Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TELANGIECTASIA, CUTANEOUS, AND CANCER SYNDROME, FAMILIAL
FCTCS
Number of Symptoms 18
OrphanetNr: 313846
OMIM Id: 614564
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic skin vascular disease
 -Rare genetic disease
Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
Skin vascular disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
2
 (HPO:0000670) Carious teeth 145 / 7739
3
 (HPO:0005338) Sparse lateral eyebrow 21 / 7739
4
 (HPO:0000444) Convex nasal ridge rare [HPO:skoehler] 87 / 7739
5
 (HPO:0003002) Breast carcinoma rare [HPO:skoehler] 23 / 7739
6
 (HPO:0001596) Alopecia 162 / 7739
7
 (HPO:0001807) Ridged nail rare [HPO:skoehler] 20 / 7739
8
 (HPO:0001009) Telangiectasia 46 / 7739
9
 (OMIM) Dental caries of both primary and secondary dentition 1 / 7739
10
 (OMIM) Nonmelanoma skin cancer (in some patients) 1 / 7739
11
 (OMIM) Misshapen incisors (in some patients) 1 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (OMIM) Loss of multiple teeth 1 / 7739
14
 (OMIM) Cervical cancer (rare) 1 / 7739
15
 (OMIM) Alopecia, patchy, over areas of prominent telangiectasias 1 / 7739
16
 (OMIM) Telangiectasias in both sun-exposed and sun-protected areas 1 / 7739
17
 (OMIM) Thin dental enamel of both primary and secondary dentition 1 / 7739
18
 (OMIM) Oropharyngeal cancer 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Patients with this syndrome develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, ...
Clinical Description OMIM Tanaka et al. (2012) reported a family with 24 affected individuals over 4 generations. All those with the disorder had telangiectases that appeared during infancy (before 18 months of age) in both sun-exposed and sun-protected skin. Other clinical ...
Molecular genetics OMIM In a large 4-generation family segregating cutaneous telangiectasia and predisposition to cancer mapping to chromosome 3q22-q24, Tanaka et al. (2012) analyzed 42 candidate genes and identified a heterozygous missense mutation in the ATR gene (Q2144R; 601215.0002) that segregated ...