MCID: FRY006
MIFTS: 53

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 57 53 59
Anophthalmia 76 29 55 6
Microphthalmia with Facial Clefting 57 53 59
Anophthalmia Plus Syndrome 53 59 73
Leichtman Wood Rohn Syndrome 53 73
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 53
Fryns Anophthalmia Syndrome 53
Anophthalmia-Plus Syndrome 57

Characteristics:

Orphanet epidemiological data:

59
anophthalmia plus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fryns microphthalmia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600776
Orphanet 59 ORPHA1104
UMLS via Orphanet 74 C1833339
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 45 C537767
MedGen 42 C1833339

Summaries for Fryns Microphthalmia Syndrome

NIH Rare Diseases : 53 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 congenitalglaucoma. 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 and microphthalmia, isolated 1. An important gene associated with Fryns Microphthalmia Syndrome is OTX2 (Orthodenticle Homeobox 2), and among its related pathways/superpathways are fMLP Pathway and Mesodermal Commitment Pathway. Affiliated tissues include eye, pituitary and uterus, and related phenotypes are hypertelorism and abnormal nasal morphology

Wikipedia : 76 Anophthalmia, (Greek: αν�?�?θαλμο�?, "without eye"), is the medical term for the absence of one or both... more...

Description 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 116)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 32.6 OTX2 PAX6 SOX2 VSX2
2 microphthalmia, isolated 1 31.3 VSX2 SOX2
3 pituitary hypoplasia 29.9 OTX2 HESX1
4 combined pituitary hormone deficiency 29.5 OTX2 HESX1
5 microphthalmia, syndromic 9 12.2
6 microphthalmia, syndromic 3 12.2
7 microphthalmia with limb anomalies 12.2
8 anophthalmia megalocornea cardiopathy skeletal anomalies 12.1
9 microphthalmia/anophthalmia/coloboma spectrum 12.0
10 anophthalmia cleft palate micrognathia 12.0
11 anophthalmia esophageal atresia cryptorchidism 12.0
12 anophthalmos with limb anomalies 12.0
13 microphthalmia, syndromic 6 11.8
14 microphthalmia, syndromic 5 11.8
15 microphthalmia, isolated 3 11.7
16 microphthalmia, isolated 2 11.4
17 focal dermal hypoplasia 11.4
18 microphthalmia, isolated 4 11.3
19 arroyo garcia cimadevilla syndrome 11.3
20 samson viljoen syndrome 11.3
21 microphthalmia, syndromic 1 11.3
22 manitoba oculotrichoanal syndrome 11.2
23 microphthalmia, syndromic 2 11.1
24 microphthalmia, syndromic 13 11.1
25 linear skin defects with multiple congenital anomalies 1 11.1
26 microphthalmia, syndromic 8 11.1
27 microphthalmia, syndromic 11 11.1
28 microphthalmia, syndromic 12 11.1
29 colobomatous microphthalmia 11.0
30 coloboma, ocular, autosomal dominant 10.9
31 coloboma, ocular, autosomal recessive 10.9
32 microphthalmia, isolated, with coloboma 1 10.9
33 cerebrooculonasal syndrome 10.9
34 microphthalmia/coloboma and skeletal dysplasia syndrome 10.9
35 arhinia choanal atresia microphthalmia 10.9
36 fibular hemimelia 10.9
37 intellectual disability - athetosis - microphthalmia 10.9
38 oculomaxillofacial dysostosis 10.9
39 tracheoesophageal fistula with or without esophageal atresia 10.2
40 esophageal atresia 10.2
41 cleft lip 10.2
42 cleft lip/palate 10.2
43 polydactyly 10.1
44 waardenburg's syndrome 10.1
45 hemifacial microsomia 10.0
46 cryptorchidism, unilateral or bilateral 10.0
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
48 hypogonadotropic hypogonadism 10.0
49 heart disease 10.0
50 hypogonadism 10.0

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



Diseases related to Fryns Microphthalmia Syndrome

Symptoms & Phenotypes for Fryns Microphthalmia Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Fryns Microphthalmia Syndrome:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 abnormal nasal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005105
3 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
4 choanal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0000453
5 spina bifida 59 32 occasional (7.5%) Occasional (29-5%) HP:0002414
6 blepharophimosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000581
7 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
8 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
9 anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000528
10 facial cleft 59 32 frequent (33%) Frequent (79-30%) HP:0002006
11 deviation of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004097
12 aplasia/hypoplasia of the earlobes 59 32 occasional (7.5%) Occasional (29-5%) HP:0009906
13 bilateral cleft lip and palate 59 32 frequent (33%) Frequent (79-30%) HP:0002744
14 macrotia 32 HP:0000400
15 cleft palate 59 Frequent (79-30%)
16 non-midline cleft lip 59 Frequent (79-30%)
17 microphthalmia 32 HP:0000568
18 cleft eyelid 59 Occasional (29-5%)
19 abnormality of the vertebral column 32 HP:0000925
20 abnormality of the genitourinary system 32 HP:0000119
21 abnormality of the ear 32 HP:0000598
22 eyelid coloboma 32 occasional (7.5%) HP:0000625
23 neural tube defect 32 HP:0045005

MGI Mouse Phenotypes related to Fryns Microphthalmia Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.88 HESX1 OTX2 PAX6 SOX2 VSX2
2 mortality/aging MP:0010768 9.83 HESX1 OTX2 PAX6 SOX2 VSX2
3 craniofacial MP:0005382 9.81 HESX1 OTX2 PAX6 SOX2
4 embryo MP:0005380 9.8 HESX1 OTX2 PAX6 SOX2
5 nervous system MP:0003631 9.8 HESX1 OTX2 PAX6 SOX2 VSX2
6 hearing/vestibular/ear MP:0005377 9.76 HESX1 OTX2 PAX6 SOX2
7 normal MP:0002873 9.67 HESX1 OTX2 PAX6 SOX2
8 pigmentation MP:0001186 9.62 OTX2 PAX6 SOX2 VSX2
9 reproductive system MP:0005389 9.56 OTX2 PAX6 SOX2 VSX2
10 respiratory system MP:0005388 9.46 HESX1 OTX2 PAX6 SOX2
11 taste/olfaction MP:0005394 9.26 HESX1 OTX2 PAX6 SOX2
12 vision/eye MP:0005391 9.02 HESX1 OTX2 PAX6 SOX2 VSX2

Drugs & Therapeutics for Fryns Microphthalmia Syndrome

Search Clinical Trials , 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:

41
Eye, Pituitary, Uterus, Heart, Brain, Adrenal Gland, Bone

Publications for Fryns Microphthalmia Syndrome

Articles related to Fryns Microphthalmia Syndrome:

(show top 50) (show all 170)
# Title Authors Year
1
Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports. ( 30153864 )
2018
2
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. ( 30181649 )
2018
3
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. ( 30200890 )
2018
4
An application of data mining to identify potential risk factors for anophthalmia and microphthalmia. ( 30300919 )
2018
5
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. ( 30374660 )
2018
6
Nutrient intake in women before conception and risks of anophthalmia and microphthalmia in their offspring. ( 29504274 )
2018
7
Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009. ( 30070760 )
2018
8
Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review. ( 30075516 )
2018
9
A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss. ( 30262714 )
2018
10
Long-term outcomes after cosmetic customized prostheses and dermis fat graft in congenital anophthalmia: a retrospective multicentre study. ( 30042409 )
2018
11
Congenital Bilateral Anophthalmia: a Case Report and Review of Literature. ( 30515001 )
2018
12
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family. ( 28590501 )
2017
13
Anophthalmia in a Wild Eastern Gray Squirrel (Sciurus carolinensis). ( 28753413 )
2017
14
A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families. ( 28890889 )
2017
15
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies. ( 29260090 )
2017
16
Congenital anophthalmia, emotional deprivation and autistic-like symptomatology: About one case. ( 28051237 )
2016
17
Orbital volume augmentation using expandable hydrogel implants in acquired anophthalmia and phthisis bulbi. ( 26928353 )
2016
18
Congenital Anophthalmia and Binocular Neonatal Enucleation Differently Affect the Proteome of Primary and Secondary Visual Cortices in Mice. ( 27410964 )
2016
19
Orbital Expansion for Congenital Anophthalmia May Be Achievable in Infancy But Not in Childhood. ( 27763969 )
2016
20
Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report. ( 27813502 )
2016
21
Neurochemical changes in the pericalcarine cortex in congenital blindness attributable to bilateral anophthalmia. ( 26180125 )
2015
22
Coexistence of Anal Atresia, Anophthalmia and Intestinal Neuronal Dysplasia Type-A in a Newborn. ( 26500854 )
2015
23
Fryns anophthalmia-plus syndrome: two rare cases. ( 25804017 )
2014
24
Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma. ( 27928292 )
2014
25
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23. ( 24581273 )
2014
26
Prosthodontic and surgical management of anophthalmia: a case report. ( 24605009 )
2014
27
Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging. ( 25071894 )
2014
28
Orbital dermoid in a patient with bilateral anophthalmia: a case and review of the literature. ( 25208063 )
2014
29
Strain differences of the effect of enucleation and anophthalmia on the size and growth of sensory cortices in mice. ( 25242615 )
2014
30
Reconstruction of eyelids with Washio flap in anophthalmia. ( 25484273 )
2014
31
Anophthalmia in a newborn. ( 25651635 )
2014
32
Antenatal identification of isolated anophthalmia. ( 23445150 )
2013
33
Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature. ( 24341146 )
2013
34
Fryns anophthalmia-plus syndrome in an 18-week-old fetus. ( 21675878 )
2012
35
Congenital zygomatico-mandibular fusion (pseudo-syngnathia?) in conjunction with unilateral anophthalmia: review of terminology and classification. ( 21438651 )
2012
36
Tessier 3 cleft with bilateral anophthalmia: case report and surgical treatment. ( 22266226 )
2012
37
Language networks in anophthalmia: maintained hierarchy of processing in 'visual' cortex. ( 22427328 )
2012
38
The fate of the oculomotor system in clinical bilateral anophthalmia. ( 22612860 )
2012
39
The psychosocial benefits of secondary hydroxyapatite orbital implant insertion and prosthesis wearing for patients with anophthalmia. ( 22820443 )
2012
40
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. ( 21416586 )
2011
41
Anophthalmia in fronto-facial-nasal dysplasia. ( 21317770 )
2011
42
Congenital anophthalmia: current concepts in management. ( 21730840 )
2011
43
What experimental embryology can teach us about the development of the extraocular muscles in anophthalmia: at the interface of basic and clinical sciences. ( 21825193 )
2011
44
Anophthalmia: an uncommon manifestation of neurofibromatosis type 1. ( 22134321 )
2011
45
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. ( 20396904 )
2010
46
Congenital anophthalmia: a review of dealing with volume. ( 20616923 )
2010
47
Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association. ( 20704474 )
2010
48
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? ( 19839040 )
2009
49
Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex. ( 19892766 )
2009
50
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. ( 18564500 )
2008

Variations for Fryns Microphthalmia Syndrome

ClinVar genetic disease variations for Fryns Microphthalmia Syndrome:

6 (show top 50) (show all 170)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
2 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
3 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
4 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
5 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh37 Chromosome 11, 31812304: 31812304
6 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh38 Chromosome 11, 31790756: 31790756
7 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh37 Chromosome 11, 31806855: 31806855
8 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh38 Chromosome 11, 31785307: 31785307
9 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh37 Chromosome 11, 31807406: 31807406
10 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh38 Chromosome 11, 31785858: 31785858
11 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh37 Chromosome 11, 31807479: 31807479
12 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh38 Chromosome 11, 31785931: 31785931
13 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh37 Chromosome 11, 31808164: 31808164
14 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh38 Chromosome 11, 31786616: 31786616
15 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh37 Chromosome 11, 31808581: 31808581
16 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh38 Chromosome 11, 31787033: 31787033
17 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh37 Chromosome 11, 31808775: 31808777
18 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh38 Chromosome 11, 31787227: 31787229
19 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh37 Chromosome 11, 31809961: 31809961
20 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh38 Chromosome 11, 31788413: 31788413
21 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh37 Chromosome 11, 31810088: 31810088
22 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh38 Chromosome 11, 31788540: 31788540
23 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh37 Chromosome 11, 31810195: 31810195
24 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh38 Chromosome 11, 31788647: 31788647
25 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh37 Chromosome 11, 31810298: 31810298
26 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh38 Chromosome 11, 31788750: 31788750
27 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh37 Chromosome 11, 31810419: 31810419
28 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh38 Chromosome 11, 31788871: 31788871
29 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh37 Chromosome 11, 31823139: 31823139
30 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh38 Chromosome 11, 31801591: 31801591
31 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh37 Chromosome 11, 31823332: 31823332
32 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh38 Chromosome 11, 31801784: 31801784
33 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh37 Chromosome 11, 31832571: 31832571
34 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh38 Chromosome 11, 31811023: 31811023
35 PAX6 NM_000280.4(PAX6): c.*5108A> G single nucleotide variant Likely benign rs146579778 GRCh37 Chromosome 11, 31806374: 31806374
36 PAX6 NM_000280.4(PAX6): c.*5108A> G single nucleotide variant Likely benign rs146579778 GRCh38 Chromosome 11, 31784826: 31784826
37 PAX6 NM_000280.4(PAX6) indel Uncertain significance rs886048180 GRCh37 Chromosome 11, 31806561: 31806563
38 PAX6 NM_000280.4(PAX6) indel Uncertain significance rs886048180 GRCh38 Chromosome 11, 31785013: 31785015
39 PAX6 NM_000280.4(PAX6): c.*4696G> C single nucleotide variant Likely benign rs180780893 GRCh37 Chromosome 11, 31806786: 31806786
40 PAX6 NM_000280.4(PAX6): c.*4696G> C single nucleotide variant Likely benign rs180780893 GRCh38 Chromosome 11, 31785238: 31785238
41 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh37 Chromosome 11, 31806883: 31806883
42 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh38 Chromosome 11, 31785335: 31785335
43 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh37 Chromosome 11, 31807121: 31807121
44 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh38 Chromosome 11, 31785573: 31785573
45 PAX6 NM_000280.4(PAX6): c.*3958G> A single nucleotide variant Benign rs3026401 GRCh37 Chromosome 11, 31807524: 31807524
46 PAX6 NM_000280.4(PAX6): c.*3958G> A single nucleotide variant Benign rs3026401 GRCh38 Chromosome 11, 31785976: 31785976
47 PAX6 NM_000280.4(PAX6): c.*3908C> T single nucleotide variant Uncertain significance rs886048185 GRCh37 Chromosome 11, 31807574: 31807574
48 PAX6 NM_000280.4(PAX6): c.*3908C> T single nucleotide variant Uncertain significance rs886048185 GRCh38 Chromosome 11, 31786026: 31786026
49 PAX6 NM_000280.4(PAX6): c.*3736_*3737delCA deletion Benign rs141022497 GRCh37 Chromosome 11, 31807745: 31807746
50 PAX6 NM_000280.4(PAX6): c.*3736_*3737delCA deletion Benign rs141022497 GRCh38 Chromosome 11, 31786197: 31786198

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

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.67 OTX2 PAX6 SOX2
2 transcription by RNA polymerase II GO:0006366 9.65 OTX2 PAX6 SOX2
3 regulation of transcription, DNA-templated GO:0006355 9.65 HESX1 OTX2 PAX6 SOX2 VSX2
4 response to wounding GO:0009611 9.46 PAX6 SOX2
5 cell fate commitment GO:0045165 9.43 PAX6 SOX2
6 negative regulation of epithelial cell proliferation GO:0050680 9.4 PAX6 SOX2
7 negative regulation of neuron differentiation GO:0045665 9.37 PAX6 SOX2
8 multicellular organism development GO:0007275 9.35 HESX1 OTX2 PAX6 SOX2 VSX2
9 forebrain development GO:0030900 9.33 OTX2 PAX6 SOX2
10 eye development GO:0001654 9.32 PAX6 SOX2
11 pituitary gland development GO:0021983 8.8 HESX1 PAX6 SOX2

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 HESX1 OTX2 PAX6 SOX2 VSX2
2 DNA-binding transcription factor activity GO:0003700 9.54 OTX2 PAX6 SOX2
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 HESX1 OTX2 PAX6
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.43 OTX2 PAX6 SOX2
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 HESX1 OTX2 PAX6 SOX2 VSX2
6 sequence-specific DNA binding GO:0043565 9.02 HESX1 OTX2 PAX6 SOX2 VSX2

Sources for Fryns Microphthalmia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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