MCID: PTR032
MIFTS: 60

Peters-Plus Syndrome

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

Aliases & Classifications for Peters-Plus Syndrome

MalaCards integrated aliases for Peters-Plus Syndrome:

Name: Peters-Plus Syndrome 53 12 71 13
Peters Anomaly 12 72 49 24 55 36 28 13 41 14
Krause-Kivlin Syndrome 53 12 49 24 55 69
Peters Plus Syndrome 12 23 49 24 55 28
Peters Anomaly-Short Limb Dwarfism Syndrome 12 24
Peters Anomaly with Short Limb Dwarfism 49 55
Krause-Van Schooneveld-Kivlin Syndrome 24 55
Irido-Corneo-Trabecular Dysgenesis 24 28
Peters Congenital Glaucoma 24 55
Peters Anomaly with Short-Limb Dwarfism 53
Peters' Plus Syndrome 24
Peters'-Plus Syndrome 24
Anomaly Peters 51
Ppls 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive


HPO:

31
peters-plus syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peters-Plus Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/11/2015

MalaCards based summary : Peters-Plus Syndrome, also known as peters anomaly, is related to anterior segment dysgenesis 5 and anterior segment dysgenesis 2, and has symptoms including hypertelorism, frontal bossing and nystagmus. 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 Steroid hormone biosynthesis. Affiliated tissues include eye, kidney and uterus, and related phenotypes are homeostasis/metabolism and cardiovascular system

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 : 24 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 : 71 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 : 72 Anterior segment mesenchymal dysgenesis is a failure of the normal development of the tissues of the... 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 54)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 31.8 CYP1B1 PAX6
2 anterior segment dysgenesis 2 31.5 FOXE3 PITX3
3 anterior segment dysgenesis 4 31.2 FOXC1 PITX2
4 anterior segment dysgenesis 1 31.1 FOXE3 PAX6 PITX2 PITX3
5 congenital aphakia 29.4 FOXE3 PAX6
6 persistent hyperplastic primary vitreous 29.4 FOXC1 PAX6 PITX2
7 glaucoma 3, primary congenital, a 28.6 CYP1B1 FOXC1 PAX6 PITX2
8 axenfeld-rieger syndrome 28.6 CYP1B1 FOXC1 PAX6 PITX2
9 aniridia 1 28.1 CYP1B1 FOXC1 FOXE3 PAX6 PITX2
10 peters anomaly-cataract syndrome 12.0
11 anterior segment dysgenesis 6 11.3
12 anterior segment dysgenesis 3 11.2
13 cryptophthalmos, unilateral or bilateral, isolated 11.0
14 corneal dystrophy and perceptive deafness 10.9
15 anterior segment dysgenesis 7 10.9
16 branchiootic syndrome 1 10.9
17 anterior segment dysgenesis 8 10.9
18 cataract microcornea syndrome 10.9
19 congenital disorder of glycosylation, type in 10.0
20 coloboma of macula 10.0
21 cataract 10.0
22 lymphoma 10.0
23 sclerocornea 9.9
24 corneal staphyloma 9.9
25 retinitis 9.9
26 chorioretinitis 9.9
27 hypoplastic left heart syndrome 1 9.9
28 hydrocephalus 9.9
29 hypoplastic left heart syndrome 9.9
30 congenital hypothyroidism 9.9
31 brachydactyly 9.9
32 myelomeningocele 9.9
33 hypothyroidism 9.9
34 cleft lip 9.9
35 dwarfism 9.9
36 encephalocele 9.9
37 growth hormone deficiency 9.9
38 cleft lip/palate 9.9
39 isolated aniridia 9.8 FOXC1 PAX6
40 axenfeld-rieger syndrome, type 1 9.8 PAX6 PITX2 PITX3
41 early-onset glaucoma 9.8 CYP1B1 PITX2
42 axenfeld-rieger syndrome, type 3 9.8 FOXC1 PITX2
43 retinoblastoma 9.8
44 galactosemia 9.8
45 polydactyly 9.8
46 microcephaly 9.8
47 lens disease 9.7 FOXE3 PAX6 PITX3
48 axenfeld-rieger syndrome, type 2 9.7 FOXC1 PITX2
49 intestinal atresia 9.6 FOXC1 PAX6 PITX2
50 iris disease 9.6 FOXC1 PAX6 PITX2

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:

53
Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
brain atrophy
enlarged ventricles
hydrocephaly
more
Chest RibsSternum Clavicles And Scapulae:
pectus excavatum

Abdomen External Features:
umbilical hernia
diastasis recti

Head And Neck Mouth:
cleft palate
thin vermilion border
cleft lip
short lingual frenulum
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 Gastroin testinal:
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

Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
cataract
myopia
more
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:

55 31 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
2 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
3 nystagmus 55 31 very rare (1%) Frequent (79-30%),Very rare (<4-1%) HP:0000639
4 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
6 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
7 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 depressed nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0005280
9 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
10 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
11 short nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0003196
12 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
13 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
14 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
15 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
16 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
17 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
18 prominent forehead 55 31 frequent (33%) Frequent (79-30%) HP:0011220
19 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
20 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
21 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
22 strabismus 55 31 very rare (1%) Very rare (<4-1%) HP:0000486
23 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
24 short foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001773
25 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
26 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
27 wide intermamillary distance 55 31 occasional (7.5%) Occasional (29-5%) HP:0006610
28 webbed neck 55 31 frequent (33%) Frequent (79-30%) HP:0000465
29 short toe 55 31 hallmark (90%) Very frequent (99-80%) HP:0001831
30 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
31 anterior hypopituitarism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000830
32 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
33 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
34 wide mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000154
35 hypospadias 55 31 frequent (33%) Frequent (79-30%) HP:0000047
36 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
37 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
38 glaucoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000501
39 low-set, posteriorly rotated ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000368
40 conductive hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000405
41 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
42 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
43 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
44 round face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000311
45 polyhydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001561
46 thin upper lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000219
47 sacral dimple 55 31 occasional (7.5%) Occasional (29-5%) HP:0000960
48 pulmonic stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0001642
49 spina bifida occulta 55 31 occasional (7.5%) Occasional (29-5%) HP:0003298
50 disproportionate short-limb short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008873

UMLS symptoms related to Peters-Plus Syndrome:


seizures

MGI Mouse Phenotypes related to Peters-Plus Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ADAMTS1 ADAMTS13 ADAMTS19 ADAMTS3 CFP CYP1B1
2 cardiovascular system MP:0005385 9.91 FOXC1 PAX6 PITX2 PITX3 POFUT2 THBS1
3 pigmentation MP:0001186 9.5 PAX6 PITX2 PITX3 ADAMTS13 ADAMTS9 ADAMTSL4
4 vision/eye MP:0005391 9.32 ADAMTS13 ADAMTS3 ADAMTS9 ADAMTSL4 CYP1B1 FOXC1

Drugs & Therapeutics for Peters-Plus Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Corneal Opacities in Children Unknown status NCT02117323
2 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 28 CYP1B1 PAX6 PITX2
2 Peters Plus Syndrome 28 B3GLCT
3 Peters Anomaly 28

Anatomical Context for Peters-Plus Syndrome

MalaCards organs/tissues related to Peters-Plus Syndrome:

38
Eye, Kidney, Uterus, Skin, Brain, Bone, Heart

Publications for Peters-Plus Syndrome

Articles related to Peters-Plus Syndrome:

(show top 50) (show all 108)
# Title Authors Year
1
Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf. ( 28529272 )
2017
2
Long-Term Clinical Course in Eyes With Peters Anomaly. ( 28207433 )
2017
3
Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. ( 28926587 )
2017
4
A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly. ( 28154792 )
2017
5
Peters anomaly in PHACE syndrome. ( 28713056 )
2017
6
Clinical utility gene card for: Peters plus syndrome. ( 27049305 )
2016
7
Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities. ( 27843434 )
2016
8
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. ( 27218149 )
2016
9
Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome. ( 27687499 )
2016
10
Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly. ( 26684044 )
2016
11
Optimising keratoplasty for Peters' anomaly in infants using spectral-domain optical coherence tomography. ( 27660330 )
2016
12
8q21.11 microdeletion in two patients with syndromic peters anomaly. ( 27378168 )
2016
13
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. ( 26684045 )
2016
14
Mobile Retrolental Cyst in a Child With Peters Plus Syndrome. ( 27737454 )
2016
15
Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History. ( 27430178 )
2016
16
Peters anomaly in cri-du-chat syndrome. ( 26059676 )
2015
17
Incidence of peters anomaly and congenital opacity. ( 25474236 )
2015
18
Peters Anomaly. ( 26711294 )
2015
19
Cataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2). ( 25727582 )
2015
20
Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. ( 25544610 )
2015
21
Deficiency of the RNA binding protein caprin2 causes lens defects and features of peters anomaly. ( 26177727 )
2015
22
A Case of WAGR Syndrome with Peters' Anomaly. ( 25902081 )
2015
23
Image-guided femtosecond laser-assisted cataract surgery in Peters anomaly type 2. ( 26703482 )
2015
24
A novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review. ( 26496717 )
2015
25
Whole exome sequence analysis of Peters anomaly. ( 25182519 )
2014
26
Intravitreal Injection of Bevacizumab for Retinopathy of Prematurity in an Infant with Peters Anomaly. ( 25408672 )
2014
27
Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. ( 24977984 )
2014
28
Peters anomaly in a red kangaroo (Macropus rufus). ( 25314851 )
2014
29
Peters' anomaly imaged with an infrared anterior segment camera. ( 23927449 )
2014
30
Long-term visual outcomes of penetrating keratoplasty for Peters anomaly. ( 23052716 )
2013
31
Spontaneous corneal perforation in an eye with Peters' anomaly. ( 23990702 )
2013
32
Peters' anomaly. ( 23650461 )
2013
33
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
34
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
35
A simple and easy method using rigid endoscope to detect iridocorneal and keratolenticular adhesions in peters' anomaly. ( 24348409 )
2013
36
Cataract surgery for tilted lens in peters' anomaly type 2. ( 24163681 )
2013
37
Clinical outcome of penetrating keratoplasty in patients 5 years or younger: peters anomaly versus sclerocornea. ( 24104853 )
2013
38
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. ( 24427506 )
2013
39
A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. ( 24024747 )
2013
40
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. ( 23889335 )
2013
41
Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs. ( 23217015 )
2013
42
Prenatal diagnosis of fetal peters' plus syndrome: a case report. ( 23984120 )
2013
43
Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report. ( 22251706 )
2012
44
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
45
Posterior lamellar keratoplasty (DSAEK) in Peters anomaly. ( 22790185 )
2012
46
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. ( 21671750 )
2011
47
Histopathological features in a case of peters' anomaly with acquired corneal staphyloma. ( 22606460 )
2011
48
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye. ( 21976945 )
2011
49
A case of aniridia with unilateral Peters anomaly. ( 21397818 )
2011
50
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. ( 21150893 )
2011

Variations for Peters-Plus Syndrome

ClinVar genetic disease variations for Peters-Plus Syndrome:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 B3GLCT NM_194318.3(B3GLCT): c.1098T> A (p.Tyr366Ter) single nucleotide variant Pathogenic rs80338852 GRCh37 Chromosome 13, 31891736: 31891736
2 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
3 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh37 Chromosome 11, 31823314: 31823314
4 B3GLCT NM_194318.3(B3GLCT): c.1067_1082del16 (p.Ile356Thrfs) deletion Pathogenic rs794727108 GRCh37 Chromosome 13, 31891705: 31891720
5 B3GLCT NM_194318.3(B3GLCT): c.1065-1G> A single nucleotide variant Pathogenic rs371904655 GRCh37 Chromosome 13, 31891702: 31891702
6 B3GLCT NM_194318.3(B3GLCT): c.660+1G> A single nucleotide variant Pathogenic rs80338851 GRCh37 Chromosome 13, 31843415: 31843415
7 B3GLCT NM_194318.3(B3GLCT): c.347+5G> A single nucleotide variant Pathogenic rs80338850 GRCh37 Chromosome 13, 31821241: 31821241
8 B3GLCT B3GALTL, IVS6, G-A, +1 single nucleotide variant Pathogenic
9 B3GLCT B3GALTL, 1-BP INS, 230T insertion Pathogenic
10 B3GLCT NM_194318.3(B3GLCT): c.1178G> A (p.Gly393Glu) single nucleotide variant Pathogenic rs267606675 GRCh37 Chromosome 13, 31891816: 31891816
11 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh37 Chromosome 11, 31816253: 31816253
12 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh37 Chromosome 11, 31815627: 31815627
13 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
14 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh37 Chromosome 11, 31815335: 31815335
15 PAX6 NM_000280.4(PAX6): c.358delG (p.Val120Cysfs) deletion Pathogenic rs886042838 GRCh37 Chromosome 11, 31822404: 31822404
16 PAX6 NM_000280.4(PAX6): c.949C> T (p.Arg317Ter) single nucleotide variant Pathogenic rs1057517785 GRCh37 Chromosome 11, 31815069: 31815069
17 CYP1B1 NM_000104.3(CYP1B1): c.1063_1075delCGAGTGCAGGCAG (p.Arg355Asnfs) deletion Pathogenic rs1064792896 GRCh38 Chromosome 2, 38071279: 38071291
18 PAX6 NM_000280.4(PAX6): c.1215_1221delTCAAGTT (p.Gln406Profs) deletion Pathogenic GRCh38 Chromosome 11, 31789982: 31789988
19 PAX6 NM_000280.4(PAX6): c.495delG (p.Thr166Leufs) deletion Pathogenic GRCh37 Chromosome 11, 31822267: 31822267
20 PAX6 NM_000280.4(PAX6): c.470delG (p.Gly157Alafs) deletion Pathogenic GRCh37 Chromosome 11, 31822292: 31822292
21 PAX6 NM_000280.4(PAX6): c.120C> A (p.Cys40Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31802725: 31802725
22 PAX6 NM_000280.4(PAX6): c.1060_1064dup (p.Cys356Thrfs) duplication Pathogenic GRCh38 Chromosome 11, 31790829: 31790833
23 PAX6 NM_000280.4(PAX6): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31806409: 31806409

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:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350
2 Steroid hormone biosynthesis hsa00140
3 Tryptophan metabolism hsa00380
4 Metabolism of xenobiotics by cytochrome P450 hsa00980
5 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 9.93 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS19 ADAMTS3
2 extracellular space GO:0005615 9.92 ADAMTS13 ADAMTS15 ADAMTS3 ADAMTS9 ADAMTSL4 CFP
3 endoplasmic reticulum lumen GO:0005788 9.65 ADAMTS13 ADAMTSL4 CFP SPON1 THBS1
4 extracellular matrix GO:0031012 9.5 ADAMTS10 ADAMTS3 ADAMTS9 CFP SBSPON SPON1
5 proteinaceous extracellular matrix GO:0005578 9.32 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS19 ADAMTS3

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 9.93 FOXC1 FOXE3 PAX6 PITX2 PITX3
2 proteolysis GO:0006508 9.76 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS19 ADAMTS3
3 animal organ morphogenesis GO:0009887 9.7 PAX6 PITX2 PITX3
4 collagen fibril organization GO:0030199 9.61 ADAMTS3 CYP1B1 FOXC1
5 lens development in camera-type eye GO:0002088 9.58 FOXE3 PAX6 PITX3
6 camera-type eye development GO:0043010 9.56 FOXC1 FOXE3 PAX6 PITX2
7 negative regulation of endothelial cell migration GO:0010596 9.55 ADAMTS9 THBS1
8 eye development GO:0001654 9.54 FOXC1 FOXE3 PAX6
9 negative regulation of neurogenesis GO:0050768 9.51 PAX6 PITX3
10 cornea development in camera-type eye GO:0061303 9.49 FOXE3 PAX6
11 lacrimal gland development GO:0032808 9.48 FOXC1 PAX6
12 fucose metabolic process GO:0006004 9.46 B3GLCT POFUT2
13 trabecular meshwork development GO:0002930 9.32 CYP1B1 FOXE3
14 protein O-linked fucosylation GO:0036066 9.17 ADAMTS13 ADAMTSL4 B3GLCT CFP POFUT2 SPON1
15 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.8 FOXC1 FOXE3 PAX6 PITX2 PITX3
2 zinc ion binding GO:0008270 9.8 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS19 ADAMTS3
3 peptidase activity GO:0008233 9.76 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS19 ADAMTS3
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.67 FOXC1 FOXE3 PAX6 PITX2
5 heparin binding GO:0008201 9.62 ADAMTS1 ADAMTS15 ADAMTS3 THBS1
6 metallopeptidase activity GO:0008237 9.5 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS19 ADAMTS3
7 metalloendopeptidase activity GO:0004222 9.17 ADAMTS1 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS19 ADAMTS3

Sources for Peters-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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