Pierpont syndrome

Preferred Label : Pierpont syndrome;

Symbol : PRPTS;

CISMeF acronym : PRPTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Plantar lipomatosis, unusual facies, and developmental delay;

Description : Pierpont syndrome is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transducin-beta-like 1 receptor 1 gene (TBL1XR1, 608628.0005);

Prefixed ID : #602342;

Details

Origin ID

602342;

UMLS CUI

C1865644;

Automatic exact mappings (from CISMeF team)
- Haemophilus influenza type b polysaccharide vaccine-tetanus toxin conjugate [MeSH Supplementary Concept]
- Pierpont syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Pierpont syndrome (disorder) [SNOMED CT concept]
- plantar lipomatosis, unusual facies, and developmental delay [MeSH concept]
- plantar lipomatosis, unusual facies, and developmental delay [MeSH Supplementary Concept]
Genes related to phenotype
- Transducin-beta-like 1 receptor 1 [OMIM gene]
HPO term(s)
- Abnormal peripheral nervous system morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Broad face [HPO term]
- Broad foot [HPO term]
- Broad nasal tip [HPO term]
- Broad palm [HPO term]
- Broad philtrum [HPO term]
- Chiari malformation [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Deep palmar crease [HPO term]
- Deep plantar creases [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High anterior hairline [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypoplastic areola [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Large fleshy ears [HPO term]
- Long upper lip [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Narrow palpebral fissure [HPO term]
- Pendular nystagmus [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent fingertip pads [HPO term]
- Prominent median palatal raphe [HPO term]
- Prominent subcalcaneal fat pad [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short finger [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Thin vermilion border [HPO term]
- Unilateral narrow palpebral fissure [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nose [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Pierpont syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pierpont syndrome (disorder) [SNOMED CT concept]
- plantar lipomatosis, unusual facies, and developmental delay [MeSH Supplementary Concept]
- plantar lipomatosis, unusual facies, and developmental delay [MeSH concept]

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