MCID: PTR006
MIFTS: 67

Peters Plus Syndrome malady

Neuronal diseases, Eye diseases, Cardiovascular diseases, Metabolic diseases, Fetal diseases categories

Summaries for Peters Plus Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Peters Plus Syndrome, also known as peters anomaly, is related to aniridia and axenfeld-rieger syndrome, and has symptoms including depressed nasal bridge, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and agenesis/hypoplasia/aplasia of kidneys. An important gene associated with Peters Plus Syndrome is B3GALTL (beta 1,3-galactosyltransferase-like), and among its related pathways are Cyclins and Cell Cycle Regulation and Transcriptional Regulatory Network in Embryonic Stem Cell. The compounds tcdd and benzo(a)pyrene have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and testes, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

NIH Rare Diseases:42 Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features.  the most common eye abnormality is peters anomaly which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. other eye abnormalities such as glaucoma and cataracts are common. the severity of symptoms may vary from person to person. the only gene that has been associated with peters plus syndrome is b3galtl. the syndrome is inherited in an autosomal recessive fashion. treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended. last updated: 8/10/2009

Wikipedia:63 Krause–van Schooneveld–Kivlin syndrome is a hereditary syndrome that mainly affects the eyes, growth... more...

Description from OMIM:46 261540,604229

GeneReviews summary for peters-plus

Aliases & Classifications for Peters Plus Syndrome

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 35MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
peters-plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal
peters anomaly:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

peters plus syndrome 19 42 21
peters anomaly 42 20 22 21 46 48
krause-kivlin syndrome 42 21 60
peters-plus syndrome 19 46 48
peters anomaly with short limb dwarfism 42 48
peters congenital glaucoma 21 48
peters anomaly-short limb dwarfism syndrome 21
krause-van schooneveld-kivlin syndrome 21
irido-corneo-trabecular dysgenesis 21
peters'-plus syndrome 21
peters' plus syndrome 21
anomaly peters 44


External Ids:

SNOMED-CT via Orphanet57 449817000
ICD10 via Orphanet26 Q13.4
MESH via Orphanet35 C537884

Related Diseases for Peters Plus Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Peters Plus Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia30.2FOXC1, PITX2, PAX6
2axenfeld-rieger syndrome30.2CYP1B1, PITX2, FOXC1
3cataract30.0PAX6, TGFB2
4glaucoma30.0TGFB2, FOXC1, PITX2, CYP1B1, PAX6
5congenital disorder of glycosylation10.3
6coloboma10.3
7congenital aphakia10.2
8corneal staphyloma10.2
9chorioretinitis10.2
10retinitis10.2
11peters anomaly - cataract10.2
12dandy-walker syndrome10.2
13congenital hypothyroidism10.2
14brachydactyly10.2
15cleft lip10.2
16hypoplastic left heart syndrome10.2
17cleft palate10.2
18hydrocephalus10.2
19hypothyroidism10.2
20dwarfism10.2
21multiple intestinal atresia10.0
22unilateral retinoblastoma10.0
23choroiditis10.0
24buphthalmos10.0
25digeorge syndrome10.0
26polydactyly10.0
27microcephaly10.0
28dextrocardia10.0
29intestinal atresia10.0
30corneal neovascularization10.0
31galactosemia10.0
32retinoblastoma10.0
33polymicrogyria10.0
34iris hypoplasia and glaucoma10.0FOXC1
35primary congenital glaucoma10.0CYP1B1
36blindness10.0FOXC1
37keratopathy10.0PAX6
38medulloblastoma10.0PAX6, CYP1B1
39primary open angle glaucoma10.0CYP1B1, TGFB2
40open-angle glaucoma10.0TGFB2, CYP1B1
41congenital heart defect10.0FOXC1, PITX2
42glaucoma 3, primary congenital, d10.0PAX6, FOXC1, CYP1B1
43lung cancer10.0HDAC9
44developmental disabilities10.0PAX6, FOXC1, PITX2
45pancreatic cancer10.0HDAC9, TGFB2
46astrocytoma10.0TGFB2, PAX6, CYP1B1
47eye disease10.0TGFB2, PAX6, PITX2, FOXC1
48adenoma10.0PITX2, HDAC9, CYP1B1
49prostate cancer10.0CYP1B1, TGFB2, HDAC9
50glioblastoma multiforme10.0TGFB2, PAX6, HDAC9

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



Diseases related to peters plus syndrome

Clinical Features for Peters Plus Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

261540,604229

Clinical synopsis from OMIM:

261540

Symptoms:

48 (show all 72)
  • depressed nasal bridge
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • intestinal/bowel fistulae
  • umbilical hernia
  • inguinal/inguinoscrotal/crural hernia
  • sacral sinus/dimple
  • spina bifida occulta
  • abnormally placed nipples
  • conductive deafness/hearing loss
  • low set ears/posteriorly rotated ears
  • macrostomia/big mouth
  • anteverted nares/nostrils
  • uterine/uterus/fallopian tubes anomalies
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • anomalies of teeth and dentition
  • nystagmus
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • cataract/lens opacification
  • corneal clouding/opacity/vascularisation
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • dental malocclusion
  • hypoplastic mandibula/partial absence of the mandibula
  • corneal dystrophy
  • autosomal recessive inheritance
  • anomalies of eyes and vision
  • polyhydramnios
  • early death/lethality
  • corpus callosum/septum pellucidum total/partial agenesis
  • microcornea
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • brachycephaly/flat occiput
  • short limbs/micromelia/brachymelia
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • short foot/brachydactyly of toes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • long philtrum
  • exaggerated cupid bows
  • round face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • anterior chamber anomaly
  • iridocorneal/iridolenticular synechiae
  • short columella/depressed nasal tip
  • thin/retracted lips
  • frontal bossing/prominent forehead
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • cardiac septal defect
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • coloboma of iris
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • syndactyly of toes
  • blepharophimosis/short palpebral fissures
  • cleft lip and palate
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • preauricular/branchial tags/appendages
  • webbed neck/pterygium colli
  • short/small nose

Drugs & Therapeutics for Peters Plus Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Peters Plus Syndrome

Drug clinical trials:

Search ClinicalTrials for Peters Plus Syndrome

Search NIH Clinical Center for Peters Plus Syndrome

Search CenterWatch for Peters Plus Syndrome

Genetic Tests for Peters Plus Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Peters Plus Syndrome:

id Genetic test Affiliating Genes
1 Peters Plus Syndrome20 22 B3GALTL
2 Peters Anomaly20 PITX2

Anatomical Context for Peters Plus Syndrome

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32MalaCards
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MalaCards organs/tissues related to Peters Plus Syndrome:

32
Eye, Kidney, Testes, Uterus, Heart

Animal Models for Peters Plus Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Peters Plus Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.5PAX6, PITX2
2MP:00053889.2FOXC1, TGFB2
3MP:00053828.4TGFB2, PAX6, PITX2, FOXC1
4MP:00053818.1TGFB2, PAX6, PITX2, FOXC1
5MP:00053918.1FOXC1, PITX2, CYP1B1, PAX6, TGFB2
6MP:00053697.7TGFB2, PAX6, HDAC9, PITX2, FOXC1
7MP:00053857.6FOXC1, PITX2, HDAC9, PAX6, TGFB2

Publications for Peters Plus Syndrome

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50PubMed
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Articles related to Peters Plus Syndrome:

(show all 33)
idTitleAuthorsYear
1
Prenatal diagnosis of fetal peters' plus syndrome: a case report. (23984120)
2013
2
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
3
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. (24427506)
2013
4
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
5
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. (23889335)
2013
6
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
7
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. (21671750)
2011
8
A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure. (20424881)
2010
9
Atypical Peters plus syndrome with new associations. (21168087)
2010
10
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome. (20584037)
2010
11
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly. (21067481)
2010
12
Atypical Peters plus syndrome with new associations. (20451863)
2010
13
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
14
Peters plus syndrome and absence of kidney: a case report. (19118497)
2009
15
Novel B3GALTL mutation in Peters-plus Syndrome. (19796186)
2009
16
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. (19610101)
2009
17
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. (18199743)
2008
18
Peters plus syndrome. (18759095)
2008
19
Mutation analysis of B3GALTL in Peters Plus syndrome. (18798333)
2008
20
Ultrastructure of anterior lens capsule in Peters' plus syndrome. (17293788)
2007
21
Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. (16909395)
2006
22
Congenital hypothyroidism in Peters plus syndrome. (16754209)
2006
23
Prenatal sonographic findings in Peters-plus syndrome. (15912477)
2005
24
Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS). (14735587)
2004
25
The Peters' plus syndrome: a review. (12119218)
2002
26
Peters'-Plus syndrome: report on an unusual case. (7617402)
1994
27
Severe presentation of Peters'-Plus syndrome. (7894743)
1994
28
Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance. (8305962)
1993
29
Peters' plus syndrome. (8368243)
1993
30
Peters Plus Syndrome (20301637)
1993
31
Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder? (7508317)
1993
32
Japanese girl with Krause-van Schooneveld-Kivlin syndrome: Peters anomaly with short-limb dwarfism: Peter-Plus syndrome. (1481836)
1992
33
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. (1856836)
1991

Genetic Variations for Peters Plus Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Peters Plus Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815
2PAX6p.Arg26GlyVAR_003810
3PAX6p.Val53AspVAR_008700
4PAX6p.Ser363ProVAR_017544

Expression for genes affiliated with Peters Plus Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Peters Plus Syndrome

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

Pathways for genes affiliated with Peters Plus Syndrome

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51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 4Cell Signaling Technology
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Pathways related to Peters Plus Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7HDAC9
29.5PAX6, FOXC1
39.4PITX2, FOXC1
49.3TGFB2, PITX2
59.3TGFB2, FOXC1

Compounds for genes affiliated with Peters Plus Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Peters Plus Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1tcdd449.6TGFB2, CYP1B1
2benzo(a)pyrene449.5TGFB2, CYP1B1
3mitoxantrone44 49 1111.3CYP1B1, HDAC9
44-hydroxytamoxifen449.3CYP1B1, TGFB2
5oxaliplatin44 49 1111.2CYP1B1, HDAC9
6theophylline44 28 11 2411.9CYP1B1, HDAC9
7resveratrol44 59 11 2411.9TGFB2, CYP1B1, HDAC9
85fluorouracil448.9HDAC9, CYP1B1, TGFB2
9n acetylcysteine448.8HDAC9, CYP1B1, TGFB2
10tamoxifen44 49 28 1111.8TGFB2, CYP1B1, HDAC9
11estradiol44 11 2410.7HDAC9, CYP1B1, TGFB2
12cyclic amp44 249.5TGFB2, HDAC9, PITX2
13glutamate448.4TGFB2, PAX6, CYP1B1, HDAC9
14retinoic acid44 249.4HDAC9, CYP1B1, PAX6, TGFB2
15oligonucleotide448.4PITX2, HDAC9, CYP1B1, TGFB2
16glucose448.3PITX2, HDAC9, PAX6, TGFB2
17serine447.9TGFB2, PAX6, CYP1B1, HDAC9, PITX2

GO Terms for genes affiliated with Peters Plus Syndrome

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16Gene Ontology
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Cellular components related to Peters Plus Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056678.6HDAC9, PITX2, FOXC1

Biological processes related to Peters Plus Syndrome according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:0328089.8PAX6, FOXC1
2iris morphogenesisGO:0610729.8PITX2, PAX6
3salivary gland morphogenesisGO:0074359.7PAX6, TGFB2
4neuron fate commitmentGO:0486639.6TGFB2, PAX6
5cardiac muscle cell proliferationGO:0600389.6FOXC1, TGFB2
6camera-type eye developmentGO:0430109.5PITX2, FOXC1
7odontogenesisGO:0424769.5PITX2, TGFB2
8blood vessel remodelingGO:0019749.5TGFB2, FOXC1
9negative regulation of epithelial cell proliferationGO:0506809.4PAX6, TGFB2
10regulation of cell migrationGO:0303349.4PAX6, PITX2
11odontogenesis of dentin-containing toothGO:0424759.4PITX2, FOXC1
12collagen fibril organizationGO:0301999.4TGFB2, FOXC1
13eye developmentGO:0016549.2TGFB2, PAX6, FOXC1
14response to woundingGO:0096119.1TGFB2, PAX6
15heart developmentGO:0075078.7TGFB2, HDAC9, FOXC1

Molecular functions related to Peters Plus Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:0314909.4PITX2, FOXC1
2transcription factor bindingGO:0081347.9PAX6, HDAC9, PITX2, FOXC1

Products for genes affiliated with Peters Plus Syndrome

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Sources for Peters Plus Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet