MCID: CTS011
MIFTS: 49

Cutis Marmorata Telangiectatica Congenita

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

Aliases & Classifications for Cutis Marmorata Telangiectatica Congenita

MalaCards integrated aliases for Cutis Marmorata Telangiectatica Congenita:

Name: Cutis Marmorata Telangiectatica Congenita 57 76 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:



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 cutis marmorata, telangiectasia, and phlebectasia (varicose vein). The skin findings most commonly occur on the legs, less commonly on the arms and trunk, and rarely do they involve the face and scalp. It is occasionally associated with skin ulceration or skin atrophy. The skin symptoms associated with classical 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 1. An important gene associated with Cutis Marmorata Telangiectatica Congenita is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are PI3K/AKT activation and Circadian entrainment. Affiliated tissues include skin, bone and kidney, and related phenotypes are finger syndactyly and hypothyroidism

Wikipedia : 76 Cutis marmorata telangiectatica congenita or CMTC is a rare congenital vascular disorder that usually... 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 53)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 31.2 AKT3 PIK3CA PIK3R2
2 adams-oliver syndrome 1 11.7
3 adams-oliver syndrome 11.7
4 adams-oliver syndrome 5 11.4
5 adams-oliver syndrome 6 11.4
6 charcot-marie-tooth disease, recessive intermediate c 11.2
7 charcot-marie-tooth disease, dominant intermediate c 11.1
8 phacomatosis pigmentovascularis 10.6
9 mongolian spot 10.5
10 glaucoma 3, primary congenital, a 10.4
11 oliver syndrome 10.4
12 retinitis 10.4
13 hydrocephalus 10.3
14 cerebritis 10.3
15 aplasia cutis congenita, nonsyndromic 10.2
16 nevus anemicus 10.2
17 retinal detachment 10.2
18 retinoblastoma 10.2
19 sturge-weber syndrome 10.2
20 anus, imperforate 10.2
21 myofibromatosis, infantile, 1 10.2
22 premature ovarian failure 1 10.2
23 polydactyly 10.2
24 cataract 10.2
25 hemangioma 10.2
26 hemophagocytic lymphohistiocytosis 10.2
27 congenital hypothyroidism 10.2
28 exudative vitreoretinopathy 10.2
29 porencephaly 10.2
30 hypospadias 10.2
31 hydronephrosis 10.2
32 hypothyroidism 10.2
33 urticaria 10.2
34 capillary hemangioma 10.2
35 conjunctivitis 10.2
36 lupus erythematosus 10.2
37 aplasia cutis congenita 10.2
38 diffuse dermal angiomatosis 10.2
39 fibromatosis 10.2
40 gigantism 10.2
41 neonatal hypothyroidism 10.2
42 weber syndrome 10.2
43 aneurysm 10.2
44 angiomatosis 10.2
45 nevus of ota 10.2
46 neonatal lupus erythematosus 10.2
47 atrial septal aneurysm 10.2
48 hemimegalencephaly 9.6 AKT3 PIK3CA
49 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 9.3 AKT3 PIK3R2
50 female reproductive organ cancer 9.2 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

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

Human phenotypes related to Cutis Marmorata Telangiectatica Congenita:

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

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 PIK3R2 PIK3CA
4 Decreased viability GR00221-A-2 10.03 AKT3 PIK3R2 PIK3CA
5 Decreased viability GR00221-A-3 10.03 AKT3
6 Decreased viability GR00221-A-4 10.03 AKT3 PIK3R2 PIK3CA
7 Decreased viability GR00301-A 10.03 PIK3R2 AKT3
8 Decreased viability GR00402-S-2 10.03 PIK3R2 PIK3CA AKT3
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:

41
Skin, Bone, Kidney, Breast

Publications for Cutis Marmorata Telangiectatica Congenita

Articles related to Cutis Marmorata Telangiectatica Congenita:

(show top 50) (show all 130)
# Title Authors Year
1
Cutis Marmorata Telangiectatica Congenita: a diagnostic challenge. ( 29512977 )
2018
2
Cutis Marmorata Telangiectatica Congenita Presenting as a Fetal Hemothorax. ( 29791897 )
2018
3
Cutis marmorata telangiectatica congenita and major lower limb asymmetry. ( 29330270 )
2018
4
RETINAL NEOVASCULARIZATION FROM A PATIENT WITH CUTIS MARMORATA TELANGIECTATICA CONGENITA. ( 29543621 )
2018
5
Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. ( 29136059 )
2017
6
RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA. ( 27930432 )
2016
7
Cutis Marmorata Telangiectatica Congenita: Clinical Features in 7 Cases. ( 29906051 )
2016
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
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
11
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. ( 25957586 )
2015
12
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
13
Strokelike Episodes and Cutis Marmorata Telangiectatica Congenita. ( 24525998 )
2014
14
Cutis marmorata telangiectatica congenita in a preterm female newborn: case report and review of the literature. ( 25573706 )
2014
15
Cutis marmorata telangiectatica congenita. ( 24616866 )
2014
16
Cutis marmorata telangiectatica congenita restricted to both breasts in a young female. ( 25126469 )
2014
17
Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body. ( 24243754 )
2014
18
Limb length discrepancy in cutis marmorata telangiectatica congenita: an audit of assessment and management in a multidisciplinary setting. ( 24641785 )
2014
19
Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita. ( 23758322 )
2013
20
Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions. ( 23793203 )
2013
21
Cutis marmorata telangiectatica congenita. ( 24404536 )
2013
22
Focal and atrophic cutis marmorata telangiectatica congenita. ( 24124860 )
2013
23
Characteristic congenital reticular erythema: cutis marmorata telangiectatica congenita. ( 23623530 )
2013
24
Cutis marmorata telangiectatica congenita in a preterm newborn - Case report and literature review. ( 23115721 )
2012
25
Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita. ( 22455534 )
2012
26
Cutis marmorata telangiectatica congenita: a mimicker of a common disorder. ( 21220441 )
2011
27
Diffuse dermal angiomatosis arising in cutis marmorata telangiectatica congenita. ( 21079080 )
2010
28
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. ( 19763591 )
2010
29
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
30
Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita. ( 19795974 )
2009
31
Apnea and macrocephaly-cutis marmorata telangiectatica congenita. ( 19041204 )
2009
32
Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. ( 19196300 )
2009
33
Macrocephaly-cutis marmorata telangiectatica congenita. ( 19106044 )
2009
34
Neonatal lupus erythematosus and cutis marmorata telangiectatica congenita-like lesions. ( 20064177 )
2009
35
Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. ( 20101343 )
2009
36
Cutis marmorata telangiectatica congenita manifesting as port-wine stain at birth. ( 18705838 )
2008
37
Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case. ( 18978660 )
2008
38
Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata". ( 18573710 )
2008
39
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. ( 18342719 )
2008
40
Systemic abnormalities associated with cutis marmorata telangiectatica congenita. ( 18239255 )
2008
41
An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. ( 17355231 )
2007
42
Late-onset pediatric glaucoma associated with cutis marmorata telangiectatica congenita managed with Molteno implant surgery: case report and review of the literature. ( 17524689 )
2007
43
Cutis marmorata telangiectatica congenita and neonatal lupus. ( 17542891 )
2007
44
Macrocephaly-cutis marmorata telangiectatica congenita. ( 17465363 )
2007
45
Cutis marmorata telangiectatica congenita. ( 18057441 )
2007
46
Cutis marmorata telangiectatica congenita and chronic autoimmune urticaria in a young man. ( 17291305 )
2007
47
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). ( 17963258 )
2007
48
Lumbar sympathetic blockade in a patient with cutis marmorata telangiectatica congenita. ( 17121565 )
2006
49
Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita. ( 17106557 )
2006
50
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). ( 16503893 )
2006

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 105)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 AKT3 PIK3CA PIK3R2
2
Show member pathways
12.82 AKT3 PIK3CA PIK3R2
3
Show member pathways
12.8 AKT3 PIK3CA PIK3R2
4
Show member pathways
12.77 AKT3 PIK3CA PIK3R2
5
Show member pathways
12.72 AKT3 PIK3CA PIK3R2
6
Show member pathways
12.71 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
12.69 AKT3 PIK3CA PIK3R2
10
Show member pathways
12.68 AKT3 PIK3CA PIK3R2
11
Show member pathways
12.68 AKT3 PIK3CA PIK3R2
12 12.65 AKT3 PIK3CA PIK3R2
13
Show member pathways
12.63 AKT3 PIK3CA PIK3R2
14
Show member pathways
12.62 AKT3 PIK3CA PIK3R2
15
Show member pathways
12.6 AKT3 PIK3CA PIK3R2
16
Show member pathways
12.59 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
12.55 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
12.5 AKT3 PIK3CA PIK3R2
23
Show member pathways
12.45 AKT3 PIK3CA PIK3R2
24
Show member pathways
12.45 AKT3 PIK3CA PIK3R2
25
Show member pathways
12.44 AKT3 PIK3CA PIK3R2
26
Show member pathways
12.43 AKT3 PIK3CA PIK3R2
27
Show member pathways
12.43 AKT3 PIK3CA PIK3R2
28
Show member pathways
12.39 AKT3 PIK3CA PIK3R2
29
Show member pathways
12.36 AKT3 PIK3CA PIK3R2
30
Show member pathways
12.35 AKT3 PIK3CA PIK3R2
31
Show member pathways
12.34 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
12.29 AKT3 PIK3CA PIK3R2
36 12.29 AKT3 PIK3CA PIK3R2
37
Show member pathways
12.28 AKT3 PIK3CA PIK3R2
38
Show member pathways
12.27 AKT3 PIK3CA PIK3R2
39
Show member pathways
12.26 AKT3 PIK3CA PIK3R2
40
Show member pathways
12.24 AKT3 PIK3CA PIK3R2
41
Show member pathways
12.21 AKT3 PIK3CA PIK3R2
42
Show member pathways
12.19 AKT3 PIK3CA PIK3R2
43
Show member pathways
12.18 AKT3 PIK3CA PIK3R2
44
Show member pathways
12.16 AKT3 PIK3CA PIK3R2
45 12.16 AKT3 PIK3CA PIK3R2
46 12.15 AKT3 PIK3CA PIK3R2
47
Show member pathways
12.08 AKT3 PIK3CA PIK3R2
48
Show member pathways
12.08 AKT3 PIK3CA PIK3R2
49
Show member pathways
12.04 AKT3 PIK3CA PIK3R2
50 12.03 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 9.43 PIK3CA PIK3R2
2 phosphatidylinositol phosphorylation GO:0046854 9.4 PIK3CA PIK3R2
3 phosphatidylinositol biosynthetic process GO:0006661 9.37 PIK3CA PIK3R2
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.32 PIK3CA PIK3R2
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.26 PIK3CA PIK3R2
6 phosphatidylinositol-mediated signaling GO:0048015 9.16 PIK3CA PIK3R2
7 positive regulation of TOR signaling GO:0032008 8.96 AKT3 PIK3CA
8 phosphatidylinositol 3-kinase signaling GO:0014065 8.62 PIK3CA PIK3R2

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 8.96 PIK3CA PIK3R2
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.62 PIK3CA PIK3R2

Sources for Cutis Marmorata Telangiectatica Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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