PPLS
MCID: PTR032
MIFTS: 60

Peters-Plus Syndrome (PPLS)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Peters-Plus Syndrome

MalaCards integrated aliases for Peters-Plus Syndrome:

Name: Peters-Plus Syndrome 57 12 75 13 40
Peters Anomaly 12 76 53 25 59 37 13 44 15 40
Peters Plus Syndrome 12 24 53 25 59 29 6 15
Krause-Kivlin Syndrome 57 12 53 25 59 73
Irido-Corneo-Trabecular Dysgenesis 25 29 6
Peters Anomaly-Short Limb Dwarfism Syndrome 12 25
Peters Anomaly with Short Limb Dwarfism 53 59
Krause-Van Schooneveld-Kivlin Syndrome 25 59
Peters Congenital Glaucoma 25 59
Peters Anomaly with Short-Limb Dwarfism 57
Krausekivlin Syndrome 76
Peters' Plus Syndrome 25
Peters'-Plus Syndrome 25
Anomaly Peters 55
Ppls 75

Characteristics:

Orphanet epidemiological data:

59
peters plus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;
peters anomaly
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
peters-plus syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peters-Plus Syndrome

NIH Rare Diseases : 53 Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities. The cause of Peters anomaly is unknown; it may be caused by genetic factors (including alterations of several genes, like the FOXC1, PAX6, PITX2, or CYP1B1 genes, environmental factors, or both. The critical event must occur in the first trimester of pregnancy during the formation of the anterior chamber. Most cases of Peters anomaly are sporadic or inherited in an autosomal recessive pattern. Some few cases might be inherited in an autosomal dominant pattern. Peters anomaly may occur as an isolated ocular abnormality or in association with other ocular defects. Peters anomaly is a feature of the Krause-Kivlin syndrome and the Peters-plus syndrome. Treatment depends on the problems that the patient has and may include glaucoma treatment or surgery to correct the cataracts or other lens abnormalities.

MalaCards based summary : Peters-Plus Syndrome, also known as peters anomaly, is related to anterior segment dysgenesis 5 and anterior segment dysgenesis 4, and has symptoms including seizures An important gene associated with Peters-Plus Syndrome is B3GLCT (Beta 3-Glucosyltransferase), and among its related pathways/superpathways are TGF-beta signaling pathway and Other types of O-glycan biosynthesis. Affiliated tissues include eye, kidney and bone, and related phenotypes are hypertelorism and frontal bossing

Disease Ontology : 12 A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has material basis in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.

Genetics Home Reference : 25 Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones.

UniProtKB/Swiss-Prot : 75 Peters-plus syndrome: Autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.

Wikipedia : 76 Peters plus syndrome (Krause�??van Schooneveld�??Kivlin syndrome) is a hereditary syndrome that mainly... more...

Description from OMIM: 261540
GeneReviews: NBK1464

Related Diseases for Peters-Plus Syndrome

Diseases related to Peters-Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 32.1 CYP1B1 PAX6
2 anterior segment dysgenesis 4 32.0 FOXC1 PITX2
3 anterior segment dysgenesis 2 31.7 FOXE3 PITX3
4 anterior segment dysgenesis 1 31.6 FOXE3 PAX6 PITX2 PITX3
5 anterior segment dysgenesis 31.1 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
6 congenital aphakia 29.8 FOXE3 PAX6
7 axenfeld-rieger syndrome 29.6 CYP1B1 FOXC1 PAX6 PITX2
8 glaucoma 3, primary congenital, a 29.6 CYP1B1 FOXC1 PAX6 PITX2
9 primary congenital glaucoma 29.6 CYP1B1 FOXC1 PITX2
10 cataract 29.4 FOXE3 PAX6 PITX2 PITX3
11 anterior segment dysgenesis 6 11.5
12 anterior segment dysgenesis 3 11.4
13 cryptophthalmos, unilateral or bilateral, isolated 11.2
14 corneal dystrophy and perceptive deafness 11.1
15 anterior segment dysgenesis 7 11.1
16 branchiootic syndrome 1 11.1
17 anterior segment dysgenesis 8 11.1
18 cataract microcornea syndrome 11.1
19 congenital disorder of glycosylation, type in 10.1
20 persistent hyperplastic primary vitreous 10.1
21 lymphoma 10.1
22 bowenoid papulosis 10.1
23 digeorge syndrome 10.0
24 sclerocornea 10.0
25 corneal staphyloma 10.0
26 isolated aniridia 10.0 FOXC1 PAX6
27 glaucoma-related pigment dispersion syndrome 10.0 ADAMTS18 CYP1B1 PITX2
28 early-onset glaucoma 10.0 CYP1B1 PITX2
29 keloid formation 10.0
30 hypoplastic left heart syndrome 1 10.0
31 hydrocephalus 10.0
32 hypoplastic left heart syndrome 10.0
33 congenital hypothyroidism 10.0
34 brachydactyly 10.0
35 myelomeningocele 10.0
36 hypothyroidism 10.0
37 cleft lip 10.0
38 dwarfism 10.0
39 encephalocele 10.0
40 growth hormone deficiency 10.0
41 neonatal hypothyroidism 10.0
42 cleft lip/palate 10.0
43 axenfeld-rieger syndrome, type 2 10.0 FOXC1 PITX2
44 axenfeld-rieger syndrome, type 1 10.0 PAX6 PITX2 PITX3
45 coloboma, ocular, autosomal dominant 10.0 CYP1B1 PAX6
46 intestinal atresia 9.9 FOXC1 PAX6 PITX2
47 iris disease 9.9 FOXC1 PAX6 PITX2
48 cri-du-chat syndrome 9.9
49 exudative vitreoretinopathy 1 9.9
50 retinoblastoma 9.9

Graphical network of the top 20 diseases related to Peters-Plus Syndrome:



Diseases related to Peters-Plus Syndrome

Symptoms & Phenotypes for Peters-Plus Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
cataract
myopia
more
Neurologic Central Nervous System:
agenesis of corpus callosum
brain atrophy
seizures
enlarged ventricles
hydrocephaly
more
Abdomen External Features:
umbilical hernia
diastasis recti

Head And Neck Mouth:
cleft palate
thin vermilion border
short lingual frenulum
cleft lip
cupid-bow shaped upper lip

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Neck:
webbed neck
broad neck

Skeletal Feet:
pes cavus
short metatarsal
broad, short feet
deep foot creases

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Hands:
short metacarpal
syndactyly
fifth finger clinodactyly
single transverse palmar creases
proximally placed thumbs
more
Genitourinary External Genitalia Female:
hypoplastic labia majora
hypoplastic clitoris

Chest Breasts:
widely spaced nipples

Skin Nails Hair Skin:
single transverse palmar creases
deep foot creases

Abdomen Gastrointestinal:
feeding problems

Head And Neck Teeth:
absent upper lateral incisors
abnormally pointed upper lateral incisors

Growth Weight:
birthweight < 3rd percentile (87%)

Abdomen Biliary Tract:
double gallbladder

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Spine:
scoliosis
hemivertebrae
vertebral segmentation defects

Head And Neck Face:
prominent forehead
long philtrum
micrognathia
round face (childhood)

Skeletal Pelvis:
square pelvis
flat iliac crests

Growth Other:
intrauterine growth retardation
postnatal growth retardation

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
pulmonary stenosis

Genitourinary External Genitalia Male:
hypospadias
abnormal foreskin

Genitourinary Kidneys:
hydronephrosis
kidney duplication

Genitourinary Ureters:
ureteral duplication

Skeletal Limbs:
rhizomelic shortening
decreased elbow mobility

Head And Neck Ears:
preauricular pits
prominent ears
small, malformed ears
narrow auditory canals

Skin Nails Hair Hair:
facial hypertrichosis

Genitourinary Internal Genitalia Female:
rudimentary uterus
rudimentary vagina

Growth Height:
birth length < 3rd percentile (63%)
adult male height 141-155cm
adult female height 128-151cm
dwarfism, disproportionate short-limb

Head And Neck Head:
microcephaly (22%)
macrocephaly (8%)
large anterior fontanel (birth)
premature fontanel closure

Skeletal:
joint laxity (except elbow)


Clinical features from OMIM:

261540

Human phenotypes related to Peters-Plus Syndrome:

59 32 (show top 50) (show all 122)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 nystagmus 59 32 very rare (1%) Frequent (79-30%),Very rare (<4-1%) HP:0000639
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
6 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
9 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
10 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
11 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
12 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
13 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
14 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
15 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
16 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
17 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
18 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
19 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
20 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
21 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
22 strabismus 59 32 very rare (1%) Very rare (<4-1%) HP:0000486
23 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
24 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
25 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
26 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
27 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
28 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
29 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
30 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
31 anterior hypopituitarism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000830
32 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
33 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
34 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
35 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
36 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
37 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
38 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
39 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
40 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
41 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
42 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
43 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
44 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
45 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
46 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
47 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
48 pulmonic stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001642
49 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
50 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873

UMLS symptoms related to Peters-Plus Syndrome:


seizures

MGI Mouse Phenotypes related to Peters-Plus Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ADAMTS1 ADAMTS13 ADAMTS18 CFP CYP1B1 FOXC1
2 endocrine/exocrine gland MP:0005379 9.92 ADAMTS1 ADAMTS18 ADAMTS9 FOXC1 PAX6 PITX2
3 pigmentation MP:0001186 9.63 ADAMTS13 ADAMTS9 FOXC1 PAX6 PITX2 PITX3
4 reproductive system MP:0005389 9.56 ADAMTS1 ADAMTS18 ADAMTS9 FOXC1 PAX6 PITX2
5 vision/eye MP:0005391 9.28 ADAMTS13 ADAMTS18 ADAMTS9 CYP1B1 FOXC1 PAX6

Drugs & Therapeutics for Peters-Plus Syndrome

Search Clinical Trials , NIH Clinical Center for Peters-Plus Syndrome

Cochrane evidence based reviews: peters anomaly

Genetic Tests for Peters-Plus Syndrome

Genetic tests related to Peters-Plus Syndrome:

# Genetic test Affiliating Genes
1 Irido-Corneo-Trabecular Dysgenesis 29 PAX6
2 Peters Plus Syndrome 29 B3GLCT

Anatomical Context for Peters-Plus Syndrome

MalaCards organs/tissues related to Peters-Plus Syndrome:

41
Eye, Kidney, Bone, Uterus, Skin, Brain, Heart

Publications for Peters-Plus Syndrome

Articles related to Peters-Plus Syndrome:

(show top 50) (show all 189)
# Title Authors Year
1
Bilateral anterior segment dysgenesis with the presumed Peters' anomaly in a cat. ( 29249729 )
2018
2
Correlation between age and corneal edema in pediatric patients with Peters anomaly. ( 30535965 )
2018
3
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis. ( 29305299 )
2018
4
Selective Endothelial Removal for Peters Anomaly. ( 29408830 )
2018
5
Outcome of optical iridectomy in Peters anomaly. ( 29705837 )
2018
6
Shallowing of the Anterior Chamber During Optical Iridectomy for Peters Anomaly. ( 30054601 )
2018
7
Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. ( 28926587 )
2017
8
Peters anomaly in PHACE syndrome. ( 28713056 )
2017
9
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. ( 28154792 )
2017
10
Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf. ( 28529272 )
2017
11
Long-Term Clinical Course in Eyes With Peters Anomaly. ( 28207433 )
2017
12
Correlation Between Clinical Examination and Diagnostic Imaging in Type II Peters Anomaly. ( 29156078 )
2017
13
Mobile Retrolental Cyst in a Child With Peters Plus Syndrome. ( 27737454 )
2016
14
Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities. ( 27843434 )
2016
15
Clinical utility gene card for: Peters plus syndrome. ( 27049305 )
2016
16
8q21.11 microdeletion in two patients with syndromic peters anomaly. ( 27378168 )
2016
17
Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome. ( 27687499 )
2016
18
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. ( 26684045 )
2016
19
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. ( 27218149 )
2016
20
Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History. ( 27430178 )
2016
21
Optimising keratoplasty for Peters' anomaly in infants using spectral-domain optical coherence tomography. ( 27660330 )
2016
22
Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly. ( 26684044 )
2016
23
Peters anomaly in cri-du-chat syndrome. ( 26059676 )
2015
24
Peters Anomaly. ( 26711294 )
2015
25
A Case of WAGR Syndrome with Peters' Anomaly. ( 25902081 )
2015
26
A novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review. ( 26496717 )
2015
27
Cataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2). ( 25727582 )
2015
28
Deficiency of the RNA binding protein caprin2 causes lens defects and features of peters anomaly. ( 26177727 )
2015
29
Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. ( 25544610 )
2015
30
Incidence of peters anomaly and congenital opacity. ( 25474236 )
2015
31
Image-guided femtosecond laser-assisted cataract surgery in Peters anomaly type 2. ( 26703482 )
2015
32
Intravitreal Injection of Bevacizumab for Retinopathy of Prematurity in an Infant with Peters Anomaly. ( 25408672 )
2014
33
Peters anomaly in a red kangaroo (Macropus rufus). ( 25314851 )
2014
34
Peters' anomaly imaged with an infrared anterior segment camera. ( 23927449 )
2014
35
Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. ( 24977984 )
2014
36
Whole exome sequence analysis of Peters anomaly. ( 25182519 )
2014
37
Cataract surgery for tilted lens in peters' anomaly type 2. ( 24163681 )
2013
38
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. ( 23889335 )
2013
39
First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. ( 23954224 )
2013
40
Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs. ( 23217015 )
2013
41
Long-term visual outcomes of penetrating keratoplasty for Peters anomaly. ( 23052716 )
2013
42
Peters' anomaly. ( 23650461 )
2013
43
Spontaneous corneal perforation in an eye with Peters' anomaly. ( 23990702 )
2013
44
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. ( 24427506 )
2013
45
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. ( 23161355 )
2013
46
A simple and easy method using rigid endoscope to detect iridocorneal and keratolenticular adhesions in peters' anomaly. ( 24348409 )
2013
47
A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. ( 24024747 )
2013
48
Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. ( 24104853 )
2013
49
Prenatal diagnosis of fetal peters' plus syndrome: a case report. ( 23984120 )
2013
50
Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure. ( 22759511 )
2012

Variations for Peters-Plus Syndrome

ClinVar genetic disease variations for Peters-Plus Syndrome:

6 (show top 50) (show all 442)
# Gene Variation Type Significance SNP ID Assembly Location
1 B3GLCT NM_194318.3(B3GLCT): c.660+1G> A single nucleotide variant Pathogenic rs80338851 GRCh37 Chromosome 13, 31843415: 31843415
2 B3GLCT NM_194318.3(B3GLCT): c.660+1G> A single nucleotide variant Pathogenic rs80338851 GRCh38 Chromosome 13, 31269278: 31269278
3 B3GLCT NM_194318.3(B3GLCT): c.347+5G> A single nucleotide variant Pathogenic rs80338850 GRCh37 Chromosome 13, 31821241: 31821241
4 B3GLCT NM_194318.3(B3GLCT): c.347+5G> A single nucleotide variant Pathogenic rs80338850 GRCh38 Chromosome 13, 31247104: 31247104
5 B3GLCT B3GALTL, IVS6, G-A, +1 single nucleotide variant Pathogenic
6 B3GLCT B3GALTL, 1-BP INS, 230T insertion Pathogenic
7 B3GLCT NM_194318.3(B3GLCT): c.1178G> A (p.Gly393Glu) single nucleotide variant Pathogenic rs267606675 GRCh37 Chromosome 13, 31891816: 31891816
8 B3GLCT NM_194318.3(B3GLCT): c.1178G> A (p.Gly393Glu) single nucleotide variant Pathogenic rs267606675 GRCh38 Chromosome 13, 31317679: 31317679
9 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh37 Chromosome 11, 31816253: 31816253
10 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh38 Chromosome 11, 31794705: 31794705
11 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh37 Chromosome 11, 31815627: 31815627
12 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh38 Chromosome 11, 31794079: 31794079
13 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
14 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh38 Chromosome 2, 38075218: 38075218
15 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh37 Chromosome 2, 38298394: 38298394
16 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh38 Chromosome 2, 38071251: 38071251
17 B3GLCT NM_194318.3(B3GLCT): c.1098T> A (p.Tyr366Ter) single nucleotide variant Pathogenic rs80338852 GRCh37 Chromosome 13, 31891736: 31891736
18 B3GLCT NM_194318.3(B3GLCT): c.1098T> A (p.Tyr366Ter) single nucleotide variant Pathogenic rs80338852 GRCh38 Chromosome 13, 31317599: 31317599
19 FREM1 NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln) single nucleotide variant Likely benign rs184394424 GRCh37 Chromosome 9, 14842559: 14842559
20 FREM1 NM_144966.5(FREM1): c.1493G> A (p.Arg498Gln) single nucleotide variant Likely benign rs184394424 GRCh38 Chromosome 9, 14842561: 14842561
21 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
22 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh38 Chromosome 2, 38071145: 38071154
23 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh37 Chromosome 11, 31823314: 31823314
24 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh38 Chromosome 11, 31801766: 31801766
25 PAX6 NM_000280.4(PAX6): c.357+1G> A single nucleotide variant Pathogenic rs398123295 GRCh37 Chromosome 11, 31823108: 31823108
26 PAX6 NM_000280.4(PAX6): c.357+1G> A single nucleotide variant Pathogenic rs398123295 GRCh38 Chromosome 11, 31801560: 31801560
27 B3GLCT NM_194318.3(B3GLCT): c.733G> A (p.Val245Met) single nucleotide variant Benign/Likely benign rs34830061 GRCh37 Chromosome 13, 31848718: 31848718
28 B3GLCT NM_194318.3(B3GLCT): c.733G> A (p.Val245Met) single nucleotide variant Benign/Likely benign rs34830061 GRCh38 Chromosome 13, 31274581: 31274581
29 PTCH1 NM_000264.4(PTCH1): c.3947A> G (p.Tyr1316Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147067171 GRCh37 Chromosome 9, 98209591: 98209591
30 PTCH1 NM_000264.4(PTCH1): c.3947A> G (p.Tyr1316Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147067171 GRCh38 Chromosome 9, 95447309: 95447309
31 CYP1B1 NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=) single nucleotide variant Benign rs1056837 GRCh37 Chromosome 2, 38298150: 38298150
32 CYP1B1 NM_000104.3(CYP1B1): c.1347T> C (p.Asp449=) single nucleotide variant Benign rs1056837 GRCh38 Chromosome 2, 38071007: 38071007
33 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh37 Chromosome 2, 38301803: 38301803
34 CYP1B1 NM_000104.3(CYP1B1): c.729G> C (p.Val243=) single nucleotide variant Benign/Likely benign rs9341249 GRCh38 Chromosome 2, 38074660: 38074660
35 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh37 Chromosome 2, 38301968: 38301968
36 CYP1B1 NM_000104.3(CYP1B1): c.564C> A (p.Gly188=) single nucleotide variant Benign/Likely benign rs9341247 GRCh38 Chromosome 2, 38074825: 38074825
37 CYP1B1 NM_000104.3(CYP1B1): c.-1-12C> T single nucleotide variant Benign/Likely benign rs2617266 GRCh37 Chromosome 2, 38302544: 38302544
38 CYP1B1 NM_000104.3(CYP1B1): c.-1-12C> T single nucleotide variant Benign/Likely benign rs2617266 GRCh38 Chromosome 2, 38075401: 38075401
39 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh37 Chromosome 4, 111539437: 111539437
40 PITX2 NM_153427.2(PITX2): c.660G> A (p.Pro220=) single nucleotide variant Benign/Likely benign rs148191851 GRCh38 Chromosome 4, 110618281: 110618281
41 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh38 Chromosome 4, 110617671: 110617671
42 PITX2 NM_153427.2(PITX2): c.*454C> T single nucleotide variant Benign rs6533526 GRCh37 Chromosome 4, 111538827: 111538827
43 B3GLCT NM_194318.3(B3GLCT): c.1067_1082del16 (p.Ile356Thrfs) deletion Pathogenic rs794727108 GRCh37 Chromosome 13, 31891705: 31891720
44 B3GLCT NM_194318.3(B3GLCT): c.1067_1082del16 (p.Ile356Thrfs) deletion Pathogenic rs794727108 GRCh38 Chromosome 13, 31317568: 31317583
45 B3GLCT NM_194318.3(B3GLCT): c.1065-1G> A single nucleotide variant Pathogenic rs371904655 GRCh37 Chromosome 13, 31891702: 31891702
46 B3GLCT NM_194318.3(B3GLCT): c.1065-1G> A single nucleotide variant Pathogenic rs371904655 GRCh38 Chromosome 13, 31317565: 31317565
47 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh37 Chromosome 4, 111539694: 111539694
48 PITX2 NM_153427.2(PITX2): c.403G> A (p.Ala135Thr) single nucleotide variant Benign/Likely benign rs77144743 GRCh38 Chromosome 4, 110618538: 110618538
49 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
50 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367

Copy number variations for Peters-Plus Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 76126 13 27800000 32900000 Deletion B3GALTL Peters Plus syndrome
2 76127 13 27800000 32900000 Deletion BRCA2 Peters Plus syndrome
3 76128 13 27800000 32900000 Deletion FRY Peters Plus syndrome
4 76129 13 27800000 32900000 Deletion HSPH1 Peters Plus syndrome
5 76130 13 27800000 32900000 Deletion LGR8 Peters Plus syndrome
6 76131 13 27800000 32900000 Deletion LOC196545 Peters Plus syndrome
7 76132 13 27800000 32900000 Deletion gene Peters Plus syndrome

Expression for Peters-Plus Syndrome

Search GEO for disease gene expression data for Peters-Plus Syndrome.

Pathways for Peters-Plus Syndrome

Pathways related to Peters-Plus Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350
2 Other types of O-glycan biosynthesis hsa00514

GO Terms for Peters-Plus Syndrome

Cellular components related to Peters-Plus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS18 ADAMTS8
2 endoplasmic reticulum lumen GO:0005788 9.56 ADAMTS13 CFP SPON1 THBS1
3 extracellular matrix GO:0031012 9.55 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS9 THBS1
4 collagen-containing extracellular matrix GO:0062023 9.1 ADAMTS15 ADAMTS8 ADAMTS9 CFP SPON1 THBS1

Biological processes related to Peters-Plus Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.92 FOXC1 FOXE3 PAX6 PITX2 PITX3
2 integrin-mediated signaling pathway GO:0007229 9.69 ADAMTS1 ADAMTS13 ADAMTS18
3 anatomical structure morphogenesis GO:0009653 9.67 FOXC1 FOXE3 PITX2 PITX3
4 lens development in camera-type eye GO:0002088 9.58 FOXE3 PAX6 PITX3
5 camera-type eye development GO:0043010 9.56 FOXC1 FOXE3 PAX6 PITX2
6 proteolysis GO:0006508 9.56 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS18 ADAMTS8
7 negative regulation of neurogenesis GO:0050768 9.55 PAX6 PITX3
8 negative regulation of endothelial cell migration GO:0010596 9.54 ADAMTS9 THBS1
9 cornea development in camera-type eye GO:0061303 9.49 FOXE3 PAX6
10 protein O-linked fucosylation GO:0036066 9.48 B3GLCT POFUT2
11 fucose metabolic process GO:0006004 9.46 B3GLCT POFUT2
12 lacrimal gland development GO:0032808 9.43 FOXC1 PAX6
13 iris morphogenesis GO:0061072 9.33 FOXE3 PAX6 PITX2
14 trabecular meshwork development GO:0002930 9.32 CYP1B1 FOXE3
15 eye development GO:0001654 8.92 ADAMTS18 FOXC1 FOXE3 PAX6

Molecular functions related to Peters-Plus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.95 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS18 ADAMTS8
2 sequence-specific DNA binding GO:0043565 9.72 FOXC1 FOXE3 PAX6 PITX2 PITX3
3 peptidase activity GO:0008233 9.7 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS18 ADAMTS8
4 heparin binding GO:0008201 9.56 ADAMTS1 ADAMTS15 ADAMTS8 THBS1
5 integrin binding GO:0005178 9.54 ADAMTS13 ADAMTS8 THBS1
6 metallopeptidase activity GO:0008237 9.5 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS18 ADAMTS8
7 metalloendopeptidase activity GO:0004222 9.17 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS18 ADAMTS8

Sources for Peters-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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