U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cryofibrinogenemia, familial primary

MedGen UID:
377679
Concept ID:
C1852457
Disease or Syndrome
Synonym: Cryofibrinogenemia, Familial Primary
 
Monarch Initiative: MONDO:0007406
OMIM®: 123540

Clinical features

From HPO
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Transient nephrotic syndrome
MedGen UID:
870203
Concept ID:
C4024638
Disease or Syndrome
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Finding
Bluish discoloration of the skin of the hands or feet.

Recent clinical studies

Diagnosis

Begin P, Leclerc G
N Engl J Med 2013 Aug 22;369(8):e10. doi: 10.1056/NEJMicm1300987. PMID: 23964955
Zimmerman EE, Crawford P
Am Fam Physician 2012 Dec 15;86(12):1118-24. PMID: 23316984
van Geest AJ, van Dooren-Greebe RJ, Andriessen MP, Blomjous CE, Go IH
J Eur Acad Dermatol Venereol 1999 Jan;12(1):47-50. PMID: 10188150
Crowson AN, Magro CM
Hum Pathol 1997 Apr;28(4):478-84. doi: 10.1016/s0046-8177(97)90038-1. PMID: 9104949

Therapy

Zimmerman EE, Crawford P
Am Fam Physician 2012 Dec 15;86(12):1118-24. PMID: 23316984

Clinical prediction guides

Zimmerman EE, Crawford P
Am Fam Physician 2012 Dec 15;86(12):1118-24. PMID: 23316984
Crowson AN, Magro CM
Hum Pathol 1997 Apr;28(4):478-84. doi: 10.1016/s0046-8177(97)90038-1. PMID: 9104949

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...