CMTC
MCID: CTS011
MIFTS: 45

Cutis Marmorata Telangiectatica Congenita (CMTC)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cutis Marmorata Telangiectatica Congenita

MalaCards integrated aliases for Cutis Marmorata Telangiectatica Congenita:

Name: Cutis Marmorata Telangiectatica Congenita 57 75 53 59
Cmtc 57 53 59
Hereditary Cutis Marmorata Telangiectatica Congenita 53
Van Lohuizen Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
cutis marmorata telangiectatica congenita
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cutis marmorata telangiectatica congenita:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 219250
MESH via Orphanet 45 C536226
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0345419
Orphanet 59 ORPHA1556
MedGen 42 C0345419

Summaries for Cutis Marmorata Telangiectatica Congenita

NIH Rare Diseases : 53 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 hemimegalencephaly. An important gene associated with Cutis Marmorata Telangiectatica Congenita is ARL6IP6 (ADP Ribosylation Factor Like GTPase 6 Interacting Protein 6), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Circadian entrainment. Affiliated tissues include skin, bone and kidney, and related phenotypes are seizures and arteriovenous malformation

Wikipedia : 75 Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests... more...

More information from OMIM: 219250

Related Diseases for Cutis Marmorata Telangiectatica Congenita

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

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 32.7 PIK3R2 PIK3CA AKT3
2 hemimegalencephaly 30.3 PIK3CA AKT3
3 megalencephaly 29.8 PIK3R2 PIK3CA AKT3
4 adams-oliver syndrome 12.2
5 adams-oliver syndrome 1 12.0
6 adams-oliver syndrome 5 11.7
7 adams-oliver syndrome 6 11.7
8 charcot-marie-tooth disease, recessive intermediate c 11.5
9 charcot-marie-tooth disease, dominant intermediate c 11.5
10 telangiectasis 11.0
11 pik3ca-related segmental overgrowth 11.0
12 overgrowth syndrome 10.9
13 retinal detachment 10.8
14 chromosome 2q35 duplication syndrome 10.8
15 phacomatosis pigmentovascularis 10.8
16 oliver syndrome 10.8
17 hydrocephalus 10.8
18 congenital hydrocephalus 10.8
19 intraocular pressure quantitative trait locus 10.8
20 hemangioma 10.8
21 lupus erythematosus 10.8
22 macrocephaly/megalencephaly syndrome, autosomal recessive 10.7
23 polydactyly 10.7
24 skin atrophy 10.7
25 klippel-trenaunay-weber syndrome 10.6
26 capillary malformations, congenital 10.6
27 polydactyly, postaxial, type a1 10.6
28 retinoblastoma 10.6
29 hemihyperplasia, isolated 10.6
30 hypothyroidism 10.6
31 heart septal defect 10.6
32 atrial heart septal defect 10.6
33 retinal vascular disease 10.6
34 familial retinoblastoma 10.6
35 weber syndrome 10.6
36 candidiasis, familial, 1 10.5
37 lipomatosis, multiple 10.5
38 dowling-degos disease 1 10.5
39 sturge-weber syndrome 10.5
40 anus, imperforate 10.5
41 patent ductus arteriosus 1 10.5
42 pleomorphic lipoma 10.5
43 neovascular glaucoma 10.5
44 mongolian spot 10.5
45 aplasia cutis congenita 10.5
46 fibromatosis 10.5
47 lymphangiectasis 10.5
48 talipes equinovarus 10.5
49 angiomatosis 10.5
50 atrial septal aneurysm 10.5

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



Diseases related to Cutis Marmorata Telangiectatica Congenita

Symptoms & Phenotypes for Cutis Marmorata Telangiectatica Congenita

Human phenotypes related to Cutis Marmorata Telangiectatica Congenita:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
3 abnormality of the upper limb 59 32 hallmark (90%) Very frequent (99-80%) HP:0002817
4 cutis marmorata 59 32 hallmark (90%) Very frequent (99-80%) HP:0000965
5 short lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006385
6 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
7 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
8 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
9 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
10 leukocoria 59 32 frequent (33%) Frequent (79-30%) HP:0000555
11 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
12 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
13 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
14 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
15 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
16 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
17 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
18 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
19 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
20 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
21 capillary hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005306
22 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
23 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
24 arterial stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100545
25 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
26 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
27 asymmetric growth 59 32 occasional (7.5%) Occasional (29-5%) HP:0100555
28 blue nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100814
29 displacement of the urethral meatus 32 occasional (7.5%) HP:0100627
30 hypertension 32 HP:0000822
31 glaucoma 32 HP:0000501
32 subcutaneous hemorrhage 59 Very frequent (99-80%)
33 displacement of the external urethral meatus 59 Occasional (29-5%)
34 abnormality of the lower limb 59 Very frequent (99-80%)
35 abnormality of the skin 59 Very frequent (99-80%)
36 telangiectasia 32 HP:0001009
37 bowing of the legs 32 HP:0002979
38 cutis marmorata telangiectatica congenita 32 HP:0025107

Symptoms via clinical synopsis from OMIM:

57
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

GenomeRNAi Phenotypes related to Cutis Marmorata Telangiectatica Congenita according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.03 PIK3CA
2 Decreased viability GR00173-A 10.03 PIK3R2
3 Decreased viability GR00221-A-1 10.03 AKT3 PIK3CA PIK3R2
4 Decreased viability GR00221-A-2 10.03 AKT3 PIK3CA PIK3R2
5 Decreased viability GR00221-A-3 10.03 AKT3
6 Decreased viability GR00221-A-4 10.03 AKT3 PIK3CA PIK3R2
7 Decreased viability GR00301-A 10.03 AKT3 PIK3R2
8 Decreased viability GR00402-S-2 10.03 AKT3 PIK3CA PIK3R2
9 Decreased cell migration GR00055-A-1 9.13 AKT3 PIK3CA PIK3R2

Drugs & Therapeutics for Cutis Marmorata Telangiectatica Congenita

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

Genetic Tests for Cutis Marmorata Telangiectatica Congenita

Anatomical Context for Cutis Marmorata Telangiectatica Congenita

MalaCards organs/tissues related to Cutis Marmorata Telangiectatica Congenita:

41
Skin, Bone, Kidney, Breast, Liver

Publications for Cutis Marmorata Telangiectatica Congenita

Articles related to Cutis Marmorata Telangiectatica Congenita:

(show top 50) (show all 258)
# Title Authors PMID Year
1
High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita. 38 8
18792971 2008
2
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. 38 8
12588390 2003
3
Cutis marmorata telangiectatica congenita and hypospadias: report of 4 cases. 38 8
11423849 2001
4
Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. 38 8
10792796 2000
5
Cutis marmorata telangiectatica congenita: clinical features in 35 cases. 38 8
9923778 1999
6
Leg length discrepancy associated with vivid cutis marmorata. 38 8
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. 38 8
8493172 1993
8
[Cutis marmorata telangiectatica congenita. Apropos of 4 new cases]. 38 8
1302325 1992
9
Cutis marmorata telangiectatica congenita. 38 8
1634290 1992
10
Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment. 38 8
2205894 1990
11
Cutis marmorata telangiectatica congenita: report of 22 cases. 38 8
2666459 1989
12
Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? 38 8
3354598 1988
13
Hereditary cutis marmorata telangiectatica congenita. 38 8
7088633 1982
14
Cutis mamorata telangiectatica congenita in two sisters. 38 8
508599 1979
15
Cutis marmorata telangiectatica congenita. 38 8
4220056 1974
16
Cutis marmorata telangiectatica congenita. 38 8
5416798 1970
17
Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation. 38 6
30297497 2018
18
Image Gallery: Atrophic cutis marmorata telangiectatica congenita. 38
31243761 2019
19
[Syndromes with vascular skin anomalies]. 38
31111168 2019
20
Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients. 38
31148861 2019
21
Ocular Manifestations of Cutis Marmorata Telangiectatica Congenita. 38
31147303 2019
22
[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita]. 38
30638685 2019
23
Cutis Marmorata Telangiectatica Congenita Presenting as a Fetal Hemothorax. 38
29791897 2019
24
A rare vascular lesion of newborn: cutis marmorata telangiectatica congenital. 38
31384150 2019
25
RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA. 38
27930432 2018
26
Cutis mormorata telangiectatica congenital successfully treated with intense pulsed light therapy: A case report. 38
29020473 2018
27
Cutis Marmorata Telangiectatica Congenita: a diagnostic challenge. 38
29512977 2018
28
RETINAL NEOVASCULARIZATION FROM A PATIENT WITH CUTIS MARMORATA TELANGIECTATICA CONGENITA. 38
29543621 2018
29
Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation. 38
29280366 2018
30
Cutis marmorata telangiectatica congenita and major lower limb asymmetry. 38
29330270 2018
31
Effect of carboxymethylation on rheological and drug release characteristics of Terminalia catappa gum. 38
28917923 2017
32
Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. 38
29136059 2017
33
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 38
28160419 2017
34
Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model. 38
28469666 2017
35
Phacomatosis Cesioflammea with Cutis Marmorata-like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder? 38
28400644 2017
36
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea. 38
28018470 2016
37
Cutis Marmorata Telangiectatica Congenita: Clinical Features in 7 Cases. 38
29906051 2016
38
Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management. 38
27456075 2016
39
A case of phakomatosis pigmentovascularis type II: port-wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita-like lesions. 38
26905386 2016
40
Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report. 38
27079404 2016
41
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. 38
26725087 2016
42
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. 38
27051820 2016
43
[Cutis marmorata telangiectatica congenita: Mutations in a susceptibility gene involved in cerebrovascular accidents]. 38
26708206 2016
44
Capillary malformations: a classification using specific names for specific skin disorders. 38
25864701 2015
45
Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita. 38
26104843 2015
46
Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations. 38
26437284 2015
47
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. 38
25957586 2015
48
Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma. 38
26131807 2015
49
Red-white and blue baby: a case of phacomatosis pigmentovascularis type V. 38
26158369 2015
50
The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis. 38
26312661 2015

Variations for Cutis Marmorata Telangiectatica Congenita

Expression for Cutis Marmorata Telangiectatica Congenita

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

Pathways for Cutis Marmorata Telangiectatica Congenita

Pathways related to Cutis Marmorata Telangiectatica Congenita according to GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 PIK3R2 PIK3CA AKT3
2
Show member pathways
12.82 PIK3R2 PIK3CA AKT3
3
Show member pathways
12.78 PIK3R2 PIK3CA AKT3
4
Show member pathways
12.75 PIK3R2 PIK3CA AKT3
5
Show member pathways
12.74 PIK3R2 PIK3CA AKT3
6
Show member pathways
12.72 PIK3R2 PIK3CA AKT3
7
Show member pathways
12.71 PIK3R2 PIK3CA AKT3
8
Show member pathways
12.71 PIK3R2 PIK3CA AKT3
9
Show member pathways
12.7 PIK3R2 PIK3CA AKT3
10
Show member pathways
12.68 PIK3R2 PIK3CA AKT3
11
Show member pathways
12.68 PIK3R2 PIK3CA AKT3
12 12.66 PIK3R2 PIK3CA AKT3
13
Show member pathways
12.64 PIK3R2 PIK3CA AKT3
14
Show member pathways
12.61 PIK3R2 PIK3CA AKT3
15
Show member pathways
12.6 PIK3R2 PIK3CA AKT3
16
Show member pathways
12.57 PIK3R2 PIK3CA AKT3
17
Show member pathways
12.57 PIK3R2 PIK3CA AKT3
18
Show member pathways
12.55 PIK3R2 PIK3CA AKT3
19
Show member pathways
12.53 PIK3R2 PIK3CA AKT3
20
Show member pathways
12.51 PIK3R2 PIK3CA AKT3
21
Show member pathways
12.5 PIK3R2 PIK3CA AKT3
22
Show member pathways
12.48 PIK3R2 PIK3CA AKT3
23
Show member pathways
12.46 PIK3R2 PIK3CA AKT3
24
Show member pathways
12.45 PIK3R2 PIK3CA AKT3
25
Show member pathways
12.45 PIK3R2 PIK3CA AKT3
26
Show member pathways
12.44 PIK3R2 PIK3CA AKT3
27
Show member pathways
12.43 PIK3R2 PIK3CA AKT3
28
Show member pathways
12.42 PIK3R2 PIK3CA AKT3
29
Show member pathways
12.37 PIK3R2 PIK3CA AKT3
30
Show member pathways
12.35 PIK3R2 PIK3CA AKT3
31
Show member pathways
12.31 PIK3R2 PIK3CA AKT3
32
Show member pathways
12.31 PIK3R2 PIK3CA AKT3
33
Show member pathways
12.3 PIK3R2 PIK3CA AKT3
34
Show member pathways
12.28 PIK3R2 PIK3CA AKT3
35
Show member pathways
12.27 PIK3R2 PIK3CA AKT3
36
Show member pathways
12.27 PIK3R2 PIK3CA AKT3
37
Show member pathways
12.26 PIK3R2 PIK3CA AKT3
38
Show member pathways
12.26 PIK3R2 PIK3CA AKT3
39
Show member pathways
12.26 PIK3R2 PIK3CA AKT3
40 12.22 PIK3R2 PIK3CA AKT3
41
Show member pathways
12.22 PIK3R2 PIK3CA AKT3
42
Show member pathways
12.19 PIK3R2 PIK3CA AKT3
43
Show member pathways
12.19 PIK3R2 PIK3CA AKT3
44 12.19 PIK3R2 PIK3CA AKT3
45
Show member pathways
12.18 PIK3R2 PIK3CA AKT3
46 12.16 PIK3R2 PIK3CA AKT3
47
Show member pathways
12.08 PIK3R2 PIK3CA AKT3
48
Show member pathways
12.08 PIK3R2 PIK3CA AKT3
49
Show member pathways
12.08 PIK3R2 PIK3CA AKT3
50
Show member pathways
12.06 PIK3R2 PIK3CA AKT3

GO Terms for Cutis Marmorata Telangiectatica Congenita

Cellular components related to Cutis Marmorata Telangiectatica Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3R2 PIK3CA

Biological processes related to Cutis Marmorata Telangiectatica Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.46 PIK3R2 PIK3CA
2 T cell receptor signaling pathway GO:0050852 9.43 PIK3R2 PIK3CA
3 Fc-epsilon receptor signaling pathway GO:0038095 9.4 PIK3R2 PIK3CA
4 phosphatidylinositol phosphorylation GO:0046854 9.37 PIK3R2 PIK3CA
5 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.32 PIK3R2 PIK3CA
6 phosphatidylinositol-mediated signaling GO:0048015 9.16 PIK3R2 PIK3CA
7 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.96 PIK3CA
8 phosphatidylinositol 3-kinase signaling GO:0014065 8.96 PIK3R2 PIK3CA
9 positive regulation of TOR signaling GO:0032008 8.62 PIK3CA AKT3

Molecular functions related to Cutis Marmorata Telangiectatica Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.65 PIK3CA
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.32 PIK3CA

Sources for Cutis Marmorata Telangiectatica Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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