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Cerebral cavernous malformation 3(CCM3)

MedGen UID:
355121
Concept ID:
C1864040
Disease or Syndrome
Synonyms: Cerebral cavernous malformations 3; Familial Cerebral Cavernous Malformation 3
 
Gene (location): PDCD10 (3q26.1)
 
Monarch Initiative: MONDO:0011305
OMIM®: 603285

Disease characteristics

Excerpted from the GeneReview: Familial Cerebral Cavernous Malformations
Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives. [from GeneReviews]
Authors:
Kelly D Flemming  |  Edward Smith  |  Douglas Marchuk, et. al.   view full author information

Additional description

From MedlinePlus Genetics
There are two forms of the condition: familial and sporadic. The familial form is passed from parent to child, and affected individuals typically have multiple cerebral cavernous malformations. The sporadic form occurs in people with no family history of the disorder. These individuals typically have only one malformation.

Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related health problems. Other people with this condition may experience serious signs and symptoms such as headaches, seizures, paralysis, hearing or vision loss, and bleeding in the brain (cerebral hemorrhage). Severe brain hemorrhages can result in death. The location and number of cerebral cavernous malformations determine the severity of this disorder. These malformations can change in size and number over time.

Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).  https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation

Clinical features

From HPO
Cerebral cavernous malformation
MedGen UID:
418825
Concept ID:
C2919945
Congenital Abnormality
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.
Cerebral hemorrhage
MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
Hemorrhage into the parenchyma of the brain.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Paralysis
MedGen UID:
105510
Concept ID:
C0522224
Finding
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.

Professional guidelines

PubMed

Li DY, Whitehead KJ
Stroke 2010 Oct;41(10 Suppl):S92-4. doi: 10.1161/STROKEAHA.110.594929. PMID: 20876517Free PMC Article

Recent clinical studies

Etiology

Sugden PH, McGuffin LJ, Clerk A
Biochem J 2013 Aug 15;454(1):13-30. doi: 10.1042/BJ20130219. PMID: 23889253
Xu X, Wang X, Ding J, Wang DC
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Diagnosis

Abou-Fadel J, Qu Y, Gonzalez EM, Smith M, Zhang J
Oncol Rep 2020 Jun;43(6):1945-1963. Epub 2020 Mar 18 doi: 10.3892/or.2020.7550. PMID: 32186778Free PMC Article
Lauenborg B, Kopp K, Krejsgaard T, Eriksen KW, Geisler C, Dabelsteen S, Gniadecki R, Zhang Q, Wasik MA, Woetmann A, Odum N
APMIS 2010 Oct;118(10):719-28. Epub 2010 Aug 19 doi: 10.1111/j.1600-0463.2010.02669.x. PMID: 20854465Free PMC Article

Prognosis

Abou-Fadel J, Qu Y, Gonzalez EM, Smith M, Zhang J
Oncol Rep 2020 Jun;43(6):1945-1963. Epub 2020 Mar 18 doi: 10.3892/or.2020.7550. PMID: 32186778Free PMC Article
Cohen CT, Bergstrom KL, Xiao R, Elghetany MT, Iacobas I, Sasa G
Int J Hematol 2019 Jul;110(1):95-101. Epub 2019 Mar 23 doi: 10.1007/s12185-019-02626-w. PMID: 30904992

Clinical prediction guides

Tang L, Zhou M, Xu Y, Peng B, Gao Y, Mo Y
Biochem Biophys Res Commun 2024 Mar 15;701:149525. Epub 2024 Jan 12 doi: 10.1016/j.bbrc.2024.149525. PMID: 38320423
Voss K, Stahl S, Hogan BM, Reinders J, Schleider E, Schulte-Merker S, Felbor U
Hum Mutat 2009 Jun;30(6):1003-11. doi: 10.1002/humu.20996. PMID: 19370760

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