MCID: FRY006
MIFTS: 54

Fryns Microphthalmia Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Fryns Microphthalmia Syndrome

MalaCards integrated aliases for Fryns Microphthalmia Syndrome:

Name: Fryns Microphthalmia Syndrome 56 52 58
Anophthalmia 74 29 54 6
Microphthalmia with Facial Clefting 56 52 58
Anophthalmia Plus Syndrome 52 58 71
Leichtman Wood Rohn Syndrome 52 71
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 52
Fryns Anophthalmia Syndrome 52
Anophthalmia-Plus Syndrome 56

Characteristics:

Orphanet epidemiological data:

58
anophthalmia plus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fryns microphthalmia syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 600776
MESH via Orphanet 44 C537767
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1833339
Orphanet 58 ORPHA1104
MedGen 41 C1833339
UMLS 71 C1833339 C2931390

Summaries for Fryns Microphthalmia Syndrome

NIH Rare Diseases : 52 Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate . Other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect , midline abdominal wall defects , clinodactyly , eye colobomas and congenital glaucoma . It has been suggested that APS is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified.

MalaCards based summary : Fryns Microphthalmia Syndrome, also known as anophthalmia, is related to microphthalmia, isolated 3 and colobomatous microphthalmia. An important gene associated with Fryns Microphthalmia Syndrome is OTX2 (Orthodenticle Homeobox 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, pituitary and brain, and related phenotypes are anophthalmia and hypertelorism

Wikipedia : 74 Anophthalmia, (Greek: ??????????, "without eye"), is the medical term for the absence of one or both... more...

More information from OMIM: 600776

Related Diseases for Fryns Microphthalmia Syndrome

Diseases related to Fryns Microphthalmia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 273)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 3 31.6 VSX2 SOX2 PAX6 OTX2
2 colobomatous microphthalmia 31.3 VSX2 PAX6 OTX2 HESX1
3 microphthalmia, isolated 2 31.2 VSX2 SOX2 PAX6 OTX2
4 pituitary hypoplasia 29.9 OTX2 HESX1
5 charge syndrome 29.8 SOX2 OTX2
6 combined pituitary hormone deficiency 29.4 OTX2 HESX1
7 congenital hypopituitarism 29.3 PAX6 HESX1
8 holoprosencephaly 29.2 PAX6 OTX2 HESX1
9 eye disease 29.1 VSX2 PAX6 OTX2
10 cataract 29.1 VSX2 SOX2 PAX6 OTX2
11 fundus dystrophy 29.1 VSX2 PAX6 OTX2
12 isolated growth hormone deficiency 28.8 PAX6 OTX2 HESX1
13 periventricular nodular heterotopia 28.8 PAX6 HESX1
14 aniridia 1 28.7 VSX2 SOX2 PAX6 OTX2
15 septooptic dysplasia 28.6 SOX2 PAX6 OTX2 HESX1
16 hypopituitarism 28.5 SOX2 PAX6 OTX2 HESX1
17 microphthalmia 28.4 VSX2 SOX2 PAX6 OTX2 HESX1
18 coloboma of macula 27.9 VSX2 SOX2 PAX6 OTX2 HESX1
19 microphthalmia, syndromic 3 12.4
20 microphthalmia, syndromic 9 12.4
21 microphthalmia with limb anomalies 12.4
22 syndromic microphthalmia-anophthalmia-coloboma 12.3
23 anophthalmia megalocornea cardiopathy skeletal anomalies 12.2
24 anophthalmos with limb anomalies 12.2
25 anophthalmia cleft palate micrognathia 12.2
26 anophthalmia esophageal atresia cryptorchidism 12.2
27 obsolete: anophthalmia-esophageal-genital syndrome syndrome 12.2
28 microphthalmia, syndromic 6 12.2
29 microphthalmia, syndromic 5 12.1
30 microphthalmia, syndromic 1 11.8
31 focal dermal hypoplasia 11.6
32 microphthalmia, syndromic 2 11.6
33 microphthalmia, syndromic 12 11.6
34 linear skin defects with multiple congenital anomalies 1 11.5
35 microphthalmia, isolated 1 11.5
36 microphthalmia, isolated 4 11.5
37 arroyo garcia cimadevilla syndrome 11.4
38 samson viljoen syndrome 11.4
39 fraser syndrome 1 11.4
40 branchiooculofacial syndrome 11.4
41 cerebrooculonasal syndrome 11.4
42 manitoba oculotrichoanal syndrome 11.3
43 microphthalmia, syndromic 13 11.2
44 microphthalmia, syndromic 8 11.2
45 bosma arhinia microphthalmia syndrome 11.2
46 microphthalmia, syndromic 11 11.2
47 coloboma, ocular, autosomal dominant 11.1
48 frontonasal dysplasia 1 11.1
49 coloboma, ocular, autosomal recessive 11.1
50 microphthalmia, isolated, with coloboma 1 11.1

Graphical network of the top 20 diseases related to Fryns Microphthalmia Syndrome:



Diseases related to Fryns Microphthalmia Syndrome

Symptoms & Phenotypes for Fryns Microphthalmia Syndrome

Human phenotypes related to Fryns Microphthalmia Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 abnormal nasal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005105
4 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
5 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
6 facial cleft 58 31 frequent (33%) Frequent (79-30%) HP:0002006
7 bilateral cleft lip and palate 58 31 frequent (33%) Frequent (79-30%) HP:0002744
8 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
9 aplasia/hypoplasia of the earlobes 58 31 occasional (7.5%) Occasional (29-5%) HP:0009906
10 spina bifida 58 31 occasional (7.5%) Occasional (29-5%) HP:0002414
11 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
12 vertebral segmentation defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0003422
13 deviation of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004097
14 eyelid coloboma 31 occasional (7.5%) HP:0000625
15 macrotia 31 HP:0000400
16 cleft palate 58 Frequent (79-30%)
17 non-midline cleft lip 58 Frequent (79-30%)
18 microphthalmia 31 HP:0000568
19 cleft eyelid 58 Occasional (29-5%)
20 abnormality of the vertebral column 31 HP:0000925
21 abnormality of the genitourinary system 31 HP:0000119
22 abnormality of the ear 31 HP:0000598
23 neural tube defect 31 HP:0045005

Symptoms via clinical synopsis from OMIM:

56
Ears:
macrotia
absent ear lobule

Mouth:
bilateral cleft lip/palate

Spine:
open sacral neural tube defect

Eyes:
bilateral anophthalmia

Facies:
bilateral lateral facial cleft

G U:
uterus unicornis

Clinical features from OMIM:

600776

MGI Mouse Phenotypes related to Fryns Microphthalmia Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.83 HESX1 OTX2 PAX6 SOX2 VSX2
2 craniofacial MP:0005382 9.78 HESX1 OTX2 PAX6 SOX2
3 nervous system MP:0003631 9.77 HESX1 OTX2 PAX6 SOX2 VSX2
4 embryo MP:0005380 9.76 HESX1 OTX2 PAX6 SOX2
5 hearing/vestibular/ear MP:0005377 9.71 HESX1 OTX2 PAX6 SOX2
6 normal MP:0002873 9.62 HESX1 OTX2 PAX6 SOX2
7 pigmentation MP:0001186 9.56 OTX2 PAX6 SOX2 VSX2
8 respiratory system MP:0005388 9.46 HESX1 OTX2 PAX6 SOX2
9 taste/olfaction MP:0005394 9.26 HESX1 OTX2 PAX6 SOX2
10 vision/eye MP:0005391 9.02 HESX1 OTX2 PAX6 SOX2 VSX2

Drugs & Therapeutics for Fryns Microphthalmia Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders Completed NCT00011843
2 Health- and Vision-Related Quality of Life in Children and Young People With Childhood Glaucoma, Childhood Cataract and Congenital Eye Defects Completed NCT02490267
3 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847

Search NIH Clinical Center for Fryns Microphthalmia Syndrome

Genetic Tests for Fryns Microphthalmia Syndrome

Genetic tests related to Fryns Microphthalmia Syndrome:

# Genetic test Affiliating Genes
1 Anophthalmia 29

Anatomical Context for Fryns Microphthalmia Syndrome

MalaCards organs/tissues related to Fryns Microphthalmia Syndrome:

40
Eye, Pituitary, Brain, Heart, Kidney, Bone, Retina

Publications for Fryns Microphthalmia Syndrome

Articles related to Fryns Microphthalmia Syndrome:

(show top 50) (show all 917)
# Title Authors PMID Year
1
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. 61 56
18564500 2008
2
Anophthalmia-plus syndrome: a clinical report and review of the literature. 61 56
17152069 2007
3
A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. 61 56
16080293 2005
4
Fryns "Anophthalmia-Plus" syndrome associated with developmental regression. 61 56
12514364 2003
5
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. 61 56
9375920 1997
6
Apparently new "anophthalmia-plus" syndrome in sibs. 61 56
8533799 1995
7
Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect. 61 56
8160751 1994
8
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 54 61
20396904 2010
9
Novel SOX2 partner-factor domain mutation in a four-generation family. 54 61
19471311 2009
10
Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. 54 61
19397404 2009
11
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. 54 61
18628516 2008
12
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 54 61
18285410 2008
13
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. 54 61
18385377 2008
14
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 54 61
18385794 2008
15
Anophthalmia and microphthalmia. 54 61
18039390 2007
16
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. 54 61
17522144 2007
17
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 54 61
17661825 2007
18
Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. 54 61
16892407 2006
19
SOX2 is a dose-dependent regulator of retinal neural progenitor competence. 54 61
16651659 2006
20
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. 54 61
15503273 2004
21
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 54 61
15257456 2004
22
HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. 54 61
10626545 1999
23
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. 54 61
7951315 1994
24
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. 61
32015378 2020
25
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. 61
32032630 2020
26
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye. 61
31913554 2020
27
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
28
Orbital Glial Heterotopia: A Report of 2 Cases and Review of the Literature. 61
31348112 2020
29
Congenital microcephaly-linked CDK5RAP2 affects eye development. 61
31355417 2020
30
The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development. 61
31816041 2020
31
The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development. 61
31814023 2019
32
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia. 61
31809626 2019
33
Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation. 61
31817535 2019
34
Structural and functional brain reorganisation due to blindness: The special case of bilateral congenital anophthalmia. 61
31626815 2019
35
Genetics and functions of the retinoic acid pathway, with special emphasis on the eye. 61
31796115 2019
36
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. 61
31700164 2019
37
National population-based estimates for major birth defects, 2010-2014. 61
31580536 2019
38
Genome-wide association studies of structural birth defects: A review and commentary. 61
31654503 2019
39
The molecular basis of congenital hypopituitarism and related disorders. 61
31702014 2019
40
Anophthalmia and Microphthalmia. 61
31679591 2019
41
The Use of Umbilical Amnion for Conjunctival Socket, Fornix, and Eyelid Margin Reconstruction. 61
31770177 2019
42
A combination insecticide at sub-lethal dose debilitated the expression pattern of crucial signalling molecules that facilitate craniofacial patterning in domestic chick Gallus domesticus. 61
31593814 2019
43
SCF/SCFR signaling plays an important role in the early morphogenesis and neurogenesis of human embryonic neural retina. 61
31548215 2019
44
Combination of fluoride and endosulfan induced teratogenicity and developmental toxicity in Swiss albino mice exposed during organogenesis. 61
31594477 2019
45
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. 61
30762128 2019
46
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. 61
30374660 2019
47
Mouse models for microphthalmia, anophthalmia and cataracts. 61
30919050 2019
48
[Case report of familial microtia combined with tetralogy of Fallot and scoliosis and literature review]. 61
31446699 2019
49
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. 61
29464339 2019
50
Genetics of congenital eye malformations: insights from chick experimental embryology. 61
29980841 2019

Variations for Fryns Microphthalmia Syndrome

ClinVar genetic disease variations for Fryns Microphthalmia Syndrome:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OTX2 NM_021728.4(OTX2):c.296C>A (p.Ala99Asp)SNV Pathogenic 430900 rs1555350254 14:57269051-57269051 14:56802333-56802333
2 PAX6 NM_000280.4(PAX6):c.1137A>C (p.Thr379=)SNV Conflicting interpretations of pathogenicity 290049 rs143477661 11:31812304-31812304 11:31790756-31790756
3 VSX2 NM_182894.3(VSX2):c.679C>T (p.Arg227Trp)SNV Uncertain significance 14862 rs121912545 14:74726404-74726404 14:74259701-74259701
4 PAX6 NM_019040.5(ELP4):c.*2334T>GSNV Uncertain significance 304299 rs886048183 11:31807406-31807406 11:31785858-31785858
5 PAX6 NM_019040.5(ELP4):c.*2407C>ASNV Uncertain significance 304300 rs886048184 11:31807479-31807479 11:31785931-31785931
6 PAX6 NM_019040.5(ELP4):c.*3703_*3705deldeletion Uncertain significance 304320 rs886048189 11:31808775-31808777 11:31787227-31787229
7 PAX6 NM_019040.5(ELP4):c.*4889G>ASNV Uncertain significance 304337 rs886048196 11:31809961-31809961 11:31788413-31788413
8 PAX6 NM_019040.5(ELP4):c.*5016T>GSNV Uncertain significance 304339 rs776894983 11:31810088-31810088 11:31788540-31788540
9 PAX6 NM_000280.4(PAX6):c.142-8C>TSNV Uncertain significance 304360 rs886048203 11:31823332-31823332 11:31801784-31801784
10 PAX6 NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTGindel Uncertain significance 304290 rs886048180 11:31806561-31806563 11:31785013-31785015
11 PAX6 NM_019040.5(ELP4):c.*2049A>GSNV Uncertain significance 304296 rs886048181 11:31807121-31807121 11:31785573-31785573
12 PAX6 NM_019040.5(ELP4):c.*2502G>ASNV Uncertain significance 304302 rs886048185 11:31807574-31807574 11:31786026-31786026
13 PAX6 NM_019040.5(ELP4):c.*3859G>ASNV Uncertain significance 304323 rs886048190 11:31808931-31808931 11:31787383-31787383
14 PAX6 NM_019040.5(ELP4):c.*4017A>GSNV Uncertain significance 304329 rs886048193 11:31809089-31809089 11:31787541-31787541
15 PAX6 NM_019040.5(ELP4):c.*4023C>ASNV Uncertain significance 304330 rs886048194 11:31809095-31809095 11:31787547-31787547
16 PAX6 NM_019040.5(ELP4):c.*4025C>GSNV Uncertain significance 304331 rs886048195 11:31809097-31809097 11:31787549-31787549
17 PAX6 NM_019040.5(ELP4):c.*5357A>GSNV Uncertain significance 304343 rs886048197 11:31810429-31810429 11:31788881-31788881
18 PAX6 NM_019040.5(ELP4):c.*5471T>CSNV Uncertain significance 304344 rs886048198 11:31810543-31810543 11:31788995-31788995
19 PAX6 NM_019040.5(ELP4):c.*6054A>TSNV Uncertain significance 304350 rs774392481 11:31811126-31811126 11:31789578-31789578
20 PAX6 NM_019040.5(ELP4):c.*6075A>GSNV Uncertain significance 304351 rs766518284 11:31811147-31811147 11:31789599-31789599
21 PAX6 NM_019040.5(ELP4):c.*6203C>TSNV Uncertain significance 304353 rs886048199 11:31811275-31811275 11:31789727-31789727
22 PAX6 NM_019040.5(ELP4):c.*6227dupduplication Uncertain significance 304354 rs886048200 11:31811298-31811299 11:31789750-31789751
23 PAX6 NM_000280.4(PAX6):c.-368G>ASNV Uncertain significance 304366 rs886048206 11:31832714-31832714 11:31811166-31811166
24 PAX6 NM_000280.4(PAX6):c.-501deldeletion Uncertain significance 304368 rs886048208 11:31832847-31832847 11:31811299-31811299
25 PAX6 NM_019040.5(ELP4):c.*1877A>GSNV Uncertain significance 304294 rs745626044 11:31806949-31806949 11:31785401-31785401
26 PAX6 NM_019040.5(ELP4):c.*2282G>ASNV Uncertain significance 304298 rs886048182 11:31807354-31807354 11:31785806-31785806
27 PAX6 NM_000280.4(PAX6):c.-59G>TSNV Uncertain significance 304361 rs886048204 11:31828404-31828404 11:31806856-31806856
28 PAX6 NM_000280.4(PAX6):c.-147_-146dupduplication Uncertain significance 304363 rs886048205 11:31832392-31832393 11:31810844-31810845
29 PAX6 NM_019040.5(ELP4):c.*3920C>TSNV Uncertain significance 304325 rs886048191 11:31808992-31808992 11:31787444-31787444
30 PAX6 NM_019040.5(ELP4):c.*5519C>TSNV Uncertain significance 304345 rs530259403 11:31810591-31810591 11:31789043-31789043
31 PAX6 NM_019040.5(ELP4):c.*6184A>GSNV Uncertain significance 304352 rs753595935 11:31811256-31811256 11:31789708-31789708
32 PAX6 NM_019040.5(ELP4):c.*3528A>GSNV Uncertain significance 304319 rs143185259 11:31808600-31808600 11:31787052-31787052
33 PAX6 NM_000280.4(PAX6):c.-507T>CSNV Uncertain significance 304369 rs886048209 11:31832853-31832853 11:31811305-31811305
34 PAX6 NM_019040.5(ELP4):c.*2710_*2711CA[2]short repeat Uncertain significance 304306 rs886048186 11:31807781-31807782 11:31786233-31786234
35 PAX6 NM_019040.5(ELP4):c.*3504T>CSNV Uncertain significance 304315 rs886048187 11:31808576-31808576 11:31787028-31787028
36 PAX6 NM_019040.5(ELP4):c.*3523deldeletion Uncertain significance 304318 rs886048188 11:31808595-31808595 11:31787047-31787047
37 PAX6 NM_019040.5(ELP4):c.*3978T>CSNV Uncertain significance 304326 rs886048192 11:31809050-31809050 11:31787502-31787502
38 PAX6 NM_019040.5(ELP4):c.*6053T>ASNV Uncertain significance 304348 rs774473337 11:31811125-31811125 11:31789577-31789577
39 PAX6 NM_019040.5(ELP4):c.*6067deldeletion Uncertain significance 304349 rs200391530 11:31811126-31811126 11:31789578-31789578
40 PAX6 NM_019040.5(ELP4):c.*6303C>GSNV Uncertain significance 304355 rs886048201 11:31811375-31811375 11:31789827-31789827
41 PAX6 NM_000280.4(PAX6):c.547G>C (p.Gly183Arg)SNV Uncertain significance 304358 rs886048202 11:31816313-31816313 11:31794765-31794765
42 PAX6 NM_000280.4(PAX6):c.-430G>CSNV Uncertain significance 304367 rs886048207 11:31832776-31832776 11:31811228-31811228
43 PAX6 NM_019040.5(ELP4):c.*4251G>ASNV Likely benign 304335 rs3026396 11:31809323-31809323 11:31787775-31787775
44 PAX6 NM_019040.5(ELP4):c.*5569G>ASNV Likely benign 304346 rs530931929 11:31810641-31810641 11:31789093-31789093
45 PAX6 NM_019040.5(ELP4):c.*5993G>ASNV Likely benign 304347 rs55756603 11:31811065-31811065 11:31789517-31789517
46 PAX6 NM_019040.5(ELP4):c.*2740G>ASNV Likely benign 304307 rs149777109 11:31807812-31807812 11:31786264-31786264
47 PAX6 NM_019040.5(ELP4):c.*2040G>CSNV Likely benign 304295 rs183115097 11:31807112-31807112 11:31785564-31785564
48 PAX6 NM_019040.5(ELP4):c.*3713A>TSNV Likely benign 304322 rs138881442 11:31808785-31808785 11:31787237-31787237
49 PAX6 NM_019040.5(ELP4):c.*3904G>ASNV Likely benign 304324 rs3026397 11:31808976-31808976 11:31787428-31787428
50 PAX6 NM_000280.4(PAX6):c.-107C>TSNV Likely benign 304362 rs111270711 11:31828452-31828452 11:31806904-31806904

Expression for Fryns Microphthalmia Syndrome

Search GEO for disease gene expression data for Fryns Microphthalmia Syndrome.

Pathways for Fryns Microphthalmia Syndrome

GO Terms for Fryns Microphthalmia Syndrome

Cellular components related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 VSX2 SOX2 PAX6 OTX2 HESX1

Biological processes related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.67 SOX2 PAX6 HESX1
2 positive regulation of transcription, DNA-templated GO:0045893 9.65 SOX2 PAX6 OTX2
3 regulation of transcription, DNA-templated GO:0006355 9.65 VSX2 SOX2 PAX6 OTX2 HESX1
4 response to wounding GO:0009611 9.46 SOX2 PAX6
5 negative regulation of epithelial cell proliferation GO:0050680 9.43 SOX2 PAX6
6 negative regulation of neuron differentiation GO:0045665 9.4 SOX2 PAX6
7 cell fate commitment GO:0045165 9.37 SOX2 PAX6
8 multicellular organism development GO:0007275 9.35 VSX2 SOX2 PAX6 OTX2 HESX1
9 forebrain development GO:0030900 9.33 SOX2 PAX6 OTX2
10 eye development GO:0001654 9.32 SOX2 PAX6
11 pituitary gland development GO:0021983 8.8 SOX2 PAX6 HESX1

Molecular functions related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.55 VSX2 SOX2 PAX6 OTX2 HESX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 PAX6 OTX2 HESX1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.43 SOX2 PAX6 OTX2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 VSX2 SOX2 PAX6 OTX2 HESX1
5 sequence-specific DNA binding GO:0043565 9.02 VSX2 SOX2 PAX6 OTX2 HESX1

Sources for Fryns Microphthalmia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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