MCID: PTR032
MIFTS: 59

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 54 71 13
Peters Anomaly 12 50 24 25 56 29 13 42 14
Peters Plus Syndrome 23 50 24 25 56 29
Krause-Kivlin Syndrome 50 25 56 69
Peters Anomaly with Short Limb Dwarfism 50 56
Krause-Van Schooneveld-Kivlin Syndrome 25 56
Irido-Corneo-Trabecular Dysgenesis 25 29
Peters Congenital Glaucoma 25 56
Peters Anomaly-Short Limb Dwarfism Syndrome 25
Peters' Plus Syndrome 25
Peters'-Plus Syndrome 25
Anomaly Peters 52
Ppls 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal recessive


HPO:

32
peters-plus syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peters-Plus Syndrome

NIH Rare Diseases : 50 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 2, multiple subtypes and anterior segment dysgenesis 5, multiple subtypes, and has symptoms including visual impairment, optic atrophy and nystagmus. An important gene associated with Peters-Plus Syndrome is B3GLCT (Beta 3-Glucosyltransferase), and among its related pathways/superpathways are Metabolism of proteins and HIV Life Cycle. 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 : 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 : 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 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 65)
id Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 2, multiple subtypes 31.5 FOXE3 PITX3
2 anterior segment dysgenesis 5, multiple subtypes 28.7 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
3 peters anomaly-cataract syndrome 11.9
4 anterior segment dysgenesis 6, multiple subtypes 11.2
5 anterior segment dysgenesis 4 11.1
6 anterior segment dysgenesis 3, multiple subtypes 11.1
7 anterior segment dysgenesis 1, multiple subtypes 11.1
8 anterior segment dysgenesis 8 10.8
9 corneal endothelial dystrophy and perceptive deafness 10.8
10 anterior segment dysgenesis 7, with sclerocornea 10.8
11 cataract microcornea syndrome 10.8
12 branchiootic syndrome 1 10.8
13 epilepsy with neurodevelopmental defects 10.7 ADAMTS2 CFP
14 ulcer of lower limbs 10.4 ADAMTS10 ADAMTS17
15 autosomal dominant nocturnal frontal lobe epilepsy 2 10.3 ADAMTS18 PITX2
16 foveal hypoplasia 1 10.1 CYP1B1 PAX6
17 coloboma 9.9
18 cataract 9.9
19 persistent hyperplastic primary vitreous 9.9
20 jag1-related alagille syndrome 9.9 FOXC1 PAX6
21 ring dermoid of cornea 9.9 PAX6 PITX2 PITX3
22 lymphoma 9.9
23 larsen-like syndrome 9.8 FOXC1 PITX2
24 corneal staphyloma 9.8
25 axenfeld-rieger syndrome 9.8
26 retinitis 9.8
27 chorioretinitis 9.8
28 sclerocornea 9.8
29 aniridia 9.8
30 congenital aphakia 9.8
31 familial male-limited precocious puberty 9.8 CYP1B1 PITX2
32 hypothyroidism 9.8
33 hydrocephalus 9.8
34 hypoplastic left heart syndrome 9.8
35 cleft lip 9.8
36 congenital hypothyroidism 9.8
37 brachydactyly 9.8
38 dwarfism 9.8
39 encephalocele 9.8
40 growth hormone deficiency 9.8
41 cleft lip/palate 9.8
42 myelomeningocele 9.8
43 anorectal stricture 9.8 FOXE3 PAX6 PITX3
44 mitral valve prolapse, myxomatous 3 9.7 FOXC1 PITX2
45 polydactyly 9.7
46 digeorge syndrome 9.7
47 cri-du-chat syndrome 9.7
48 wagr syndrome 9.7
49 galactosemia 9.7
50 microcephaly 9.7

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:

54

Skeletal- Spine:
scoliosis
hemivertebrae
vertebral segmentation defects

Head And Neck- Eyes:
nystagmus
myopia
ptosis
hypertelorism
glaucoma
more
Neurologic- Central Nervous System:
seizures
agenesis of corpus callosum
enlarged ventricles
hydrocephaly
brain atrophy
more
Skin Nails & Hair- Hair:
facial hypertrichosis

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

Genitourinary- External Genitalia Male:
hypospadias
abnormal foreskin

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Chest- Breasts:
widely spaced nipples

Genitourinary- External Genitalia Female:
hypoplastic labia majora
hypoplastic clitoris

Skeletal- Hands:
fifth finger clinodactyly
syndactyly
single transverse palmar creases
proximally placed thumbs
short metacarpal
more
Head And Neck- Neck:
webbed neck
broad neck

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

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

Abdomen- Biliary Tract:
double gallbladder

Skeletal:
joint laxity (except elbow)

Abdomen- Gastroin testinal:
feeding problems

Abdomen- External Features:
umbilical hernia
diastasis recti

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

Growth- Other:
intrauterine growth retardation
postnatal growth retardation

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect
pulmonary stenosis

Genitourinary- Ureters:
ureteral duplication

Skeletal- Limbs:
rhizomelic shortening
decreased elbow mobility

Genitourinary- Kidneys:
hydronephrosis
kidney duplication

Genitourinary- Internal Genitalia Male:
cryptorchidism

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

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

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

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

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

Genitourinary- Internal Genitalia Female:
rudimentary vagina
rudimentary uterus

Skeletal- Pelvis:
square pelvis
flat iliac crests


Clinical features from OMIM:

261540

Human phenotypes related to Peters-Plus Syndrome:

56 32 (show top 50) (show all 113)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
4 wide mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000154
5 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
6 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
7 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 depressed nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0005280
10 prominent forehead 56 32 frequent (33%) Frequent (79-30%) HP:0011220
11 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
12 round face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000311
13 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
14 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
15 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
16 ureteral duplication 56 32 occasional (7.5%) Occasional (29-5%) HP:0000073
17 polyhydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001561
18 glaucoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000501
19 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
20 short nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0003196
21 anteverted nares 56 32 occasional (7.5%) Occasional (29-5%) HP:0000463
22 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
23 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
24 peters anomaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000659
25 microcornea 56 32 frequent (33%) Frequent (79-30%) HP:0000482
26 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
27 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
28 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
29 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
30 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
31 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
32 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
33 webbed neck 56 32 frequent (33%) Frequent (79-30%) HP:0000465
34 pulmonic stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0001642
35 spina bifida occulta 56 32 occasional (7.5%) Occasional (29-5%) HP:0003298
36 toe syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001770
37 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
38 low-set, posteriorly rotated ears 56 32 occasional (7.5%) Occasional (29-5%) HP:0000368
39 short columella 56 32 hallmark (90%) Very frequent (99-80%) HP:0002000
40 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
41 decreased fetal movement 56 32 frequent (33%) Frequent (79-30%) HP:0001558
42 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
43 preauricular skin tag 56 32 frequent (33%) Frequent (79-30%) HP:0000384
44 sacral dimple 56 32 occasional (7.5%) Occasional (29-5%) HP:0000960
45 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007957
46 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
47 thin upper lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000219
48 clitoral hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000060
49 short palpebral fissure 56 32 frequent (33%) Frequent (79-30%) HP:0012745
50 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678

UMLS symptoms related to Peters-Plus Syndrome:


seizures

MGI Mouse Phenotypes related to Peters-Plus Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ADAMTS13 ADAMTS19 CFP CYP1B1 FOXC1 PAX6
2 cardiovascular system MP:0005385 9.97 PITX2 PITX3 POFUT2 THBS1 ADAMTS9 CFP
3 reproductive system MP:0005389 9.76 ADAMTS18 ADAMTS2 ADAMTS9 FOXC1 PAX6 PITX2
4 pigmentation MP:0001186 9.73 ADAMTS9 FOXC1 PAX6 PITX2 PITX3 ADAMTS13
5 skeleton MP:0005390 9.56 ADAMTS2 CFP FOXC1 PAX6 PITX2 PITX3
6 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:

id Genetic test Affiliating Genes
1 Irido-Corneo-Trabecular Dysgenesis 29
2 Peters Plus Syndrome 29 24 B3GLCT
3 Peters Anomaly 29 24 PITX2 CYP1B1 PAX6

Anatomical Context for Peters-Plus Syndrome

MalaCards organs/tissues related to Peters-Plus Syndrome:

39
Eye, Kidney, Uterus, Bone, Skin, Brain, Heart

Publications for Peters-Plus Syndrome

Articles related to Peters-Plus Syndrome:

(show all 40)
id Title Authors Year
1
Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. ( 28926587 )
2017
2
Mobile Retrolental Cyst in a Child With Peters Plus Syndrome. ( 27737454 )
2016
3
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. ( 26684045 )
2016
4
Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History. ( 27430178 )
2016
5
Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome. ( 27687499 )
2016
6
Clinical utility gene card for: Peters plus syndrome. ( 27049305 )
2016
7
Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. ( 25544610 )
2015
8
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
9
Prenatal diagnosis of fetal peters' plus syndrome: a case report. ( 23984120 )
2013
10
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. ( 24427506 )
2013
11
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. ( 23889335 )
2013
12
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
13
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
14
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. ( 21671750 )
2011
15
Atypical Peters plus syndrome with new associations. ( 20451863 )
2010
16
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome. ( 20584037 )
2010
17
A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure. ( 20424881 )
2010
18
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly. ( 21067481 )
2010
19
Atypical Peters plus syndrome with new associations. ( 21168087 )
2010
20
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. ( 19610101 )
2009
21
Novel B3GALTL mutation in Peters-plus Syndrome. ( 19796186 )
2009
22
Peters plus syndrome and absence of kidney: a case report. ( 19118497 )
2009
23
Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. ( 18720094 )
2009
24
Mutation analysis of B3GALTL in Peters Plus syndrome. ( 18798333 )
2008
25
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. ( 18199743 )
2008
26
Peters plus syndrome. ( 18759095 )
2008
27
Ultrastructure of anterior lens capsule in Peters' plus syndrome. ( 17293788 )
2007
28
Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. ( 16909395 )
2006
29
Congenital hypothyroidism in Peters plus syndrome. ( 16754209 )
2006
30
Prenatal sonographic findings in Peters-plus syndrome. ( 15912477 )
2005
31
Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS). ( 14735587 )
2004
32
The Peters' plus syndrome: a review. ( 12119218 )
2002
33
Peters'-Plus syndrome: report on an unusual case. ( 7617402 )
1994
34
Severe presentation of Peters'-Plus syndrome. ( 7894743 )
1994
35
Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder? ( 7508317 )
1993
36
Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance. ( 8305962 )
1993
37
Peters Plus Syndrome ( 20301637 )
1993
38
Peters' plus syndrome. ( 8368243 )
1993
39
Japanese girl with Krause-van Schooneveld-Kivlin syndrome: Peters anomaly with short-limb dwarfism: Peter-Plus syndrome. ( 1481836 )
1992
40
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. ( 1856836 )
1991

Variations for Peters-Plus Syndrome

ClinVar genetic disease variations for Peters-Plus Syndrome:

6 (show all 12)
id 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.347+5G> A single nucleotide variant Pathogenic rs80338850 GRCh37 Chromosome 13, 31821241: 31821241
3 B3GLCT B3GALTL, IVS6, G-A, +1 single nucleotide variant Pathogenic
4 B3GLCT B3GALTL, 1-BP INS, 230T insertion Pathogenic
5 B3GLCT NM_194318.3(B3GLCT): c.1178G> A (p.Gly393Glu) single nucleotide variant Pathogenic rs267606675 GRCh37 Chromosome 13, 31891816: 31891816
6 CYP1B1 NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72549387 GRCh37 Chromosome 2, 38302361: 38302361
7 B3GLCT NM_194318.3(B3GLCT): c.1098T> A (p.Tyr366Ter) single nucleotide variant Pathogenic rs80338852 GRCh37 Chromosome 13, 31891736: 31891736
8 CYP1B1 NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs) duplication Pathogenic rs587778873 GRCh37 Chromosome 2, 38298288: 38298297
9 PAX6 NM_000280.4(PAX6): c.152G> T (p.Gly51Val) single nucleotide variant Pathogenic rs587778874 GRCh37 Chromosome 11, 31823314: 31823314
10 B3GLCT NM_194318.3(B3GLCT): c.1067_1082del16 (p.Ile356Thrfs) deletion Pathogenic rs794727108 GRCh37 Chromosome 13, 31891705: 31891720
11 B3GLCT NM_194318.3(B3GLCT): c.1065-1G> A single nucleotide variant Pathogenic rs371904655 GRCh37 Chromosome 13, 31891702: 31891702
12 CYP1B1 NM_000104.3(CYP1B1): c.1063_1075delCGAGTGCAGGCAG (p.Arg355Asnfs) deletion Pathogenic rs1064792896 GRCh38 Chromosome 2, 38071279: 38071291

Copy number variations for Peters-Plus Syndrome from CNVD:

7
id 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

GO Terms for Peters-Plus Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 ADAMTS13 ADAMTS15 ADAMTS2 ADAMTS3 ADAMTS9 CFP
2 extracellular region GO:0005576 9.73 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19
3 extracellular matrix GO:0031012 9.63 ADAMTS10 ADAMTS3 ADAMTS9 CFP SPON1 THBS1
4 endoplasmic reticulum lumen GO:0005788 9.62 ADAMTS13 CFP SPON1 THBS1
5 proteinaceous extracellular matrix GO:0005578 9.32 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.93 FOXC1 FOXE3 PAX6 PITX2 PITX3
2 animal organ morphogenesis GO:0009887 9.72 PAX6 PITX2 PITX3
3 protein processing GO:0016485 9.67 ADAMTS13 ADAMTS2 ADAMTS3
4 camera-type eye development GO:0043010 9.67 FOXC1 FOXE3 PAX6 PITX2
5 lens development in camera-type eye GO:0002088 9.61 FOXE3 PAX6 PITX3
6 proteolysis GO:0006508 9.61 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19
7 collagen fibril organization GO:0030199 9.56 ADAMTS2 ADAMTS3 CYP1B1 FOXC1
8 negative regulation of neurogenesis GO:0050768 9.52 PAX6 PITX3
9 cornea development in camera-type eye GO:0061303 9.51 FOXE3 PAX6
10 iris morphogenesis GO:0061072 9.5 FOXE3 PAX6 PITX2
11 lacrimal gland development GO:0032808 9.48 FOXC1 PAX6
12 fucose metabolic process GO:0006004 9.46 B3GLCT POFUT2
13 eye development GO:0001654 9.46 ADAMTS18 FOXC1 FOXE3 PAX6
14 trabecular meshwork development GO:0002930 9.4 CYP1B1 FOXE3
15 protein O-linked fucosylation GO:0036066 9.1 ADAMTS13 B3GLCT CFP POFUT2 SPON1 THBS1

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19
2 zinc ion binding GO:0008270 9.91 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19
3 sequence-specific DNA binding GO:0043565 9.83 FOXC1 FOXE3 PAX6 PITX2 PITX3
4 peptidase activity GO:0008233 9.81 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19
5 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.67 FOXC1 FOXE3 PAX6 PITX2
6 metallopeptidase activity GO:0008237 9.61 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19
7 metalloendopeptidase activity GO:0004222 9.28 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19
8 metal ion binding GO:0046872 10.14 ADAMTS10 ADAMTS13 ADAMTS15 ADAMTS17 ADAMTS18 ADAMTS19

Sources for Peters-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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