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 [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H02088  Primary intraosseous vascular malformation
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: LD23
ICD-10: Q28.9
OMIM: 606893
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
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