Cutis Marmorata Telangiectatica Congenita disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMTC MCID: CTS011 MIFTS: 49	Cutis Marmorata Telangiectatica Congenita (CMTC) Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases
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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Skin diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁶⁰

Rare circulatory system diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 219250

MESH via Orphanet ⁴⁶ C536226

ICD10 via Orphanet ³⁵ Q82.8

UMLS via Orphanet ⁷⁵ C0345419

Orphanet ⁶⁰ ORPHA1556

MedGen ⁴³ C0345419

SNOMED-CT via HPO ⁷⁰ 111266001 112641009 12393003 more

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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

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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:

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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

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Drugs & Therapeutics for Cutis Marmorata Telangiectatica Congenita

Search Clinical Trials , NIH Clinical Center for Cutis Marmorata Telangiectatica Congenita

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Genetic Tests for Cutis Marmorata Telangiectatica Congenita

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Anatomical Context for Cutis Marmorata Telangiectatica Congenita

MalaCards organs/tissues related to Cutis Marmorata Telangiectatica Congenita:

⁴²

Skin, Bone, Kidney, Breast

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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 )	Mon RA...Berman DR	2019
2	RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA. ( 27930432 )	Taleb EA...Bhatt K	2018
3	Cutis marmorata telangiectatica congenita and major lower limb asymmetry. ( 29330270 )	Amaral J...Pereira D	2018
4	Cutis Marmorata Telangiectatica Congenita: a diagnostic challenge. ( 29512977 )	Proietti I...Potenza C	2018
5	RETINAL NEOVASCULARIZATION FROM A PATIENT WITH CUTIS MARMORATA TELANGIECTATICA CONGENITA. ( 29543621 )	Sassalos TM...Gao H	2018
6	Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation. ( 30297497 )	Jia D...Chandran S	2018
7	Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. ( 29136059 )	Poliak N...Rainey A	2017
8	A case of phakomatosis pigmentovascularis type II: port-wine stain and dermal melanocytosis with cutis marmorata telangiectatica congenita-like lesions. ( 26905386 )	Namiki T...Yokozeki H	2016
9	Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. ( 27051820 )	Du G...Zhang T	2016
10	Cutis Marmorata Telangiectatica Congenita: Clinical Features in 7 Cases. ( 29906051 )	Wirotpaisankul P...Treesirichod A	2016
11	Strokelike episodes and cutis marmorata telangiectatica congenita. ( 24525998 )	Van Schaik SM...Poll-The BT	2015
12	ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. ( 25957586 )	Abumansour IS...Alkuraya FS	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 )	Shimizu N...Tsuruta D	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 )	Ma H...Lu C	2015
15	Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body. ( 24243754 )	Corona-Rivera JR...Corona-Rivera A	2014
16	Cutis marmorata telangiectatica congenita. ( 24616866 )	Ponnurangam VN...Paramasivam V	2014
17	Limb length discrepancy in cutis marmorata telangiectatica congenita: an audit of assessment and management in a multidisciplinary setting. ( 24641785 )	Memarzadeh A...Eastwood DM	2014
18	Cutis marmorata telangiectatica congenita restricted to both breasts in a young female. ( 25126469 )	Lunge SB...Mahajan P	2014
19	Cutis marmorata telangiectatica congenita in a preterm female newborn: case report and review of the literature. ( 25573706 )	De Maio C...Gancia P	2014
20	Characteristic congenital reticular erythema: cutis marmorata telangiectatica congenita. ( 23623530 )	Pleimes M...Weibel L	2013
21	Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita. ( 23758322 )	Soohoo JR...Oliver SC	2013
22	Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions. ( 23793203 )	Trevisan F...Cattete FG	2013
23	Focal and atrophic cutis marmorata telangiectatica congenita. ( 24124860 )	Pernet C...Bessis D	2013
24	Cutis marmorata telangiectatica congenita. ( 24404536 )	Sharma J	2013
25	Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita. ( 22455534 )	Mortellaro C...Greco Lucchina A	2012
26	Cutis marmorata telangiectatica congenita in a preterm newborn - Case report and literature review. ( 23115721 )	Matic A...Ristivojevic A	2012
27	Cutis marmorata telangiectatica congenita: a mimicker of a common disorder. ( 21220441 )	Levy R...Lam JM	2011
28	Synthesis, growth and characterization of cadmium manganese thiocyanate (CMTC) crystal. ( 21640636 )	Paramasivam P...Raja CR	2011
29	Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. ( 19763591 )	Mart?nez-Lage JF...Galarza M	2010
30	Diffuse dermal angiomatosis arising in cutis marmorata telangiectatica congenita. ( 21079080 )	Halbesleben JJ...Stone MS	2010
31	Apnea and macrocephaly-cutis marmorata telangiectatica congenita. ( 19041204 )	Franklin B...Nauta HJ	2009
32	Macrocephaly-cutis marmorata telangiectatica congenita. ( 19106044 )	Bagazgoitia L...Ja?n P	2009
33	Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. ( 19196300 )	Kienast AK...Hoeger PH	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 )	Wright DR...Paller AS	2009
35	Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita. ( 19795974 )	Mitha AP...Hader WJ	2009
36	Neonatal lupus erythematosus and cutis marmorata telangiectatica congenita-like lesions. ( 20064177 )	del Boz J...Vera A	2009
37	Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. ( 20101343 )	Chatterjee R...Dey S	2009
38	Systemic abnormalities associated with cutis marmorata telangiectatica congenita. ( 18239255 )	Kapoor S	2008
39	Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. ( 18342719 )	Katugampola R...Mills C	2008
40	Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata". ( 18573710 )	Boente Mdel C...Happle R	2008
41	Cutis marmorata telangiectatica congenita manifesting as port-wine stain at birth. ( 18705838 )	Imafuku S...Nakayama J	2008
42	Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case. ( 18978660 )	Canham NL...Holder SE	2008
43	Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease. ( 18035989 )	Dadzie OE...Chu A	2007
44	Cutis marmorata telangiectatica congenita and chronic autoimmune urticaria in a young man. ( 17291305 )	Melani L...Fabbri P	2007
45	An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. ( 17355231 )	Chang BP...Hsieh JW	2007
46	Macrocephaly-cutis marmorata telangiectatica congenita. ( 17465363 )	Rekate HL	2007
47	Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases. ( 17465364 )	Conway RL...Graham JM	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 )	Murphy CC...Morgan WH	2007
49	Cutis marmorata telangiectatica congenita and neonatal lupus. ( 17542891 )	Heughan CE...Kanigsberg N	2007
50	Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). ( 17963258 )	Toriello HV...Mulliken JB	2007

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Genes for Cutis Marmorata Telangiectatica Congenita

Genes related to Cutis Marmorata Telangiectatica Congenita (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ARL6IP6	ADP Ribosylation Factor Like GTPase 6 Interacting Protein 6	Protein Coding	43	Candidate gene tested ⁶⁰ GeneCards inferred via : Publications (show sections)
2	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	19.01	GeneCards inferred via : Variants (show sections)
3	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	18.03	GeneCards inferred via : Variants (show sections)
4	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	18.03	GeneCards inferred via : Variants (show sections)

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Variations for Cutis Marmorata Telangiectatica Congenita

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Expression for Cutis Marmorata Telangiectatica Congenita

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

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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	Toll-like Receptor Signaling Pathway ¹ ³⁸ Show member pathways Chagas disease (American trypanosomiasis) ³⁸ Hepatitis B ³⁸ Hepatitis C ³⁸ NOD-like Receptor Signaling Pathways ⁶⁶ Regulation of toll-like receptor signaling pathway ¹	12.88	AKT3 PIK3CA PIK3R2
2	Circadian entrainment ³⁸ Show member pathways Cholinergic synapse ³⁸ Dopaminergic synapse ³⁸ Estrogen signaling pathway ³⁸ Glutamatergic synapse ³⁸ Relaxin receptors ⁶⁷ Relaxin signaling pathway ³⁸ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁶	12.82	AKT3 PIK3CA PIK3R2
3	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.78	AKT3 PIK3CA PIK3R2
4	Human cytomegalovirus infection ³⁸ Show member pathways Human immunodeficiency virus 1 infection ³⁸ Kaposi sarcoma-associated herpesvirus infection ³⁸	12.75	AKT3 PIK3CA PIK3R2
5	TNFR1 Pathway ⁶⁵ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²³ Apoptosis through Death Receptors ⁶⁵ Apoptotic Pathways Triggered By HIV1 ⁶⁵ DR3 Signaling ⁶⁵ Fas Signaling ⁶⁵ GITR Pathway ⁶⁵ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁷ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁵ TRAIL Pathway ⁶⁵ TWEAK Pathway ⁶⁵	12.74	AKT3 PIK3CA PIK3R2
6	Regulation of lipid metabolism Insulin signaling-generic cascades ²³ Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²³ Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²³ Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²³ ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁸ IRS activation ⁶⁷ Signal attenuation ⁶⁷ Transcription Receptor-mediated HIF regulation ²³ Translation Regulation of EIF2 activity ²³ Translation Regulation of EIF4F activity ²³ Translation Insulin regulation of translation ²³	12.72	AKT3 PIK3CA PIK3R2
7	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.71	AKT3 PIK3CA PIK3R2
8	Focal Adhesion ¹ ³⁸ Show member pathways HGF Pathway ⁶⁵ Integrin-mediated Cell Adhesion ¹	12.71	AKT3 PIK3CA PIK3R2
9	CCR5 Pathway in Macrophages ⁶⁵ Show member pathways Androgen Signaling ⁶⁵ Chemokine Signaling ⁶⁵ Chemokine signaling pathway ³⁸	12.7	AKT3 PIK3CA PIK3R2
10	NFAT and Cardiac Hypertrophy ⁶⁵ Show member pathways IGF1R Signaling ⁶⁵ Signaling Involved in Cardiac Hypertrophy ⁶⁵	12.68	AKT3 PIK3CA PIK3R2
11	Endometrial cancer ³⁸ Show member pathways Acute myeloid leukemia ³⁸ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁷ Chronic myeloid leukemia ³⁸ Colorectal cancer ³⁸ Pancreatic cancer ³⁸ Prostate cancer ³⁸ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁸	12.68	AKT3 PIK3CA PIK3R2
12	Pathways in cancer ³⁸	12.66	AKT3 PIK3CA PIK3R2
13	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁸ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²³ Apoptosis Signaling Pathways ⁶⁶ Death Receptor Signaling ⁶⁸	12.64	AKT3 PIK3CA PIK3R2
14	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁶ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁶ Development Thrombopoietin-regulated cell processes ²³ IL-15 Signaling Pathways ⁶⁶ IL-2 Signaling Pathways ⁶⁶ IL-21 Signaling Pathways ⁶⁶ IL-4 Signaling Pathways ⁶⁶ IL-7 Signaling Pathways ⁶⁶ IL-9 Pathway ⁶⁵ IL-9 Signaling Pathways ⁶⁶ Immune response IL-9 signaling pathway ²³	12.61	AKT3 PIK3CA PIK3R2
15	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	12.6	AKT3 PIK3CA PIK3R2
16	Ras signaling pathway ³⁸ Show member pathways Rap1 signaling pathway ³⁸	12.57	AKT3 PIK3CA PIK3R2
17	Downstream signaling events of B Cell Receptor (BCR) ⁶⁷ Show member pathways Activation of RAS in B cells ⁶⁷ Signaling by the B Cell Receptor (BCR) ⁶⁷	12.57	AKT3 PIK3CA PIK3R2
18	Development HGF signaling pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²³ Apoptosis and survival NGF signaling pathway ²³ Apoptosis and survival Role of CDK5 in neuronal death and survival ²³ Development Neurotrophin family signaling ²³ MET activates PTPN11 ⁶⁷ MET activates STAT3 ⁶⁷ Neurotrophin signaling pathway ³⁸ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.56	AKT3 PIK3CA PIK3R2
19	Glioma ³⁸ Show member pathways Endocrine resistance ³⁸ Melanoma ³⁸ Non-small cell lung cancer ³⁸ Signaling Pathways in Glioblastoma ¹	12.53	AKT3 PIK3CA PIK3R2
20	Development Endothelin-1/EDNRA signaling ²³ Show member pathways Cytoskeleton remodeling FAK signaling ²³ Development Endothelin-1/EDNRA transactivation of EGFR ²³ GnRH signaling pathway ³⁸ Inflammatory mediator regulation of TRP channels ³⁸	12.51	AKT3 PIK3CA PIK3R2
21	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways ⁶⁶ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways ⁶⁶ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways ⁶⁶ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways ⁶⁶ Leukocyte transendothelial migration ³⁸	12.5	AKT3 PIK3CA PIK3R2
22	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.48	AKT3 PIK3CA PIK3R2
23	TRAF Pathway ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁵ TNF Superfamily Pathway ⁶⁵ Toll-Like Receptors Pathway ⁶⁵	12.46	AKT3 PIK3CA PIK3R2
24	Immune response IL-23 signaling pathway ²³ Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶⁵ Development Angiopoietin - Tie2 signaling ²³ Development PDGF signaling via STATs and NF-kB ²³ IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²³ Rac1/Pak1/p38/MMP-2 pathway ¹	12.45	AKT3 PIK3CA PIK3R2
25	ErbB signaling pathway ¹ ³⁸ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶² EGFR tyrosine kinase inhibitor resistance ³⁸ Renal cell carcinoma ³⁸ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.45	AKT3 PIK3CA PIK3R2
26	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁸ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁸	12.44	AKT3 PIK3CA PIK3R2
27	Development Dopamine D2 receptor transactivation of EGFR ²³ Show member pathways Apoptosis and survival BAD phosphorylation ²³ BAD Phosphorylation ⁶⁵ Chemotaxis CXCR4 signaling pathway ²³ Development Alpha-2 adrenergic receptor activation of ERK ²³	12.43	AKT3 PIK3CA PIK3R2
28	T cell receptor signaling pathway ³⁸ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁸ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.42	AKT3 PIK3CA PIK3R2
29	Development EGFR signaling pathway ²³ Show member pathways Development ERBB-family signaling ²³ EGF Pathway ⁶⁵ EGFR Signaling Pathway ⁶⁸ ErbB receptor signaling network ¹	12.4	AKT3 PIK3CA PIK3R2
30	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.37	AKT3 PIK3CA PIK3R2
31	Prolactin Signaling Pathway ¹ ³⁸ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.35	AKT3 PIK3CA PIK3R2
32	Development FGFR signaling pathway ²³ Show member pathways Development FGF-family signaling ²³ Development Flt3 signaling ²³ FGF Pathway ⁶⁵	12.31	AKT3 PIK3CA PIK3R2
33	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.31	AKT3 PIK3CA PIK3R2
34	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁸ AMPK Signaling Pathway ⁶⁸	12.3	AKT3 PIK3CA PIK3R2
35	VEGF Pathway (Qiagen) ⁶⁵ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁵ Development VEGF-family signaling ²³ Neurophilin interactions with VEGF and VEGFR ⁶⁷ VEGF Family Ligands and Receptor Interactions ⁶⁵	12.28	AKT3 PIK3CA PIK3R2
36	JAK-STAT signaling pathway (KEGG) ⁶⁶ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁷ JAK-STAT signaling pathway ³⁸	12.27	AKT3 PIK3CA PIK3R2
37	Phospholipase D signaling pathway ³⁸ Show member pathways Choline metabolism in cancer ³⁸	12.27	AKT3 PIK3CA PIK3R2
38	Development VEGF signaling via VEGFR2 - generic cascades ²³ Show member pathways Development VEGF signaling and activation ²³ VEGF - VEGF R2 Signaling Pathways ⁶⁶	12.26	AKT3 PIK3CA PIK3R2
39	Development IGF-1 receptor signaling ²³ Show member pathways IL-4 Signaling Pathway ¹ Immune response IL-4 signaling pathway ²³ Signal transduction AKT signaling ²³	12.26	AKT3 PIK3CA PIK3R2
40	B cell receptor signaling pathway (KEGG) ³⁸ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.24	AKT3 PIK3CA PIK3R2
41	Human T-cell leukemia virus 1 infection ³⁸	12.22	AKT3 PIK3CA PIK3R2
42	Oocyte meiosis ³⁸ Show member pathways Progesterone-mediated oocyte maturation ³⁸	12.21	AKT3 PIK3CA PIK3R2
43	Development Ligand-independent activation of ESR1 and ESR2 ²³ Show member pathways Transcription CREB pathway ²³ Transcription PPAR Pathway ²³	12.19	AKT3 PIK3CA PIK3R2
44	B Cell Receptor Signaling Pathway (sino) ⁶⁸ Show member pathways T Cell Receptor Signaling Pathway ⁶⁸	12.19	AKT3 PIK3CA PIK3R2
45	Toll Comparative Pathway ⁶⁵ Show member pathways IL-1 Pathway ⁶⁵ Immune response MIF in innate immunity response ²³ iNOS Signaling ⁶⁵ TLR-TRIF Pathway ⁶⁵	12.18	AKT3 PIK3CA PIK3R2
46	cAMP signaling pathway ³⁸	12.18	AKT3 PIK3CA PIK3R2
47	Proteoglycans in cancer ³⁸	12.16	AKT3 PIK3CA PIK3R2
48	CD28 co-stimulation ⁶⁷ Show member pathways Activation of AKT2 ⁶⁷ CD28 dependent PI3K/Akt signaling ⁶⁷ CD28 dependent Vav1 pathway ⁶⁷ Costimulation by the CD28 family ⁶⁷ VEGFR2 mediated vascular permeability ⁶⁷	12.08	AKT3 PIK3CA PIK3R2
49	C-type lectin receptor signaling pathway ³⁸ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁶	12.08	AKT3 PIK3CA PIK3R2
50	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁶ Show member pathways Akt Signaling Pathway ⁶⁶	12.07	AKT3 PIK3CA PIK3R2

Sources

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

Sources for Cutis Marmorata Telangiectatica Congenita

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Cutis Marmorata Telangiectatica Congenita (CMTC)

Aliases & Classifications for Cutis Marmorata Telangiectatica Congenita

MalaCards integrated aliases for Cutis Marmorata Telangiectatica Congenita:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cutis Marmorata Telangiectatica Congenita

Related Diseases for Cutis Marmorata Telangiectatica Congenita

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

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

Symptoms & Phenotypes for Cutis Marmorata Telangiectatica Congenita

Human phenotypes related to Cutis Marmorata Telangiectatica Congenita:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

Publications for Cutis Marmorata Telangiectatica Congenita

Articles related to Cutis Marmorata Telangiectatica Congenita:

Genes for Cutis Marmorata Telangiectatica Congenita

Genes related to Cutis Marmorata Telangiectatica Congenita (1 elite genes):

Variations for Cutis Marmorata Telangiectatica Congenita

Expression for Cutis Marmorata Telangiectatica Congenita

Pathways for Cutis Marmorata Telangiectatica Congenita

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

GO Terms for Cutis Marmorata Telangiectatica Congenita

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

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

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

Sources for Cutis Marmorata Telangiectatica Congenita