MCID: CTS011
MIFTS: 36

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 53 72 49 55
Cmtc 53 49 55
Hereditary Cutis Marmorata Telangiectatica Congenita 49
Van Lohuizen Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
cutis marmorata telangiectatica congenita
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
cutis marmorata telangiectatica congenita:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cutis Marmorata Telangiectatica Congenita

NIH Rare Diseases : 49 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. Last updated: 7/17/2015

MalaCards based summary : Cutis Marmorata Telangiectatica Congenita, also known as cmtc, is related to megalencephaly-capillary malformation-polymicrogyria syndrome and adams-oliver syndrome 1, and has symptoms including seizures, finger syndactyly and hypothyroidism. 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.

Wikipedia : 72 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 all 46)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-capillary malformation-polymicrogyria syndrome 12.0
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 mongolian spot 10.5
9 tièche-jadassohn nevus 10.5
10 phacomatosis pigmentovascularis 10.5
11 oliver syndrome 10.4
12 hydrocephalus 10.3
13 cerebritis 10.3
14 retinitis 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 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
25 cataract 10.2
26 hemangioma 10.2
27 hemophagocytic lymphohistiocytosis 10.2
28 congenital hypothyroidism 10.2
29 exudative vitreoretinopathy 10.2
30 porencephaly 10.2
31 hypospadias 10.2
32 hydronephrosis 10.2
33 hypothyroidism 10.2
34 urticaria 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 weber syndrome 10.2
42 aneurysm 10.2
43 angiomatosis 10.2
44 nevus of ota 10.2
45 neonatal lupus erythematosus 10.2
46 atrial septal aneurysm 10.2

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:

53
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:

55 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
3 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
4 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
5 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
6 ascites 55 31 occasional (7.5%) Occasional (29-5%) HP:0001541
7 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
8 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
9 reduced bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004349
10 arteriovenous malformation 55 31 hallmark (90%) Very frequent (99-80%) HP:0100026
11 intrauterine growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001511
12 telangiectasia of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0100585
13 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
14 retinal detachment 55 31 frequent (33%) Frequent (79-30%) HP:0000541
15 capillary hemangiomas 55 31 occasional (7.5%) Occasional (29-5%) HP:0005306
16 multiple cafe-au-lait spots 55 31 occasional (7.5%) Occasional (29-5%) HP:0007565
17 aplasia/hypoplasia of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0008065
18 purpura 55 31 occasional (7.5%) Occasional (29-5%) HP:0000979
19 arterial stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100545
20 abnormality of the upper limb 55 31 hallmark (90%) Very frequent (99-80%) HP:0002817
21 toe syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001770
22 displacement of the external urethral meatus 55 31 occasional (7.5%) Occasional (29-5%) HP:0100627
23 oral cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0000202
24 asymmetric growth 55 31 occasional (7.5%) Occasional (29-5%) HP:0100555
25 cutis marmorata 55 31 hallmark (90%) Very frequent (99-80%) HP:0000965
26 leukocoria 55 31 frequent (33%) Frequent (79-30%) HP:0000555
27 short lower limbs 55 31 hallmark (90%) Very frequent (99-80%) HP:0006385
28 blue nevus 55 31 occasional (7.5%) Occasional (29-5%) HP:0100814
29 skin erosion 55 31 hallmark (90%) Very frequent (99-80%) HP:0200041
30 hypertension 31 HP:0000822
31 glaucoma 31 HP:0000501
32 subcutaneous hemorrhage 55 Very frequent (99-80%)
33 abnormality of the lower limb 55 Very frequent (99-80%)
34 abnormality of the skin 55 Very frequent (99-80%)
35 telangiectasia 31 HP:0001009
36 bowing of the legs 31 HP:0002979
37 cutis marmorata telangiectatica congenita 31 HP:0025107

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:

38
Skin, Bone, Kidney, Breast

Publications for Cutis Marmorata Telangiectatica Congenita

Articles related to Cutis Marmorata Telangiectatica Congenita:

(show top 50) (show all 126)
# Title Authors Year
1
Cutis marmorata telangiectatica congenita and major lower limb asymmetry. ( 29330270 )
2018
2
Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. ( 29136059 )
2017
3
RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA. ( 27930432 )
2016
4
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. ( 27051820 )
2016
5
A case of phakomatosis pigmentovascularis type II: port-wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita-like lesions. ( 26905386 )
2016
6
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. ( 25957586 )
2015
7
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
8
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
9
Strokelike Episodes and Cutis Marmorata Telangiectatica Congenita. ( 24525998 )
2014
10
Cutis marmorata telangiectatica congenita restricted to both breasts in a young female. ( 25126469 )
2014
11
Limb length discrepancy in cutis marmorata telangiectatica congenita: an audit of assessment and management in a multidisciplinary setting. ( 24641785 )
2014
12
Cutis marmorata telangiectatica congenita in a preterm female newborn: case report and review of the literature. ( 25573706 )
2014
13
Cutis marmorata telangiectatica congenita. ( 24616866 )
2014
14
Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body. ( 24243754 )
2014
15
Focal and atrophic cutis marmorata telangiectatica congenita. ( 24124860 )
2013
16
Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions. ( 23793203 )
2013
17
Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita. ( 23758322 )
2013
18
Characteristic congenital reticular erythema: cutis marmorata telangiectatica congenita. ( 23623530 )
2013
19
Cutis marmorata telangiectatica congenita. ( 24404536 )
2013
20
Cutis marmorata telangiectatica congenita in a preterm newborn - Case report and literature review. ( 23115721 )
2012
21
Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita. ( 22455534 )
2012
22
Cutis marmorata telangiectatica congenita: a mimicker of a common disorder. ( 21220441 )
2011
23
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. ( 19763591 )
2010
24
Diffuse dermal angiomatosis arising in cutis marmorata telangiectatica congenita. ( 21079080 )
2010
25
Macrocephaly-cutis marmorata telangiectatica congenita. ( 19106044 )
2009
26
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
27
Apnea and macrocephaly-cutis marmorata telangiectatica congenita. ( 19041204 )
2009
28
Neonatal lupus erythematosus and cutis marmorata telangiectatica congenita-like lesions. ( 20064177 )
2009
29
Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. ( 19196300 )
2009
30
Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita. ( 19795974 )
2009
31
Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. ( 20101343 )
2009
32
Cutis marmorata telangiectatica congenita manifesting as port-wine stain at birth. ( 18705838 )
2008
33
Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case. ( 18978660 )
2008
34
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. ( 18342719 )
2008
35
Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata". ( 18573710 )
2008
36
Systemic abnormalities associated with cutis marmorata telangiectatica congenita. ( 18239255 )
2008
37
An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. ( 17355231 )
2007
38
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). ( 17963258 )
2007
39
Macrocephaly-cutis marmorata telangiectatica congenita. ( 17465363 )
2007
40
Cutis marmorata telangiectatica congenita and neonatal lupus. ( 17542891 )
2007
41
Cutis marmorata telangiectatica congenita. ( 18057441 )
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 chronic autoimmune urticaria in a young man. ( 17291305 )
2007
44
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report. ( 16586236 )
2006
45
Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita. ( 17106557 )
2006
46
Lumbar sympathetic blockade in a patient with cutis marmorata telangiectatica congenita. ( 17121565 )
2006
47
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). ( 16503893 )
2006
48
Cutis marmorata telangiectatica congenita with gangrenous ulceration and hypovolaemic shock. ( 15812662 )
2005
49
Macrocephaly-cutis marmorata telangiectatica congenita syndrome--prenatal signs in ultrasonography. ( 15712320 )
2005
50
Cutis marmorata telangiectatica congenita. ( 15724044 )
2005

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

GO Terms for Cutis Marmorata Telangiectatica Congenita

Sources for Cutis Marmorata Telangiectatica Congenita

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42 MESH via Orphanet
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58 PubMed
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