trials , NIH Clinical Center for Collagenosis, Familial Reactive Perforating

Genetic Tests for Collagenosis, Familial Reactive Perforating

Anatomical Context for Collagenosis, Familial Reactive Perforating

MalaCards organs/tissues related to Collagenosis, Familial Reactive Perforating:

42
Skin, Kidney

Publications for Collagenosis, Familial Reactive Perforating

Articles related to Collagenosis, Familial Reactive Perforating:

# Title Authors Year
1
Familial reactive perforating collagenosis in three siblings. ( 24448140 )
2014
2
Familial reactive perforating collagenosis: a report of two cases. ( 24891662 )
2014
3
Familial reactive perforating collagenosis in a child: response to narrow-band UVB. ( 22471911 )
2013
4
A rare case of familial reactive perforating collagenosis. ( 24082211 )
2013
5
Familial reactive perforating collagenosis. ( 20101333 )
2009
6
Familial reactive perforating collagenosis: a clinical, histopathological study of 10 cases. ( 17567305 )
2007
7
Familial reactive perforating collagenosis: a case report. ( 9519612 )
1998
8
Familial reactive perforating collagenosis and intolerance to cold. ( 4425619 )
1974

Variations for Collagenosis, Familial Reactive Perforating

Expression for Collagenosis, Familial Reactive Perforating

Search GEO for disease gene expression data for Collagenosis, Familial Reactive Perforating.

Pathways for Collagenosis, Familial Reactive Perforating

GO Terms for Collagenosis, Familial Reactive Perforating

Sources for Collagenosis, Familial Reactive Perforating

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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