RPC
MCID: CLL039
MIFTS: 24

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 56 71
Familial Reactive Perforating Collagenosis 52 58
Inherited Reactive Perforating Collagenosis 52
Rpc 56

Characteristics:

Orphanet epidemiological data:

58
familial reactive perforating collagenosis
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
collagenosis, familial reactive perforating:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 216700
ICD10 via Orphanet 33 L87.1
UMLS via Orphanet 72 C1857624
Orphanet 58 ORPHA79147
MedGen 41 C1857624
UMLS 71 C1857624

Summaries for Collagenosis, Familial Reactive Perforating

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79147 Definition Familial 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 cholangitis and fibrosis of extraocular muscles, congenital, 1. Affiliated tissues include skin and kidney, and related phenotypes are erythematous papule and maculopapular exanthema

More information from OMIM: 216700

Related Diseases for Collagenosis, Familial Reactive Perforating

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:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythematous papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0030350
2 maculopapular exanthema 58 31 hallmark (90%) Very frequent (99-80%) HP:0040186
3 spotty hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0005585
4 hyperkeratotic papule 58 31 frequent (33%) Frequent (79-30%) HP:0045059
5 abnormality of epidermal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0011124
6 increased number of elastic fibers in the dermis 58 31 frequent (33%) Frequent (79-30%) HP:0025164
7 abnormal cutaneous collagen fibril morphology 58 31 frequent (33%) Frequent (79-30%) HP:0031512
8 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
9 abnormality of the pinna 58 31 occasional (7.5%) Occasional (29-5%) HP:0000377
10 crusting erythematous dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007473
11 abnormality of the scalp 58 31 occasional (7.5%) Occasional (29-5%) HP:0001965
12 abnormality of the periorbital region 58 31 occasional (7.5%) Occasional (29-5%) HP:0000606
13 perifolliculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012322
14 abnormal oral mucosa morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0011830
15 abnormality of the dentition 58 Excluded (0%)
16 abnormality of metabolism/homeostasis 31 HP:0001939
17 abnormality of the fingernails 58 Excluded (0%)
18 diabetes mellitus 58 Excluded (0%)
19 abnormality of the skin 31 HP:0000951
20 chronic kidney disease 58 Excluded (0%)
21 inflammatory abnormality of the skin 58 Frequent (79-30%)
22 dermatological manifestations of systemic disorders 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
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:

40
Skin, Kidney

Publications for Collagenosis, Familial Reactive Perforating

Articles related to Collagenosis, Familial Reactive Perforating:

(show all 12)
# Title Authors PMID Year
1
Familial reactive perforating collagenosis and intolerance to cold. 61 56
4425619 1974
2
Mucosal involvement in reactive perforating collagenosis. 56
1810987 1991
3
Reactive perforating collagenosis associated with diabetes mellitus. 56
7053490 1982
4
Reactive perforating collagenosis. 56
4425618 1974
5
Reactive perforating collagenosis. 56
4166922 1967
6
Familial reactive perforating collagenosis: a report of two cases. 61
24891662 2014
7
Familial reactive perforating collagenosis in three siblings. 61
24448140 2014
8
Familial reactive perforating collagenosis in a child: response to narrow-band UVB. 61
22471911 2013
9
A rare case of familial reactive perforating collagenosis. 61
24082211 2013
10
Familial reactive perforating collagenosis. 61
20101333 2009
11
Familial reactive perforating collagenosis: a clinical, histopathological study of 10 cases. 61
17567305 2007
12
Familial reactive perforating collagenosis: a case report. 61
9519612 1998

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
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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