Trichorhinophalangeal syndrome, type I

Preferred Label : Trichorhinophalangeal syndrome, type I;

Symbol : TRPS1;

CISMeF acronym : TRPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Trps I;

Description : Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger transcription factor TRPS1 (TRPS1, 604386.0001);

Prefixed ID : #190350;

Details

Origin ID

190350;

UMLS CUI

C0432233;

Broader ORDO disease(s)
- Trichorhinophalangeal syndrome type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Trichorhinophalangeal Syndrome Type I [NCIt concept]
- Trichorhinophalangeal Syndrome, Type I [MeSH Supplementary Concept]
- Trichorhinophalangeal Syndrome, Type I [MeSH concept]
- Trichorhinophalangeal dysplasia type I (disorder) [SNOMED CT concept]
- Trichorhinophalangeal syndrome type 1 [ORDO Disease]
- trichorhinophalangeal syndrome 1 [Disease (Nov.)]
- trichorhinophalangeal syndrome type I [DO Concept]
DO Cross reference
- trichorhinophalangeal syndrome type I [DO Concept]
Genes related to phenotype
- Transcriptional repressor, gata-binding 1 [OMIM gene]
HPO term(s)
- Abnormal blood phosphate concentration [HPO term]
- Abnormal circulating calcium concentration [HPO term]
- Abnormality of alkaline phosphatase level [HPO term]
- Abnormally low-pitched voice [HPO term]
- Accelerated bone age after puberty [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Brachydactyly [HPO term]
- Bulbous nose [HPO term]
- Carious teeth [HPO term]
- Chin with horizontal crease [HPO term]
- Clinodactyly [HPO term]
- Concave nail [HPO term]
- Cone-shaped epiphyses of middle and proximal phalanges [HPO term]
- Cone-shaped epiphyses of the middle phalanges of the hand [HPO term]
- Cone-shaped epiphyses of the proximal phalanges of the hand [HPO term]
- Coxa magna [HPO term]
- Deep philtrum [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental malocclusion [HPO term]
- Eburnated epiphyses of distal phalanges [HPO term]
- Fine hair [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Floppy infant [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hyperlordosis [HPO term]
- Intellectual disability [HPO term]
- Ivory epiphyses of the distal phalanges of the hand [HPO term]
- Large, prominent ears [HPO term]
- Leukonychia [HPO term]
- Long philtrum [HPO term]
- Lordosis [HPO term]
- Macrotia [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Mild growth deficiency [HPO term]
- Narrow palate [HPO term]
- Osteoarthritis [HPO term]
- Osteopenia [HPO term]
- Pear-shaped nose [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Protruding ear [HPO term]
- Recurrent respiratory infections [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short stature [HPO term]
- Slow-growing hair [HPO term]
- Sparse hair [HPO term]
- Sparse lateral eyebrow [HPO term]
- Sparse scalp hair [HPO term]
- Sparse, fine hair [HPO term]
- Swelling of proximal interphalangeal joints [HPO term]
- Thin eyebrow [HPO term]
- Thin eyebrows [HPO term]
- Thin hair [HPO term]
- Thin nail [HPO term]
- Thin upper lip vermilion [HPO term]
- prominent, long philtrum [HPO term]
Manual NTBT mappings (CISMeF)
- Trichorhinophalangeal syndrome type 1 and 3 [ICD-11 More detail]
ORDO concept(s)
- Trichorhinophalangeal syndrome type 1 [ORDO Disease]
See also inter- (CISMeF)
- TRPS1 gene [LOINC component]
- langer-giedion syndrome [MeSH Descriptor]
- trichorhinophalangeal syndrome, type III [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichorhinophalangeal Syndrome Type I [NCIt concept]
- Trichorhinophalangeal Syndrome, Type I [MeSH Supplementary Concept]
- Trichorhinophalangeal Syndrome, Type I [MeSH concept]
- Trichorhinophalangeal dysplasia type I (disorder) [SNOMED CT concept]
- trichorhinophalangeal syndrome 1 [Disease (Nov.)]
- trichorhinophalangeal syndrome type I [DO Concept]
Validated automatic mappings to NTBT
- Trichorhinophalangeal syndrome type 1 and 3 (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients