MCID: PTR006
MIFTS: 68

Peters Plus Syndrome malady

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

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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 based summary: Peters Plus Syndrome, also known as peters anomaly, is related to aniridia and axenfeld-rieger syndrome, and has symptoms including brachycephaly/flat occiput, round face and micrognathia/retrognathia/micrognathism/retrognathism. 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:42 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...

Descriptions from OMIM:46 261540,604229

GeneReviews summary for peters-plus

Aliases & Classifications for Peters Plus Syndrome

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 35MESH via Orphanet
See all sources

Peters Plus Syndrome, Aliases & Descriptions:

Name: Peters Plus Syndrome 19 42 21 48
Peters Anomaly 42 20 22 21 46 48
Krause-Kivlin Syndrome 42 21 48 62
Krause-Van Schooneveld-Kivlin Syndrome 21 48 62
Peters Anomaly with Short Limb Dwarfism 42 48
Peters Congenital Glaucoma 21 48
 
Peters-Plus Syndrome 19 46
Peters Anomaly-Short Limb Dwarfism Syndrome 21
Irido-Corneo-Trabecular Dysgenesis 21
Peters'-Plus Syndrome 21
Peters' Plus Syndrome 21
Anomaly Peters 44


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

ICD10 via Orphanet26 Q13.4
MESH via Orphanet35 C537884

Related Diseases for Peters Plus Syndrome

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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 syndrome30.2PITX2, CYP1B1, FOXC1
3cataract30.1PAX6, TGFB2
4retinoblastoma29.8HDAC9, TGFB2, PAX6
5keratopathy10.4PAX6
6primary congenital glaucoma10.4CYP1B1
7anophthalmia/microphthalmia10.4PITX2
8congenital disorder of glycosylation10.4
9agenesis of the corpus callosum10.4
10coloboma10.3
11corneal staphyloma10.2
12congenital aphakia10.2
13chorioretinitis10.2
14retinitis10.2
15persistent hyperplastic primary vitreous10.2
16peters anomaly - cataract10.2
17hydrocephalus10.2
18hypoplastic left heart syndrome10.2
19cleft lip10.2
20congenital hypothyroidism10.2
21brachydactyly10.2
22hypothyroidism10.2
23dwarfism10.2
24encephalocele10.2
25growth hormone deficiency10.2
26myelomeningocele10.2
27short stature10.2
28multiple intestinal atresia10.1
29polydactyly10.1
30retinopathy of prematurity10.1
31dextrocardia10.1
32unilateral retinoblastoma10.1
33microcephaly10.1
34intestinal atresia10.1
35choroiditis10.1
36buphthalmos10.1
37digeorge syndrome10.1
38galactosemia10.1
39polymicrogyria10.1
40bilateral perisylvian polymicrogyria10.1
41congenital contractures10.1
42congenital heart disease10.1FOXC1, PITX2
43primary open angle glaucoma10.0TGFB2, CYP1B1
44open-angle glaucoma10.0TGFB2, CYP1B1
45glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.0FOXC1, PAX6, CYP1B1
46developmental disabilities9.9PITX2, PAX6, FOXC1
47adenoma9.9HDAC9, PITX2, CYP1B1
48astrocytoma9.8PAX6, TGFB2, CYP1B1
49embryonal cancer9.8PAX6, TGFB2
50glioblastoma9.8HDAC9, 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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Symptoms by clinical synopsis from OMIM:

261540

Clinical features from OMIM:

261540,604229

Symptoms:

48 (show all 72)
  • brachycephaly/flat occiput
  • round face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • anterior chamber anomaly
  • iridocorneal/iridolenticular synechiae
  • corneal clouding/opacity/vascularisation
  • short columella/depressed nasal tip
  • thin/retracted lips
  • exaggerated cupid bows
  • long philtrum
  • short limbs/micromelia/brachymelia
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • short foot/brachydactyly of toes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • frontal bossing/prominent forehead
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • microcornea
  • cataract/lens opacification
  • nystagmus
  • 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
  • syndactyly of toes
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • 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
  • short/small nose
  • depressed nasal bridge
  • anteverted nares/nostrils
  • macrostomia/big mouth
  • low set ears/posteriorly rotated ears
  • conductive deafness/hearing loss
  • abnormally placed nipples
  • spina bifida occulta
  • sacral sinus/dimple
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • intestinal/bowel fistulae
  • 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
  • uterine/uterus/fallopian tubes anomalies
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • early death/lethality
  • polyhydramnios
  • anomalies of eyes and vision
  • corneal dystrophy
  • hypoplastic mandibula/partial absence of the mandibula
  • dental malocclusion
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • anomalies of teeth and dentition

HPO human phenotypes related to Peters Plus Syndrome:

(show all 147)
id Description Frequency HPO Source Accession
1 corneal opacity hallmark (90%) HP:0007957
2 microcornea hallmark (90%) HP:0000482
3 thin vermilion border hallmark (90%) HP:0000233
4 round face hallmark (90%) HP:0000311
5 long philtrum hallmark (90%) HP:0000343
6 micrognathia hallmark (90%) HP:0000347
7 glaucoma hallmark (90%) HP:0000501
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 intrauterine growth retardation hallmark (90%) HP:0001511
10 short toe hallmark (90%) HP:0001831
11 exaggerated cupid's bow hallmark (90%) HP:0002263
12 micromelia hallmark (90%) HP:0002983
13 clinodactyly of the 5th finger hallmark (90%) HP:0004209
14 short stature hallmark (90%) HP:0004322
15 opacification of the corneal stroma hallmark (90%) HP:0007759
16 anterior chamber synechiae hallmark (90%) HP:0007833
17 cognitive impairment hallmark (90%) HP:0100543
18 congenital glaucoma common (75%) HP:0001087
19 corneal dystrophy typical (50%) HP:0001131
20 cryptorchidism typical (50%) HP:0000028
21 oral cleft typical (50%) HP:0000202
22 hypertelorism typical (50%) HP:0000316
23 preauricular skin tag typical (50%) HP:0000384
24 webbed neck typical (50%) HP:0000465
25 microcornea typical (50%) HP:0000482
26 cataract typical (50%) HP:0000518
27 blepharophimosis typical (50%) HP:0000581
28 upslanted palpebral fissure typical (50%) HP:0000582
29 nystagmus typical (50%) HP:0000639
30 abnormality of the cardiac septa typical (50%) HP:0001671
31 toe syndactyly typical (50%) HP:0001770
32 frontal bossing typical (50%) HP:0002007
33 abnormality of the pulmonary artery typical (50%) HP:0004414
34 displacement of the external urethral meatus typical (50%) HP:0100627
35 nystagmus 32% HP:0000639
36 intellectual disability, progressive 20% HP:0006887
37 strabismus 16% HP:0000486
38 micrognathia occasional (7.5%) HP:0000347
39 cataract occasional (7.5%) HP:0000518
40 nystagmus occasional (7.5%) HP:0000639
41 dental malocclusion occasional (7.5%) HP:0000689
42 opacification of the corneal stroma occasional (7.5%) HP:0007759
43 aplasia/hypoplasia of the lens occasional (7.5%) HP:0008063
44 multicystic kidney dysplasia occasional (7.5%) HP:0000003
45 abnormality of female internal genitalia occasional (7.5%) HP:0000008
46 abnormality of female external genitalia occasional (7.5%) HP:0000055
47 abnormality of the ureter occasional (7.5%) HP:0000069
48 wide mouth occasional (7.5%) HP:0000154
49 microcephaly occasional (7.5%) HP:0000252
50 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
51 conductive hearing impairment occasional (7.5%) HP:0000405
52 anteverted nares occasional (7.5%) HP:0000463
53 visual impairment occasional (7.5%) HP:0000505
54 iris coloboma occasional (7.5%) HP:0000612
55 optic atrophy occasional (7.5%) HP:0000648
56 anterior hypopituitarism occasional (7.5%) HP:0000830
57 sacral dimple occasional (7.5%) HP:0000960
58 umbilical hernia occasional (7.5%) HP:0001537
59 polyhydramnios occasional (7.5%) HP:0001561
60 ventriculomegaly occasional (7.5%) HP:0002119
61 cerebral cortical atrophy occasional (7.5%) HP:0002120
62 short nose occasional (7.5%) HP:0003196
63 spina bifida occulta occasional (7.5%) HP:0003298
64 abnormality of the nipple occasional (7.5%) HP:0004404
65 depressed nasal bridge occasional (7.5%) HP:0005280
66 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
67 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
68 urogenital fistula occasional (7.5%) HP:0100589
69 intestinal fistula occasional (7.5%) HP:0100819
70 autosomal recessive inheritance HP:0000007
71 hypoplasia of the uterus HP:0000013
72 cryptorchidism HP:0000028
73 hypospadias HP:0000047
74 hypoplastic labia majora HP:0000059
75 clitoral hypoplasia HP:0000060
76 ureteral duplication HP:0000073
77 hydronephrosis HP:0000126
78 cleft palate HP:0000175
79 short lingual frenulum HP:0000200
80 cleft upper lip HP:0000204
81 thin upper lip vermilion HP:0000219
82 hydrocephalus HP:0000238
83 microcephaly HP:0000252
84 macrocephaly HP:0000256
85 wide anterior fontanel HP:0000260
86 round face HP:0000311
87 hypertelorism HP:0000316
88 long philtrum HP:0000343
89 micrognathia HP:0000347
90 stenosis of the external auditory canal HP:0000402
91 protruding ear HP:0000411
92 webbed neck HP:0000465
93 broad neck HP:0000475
94 retinal coloboma HP:0000480
95 glaucoma HP:0000501
96 ptosis HP:0000508
97 cataract HP:0000518
98 myopia HP:0000545
99 upslanted palpebral fissure HP:0000582
100 iris coloboma HP:0000612
101 nystagmus HP:0000639
102 peters anomaly HP:0000659
103 agenesis of maxillary lateral incisor HP:0000690
104 pectus excavatum HP:0000767
105 single transverse palmar crease HP:0000954
106 biliary tract abnormality HP:0001080
107 syndactyly HP:0001159
108 seizures HP:0001250
109 agenesis of corpus callosum HP:0001274
110 craniosynostosis HP:0001363
111 joint laxity HP:0001388
112 intrauterine growth retardation HP:0001511
113 umbilical hernia HP:0001537
114 diastasis recti HP:0001540
115 polyhydramnios HP:0001561
116 ventricular septal defect HP:0001629
117 defect in the atrial septum HP:0001631
118 pulmonic stenosis HP:0001642
119 pes cavus HP:0001761
120 short foot HP:0001773
121 frontal bossing HP:0002007
122 cerebral atrophy HP:0002059
123 ventriculomegaly HP:0002119
124 facial hypertrichosis HP:0002219
125 exaggerated cupid's bow HP:0002263
126 scoliosis HP:0002650
127 hemivertebrae HP:0002937
128 limited elbow movement HP:0002996
129 square pelvis HP:0003278
130 birth length less than 3rd percentile HP:0003561
131 clinodactyly of the 5th finger HP:0004209
132 short palm HP:0004279
133 decreased body weight HP:0004325
134 preauricular pit HP:0004467
135 bilobate gallbladder HP:0005608
136 wide intermamillary distance HP:0006610
137 microtia, second degree HP:0008569
138 hypoplasia of the vagina HP:0008726
139 feeding difficulties in infancy HP:0008872
140 postnatal growth retardation HP:0008897
141 rhizomelia HP:0008905
142 proximal placement of thumb HP:0009623
143 short metacarpal HP:0010049
144 short metatarsal HP:0010743
145 conical incisor HP:0011065
146 prominent forehead HP:0011220
147 autosomal recessive inheritance HP:0000007

Drugs & Therapeutics for Peters Plus Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Peters Plus Syndrome

Genetic Tests for Peters Plus Syndrome

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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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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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Publications for Peters Plus Syndrome

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Articles related to Peters Plus Syndrome:

(show all 32)
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
Ultrastructure of anterior lens capsule in Peters' plus syndrome. (17293788)
2007
20
Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. (16909395)
2006
21
Congenital hypothyroidism in Peters plus syndrome. (16754209)
2006
22
Prenatal sonographic findings in Peters-plus syndrome. (15912477)
2005
23
Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS). (14735587)
2004
24
The Peters' plus syndrome: a review. (12119218)
2002
25
Peters'-Plus syndrome: report on an unusual case. (7617402)
1994
26
Severe presentation of Peters'-Plus syndrome. (7894743)
1994
27
Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance. (8305962)
1993
28
Peters' plus syndrome. (8368243)
1993
29
Peters Plus Syndrome (20301637)
1993
30
Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder? (7508317)
1993
31
Japanese girl with Krause-van Schooneveld-Kivlin syndrome: Peters anomaly with short-limb dwarfism: Peter-Plus syndrome. (1481836)
1992
32
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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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:

6 (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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Expression patterns in normal tissues for genes affiliated with Peters Plus Syndrome

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Pathways for genes affiliated with Peters Plus Syndrome

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Compounds for genes affiliated with Peters Plus Syndrome

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

(show all 26)
idCompoundScoreTop Affiliating Genes
1mitoxantrone44 50 1111.8HDAC9, CYP1B1
2oxaliplatin44 50 1111.8CYP1B1, HDAC9
3theophylline44 28 24 1112.7HDAC9, CYP1B1
4valproic acid44 50 24 1112.6CYP1B1, HDAC9
5tcdd449.5TGFB2, CYP1B1
6benzo(a)pyrene449.5TGFB2, CYP1B1
74-hydroxytamoxifen449.4TGFB2, CYP1B1
8p003449.2TGFB2, CYP1B1
9resveratrol44 61 24 1112.0TGFB2, CYP1B1, HDAC9
105fluorouracil449.0TGFB2, CYP1B1, HDAC9
11n acetylcysteine449.0HDAC9, CYP1B1, TGFB2
12tamoxifen44 50 28 1112.0HDAC9, CYP1B1, TGFB2
13estradiol44 24 1111.0TGFB2, CYP1B1, HDAC9
14progesterone44 28 61 24 1112.9TGFB2, CYP1B1, HDAC9
15cyclic amp44 249.9HDAC9, PITX2, TGFB2
16testosterone44 61 24 1111.8HDAC9, CYP1B1, TGFB2
17steroid448.8TGFB2, CYP1B1, HDAC9
18glutamate448.6HDAC9, CYP1B1, TGFB2, PAX6
19phosphatidylinositol448.6TGFB2, PITX2, HDAC9
20retinoic acid44 249.6PAX6, TGFB2, CYP1B1, HDAC9
21dexamethasone44 50 28 1111.6HDAC9, CYP1B1, TGFB2
22glucose448.5HDAC9, PITX2, TGFB2, PAX6
23oligonucleotide448.5HDAC9, PITX2, CYP1B1, TGFB2
24vegf448.4PAX6, TGFB2, HDAC9
25tyrosine448.3TGFB2, CYP1B1, PITX2, HDAC9
26serine448.1HDAC9, PITX2, CYP1B1, TGFB2, PAX6

GO Terms for genes affiliated with Peters Plus Syndrome

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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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet