MCID: PTR006
MIFTS: 48

Peters Plus Syndrome malady

Neuronal, Eye, Cardiovascular, Metabolic, Fetal categories

Summaries for Peters Plus Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Peters Plus Syndrome, also known as peters anomaly, is related to aniridia and axenfeld-rieger syndrome, and has symptoms including frontal bossing/prominent forehead, hypertelorism and low set ears/posteriorly rotated ears. 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. Related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Genetics Home Reference:21 Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.

Wikipedia:64 Krause–van Schooneveld–Kivlin syndrome is a hereditary syndrome that mainly affects the eyes, growth... more...

Description from OMIM:47 261540,604229

GeneReviews summary for peters-plus

Aliases & Classifications for Peters Plus Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Cardiovascular, Metabolic


Characteristics (Orphanet epidemiological data):

49
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 43 21
peters anomaly 43 20 22 47 49
krause-kivlin syndrome 43 21 61
peters-plus syndrome 19 47 49
peters anomaly with short limb dwarfism 43 49
peters anomaly-short limb dwarfism syndrome 21
krause-van schooneveld-kivlin syndrome 21
peters congenital glaucoma 49
peters' plus syndrome 21
peters'-plus syndrome 21
anomaly peters 45


External Ids:

ICD10 via Orphanet26 Q13.4
MESH via Orphanet36 C537884

Related Diseases for Peters Plus Syndrome

Sources:
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 56)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia30.3FOXC1, PITX2, PAX6
2axenfeld-rieger syndrome30.2CYP1B1, PITX2, FOXC1
3coloboma10.3
4short syndrome10.3
5corpus callosum agenesis10.3
6peters anomaly - cataract10.3
7congenital aphakia10.2
8corneal staphyloma10.2
9persistent hyperplastic primary vitreous10.2
10dandy-walker syndrome10.2
11congenital hypothyroidism10.2
12brachydactyly10.2
13hypoplastic left heart syndrome10.2
14cleft palate10.2
15n syndrome10.2
16dwarfism10.2
17encephalocele10.2
18growth hormone deficiency10.2
19kid syndrome10.2
20myelomeningocele10.2
21short stature10.2
22multiple intestinal atresia10.0
23unilateral retinoblastoma10.0
24buphthalmos10.0
25digeorge syndrome10.0
26polydactyly10.0
27microcephaly10.0
28dextrocardia10.0
29intestinal atresia10.0
30micro syndrome10.0
31polymicrogyria10.0
32bilateral perisylvian polymicrogyria10.0
33congenital contractures10.0
34glaucoma, congenital10.0
35iris hypoplasia and glaucoma10.0FOXC1
36primary congenital glaucoma10.0CYP1B1
37blindness10.0FOXC1
38keratopathy10.0PAX6
39medulloblastoma10.0PAX6, CYP1B1
40cataract10.0PAX6, TGFB2
41primary open angle glaucoma10.0CYP1B1, TGFB2
42open-angle glaucoma10.0TGFB2, CYP1B1
43congenital heart defect10.0FOXC1, PITX2
44glaucoma 3, primary congenital, d10.0PAX6, FOXC1, CYP1B1
45lung cancer10.0HDAC9
46developmental disabilities10.0PAX6, FOXC1, PITX2
47pancreatic cancer10.0HDAC9, TGFB2
48astrocytoma10.0TGFB2, PAX6, CYP1B1
49eye disease10.0TGFB2, PAX6, PITX2, FOXC1
50adenoma10.0PITX2, HDAC9, CYP1B1

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



Diseases related to peters plus syndrome

Clinical Features for Peters Plus Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

261540,604229

Clinical synopsis from OMIM:

261540

Symptoms:

49 (show all 72)
  • frontal bossing/prominent forehead
  • 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
  • nystagmus
  • early death/lethality
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification
  • depressed nasal bridge
  • dental malocclusion
  • inguinal/inguinoscrotal/crural hernia
  • short/small nose
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • umbilical hernia
  • 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
  • long philtrum
  • micrognathia/retrognathia/micrognathism/retrognathism
  • 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
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • intrauterine growth retardation
  • macrostomia/big mouth
  • clinodactyly of fifth finger
  • multicystic kidney/renal dysplasia
  • glaucoma
  • agenesis/hypoplasia/aplasia of kidneys
  • coloboma of iris
  • cleft lip and palate
  • cardiac septal defect
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • uterine/uterus/fallopian tubes anomalies
  • polyhydramnios
  • preauricular/branchial tags/appendages
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • conductive deafness/hearing loss
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • round face
  • hypospadias/epispadias/bent penis
  • short limbs/micromelia/brachymelia
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • thin/retracted lips
  • blepharophimosis/short palpebral fissures
  • sacral sinus/dimple
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • spina bifida occulta
  • iridocorneal/iridolenticular synechiae
  • syndactyly of toes
  • microcornea
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • hypoplastic mandibula/partial absence of the mandibula
  • short columella/depressed nasal tip
  • anterior chamber anomaly
  • exaggerated cupid bows
  • intestinal/bowel fistulae

Drugs & Therapeutics for Peters Plus Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
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

Animal Models for Peters Plus Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Peters Plus Syndrome

Genetic Variations for Peters Plus Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Peters Plus Syndrome:

63
id Symbol AA change Variation SNP ID
1FOXC1p.Phe112SerVAR_007815
2PAX6p.Arg26GlyVAR_003810
3PAX6p.Val53AspVAR_008700
4PAX6p.Ser363ProVAR_017544

Expression for genes affiliated with Peters Plus Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 4Cell Signaling Technology
See all sources

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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Peters Plus Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1tcdd459.6TGFB2, CYP1B1
2benzo(a)pyrene459.5TGFB2, CYP1B1
3mitoxantrone45 50 1111.3CYP1B1, HDAC9
44-hydroxytamoxifen459.3CYP1B1, TGFB2
5oxaliplatin45 50 1111.2CYP1B1, HDAC9
6theophylline45 29 11 2411.9CYP1B1, HDAC9
7resveratrol45 60 11 2411.9TGFB2, CYP1B1, HDAC9
85fluorouracil458.9HDAC9, CYP1B1, TGFB2
9n acetylcysteine458.8HDAC9, CYP1B1, TGFB2
10tamoxifen45 50 29 1111.8TGFB2, CYP1B1, HDAC9
11estradiol45 11 2410.7HDAC9, CYP1B1, TGFB2
12cyclic amp45 249.5TGFB2, HDAC9, PITX2
13glutamate458.4TGFB2, PAX6, CYP1B1, HDAC9
14retinoic acid45 249.4HDAC9, CYP1B1, PAX6, TGFB2
15oligonucleotide458.4PITX2, HDAC9, CYP1B1, TGFB2
16glucose458.3PITX2, HDAC9, PAX6, TGFB2
17serine457.9TGFB2, PAX6, CYP1B1, HDAC9, PITX2

GO Terms for genes affiliated with Peters Plus Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Peters Plus Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet