CMTC
MCID: CTS011
MIFTS: 49

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 58 77 54 60
Cmtc 58 54 60
Hereditary Cutis Marmorata Telangiectatica Congenita 54
Van Lohuizen Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
cutis marmorata telangiectatica congenita
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cutis marmorata telangiectatica congenita:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cutis Marmorata Telangiectatica Congenita

NIH Rare Diseases : 54 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), 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 : 77 Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests... more...

Description 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 55)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 32.5 AKT3 PIK3CA PIK3R2
2 adams-oliver syndrome 11.9
3 adams-oliver syndrome 1 11.6
4 adams-oliver syndrome 5 11.6
5 adams-oliver syndrome 6 11.6
6 charcot-marie-tooth disease, recessive intermediate c 11.4
7 charcot-marie-tooth disease, dominant intermediate c 11.3
8 phacomatosis pigmentovascularis 10.8
9 glaucoma 3, primary congenital, a 10.6
10 oliver syndrome 10.6
11 hydrocephalus 10.5
12 mongolian spot 10.5
13 congenital hydrocephalus 10.5
14 nevus anemicus 10.4
15 retinal detachment 10.4
16 retinoblastoma 10.4
17 sturge-weber syndrome 10.4
18 anus, imperforate 10.4
19 myofibromatosis, infantile, 1 10.4
20 premature ovarian failure 1 10.4
21 polydactyly 10.4
22 cataract 10.4
23 hemangioma 10.4
24 hemophagocytic lymphohistiocytosis 10.4
25 congenital hypothyroidism 10.4
26 exudative vitreoretinopathy 10.4
27 porencephaly 10.4
28 hypospadias 10.4
29 hydronephrosis 10.4
30 hypothyroidism 10.4
31 urticaria 10.4
32 capillary hemangioma 10.4
33 lupus erythematosus 10.4
34 aplasia cutis congenita 10.4
35 diffuse dermal angiomatosis 10.4
36 fibromatosis 10.4
37 gigantism 10.4
38 lymphangiectasis 10.4
39 weber syndrome 10.4
40 nevus of ota 10.4
41 neonatal lupus erythematosus 10.4
42 atrial septal aneurysm 10.4
43 vascular disease 10.1
44 hemimegalencephaly 9.9 AKT3 PIK3CA
45 nevus, epidermal 9.8 AKT3 PIK3CA
46 uterine body mixed cancer 9.8 PIK3CA PIK3R2
47 polymicrogyria 9.8 AKT3 PIK3R2
48 uterine corpus cancer 9.8 PIK3CA PIK3R2
49 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 9.7 AKT3 PIK3R2
50 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 9.7 PIK3CA PIK3R2

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:

60 33 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 arteriovenous malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100026
3 abnormality of the upper limb 60 33 hallmark (90%) Very frequent (99-80%) HP:0002817
4 cutis marmorata 60 33 hallmark (90%) Very frequent (99-80%) HP:0000965
5 short lower limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006385
6 skin erosion 60 33 hallmark (90%) Very frequent (99-80%) HP:0200041
7 telangiectasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0100585
8 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
9 aplasia/hypoplasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008065
10 leukocoria 60 33 frequent (33%) Frequent (79-30%) HP:0000555
11 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
12 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
13 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
14 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
15 ascites 60 33 occasional (7.5%) Occasional (29-5%) HP:0001541
16 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
17 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
18 reduced bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004349
19 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
20 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
21 multiple cafe-au-lait spots 60 33 occasional (7.5%) Occasional (29-5%) HP:0007565
22 purpura 60 33 occasional (7.5%) Occasional (29-5%) HP:0000979
23 arterial stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100545
24 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
25 oral cleft 60 33 occasional (7.5%) Occasional (29-5%) HP:0000202
26 asymmetric growth 60 33 occasional (7.5%) Occasional (29-5%) HP:0100555
27 blue nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0100814
28 capillary hemangioma 33 occasional (7.5%) HP:0005306
29 displacement of the urethral meatus 33 occasional (7.5%) HP:0100627
30 hypertension 33 HP:0000822
31 glaucoma 33 HP:0000501
32 capillary hemangiomas 60 Occasional (29-5%)
33 subcutaneous hemorrhage 60 Very frequent (99-80%)
34 displacement of the external urethral meatus 60 Occasional (29-5%)
35 abnormality of the lower limb 60 Very frequent (99-80%)
36 abnormality of the skin 60 Very frequent (99-80%)
37 telangiectasia 33 HP:0001009
38 bowing of the legs 33 HP:0002979
39 cutis marmorata telangiectatica congenita 33 HP:0025107

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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

Search Clinical Trials , 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:

42
Skin, Bone, Kidney, Breast

Publications for Cutis Marmorata Telangiectatica Congenita

Articles related to Cutis Marmorata Telangiectatica Congenita:

(show top 50) (show all 137)
# Title Authors Year
1
Cutis Marmorata Telangiectatica Congenita Presenting as a Fetal Hemothorax. ( 29791897 )
2019
2
RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA. ( 27930432 )
2018
3
Cutis marmorata telangiectatica congenita and major lower limb asymmetry. ( 29330270 )
2018
4
Cutis Marmorata Telangiectatica Congenita: a diagnostic challenge. ( 29512977 )
2018
5
RETINAL NEOVASCULARIZATION FROM A PATIENT WITH CUTIS MARMORATA TELANGIECTATICA CONGENITA. ( 29543621 )
2018
6
Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation. ( 30297497 )
2018
7
Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. ( 29136059 )
2017
8
A case of phakomatosis pigmentovascularis type II: port-wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita-like lesions. ( 26905386 )
2016
9
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. ( 27051820 )
2016
10
Cutis Marmorata Telangiectatica Congenita: Clinical Features in 7 Cases. ( 29906051 )
2016
11
Strokelike episodes and cutis marmorata telangiectatica congenita. ( 24525998 )
2015
12
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. ( 25957586 )
2015
13
Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita. ( 26104843 )
2015
14
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. ( 26312661 )
2015
15
Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body. ( 24243754 )
2014
16
Cutis marmorata telangiectatica congenita. ( 24616866 )
2014
17
Limb length discrepancy in cutis marmorata telangiectatica congenita: an audit of assessment and management in a multidisciplinary setting. ( 24641785 )
2014
18
Cutis marmorata telangiectatica congenita restricted to both breasts in a young female. ( 25126469 )
2014
19
Cutis marmorata telangiectatica congenita in a preterm female newborn: case report and review of the literature. ( 25573706 )
2014
20
Characteristic congenital reticular erythema: cutis marmorata telangiectatica congenita. ( 23623530 )
2013
21
Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita. ( 23758322 )
2013
22
Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions. ( 23793203 )
2013
23
Focal and atrophic cutis marmorata telangiectatica congenita. ( 24124860 )
2013
24
Cutis marmorata telangiectatica congenita. ( 24404536 )
2013
25
Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita. ( 22455534 )
2012
26
Cutis marmorata telangiectatica congenita in a preterm newborn - Case report and literature review. ( 23115721 )
2012
27
Cutis marmorata telangiectatica congenita: a mimicker of a common disorder. ( 21220441 )
2011
28
Synthesis, growth and characterization of cadmium manganese thiocyanate (CMTC) crystal. ( 21640636 )
2011
29
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. ( 19763591 )
2010
30
Diffuse dermal angiomatosis arising in cutis marmorata telangiectatica congenita. ( 21079080 )
2010
31
Apnea and macrocephaly-cutis marmorata telangiectatica congenita. ( 19041204 )
2009
32
Macrocephaly-cutis marmorata telangiectatica congenita. ( 19106044 )
2009
33
Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. ( 19196300 )
2009
34
The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. ( 19289759 )
2009
35
Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita. ( 19795974 )
2009
36
Neonatal lupus erythematosus and cutis marmorata telangiectatica congenita-like lesions. ( 20064177 )
2009
37
Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. ( 20101343 )
2009
38
Systemic abnormalities associated with cutis marmorata telangiectatica congenita. ( 18239255 )
2008
39
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. ( 18342719 )
2008
40
Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata". ( 18573710 )
2008
41
Cutis marmorata telangiectatica congenita manifesting as port-wine stain at birth. ( 18705838 )
2008
42
Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case. ( 18978660 )
2008
43
Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease. ( 18035989 )
2007
44
Cutis marmorata telangiectatica congenita and chronic autoimmune urticaria in a young man. ( 17291305 )
2007
45
An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. ( 17355231 )
2007
46
Macrocephaly-cutis marmorata telangiectatica congenita. ( 17465363 )
2007
47
Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases. ( 17465364 )
2007
48
Late-onset pediatric glaucoma associated with cutis marmorata telangiectatica congenita managed with Molteno implant surgery: case report and review of the literature. ( 17524689 )
2007
49
Cutis marmorata telangiectatica congenita and neonatal lupus. ( 17542891 )
2007
50
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). ( 17963258 )
2007

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

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 PIK3CA PIK3R2

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 PIK3CA PIK3R2
2 T cell receptor signaling pathway GO:0050852 9.43 PIK3CA PIK3R2
3 Fc-epsilon receptor signaling pathway GO:0038095 9.4 PIK3CA PIK3R2
4 phosphatidylinositol phosphorylation GO:0046854 9.37 PIK3CA PIK3R2
5 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.32 PIK3CA PIK3R2
6 phosphatidylinositol-mediated signaling GO:0048015 9.16 PIK3CA PIK3R2
7 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.96 PIK3CA
8 phosphatidylinositol 3-kinase signaling GO:0014065 8.96 PIK3CA PIK3R2
9 positive regulation of TOR signaling GO:0032008 8.62 AKT3 PIK3CA

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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