Rothmund-thomson syndrome, type 2

Preferred Label : Rothmund-thomson syndrome, type 2;

Symbol : RTS2;

CISMeF acronym : RTS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rothmund-thomson syndrome;

Description : Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease (Simon et al., 2010). - Genetic Heterogeneity of Rothmund-Thomson Syndrome Wang et al. (2003) analyzed the RECQL4 gene in 33 RTS patients and found an absence of RECQL4 mutations in 10 patients. Analysis of a family with an affected sib pair excluded RECQL4 as a recessive locus for RTS in the family, arguing strongly for genetic heterogeneity in RTS. Simon et al. (2010) stated that only 40 to 66% of patients with RTS have been found to have mutation in the RECQL4 gene, indicating genetic heterogeneity.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Req-like DNA helicase type 4 gene (RECQL4, 603780.0001);

Neoplasia : Basal cell carcinoma; Squamous cell carcinoma; Osteogenic sarcoma;

Prefixed ID : #268400;

Details

Origin ID

268400;

UMLS CUI

C5203410;

Automatic exact mappings (from CISMeF team)
- ATP-Dependent DNA Helicase Q4 [NCIt concept]
- CREB binding protein [ORDO Gene]
- CREBBP wt Allele [NCIt concept]
- RECQL4 wt Allele [NCIt concept]
- Rett's disorder (disorder) [SNOMED CT concept]
- Rothmund-Thomson syndrome [ICD-11 More detail]
- Rothmund-Thomson syndrome type 1 [ORDO Disease]
- atypical teratoid rhabdoid tumor [DO Concept]
Currated CISMeF NLP mapping
- Rothmund Thomson syndrome type 2 (disorder) [SNOMED CT concept]
- Rothmund-Thomson Syndrome Type 2 [NCIt concept]
- Rothmund-Thomson syndrome type 2 [ORDO Disease]
DO Cross reference
- Rothmund-Thomson syndrome [DO Concept]
Genes related to phenotype
- Recq protein-like 4 [OMIM gene]
HPO term(s)
- Absent eyebrow [HPO term]
- Absent eyelashes [HPO term]
- Agenesis of permanent teeth [HPO term]
- Alopecia [HPO term]
- Annular pancreas [HPO term]
- Anteriorly placed anus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Cataract [HPO term]
- Congenital hip dislocation [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous photosensitivity [HPO term]
- Delayed eruption of teeth [HPO term]
- Depressed nasal bridge [HPO term]
- Dermal atrophy [HPO term]
- Epicanthus [HPO term]
- Forearm reduction defects [HPO term]
- Frontal bossing [HPO term]
- Glaucoma [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypogonadism [HPO term]
- Hypoplasia of teeth [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Mandibular prognathia [HPO term]
- Microcornea [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Nail dystrophy [HPO term]
- Narrow palpebral fissure [HPO term]
- Osteoporosis [HPO term]
- Osteosarcoma [HPO term]
- Overfolded helix [HPO term]
- Poikiloderma [HPO term]
- Premature graying of hair [HPO term]
- Prominent antihelix [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Small feet [HPO term]
- Small for gestational age [HPO term]
- Small hand [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Squamous cell carcinoma [HPO term]
- Strabismus [HPO term]
- Supernumerary tooth [HPO term]
- Talipes equinovarus [HPO term]
- Telangiectasia [HPO term]
- Underfolded helix [HPO term]
- Zonular cataract [HPO term]
ORDO concept(s)
- Rothmund-Thomson syndrome [ORDO Disease]
- Rothmund-Thomson syndrome type 1 [ORDO Disease]
- Rothmund-Thomson syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital poikiloderma [MedDRA Preferred Term]
- Rothmund Thomson syndrome [Disease (Nov.)]
- Rothmund Thomson syndrome type 2 (disorder) [SNOMED CT concept]
- Rothmund-Thomson Syndrome [NCIt concept]
- Rothmund-Thomson Syndrome Type 2 [NCIt concept]
- Rothmund-Thomson syndrome [ORDO Disease]
- Rothmund-Thomson syndrome [MeSH concept]
- Rothmund-Thomson syndrome [MedDRA LLT]
- Rothmund-Thomson syndrome [DO Concept]
- Rothmund-Thomson syndrome [PASCAL descriptor]
- Rothmund-Thomson syndrome (disorder) [SNOMED CT concept]
- rothmund-thomson syndrome [SNOMED Notion]
- rothmund-thomson syndrome [MeSH Descriptor]
Validated automatic mappings to NTBT
- Rothmund Thomson syndrome [Disease (Nov.)]
- Rothmund-Thomson Syndrome [NCIt concept]
- Rothmund-Thomson syndrome [DO Concept]
- Rothmund-Thomson syndrome [PASCAL descriptor]
- Rothmund-Thomson syndrome [MeSH concept]
- Rothmund-Thomson syndrome [ORDO Disease]
- Rothmund-Thomson syndrome [MedDRA LLT]
- Rothmund-Thomson syndrome (disorder) [SNOMED CT concept]
- Rothmund-Thomson syndrome type 2 [ICD-11 More detail]
- rothmund-thomson syndrome [MeSH Descriptor]
- rothmund-thomson syndrome [SNOMED Notion]

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