PRPTS
MCID: PRP093
MIFTS: 29

Pierpont Syndrome (PRPTS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pierpont Syndrome

MalaCards integrated aliases for Pierpont Syndrome:

Name: Pierpont Syndrome 57 59 75 29 6
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 57 75 73
Prpts 57 75
Plantar Lipomatosis-Facial Dysmorphism-Developmental Delay Syndrome 59
Plantar Lipomatosis-Unusual Facies-Developmental Delay Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mutations occur de novo
fat pads become less prominent with time


HPO:

32
pierpont syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pierpont Syndrome

OMIM : 57 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). (602342)

MalaCards based summary : Pierpont Syndrome, also known as plantar lipomatosis, unusual facies, and developmental delay, is related to lipomatosis and papilloma of choroid plexus. An important gene associated with Pierpont Syndrome is TBL1XR1 (Transducin Beta Like 1 X-Linked Receptor 1). Affiliated tissues include eye and skin, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : 75 Pierpont syndrome: An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling.

Related Diseases for Pierpont Syndrome

Diseases related to Pierpont Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lipomatosis 10.2
2 papilloma of choroid plexus 10.0
3 papilloma 10.0

Symptoms & Phenotypes for Pierpont Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Neurologic Central Nervous System:
global developmental delay
seizures (in some patients)
speech delay

Head And Neck Face:
full cheeks
high forehead
high anterior hairline
midface hypoplasia
broad face
more
Head And Neck Ears:
posteriorly rotated ears
fleshy ears

Chest Breasts:
widely spaced nipples
hypoplastic areolae

Skeletal Feet:
short, broad feet
deep grooves on soles, with pillowing in between
fetal toe pads

Neurologic Peripheral Nervous System:
hypotonia, truncal
hypertonia (in some patients)

Growth Other:
failure to thrive (in some patients)

Growth Weight:
less than fiftieth centile

Genitourinary External Genitalia Male:
small penis (in some patients)

Skeletal Limbs:
fat pads anterior to calcanei

Head And Neck Teeth:
widely spaced teeth

Head And Neck Head:
microcephaly
brachycephaly

Skin Nails Hair Hair:
high anterior hairline

Skeletal Hands:
short, broad hands
deep creases on palms, with pillowing in between
fetal finger pads

Head And Neck Eyes:
deep-set eyes
strabismus (in some patients)
short and narrow palpebral fissures
hypertelorism or telecanthus
microphthalmia (in 1 patient)
more
Head And Neck Mouth:
everted lower lip
long upper lip with thin vermilion border
central palatal ridge (in some patients)

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Growth Height:
less than tenth centile

Head And Neck Nose:
short, broad nose

Skeletal Spine:
scoliosis, progressive (in some patients)

Skin Nails Hair Skin:
dermal sinus (in 1 patient)


Clinical features from OMIM:

602342

Human phenotypes related to Pierpont Syndrome:

32 (show all 45)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 short neck 32 HP:0000470
4 seizures 32 occasional (7.5%) HP:0001250
5 failure to thrive 32 occasional (7.5%) HP:0001508
6 scoliosis 32 occasional (7.5%) HP:0002650
7 widely spaced teeth 32 HP:0000687
8 global developmental delay 32 HP:0001263
9 delayed speech and language development 32 HP:0000750
10 short nose 32 HP:0003196
11 microcephaly 32 HP:0000252
12 smooth philtrum 32 HP:0000319
13 short stature 32 HP:0004322
14 hypertonia 32 occasional (7.5%) HP:0001276
15 brachycephaly 32 HP:0000248
16 full cheeks 32 HP:0000293
17 feeding difficulties 32 occasional (7.5%) HP:0011968
18 strabismus 32 occasional (7.5%) HP:0000486
19 short palm 32 HP:0004279
20 short foot 32 HP:0001773
21 everted lower lip vermilion 32 HP:0000232
22 wide intermamillary distance 32 HP:0006610
23 telecanthus 32 HP:0000506
24 microphthalmia 32 HP:0000568
25 deeply set eye 32 HP:0000490
26 high forehead 32 HP:0000348
27 midface retrusion 32 HP:0011800
28 thin vermilion border 32 HP:0000233
29 wide nose 32 HP:0000445
30 micropenis 32 occasional (7.5%) HP:0000054
31 broad philtrum 32 HP:0000289
32 broad foot 32 HP:0001769
33 deep plantar creases 32 HP:0001869
34 deep palmar crease 32 HP:0006191
35 broad palm 32 HP:0001169
36 high anterior hairline 32 HP:0009890
37 posteriorly rotated ears 32 HP:0000358
38 hypoplastic areola 32 HP:0100853
39 unilateral narrow palpebral fissure 32 HP:0007946
40 long upper lip 32 HP:0011341
41 pendular nystagmus 32 HP:0012043
42 large fleshy ears 32 HP:0002265
43 broad face 32 HP:0000283
44 prominent median palatal raphe 32 occasional (7.5%) HP:0002708
45 abnormal peripheral nervous system morphology 32 HP:0000759

Drugs & Therapeutics for Pierpont Syndrome

Search Clinical Trials , NIH Clinical Center for Pierpont Syndrome

Genetic Tests for Pierpont Syndrome

Genetic tests related to Pierpont Syndrome:

# Genetic test Affiliating Genes
1 Pierpont Syndrome 29 TBL1XR1

Anatomical Context for Pierpont Syndrome

MalaCards organs/tissues related to Pierpont Syndrome:

41
Eye, Skin

Publications for Pierpont Syndrome

Articles related to Pierpont Syndrome:

# Title Authors Year
1
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. ( 30365874 )
2018
2
Pierpont syndrome: report of a new patient. ( 28562391 )
2017
3
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. ( 28687524 )
2017
4
Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report. ( 27520388 )
2016
5
Erratum: A specific mutation in TBL1XR1 causes Pierpont syndrome. ( 27221108 )
2016
6
A specific mutation in TBL1XR1 causes Pierpont syndrome. ( 26769062 )
2016
7
Choroid plexus papilloma and Pierpont syndrome. ( 23176139 )
2013
8
Pierpont syndrome: a collaborative study. ( 21834056 )
2011
9
Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome. ( 16007632 )
2005

Variations for Pierpont Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Pierpont Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 TBL1XR1 p.Tyr446Cys VAR_076759 rs878854402

ClinVar genetic disease variations for Pierpont Syndrome:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBL1XR1 NM_024665.5(TBL1XR1): c.1337A> G (p.Tyr446Cys) single nucleotide variant Pathogenic rs878854402 GRCh38 Chromosome 3, 177033050: 177033050
2 TBL1XR1 NM_024665.5(TBL1XR1): c.1337A> G (p.Tyr446Cys) single nucleotide variant Pathogenic rs878854402 GRCh37 Chromosome 3, 176750838: 176750838
3 TBL1XR1 NM_024665.5(TBL1XR1): c.1126T> C (p.Trp376Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795585 GRCh38 Chromosome 3, 177034322: 177034322
4 TBL1XR1 NM_024665.5(TBL1XR1): c.1126T> C (p.Trp376Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795585 GRCh37 Chromosome 3, 176752110: 176752110
5 TBL1XR1 NM_024665.5(TBL1XR1): c.1251-10C> T single nucleotide variant Likely benign rs779947196 GRCh38 Chromosome 3, 177033146: 177033146
6 TBL1XR1 NM_024665.5(TBL1XR1): c.1251-10C> T single nucleotide variant Likely benign rs779947196 GRCh37 Chromosome 3, 176750934: 176750934
7 TBL1XR1 NM_024665.5(TBL1XR1): c.126C> T (p.Ala42=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 176771639: 176771639
8 TBL1XR1 NM_024665.5(TBL1XR1): c.126C> T (p.Ala42=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 177053851: 177053851
9 TBL1XR1 NM_024665.5(TBL1XR1): c.792G> A (p.Gln264=) single nucleotide variant Likely benign rs754559924 GRCh38 Chromosome 3, 177047372: 177047372
10 TBL1XR1 NM_024665.5(TBL1XR1): c.792G> A (p.Gln264=) single nucleotide variant Likely benign rs754559924 GRCh37 Chromosome 3, 176765160: 176765160
11 TBL1XR1 NM_024665.5(TBL1XR1): c.291A> G (p.Gln97=) single nucleotide variant Benign rs61750379 GRCh38 Chromosome 3, 177051640: 177051640
12 TBL1XR1 NM_024665.5(TBL1XR1): c.291A> G (p.Gln97=) single nucleotide variant Benign rs61750379 GRCh37 Chromosome 3, 176769428: 176769428
13 TBL1XR1 NM_024665.5(TBL1XR1): c.669A> G (p.Pro223=) single nucleotide variant Benign rs61750378 GRCh38 Chromosome 3, 177050030: 177050030
14 TBL1XR1 NM_024665.5(TBL1XR1): c.669A> G (p.Pro223=) single nucleotide variant Benign rs61750378 GRCh37 Chromosome 3, 176767818: 176767818
15 TBL1XR1 NM_024665.5(TBL1XR1): c.346G> T (p.Ala116Ser) single nucleotide variant Uncertain significance rs372813783 GRCh37 Chromosome 3, 176769373: 176769373
16 TBL1XR1 NM_024665.5(TBL1XR1): c.346G> T (p.Ala116Ser) single nucleotide variant Uncertain significance rs372813783 GRCh38 Chromosome 3, 177051585: 177051585
17 TBL1XR1 NM_024665.5(TBL1XR1): c.714A> G (p.Thr238=) single nucleotide variant Uncertain significance rs750132632 GRCh38 Chromosome 3, 177047538: 177047538
18 TBL1XR1 NM_024665.5(TBL1XR1): c.714A> G (p.Thr238=) single nucleotide variant Uncertain significance rs750132632 GRCh37 Chromosome 3, 176765326: 176765326
19 TBL1XR1 NM_024665.5(TBL1XR1): c.560+7T> C single nucleotide variant Likely benign rs1009061727 GRCh38 Chromosome 3, 177050471: 177050471
20 TBL1XR1 NM_024665.5(TBL1XR1): c.560+7T> C single nucleotide variant Likely benign rs1009061727 GRCh37 Chromosome 3, 176768259: 176768259
21 TBL1XR1 NM_024665.5(TBL1XR1): c.1545G> A (p.Ter515=) single nucleotide variant Likely benign rs371553222 GRCh37 Chromosome 3, 176743286: 176743286
22 TBL1XR1 NM_024665.5(TBL1XR1): c.1545G> A (p.Ter515=) single nucleotide variant Likely benign rs371553222 GRCh38 Chromosome 3, 177025498: 177025498
23 TBL1XR1 NM_024665.5(TBL1XR1): c.1428A> G (p.Leu476=) single nucleotide variant Benign rs544818049 GRCh38 Chromosome 3, 177026463: 177026463
24 TBL1XR1 NM_024665.5(TBL1XR1): c.1428A> G (p.Leu476=) single nucleotide variant Benign rs544818049 GRCh37 Chromosome 3, 176744251: 176744251
25 TBL1XR1 NM_024665.5(TBL1XR1): c.926-6T> C single nucleotide variant Likely benign GRCh37 Chromosome 3, 176756228: 176756228
26 TBL1XR1 NM_024665.5(TBL1XR1): c.926-6T> C single nucleotide variant Likely benign GRCh38 Chromosome 3, 177038440: 177038440
27 TBL1XR1 NM_024665.5(TBL1XR1): c.1235A> G (p.Asn412Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 176752001: 176752001
28 TBL1XR1 NM_024665.5(TBL1XR1): c.1235A> G (p.Asn412Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 177034213: 177034213
29 TBL1XR1 NM_024665.5(TBL1XR1): c.767-10T> C single nucleotide variant Likely benign rs374414651 GRCh38 Chromosome 3, 177047407: 177047407
30 TBL1XR1 NM_024665.5(TBL1XR1): c.767-10T> C single nucleotide variant Likely benign rs374414651 GRCh37 Chromosome 3, 176765195: 176765195
31 TBL1XR1 NM_024665.5(TBL1XR1): c.341C> T (p.Ala114Val) single nucleotide variant Uncertain significance rs747826896 GRCh37 Chromosome 3, 176769378: 176769378
32 TBL1XR1 NM_024665.5(TBL1XR1): c.341C> T (p.Ala114Val) single nucleotide variant Uncertain significance rs747826896 GRCh38 Chromosome 3, 177051590: 177051590
33 TBL1XR1 NM_024665.5(TBL1XR1): c.323C> T (p.Ala108Val) single nucleotide variant Uncertain significance rs1056676313 GRCh37 Chromosome 3, 176769396: 176769396
34 TBL1XR1 NM_024665.5(TBL1XR1): c.323C> T (p.Ala108Val) single nucleotide variant Uncertain significance rs1056676313 GRCh38 Chromosome 3, 177051608: 177051608
35 TBL1XR1 NM_024665.5(TBL1XR1): c.1387G> A (p.Asp463Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 176750788: 176750788
36 TBL1XR1 NM_024665.5(TBL1XR1): c.1387G> A (p.Asp463Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 177033000: 177033000

Expression for Pierpont Syndrome

Search GEO for disease gene expression data for Pierpont Syndrome.

Pathways for Pierpont Syndrome

GO Terms for Pierpont Syndrome

Sources for Pierpont Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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