KEGG DISEASE: Primary intraosseous vascular malformation

KEGG

DISEASE: Primary intraosseous vascular malformation

Entry

H02088                      Disease

Name

Primary intraosseous vascular malformation;
Primary intraosseous hemangioma

Description

Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively described in sporadic cases. It has recently been reported that loss-of-function mutations in ELMO2 is causative for VMPI in different families.

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD23  Syndromes with vascular anomalies as a major feature
    H02088  Primary intraosseous vascular malformation

Gene

ELMO2 [HSA:63916] [KO:K18985]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Cetinkaya A, Xiong JR, Vargel I, Kosemehmetoglu K, Canter HI, Gerdan OF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan S, Sagiroglu MS, Takahashi T, Reversade B, Akarsu NA

Title

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.

Journal

Am J Hum Genet 99:299-317 (2016)
DOI:10.1016/j.ajhg.2016.06.008

Reference

Authors

Vargel I, Cil BE, Er N, Ruacan S, Akarsu AN, Erk Y

Title

Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder.

Journal

Am J Med Genet 109:22-35 (2002)
DOI:10.1002/ajmg.10282

LinkDB

» Japanese version

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