MCID: PTR006
MIFTS: 67

Peters Plus Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Peters Plus Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 anophthalmos/anophthalmia/microphthalmos/microphthalmia, polyhydramnios and preauricular/branchial tags/appendages. An important gene associated with Peters Plus Syndrome is B3GALTL (beta 1,3-galactosyltransferase-like), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Heart Development. The compounds mitoxantrone and oxaliplatin have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and testes, and related mouse phenotypes are pigmentation and limbs/digits/tail.

NIH Rare Diseases:43 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. 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. last updated: 9/22/2010

Wikipedia:65 Krause?van Schooneveld?Kivlin syndrome is a hereditary syndrome that mainly affects the eyes, growth and... more...

Description from OMIM:47 261540,604229

GeneReviews summary for peters-plus

Aliases & Classifications for Peters Plus Syndrome

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
krause-kivlin 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 43 21 49
peters anomaly 43 20 22 21 47 49
krause-kivlin syndrome 43 21 49 62
peters anomaly with short limb dwarfism 43 49
krause-van schooneveld-kivlin syndrome 21 49
peters congenital glaucoma 21 49
peters-plus syndrome 19 47
peters anomaly-short limb dwarfism syndrome 21
irido-corneo-trabecular dysgenesis 21
peters'-plus syndrome 21
peters' plus syndrome 21
anomaly peters 45


External Ids:

SNOMED-CT via Orphanet59 449817000
ICD10 via Orphanet26 Q13.4
MESH via Orphanet36 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia30.3PITX2, PAX6, FOXC1
2axenfeld-rieger syndrome30.3PITX2, CYP1B1, FOXC1
3cataract30.1PAX6, TGFB2
4retinoblastoma30.0HDAC9, TGFB2, PAX6
5glaucoma29.9FOXC1, PAX6, TGFB2, CYP1B1, PITX2
6congenital disorder of glycosylation10.3
7coloboma10.3
8congenital aphakia10.2
9corneal staphyloma10.2
10chorioretinitis10.2
11retinitis10.2
12persistent hyperplastic primary vitreous10.2
13peters anomaly - cataract10.2
14cleft lip10.2
15hypoplastic left heart syndrome10.2
16congenital hypothyroidism10.2
17brachydactyly10.2
18hydrocephalus10.2
19hypothyroidism10.2
20dwarfism10.2
21encephalocele10.2
22growth hormone deficiency10.2
23myelomeningocele10.2
24encephaloceles10.2
25short stature10.2
26keratopathy10.1PAX6
27primary congenital glaucoma10.1CYP1B1
28anophthalmia/microphthalmia10.1PITX2
29polydactyly10.1
30dextrocardia10.1
31microcephaly10.1
32intestinal atresia10.1
33unilateral retinoblastoma10.1
34choroiditis10.1
35buphthalmos10.1
36digeorge syndrome10.1
37multiple intestinal atresia10.1
38galactosemia10.1
39polymicrogyria10.1
40bilateral perisylvian polymicrogyria10.1
41congenital contractures10.1
42congenital heart disease10.0FOXC1, PITX2
43primary open angle glaucoma10.0TGFB2, CYP1B1
44open-angle glaucoma10.0TGFB2, CYP1B1
45glaucoma 3, primary congenital, d10.0FOXC1, PAX6, CYP1B1
46developmental disabilities10.0PITX2, PAX6, FOXC1
47adenoma10.0HDAC9, PITX2, CYP1B1
48astrocytoma10.0PAX6, TGFB2, CYP1B1
49embryonal cancer9.9PAX6, TGFB2
50glioblastoma multiforme9.9HDAC9, TGFB2, PAX6

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



Diseases related to peters plus syndrome

Symptoms for Peters Plus Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

261540

Clinical features from OMIM:

261540,604229

Symptoms:

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

Drugs & Therapeutics for Peters Plus Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Peters Plus Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Peters Plus Syndrome:

33
Eye, Kidney, Testes, Uterus, Heart

Animal Models for Peters Plus Syndrome or affiliated genes

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37MGI
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Publications for Peters Plus Syndrome

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52PubMed
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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

Variations for Peters Plus Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Peters Plus Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815
2PAX6p.Arg26GlyVAR_003810
3PAX6p.Val53AspVAR_008700
4PAX6p.Ser363ProVAR_017544

Clinvar genetic disease variations for Peters Plus Syndrome:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1B3GALTLNM_194318.3(B3GALTL): c.660+1G> Asingle nucleotide variantPathogenicrs80338851GRCh37Chr 13, 31843415: 31843415
2B3GALTLNM_194318.3(B3GALTL): c.347+5G> Asingle nucleotide variantPathogenicrs80338850GRCh37Chr 13, 31821241: 31821241
3B3GALTLB3GALTL, IVS6, G-A, +1single nucleotide variantPathogenic
4B3GALTLB3GALTL, 1-BP INS, 230TinsertionPathogenic
5B3GALTLNM_194318.3(B3GALTL): c.1178G> A (p.Gly393Glu)single nucleotide variantPathogenicrs267606675GRCh37Chr 13, 31891816: 31891816
6B3GALTLNM_194318.3(B3GALTL): c.1098T> A (p.Tyr366Ter)single nucleotide variantPathogenicrs80338852GRCh37Chr 13, 31891736: 31891736
7PAX6NM_000280.4(PAX6): c.76C> G (p.Arg26Gly)single nucleotide variantPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
8PAX6NM_001604.5(PAX6): c.161T> A (p.Val54Asp)single nucleotide variantPathogenicrs121907921GRCh37Chr 11, 31823441: 31823441
9CYP1B1NM_000104.3(CYP1B1): c.1200_1209dupTCATGCCACC (p.Thr404Serfs)duplicationPathogenicGRCh37Chr 2, 38298288: 38298297
10PAX6NM_000280.4(PAX6): c.152G> T (p.Gly51Val)single nucleotide variantPathogenicGRCh37Chr 11, 31823314: 31823314
11CYP1B1NM_000104.3(CYP1B1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs72549389GRCh37Chr 2, 38302530: 38302530
12CYP1B1NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter)single nucleotide variantPathogenicrs72549387GRCh37Chr 2, 38302361: 38302361
13PITX2PITX2, IVS3AS, A-T, -2single nucleotide variantPathogenic
14FOXC1NM_001453.2(FOXC1): c.335T> C (p.Phe112Ser)single nucleotide variantPathogenicrs104893951GRCh37Chr 6, 1611015: 1611015
15FOXC1FOXC1, DUPduplicationPathogenic
16FOXC1NM_001453.2(FOXC1): c.358C> T (p.Gln120Ter)single nucleotide variantPathogenicrs121909339GRCh37Chr 6, 1611038: 1611038

Expression for genes affiliated with Peters Plus Syndrome

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2BioGPS, 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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50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 57SinoBiological, 30KEGG, 55Reactome, 5Cell Signaling Technology
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Compounds for genes affiliated with Peters Plus Syndrome

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Peters Plus Syndrome according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1mitoxantrone45 51 1111.8HDAC9, CYP1B1
2oxaliplatin45 51 1111.8CYP1B1, HDAC9
3theophylline45 29 24 1112.7HDAC9, CYP1B1
4valproic acid45 51 24 1112.6CYP1B1, HDAC9
5tcdd459.5TGFB2, CYP1B1
6benzo(a)pyrene459.5TGFB2, CYP1B1
74-hydroxytamoxifen459.4TGFB2, CYP1B1
8p003459.2TGFB2, CYP1B1
9resveratrol45 61 24 1112.0TGFB2, CYP1B1, HDAC9
105fluorouracil459.0TGFB2, CYP1B1, HDAC9
11n acetylcysteine459.0HDAC9, CYP1B1, TGFB2
12tamoxifen45 51 29 1112.0HDAC9, CYP1B1, TGFB2
13estradiol45 24 1111.0TGFB2, CYP1B1, HDAC9
14progesterone45 29 61 24 1112.9TGFB2, CYP1B1, HDAC9
15cyclic amp45 249.9HDAC9, PITX2, TGFB2
16testosterone45 61 24 1111.8HDAC9, CYP1B1, TGFB2
17steroid458.8TGFB2, CYP1B1, HDAC9
18glutamate458.6HDAC9, CYP1B1, TGFB2, PAX6
19phosphatidylinositol458.6TGFB2, PITX2, HDAC9
20retinoic acid45 249.6PAX6, TGFB2, CYP1B1, HDAC9
21dexamethasone45 51 29 1111.6HDAC9, CYP1B1, TGFB2
22glucose458.5HDAC9, PITX2, TGFB2, PAX6
23oligonucleotide458.5HDAC9, PITX2, CYP1B1, TGFB2
24vegf458.4PAX6, TGFB2, HDAC9
25tyrosine458.3TGFB2, CYP1B1, PITX2, HDAC9
26serine458.1HDAC9, PITX2, CYP1B1, TGFB2, PAX6

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:0056678.8FOXC1, PITX2, HDAC9

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1iris morphogenesisGO:0610729.9PITX2, PAX6
2lacrimal gland developmentGO:0328089.8FOXC1, PAX6
3regulation of cell migrationGO:0303349.7PITX2, PAX6
4neuron migrationGO:0017649.6PAX6, PITX2
5camera-type eye developmentGO:0430109.6FOXC1, PITX2
6salivary gland morphogenesisGO:0074359.6TGFB2, PAX6
7neuron fate commitmentGO:0486639.5PAX6, TGFB2
8odontogenesis of dentin-containing toothGO:0424759.5FOXC1, PITX2
9negative regulation of epithelial cell proliferationGO:0506809.5PAX6, TGFB2
10response to woundingGO:0096119.4PAX6, TGFB2
11odontogenesisGO:0424769.4PITX2, TGFB2
12cardiac muscle cell proliferationGO:0600389.3FOXC1, TGFB2
13blood vessel remodelingGO:0019749.3FOXC1, TGFB2
14collagen fibril organizationGO:0301999.3TGFB2, FOXC1
15positive regulation of gene expressionGO:0106289.2PAX6, TGFB2
16embryo developmentGO:0097909.0FOXC1, TGFB2
17Notch signaling pathwayGO:0072199.0FOXC1, HDAC9
18eye developmentGO:0016549.0FOXC1, PAX6, TGFB2
19negative regulation of transcription from RNA polymerase II promoterGO:0001228.9HDAC9, PITX2, FOXC1
20positive regulation of transcription from RNA polymerase II promoterGO:0459448.8PITX2, PAX6, FOXC1
21heart developmentGO:0075078.8HDAC9, TGFB2, FOXC1

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

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.4FOXC1, PAX6
2chromatin DNA bindingGO:0314909.0FOXC1, PITX2
3transcription factor bindingGO:0081348.3FOXC1, PAX6, PITX2, HDAC9

Products for genes affiliated with Peters Plus Syndrome

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Sources for Peters Plus Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet