KEGG DISEASE: Combined deficiency of factors V and VIII

DISEASE: Combined deficiency of factors V and VIII

Entry

H00221                      Disease

Name

Combined deficiency of factors V and VIII

Description

Combined deficiency of factors V and VIII (F5F8D) is caused by mutations in LMAN1 or MCFD2, which form a complex working as a cargo receptor for transport of coagulation factors V and VIII from ER to Golgi.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   Coagulation defects
    Congenital or constitutional haemorrhagic condition
     3B14  Other inherited coagulation factor deficiency with bleeding tendency
      H00221  Combined deficiency of factors V and VIII

Pathway

hsa04141

Protein processing in endoplasmic reticulum

Gene

LMAN1 [HSA:3998] [KO:K10080]
MCFD2 [HSA:90411] [KO:K20364]

Other DBs

ICD-11:

3B14.Z

MeSH:

C565577

OMIM:

227300 613625

Reference

PMID:19141160

Authors

Spreafico M, Peyvandi F

Title

Combined FV and FVIII deficiency.

Journal

Haemophilia 14:1201-8 (2008)
DOI:10.1111/j.1365-2516.2008.01845.x

Reference

PMID:18391077

Authors

Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D

Title

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Journal

Blood 111:5592-600 (2008)
DOI:10.1182/blood-2007-10-113951

Reference

PMID:16304051

Authors

Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufman RJ, Nichols WC, Tuddenham EG, Ginsburg D

Title

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Journal

Blood 107:1903-7 (2006)
DOI:10.1182/blood-2005-09-3620

Reference

PMID:12717434

Authors

Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D

Title

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

Journal

Nat Genet 34:220-5 (2003)
DOI:10.1038/ng1153

LinkDB

» Japanese version

DBGET integrated database retrieval system