ORPHA:1556
Cutis marmorata telangiectatica congenita
Also known as: CMTC
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,140
Trials
0
Interventional, condition-specific
Researchers
1,024
Distinct authors in sample
Gene link
ARL6IP6
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Cutis marmorata telangiectatica congenita (CMTC) is a localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009055
- MeSH:C536226
- OMIM:219250
- UMLS:C0345419
Additional Mondo synonyms (2)
cutis marmorata telangiectatica congenita · cutis marmorata telangiectatica congenita (disease)
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — ARL6IP6
- LiteraturePresent
1,140 matched papers (572 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Possibly — only limited evidence so far for ARL6IP6.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,140
1,140 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,140 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
572 in the last 10 years · low confidence
Phrase hits: 1,140 · MeSH hits: 0
Who's working on it?
1,024
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Baselga E3 papers · 2025
Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Papers in Europe PMC - 02Chen H3 papers · 2024
Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Papers in Europe PMC - 03Garzon MC3 papers · 2024
Departments of Dermatology and Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York.
Papers in Europe PMC - 04Happle R3 papers · 2023
Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland. rudolf.happle@uniklinik-freiburg.de.
Papers in Europe PMC - 05Lam JM3 papers · 2026
Department of Dermatology and Skin Sciences, University of British Columbia and Consultant Pediatric Dermatologist at the BC Children's Hospital Vancouver, Vancouver, British Columbia, V6H 3V4, Canada.
Papers in Europe PMC - 06Li J3 papers · 2024
Department of Pancreatic Surgery, General Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan Province 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China.
Papers in Europe PMC - 07Sheppard SE3 papers · 2024
Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Papers in Europe PMC - 08Yang L3 papers · 2025
Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Neurosurgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Papers in Europe PMC - 09Amir MA2 papers · 2026
Department of Medicine, Dow Medical College, Mission Rd, Nanak Wara Nanakwara, Karachi, Sindh 74200, Pakistan.
Papers in Europe PMC - 10Belengeanu V2 papers · 2026
Department of Medicine, Faculty of Medicine, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Cutis marmorata telangiectatica congenita" OR "cutis marmorata telangiectatica congenita (disease)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cutis marmorata telangiectatica congenita" OR "cutis marmorata telangiectatica congenita (disease)" OR "ARL6IP6"
Recall-expansion terms: ARL6IP6
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CMTC
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1140) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T17:43:29.787Z