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ORPHA:1556

Cutis marmorata telangiectatica congenita

low confidenceDisorder

Also known as: CMTC

Publications

1,530

Trials

0

Interventional, condition-specific

Researchers

1,024

Distinct authors in sample

Gene link

ARL6IP6

Limited

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Limited — ARL6IP6

  2. LiteraturePresent

    1,530 matched papers (849 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Short lower limbs; Retinal detachment; Patent ductus arteriosus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

41

Associated phenotypes · MONDO:0009055

  • Short lower limbs
  • Retinal detachment
  • Patent ductus arteriosus
  • Abnormality of the lower limb

Showing 4 of 41 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Phenytoin · marker/mechanism

MyDisease.info · MONDO:0009055

Literature

Is anyone studying this?

1,530

1,530 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=3967) is 59.

1,530 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

849 in the last 10 years · low confidence

Phrase hits: 1,140 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Baselga E3 papers · 2025

    Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

    Papers in Europe PMC
  2. 02
    Chen 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
  3. 03
    Garzon MC3 papers · 2024

    Departments of Dermatology and Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York.

    Papers in Europe PMC
  4. 04
    Happle R3 papers · 2023

    Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland. rudolf.happle@uniklinik-freiburg.de.

    Papers in Europe PMC
  5. 05
    Lam 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
  6. 06
    Li 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
  7. 07
    Sheppard 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
  8. 08
    Yang 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
  9. 09
    Amir MA2 papers · 2026

    Department of Medicine, Dow Medical College, Mission Rd, Nanak Wara Nanakwara, Karachi, Sindh 74200, Pakistan.

    Papers in Europe PMC
  10. 10
    Belengeanu 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Cutis marmorata telangiectatica congenita — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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)") OR ("ARL6IP6" OR "ARL6IP6 syndrome" OR "ARL6IP6-related")

Run this search on Europe PMC

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)"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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 (1530) 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