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CMTC
MCID: CTS011
MIFTS: 34

Cutis Marmorata Telangiectatica Congenita (CMTC)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Cutis Marmorata Telangiectatica Congenita

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MalaCards integrated aliases for Cutis Marmorata Telangiectatica Congenita:

Name: Cutis Marmorata Telangiectatica Congenita 56 74 52 58
Cmtc 56 52 58
Hereditary Cutis Marmorata Telangiectatica Congenita 52
Van Lohuizen Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
cutis marmorata telangiectatica congenita
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cutis marmorata telangiectatica congenita:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Skin diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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Summaries for Cutis Marmorata Telangiectatica Congenita

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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
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Related Diseases for Cutis Marmorata Telangiectatica Congenita

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Diseases related to Cutis Marmorata Telangiectatica Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 12.6
2 adams-oliver syndrome 12.2
3 adams-oliver syndrome 1 12.0
4 adams-oliver syndrome 5 11.7
5 adams-oliver syndrome 6 11.7
6 charcot-marie-tooth disease, recessive intermediate c 11.5
7 charcot-marie-tooth disease, dominant intermediate c 11.5
8 telangiectasis 11.0
9 pik3ca-related segmental overgrowth 11.0
10 overgrowth syndrome 10.9
11 retinal detachment 10.8
12 chromosome 2q35 duplication syndrome 10.8
13 phacomatosis pigmentovascularis 10.8
14 oliver syndrome 10.8
15 hydrocephalus 10.8
16 intraocular pressure quantitative trait locus 10.8
17 hemangioma 10.8
18 lupus erythematosus 10.8
19 macrocephaly/megalencephaly syndrome, autosomal recessive 10.7
20 megalencephaly 10.7
21 polydactyly 10.7
22 skin atrophy 10.7
23 klippel-trenaunay-weber syndrome 10.6
24 retinoblastoma 10.6
25 hemihyperplasia, isolated 10.6
26 hypothyroidism 10.6
27 heart septal defect 10.6
28 atrial heart septal defect 10.6
29 retinal vascular disease 10.6
30 familial retinoblastoma 10.6
31 weber syndrome 10.6
32 aplasia cutis congenita, nonsyndromic 10.5
33 candidiasis, familial, 1 10.5
34 lipomatosis, multiple 10.5
35 dowling-degos disease 1 10.5
36 sturge-weber syndrome 10.5
37 anus, imperforate 10.5
38 patent ductus arteriosus 1 10.5
39 pleomorphic lipoma 10.5
40 clubfoot 10.5
41 neovascular glaucoma 10.5
42 mongolian spot 10.5
43 fibromatosis 10.5
44 lymphangiectasis 10.5
45 angiomatosis 10.5
46 atrial septal aneurysm 10.5
47 vitreoretinopathy 10.5
48 autoimmune disease 10.4
49 cardiac arrhythmia 10.4
50 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.4

Graphical network of the top 20 diseases related to Cutis Marmorata Telangiectatica Congenita:



Diseases related to Cutis Marmorata Telangiectatica Congenita
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Symptoms & Phenotypes for Cutis Marmorata Telangiectatica Congenita

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Human phenotypes related to Cutis Marmorata Telangiectatica Congenita:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arteriovenous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100026
2 abnormality of the upper limb 58 31 hallmark (90%) Very frequent (99-80%) HP:0002817
3 cutis marmorata 58 31 hallmark (90%) Very frequent (99-80%) HP:0000965
4 short lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006385
5 skin erosion 58 31 hallmark (90%) Very frequent (99-80%) HP:0200041
6 seizure 31 hallmark (90%) HP:0001250
7 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
8 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
9 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
10 leukocoria 58 31 frequent (33%) Frequent (79-30%) HP:0000555
11 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
13 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
14 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
15 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
16 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
17 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
18 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
19 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
20 purpura 58 31 occasional (7.5%) Occasional (29-5%) HP:0000979
21 arterial stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100545
22 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
23 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
24 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
25 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
26 asymmetric growth 58 31 occasional (7.5%) Occasional (29-5%) HP:0100555
27 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
28 blue nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100814
29 displacement of the urethral meatus 31 occasional (7.5%) HP:0100627
30 seizures 58 Very frequent (99-80%)
31 hypertension 31 HP:0000822
32 glaucoma 31 HP:0000501
33 subcutaneous hemorrhage 58 Very frequent (99-80%)
34 displacement of the external urethral meatus 58 Occasional (29-5%)
35 abnormality of the lower limb 58 Very frequent (99-80%)
36 abnormality of the skin 58 Very frequent (99-80%)
37 telangiectasia 31 HP:0001009
38 bowing of the legs 31 HP:0002979
39 cutis marmorata telangiectatica congenita 31 HP:0025107

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
hypertension

Limbs:
bowed legs
short leg
thin leg
tendinitis, stenosing

Misc:
skin lesions improve with age

Eyes:
leukocoria
congenital retinal detachment
neovascular glaucoma

Skin:
livedo reticularis
telangiectases
superficial ulceration
phlebectasia

Clinical features from OMIM:

219250
Sources

Drugs & Therapeutics for Cutis Marmorata Telangiectatica Congenita

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chart Review: Central Motor Conduction Time in Neurological Disorders Completed NCT03300856

Search NIH Clinical Center for Cutis Marmorata Telangiectatica Congenita

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Genetic Tests for Cutis Marmorata Telangiectatica Congenita

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Anatomical Context for Cutis Marmorata Telangiectatica Congenita

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MalaCards organs/tissues related to Cutis Marmorata Telangiectatica Congenita:

40
Skin, Bone, Kidney, Breast, Liver
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Publications for Cutis Marmorata Telangiectatica Congenita

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Articles related to Cutis Marmorata Telangiectatica Congenita:

(show top 50) (show all 264)
# Title Authors PMID Year
1
High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita. 56 61
18792971 2008
2
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. 61 56
12588390 2003
3
Cutis marmorata telangiectatica congenita and hypospadias: report of 4 cases. 56 61
11423849 2001
4
Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. 56 61
10792796 2000
5
Cutis marmorata telangiectatica congenita: clinical features in 35 cases. 56 61
9923778 1999
6
Leg length discrepancy associated with vivid cutis marmorata. 56 61
8370779 1993
7
Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. 56 61
8493172 1993
8
[Cutis marmorata telangiectatica congenita. Apropos of 4 new cases]. 61 56
1302325 1992
9
Cutis marmorata telangiectatica congenita. 56 61
1634290 1992
10
Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment. 56 61
2205894 1990
11
Cutis marmorata telangiectatica congenita: report of 22 cases. 56 61
2666459 1989
12
Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? 61 56
3354598 1988
13
Hereditary cutis marmorata telangiectatica congenita. 56 61
7088633 1982
14
Cutis mamorata telangiectatica congenita in two sisters. 61 56
508599 1979
15
Cutis marmorata telangiectatica congenita. 61 56
4220056 1974
16
Cutis marmorata telangiectatica congenita. 61 56
5416798 1970
17
Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation. 52 61
30297497 2018
18
Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy. 61
32522703 2020
19
Ophthalmologic alterations in cutis marmorata telangiectatica congenita: a series of cases. 61
32490982 2020
20
Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors. 61
32233697 2020
21
Cutis marmorata telangiectatica congenita: a diagnostic challenge. 61
29512977 2020
22
Cutis marmorata telangiectatica congenita-like lesion with fibrotic appearance. 61
31997445 2020
23
Longitudinal 16-year study of dominant intermediate CMT type C neuropathy. 61
31587308 2020
24
Cutis marmorata telangiectatica congenita: a literature review. 61
31801575 2019
25
Ocular Manifestations of Cutis Marmorata Telangiectatica Congenita. 61
31147303 2019
26
Image Gallery: Atrophic cutis marmorata telangiectatica congenita. 61
31243761 2019
27
[Syndromes with vascular skin anomalies]. 61
31111168 2019
28
Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients. 61
31148861 2019
29
[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita]. 61
30638685 2019
30
Cutis Marmorata Telangiectatica Congenita Presenting as a Fetal Hemothorax. 61
29791897 2019
31
A rare vascular lesion of newborn: cutis marmorata telangiectatica congenital. 61
31384150 2019
32
RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA. 61
27930432 2018
33
Cutis mormorata telangiectatica congenital successfully treated with intense pulsed light therapy: A case report. 61
29020473 2018
34
RETINAL NEOVASCULARIZATION FROM A PATIENT WITH CUTIS MARMORATA TELANGIECTATICA CONGENITA. 61
29543621 2018
35
Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation. 61
29280366 2018
36
Cutis marmorata telangiectatica congenita and major lower limb asymmetry. 61
29330270 2018
37
Effect of carboxymethylation on rheological and drug release characteristics of Terminalia catappa gum. 61
28917923 2017
38
Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. 61
29136059 2017
39
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 61
28160419 2017
40
Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model. 61
28469666 2017
41
Phacomatosis Cesioflammea with Cutis Marmorata-like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder? 61
28400644 2017
42
Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management. 61
27456075 2016
43
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. 61
28018470 2016
44
Cutis Marmorata Telangiectatica Congenita: Clinical Features in 7 Cases. 61
29906051 2016
45
A case of phakomatosis pigmentovascularis type II: port-wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita-like lesions. 61
26905386 2016
46
Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report. 61
27079404 2016
47
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. 61
26725087 2016
48
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. 61
27051820 2016
49
[Cutis marmorata telangiectatica congenita: Mutations in a susceptibility gene involved in cerebrovascular accidents]. 61
26708206 2016
50
Capillary malformations: a classification using specific names for specific skin disorders. 61
25864701 2015
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Variations for Cutis Marmorata Telangiectatica Congenita

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Expression for Cutis Marmorata Telangiectatica Congenita

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Search GEO for disease gene expression data for Cutis Marmorata Telangiectatica Congenita.
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Pathways for Cutis Marmorata Telangiectatica Congenita

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GO Terms for Cutis Marmorata Telangiectatica Congenita

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Sources for Cutis Marmorata Telangiectatica Congenita

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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