Details of Disease | DrugMAP

General Information of Disease (ID: DISD1WJ1)

Disease Name	Pierpont syndrome
Synonyms	PRPTS; PIERPONT syndrome; plantar lipomatosis, unusual facies, and developmental delay; Pierpont syndrome; plantar lipomatosis-facial dysmorphism-developmental delay syndrome; plantar lipomatosis-unusual facies-developmental delay syndrome
Definition	Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DIS5HJ01: Subcutaneous tissue disorder DISD715V: Hereditary neurological disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISD1WJ1: Pierpont syndrome
Disease Identifiers	MONDO ID MONDO_0011213 MESH ID C566559 UMLS CUI C1865644 OMIM ID 602342 MedGen ID 356049 Orphanet ID 487825 SNOMED CT ID 1220594007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TBL1XR1	TTYXT16	Strong	Genetic Variation	[1]
TBL1XR1	TTYXT16	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBL1XR1	OTM3B3OA	Definitive	Autosomal dominant	[2]
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References

1	TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.Am J Med Genet A. 2018 Dec;176(12):2813-2818. doi: 10.1002/ajmg.a.40510. Epub 2018 Oct 26.
2	Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017 Oct;60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4.