ORPHA:1556
Cutis marmorata telangiectatica congenita
Synonyms: CMTC
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Cutis marmorata telangiectatica congenita (CMTC) is a congenital 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutis marmorata telangiectatica congenita | CMTC |
| fr | Cutis marmorata telangiectatica congenita | = en |
| de | Cutis marmorata teleangiectatica congenita | = en |
| es | Cutis marmorata telangiectásica congénita | = en |
| it | Cutis marmorata telangectasica congenita | = en |
| nl | Cutis marmorata telangiectatica congenita | = en |
| pt | Cutis marmorata telagiectásica congénita | |
| pl | Wrodzona teleangiektatyczna skóra marmurkowa | = en |
| cs | Cutis marmorata teleangiectatica congenita, van Lohuizenův syndrom | = en |
| uk | Вроджена телеангіектатична мармуровість шкіри (Cutis marmorata telangiectatica congenita) | = en |
| zh | 先天性毛细血管扩张性大理石样皮肤 | = en |
| tr | Cutis marmorata telenjektatika konjenita | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219250 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LC52 | NTBT | index | validated |
| MONDO | 0009055 | E | validated | |
| MeSH | C536226 | E | validated | |
| UMLS | C0345419 | E | validated | |
| GARD | 6228 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:211247Rare capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARL6IP6 | Candidate gene tested in | Not yet assessed | HGNC:24048 | ENSG00000177917 | 616495 | 2q23.3 | ARF like GTPase 6 interacting protein 6 | 25957586[PMID] |
| GNA11 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 35351629[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0000951 | Abnormality of the skin | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0000965 | Cutis marmorata | |
| HP:0001250 | Seizure | |
| HP:0006385 | Short lower limbs | |
| HP:0200041 | Skin erosion | |
| HP:0001933 | Subcutaneous hemorrhage | |
| Frequent (79-30%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000555 | Leukocoria | |
| HP:0000541 | Retinal detachment | |
| HP:0100585 | Telangiectasia of the skin | |
| Occasional (29-5%) | ||
| HP:0100545 | Arterial stenosis | |
| HP:0001541 | Ascites | |
| HP:0100555 | Asymmetric growth | |
| HP:0100814 | Blue nevus | |
| HP:0005306 | Capillary hemangioma | |
| HP:0100543 | Cognitive impairment | |
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0006101 | Finger syndactyly | |
| HP:0000821 | Hypothyroidism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000202 | Orofacial cleft | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000979 | Purpura | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002650 | Scoliosis | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1556
- This record as JSON: /data/d/1556.json