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Collagenosis, familial reactive perforating(RPC)

MedGen UID:
347504
Concept ID:
C1857624
Disease or Syndrome
Synonyms: RPC
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
OMIM®: 216700
Orphanet: ORPHA79147

Clinical features

Abnormality of the skin
MedGen UID:
504656
Concept ID:
CN000890
Finding
An abnormality of the skin.
Abnormality of metabolism/homeostasis
MedGen UID:
446429
Concept ID:
CN001754
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCollagenosis, familial reactive perforating
Follow this link to review classifications for Collagenosis, familial reactive perforating in Orphanet.

Recent clinical studies

Etiology

Arora K, Hajirnis KA, Sawant S, Sabnis V, Gaikward N
Indian J Pathol Microbiol 2013 Oct-Dec;56(4):355-8. doi: 10.4103/0377-4929.125289. PMID: 24441221
Bansal M, Manchanda K, Kumar A
BMJ Case Rep 2013 Sep 26;2013 doi: 10.1136/bcr-2013-009023. PMID: 24072824Free PMC Article

Diagnosis

Bansal M, Manchanda K, Kumar A
BMJ Case Rep 2013 Sep 26;2013 doi: 10.1136/bcr-2013-009023. PMID: 24072824Free PMC Article
Wagner G, Sachse MM
J Dtsch Dermatol Ges 2013 Aug;11(8):723-9, 723-30. Epub 2013 May 29 doi: 10.1111/ddg.12131. [Epub ahead of print] PMID: 23718268

Therapy

Wagner G, Sachse MM
J Dtsch Dermatol Ges 2013 Aug;11(8):723-9, 723-30. Epub 2013 May 29 doi: 10.1111/ddg.12131. [Epub ahead of print] PMID: 23718268

Prognosis

Bansal M, Manchanda K, Kumar A
BMJ Case Rep 2013 Sep 26;2013 doi: 10.1136/bcr-2013-009023. PMID: 24072824Free PMC Article

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