MCID: CTS011
MIFTS: 32

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 54 50 56
Cmtc 50 56
Hereditary Cutis Marmorata Telangiectatica Congenita 50
Van Lohuizen Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
cutis marmorata telangiectatica congenita
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
cutis marmorata telangiectatica congenita:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cutis Marmorata Telangiectatica Congenita

NIH Rare Diseases : 50 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, somatic and adams-oliver syndrome, and has symptoms including scoliosis, retinal detachment and cognitive impairment. 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

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:

54

Cardiac:
hypertension

Skin:
livedo reticularis
telangiectases
superficial ulceration
phlebectasia

Misc:
skin lesions improve with age

Limbs:
bowed legs
short leg
thin leg
tendinitis, stenosing

Eyes:
leukocoria
congenital retinal detachment
neovascular glaucoma


Clinical features from OMIM:

219250

Human phenotypes related to Cutis Marmorata Telangiectatica Congenita:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 retinal detachment 56 32 frequent (33%) Frequent (79-30%) HP:0000541
3 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
4 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
6 intrauterine growth retardation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001511
7 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
8 cutis marmorata 56 32 hallmark (90%) Very frequent (99-80%) HP:0000965
9 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
10 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
11 purpura 56 32 occasional (7.5%) Occasional (29-5%) HP:0000979
12 skin erosion 56 32 hallmark (90%) Very frequent (99-80%) HP:0200041
13 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
14 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
15 capillary hemangiomas 56 32 occasional (7.5%) Occasional (29-5%) HP:0005306
16 arteriovenous malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0100026
17 short lower limbs 56 32 hallmark (90%) Very frequent (99-80%) HP:0006385
18 leukocoria 56 32 frequent (33%) Frequent (79-30%) HP:0000555
19 multiple cafe-au-lait spots 56 32 occasional (7.5%) Occasional (29-5%) HP:0007565
20 oral cleft 56 32 occasional (7.5%) Occasional (29-5%) HP:0000202
21 reduced bone mineral density 56 32 occasional (7.5%) Occasional (29-5%) HP:0004349
22 multicystic kidney dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000003
23 aplasia/hypoplasia of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0008065
24 arterial stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100545
25 abnormality of the upper limb 56 32 hallmark (90%) Very frequent (99-80%) HP:0002817
26 displacement of the external urethral meatus 56 32 occasional (7.5%) Occasional (29-5%) HP:0100627
27 asymmetric growth 56 32 occasional (7.5%) Occasional (29-5%) HP:0100555
28 blue nevus 56 32 occasional (7.5%) Occasional (29-5%) HP:0100814
29 glaucoma 32 HP:0000501
30 hypertension 32 HP:0000822
31 telangiectasia 32 HP:0001009
32 bowing of the legs 32 HP:0002979
33 teleangiectasia of the skin 56 Frequent (79-30%)
34 subcutaneous hemorrhage 56 Very frequent (99-80%)
35 abnormality of the lower limb 56 Very frequent (99-80%)
36 abnormality of the skin 56 Very frequent (99-80%)
37 telangiectasia of the skin 32 frequent (33%) HP:0100585

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:

39
Skin, Bone, Kidney, Breast

Publications for Cutis Marmorata Telangiectatica Congenita

Articles related to Cutis Marmorata Telangiectatica Congenita:

(show top 50) (show all 124)
id Title Authors Year
1
RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA. ( 27930432 )
2016
2
A case of phakomatosis pigmentovascularis type II: port-wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita-like lesions. ( 26905386 )
2016
3
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. ( 27051820 )
2016
4
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
5
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. ( 25957586 )
2015
6
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
7
Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body. ( 24243754 )
2014
8
Limb length discrepancy in cutis marmorata telangiectatica congenita: an audit of assessment and management in a multidisciplinary setting. ( 24641785 )
2014
9
Cutis marmorata telangiectatica congenita restricted to both breasts in a young female. ( 25126469 )
2014
10
Cutis marmorata telangiectatica congenita in a preterm female newborn: case report and review of the literature. ( 25573706 )
2014
11
Cutis marmorata telangiectatica congenita. ( 24616866 )
2014
12
Strokelike Episodes and Cutis Marmorata Telangiectatica Congenita. ( 24525998 )
2014
13
Cutis marmorata telangiectatica congenita. ( 24404536 )
2013
14
Characteristic congenital reticular erythema: cutis marmorata telangiectatica congenita. ( 23623530 )
2013
15
Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita. ( 23758322 )
2013
16
Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions. ( 23793203 )
2013
17
Focal and atrophic cutis marmorata telangiectatica congenita. ( 24124860 )
2013
18
Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita. ( 22455534 )
2012
19
Cutis marmorata telangiectatica congenita in a preterm newborn - Case report and literature review. ( 23115721 )
2012
20
Cutis marmorata telangiectatica congenita: a mimicker of a common disorder. ( 21220441 )
2011
21
Diffuse dermal angiomatosis arising in cutis marmorata telangiectatica congenita. ( 21079080 )
2010
22
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. ( 19763591 )
2010
23
Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. ( 20101343 )
2009
24
Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita. ( 19795974 )
2009
25
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
26
Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. ( 19196300 )
2009
27
Neonatal lupus erythematosus and cutis marmorata telangiectatica congenita-like lesions. ( 20064177 )
2009
28
Apnea and macrocephaly-cutis marmorata telangiectatica congenita. ( 19041204 )
2009
29
Macrocephaly-cutis marmorata telangiectatica congenita. ( 19106044 )
2009
30
Systemic abnormalities associated with cutis marmorata telangiectatica congenita. ( 18239255 )
2008
31
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. ( 18342719 )
2008
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
Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata". ( 18573710 )
2008
35
Cutis marmorata telangiectatica congenita and neonatal lupus. ( 17542891 )
2007
36
Macrocephaly-cutis marmorata telangiectatica congenita. ( 17465363 )
2007
37
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). ( 17963258 )
2007
38
Cutis marmorata telangiectatica congenita and chronic autoimmune urticaria in a young man. ( 17291305 )
2007
39
An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. ( 17355231 )
2007
40
Cutis marmorata telangiectatica congenita. ( 18057441 )
2007
41
Late-onset pediatric glaucoma associated with cutis marmorata telangiectatica congenita managed with Molteno implant surgery: case report and review of the literature. ( 17524689 )
2007
42
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). ( 16503893 )
2006
43
Lumbar sympathetic blockade in a patient with cutis marmorata telangiectatica congenita. ( 17121565 )
2006
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
Cutis marmorata telangiectatica congenita with gangrenous ulceration and hypovolaemic shock. ( 15812662 )
2005
47
Cutis marmorata telangiectatica congenita in unique association with imperforate anus and myelodysplasia. ( 16243157 )
2005
48
Cutis marmorata telangiectatica congenita. ( 15724044 )
2005
49
Iliac artery stenosis in a child with cutis marmorata telangiectatica congenita. ( 16034745 )
2005
50
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. ( 16080291 )
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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43 MESH via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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