CMTC
MCID: CTS011
MIFTS: 34
|
Cutis Marmorata Telangiectatica Congenita (CMTC)
Categories:
Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases
|
|
MalaCards integrated aliases for Cutis Marmorata Telangiectatica Congenita:
Characteristics:Orphanet epidemiological data:58
cutis marmorata telangiectatica congenita
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Cardiovascular diseases Skin diseases Blood diseases
ICD10:
33
Orphanet: 58
![]() ![]() ![]() |
NIH Rare Diseases :
52
Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota ), small widened blood vessels under the skin (telangiectasia ) and varicose veins (phlebectasia). The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face is only rarely involved. CMTC usually only affects a specific area of the skin, although there have been a few cases of CMTC over the whole body. It may occasionally occur along with open sores (skin ulceration) or skin atrophy. The skin symptoms associated with CMTC generally improve with age. CMTC can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic (non-inherited ), although rare cases have been observed in families.
MalaCards based summary : Cutis Marmorata Telangiectatica Congenita, also known as cmtc, is related to megalencephaly-capillary malformation-polymicrogyria syndrome and adams-oliver syndrome. An important gene associated with Cutis Marmorata Telangiectatica Congenita is ARL6IP6 (ADP Ribosylation Factor Like GTPase 6 Interacting Protein 6). Affiliated tissues include skin, bone and kidney, and related phenotypes are arteriovenous malformation and abnormality of the upper limb Wikipedia : 74 Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests... more...
More information from OMIM:
219250
|
Human phenotypes related to Cutis Marmorata Telangiectatica Congenita:58 31 (show all 39)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:219250 |
Interventional clinical trials:
|
MalaCards organs/tissues related to Cutis Marmorata Telangiectatica Congenita:40
Skin,
Bone,
Kidney,
Breast,
Liver
|
Articles related to Cutis Marmorata Telangiectatica Congenita:(show top 50) (show all 264)
|
|
Search
GEO
for disease gene expression data for Cutis Marmorata Telangiectatica Congenita.
|
|
|