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 57 72
Familial Reactive Perforating Collagenosis 53 59
Inherited Reactive Perforating Collagenosis 53
Rpc 57

Characteristics:

Orphanet epidemiological data:

59
familial reactive perforating collagenosis
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
collagenosis, familial reactive perforating:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 216700
ICD10 via Orphanet 34 L87.1
UMLS via Orphanet 73 C1857624
Orphanet 59 ORPHA79147
MedGen 42 C1857624
UMLS 72 C1857624

Summaries for Collagenosis, Familial Reactive Perforating

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79147DefinitionFamilial 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 greig cephalopolysyndactyly syndrome. Affiliated tissues include skin and kidney, and related phenotypes are maculopapular exanthema and erythematous papule

More information 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:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 cholangitis 10.2
2 greig cephalopolysyndactyly syndrome 10.0
3 cystic fibrosis 10.0
4 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
5 retinitis pigmentosa 10.0
6 macular degeneration, age-related, 1 10.0
7 meningioma, radiation-induced 10.0
8 meningioma, familial 10.0
9 neuroretinitis 10.0
10 mumps 10.0
11 spinal meningioma 10.0
12 gastroenteritis 10.0
13 relapsing polychondritis 10.0
14 adenocarcinoma 10.0
15 retinitis 10.0
16 gastritis 10.0
17 eosinophilic gastritis 10.0
18 eosinophilic gastroenteritis 10.0
19 bile duct disease 10.0
20 secretory meningioma 10.0
21 lymphoplasmacyte-rich meningioma 10.0
22 retinal degeneration 10.0
23 bronchiectasis 10.0
24 eosinophilic enteropathy 10.0
25 perioral myoclonia with absences 10.0

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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 maculopapular exanthema 59 32 hallmark (90%) Very frequent (99-80%) HP:0040186
2 erythematous papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0030350
3 spotty hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0005585
4 hyperkeratotic papule 59 32 frequent (33%) Frequent (79-30%) HP:0045059
5 abnormality of epidermal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0011124
6 increased number of elastic fibers in the dermis 59 32 frequent (33%) Frequent (79-30%) HP:0025164
7 abnormal cutaneous collagen fibril morphology 59 32 frequent (33%) Frequent (79-30%) HP:0031512
8 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
9 abnormality of the pinna 59 32 occasional (7.5%) Occasional (29-5%) HP:0000377
10 crusting erythematous dermatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007473
11 abnormality of the scalp 59 32 occasional (7.5%) Occasional (29-5%) HP:0001965
12 abnormality of the periorbital region 59 32 occasional (7.5%) Occasional (29-5%) HP:0000606
13 perifolliculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012322
14 abnormal oral mucosa morphology 32 very rare (1%) HP:0011830
15 diabetes mellitus 59 Excluded (0%)
16 abnormality of the dentition 59 Excluded (0%)
17 abnormality of metabolism/homeostasis 32 HP:0001939
18 abnormality of the fingernails 59 Excluded (0%)
19 abnormality of oral mucosa 59 Very rare (<4-1%)
20 abnormality of the skin 32 HP:0000951
21 chronic kidney disease 59 Excluded (0%)
22 inflammatory abnormality of the skin 59 Frequent (79-30%)
23 dermatological manifestations of systemic disorders 59 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 38 8
4425619 1974
2
Mucosal involvement in reactive perforating collagenosis. 8
1810987 1991
3
Reactive perforating collagenosis associated with diabetes mellitus. 8
7053490 1982
4
Reactive perforating collagenosis. 8
4425618 1974
5
Reactive perforating collagenosis. 8
4166922 1967
6
Familial reactive perforating collagenosis: a report of two cases. 38
24891662 2014
7
Familial reactive perforating collagenosis in three siblings. 38
24448140 2014
8
Familial reactive perforating collagenosis in a child: response to narrow-band UVB. 38
22471911 2013
9
A rare case of familial reactive perforating collagenosis. 38
24082211 2013
10
Familial reactive perforating collagenosis. 38
20101333 2009
11
Familial reactive perforating collagenosis: a clinical, histopathological study of 10 cases. 38
17567305 2007
12
Familial reactive perforating collagenosis: a case report. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....