MCID: FRY006
MIFTS: 45

Fryns Microphthalmia Syndrome

Categories: Rare diseases, Fetal 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, uterus and adrenal gland, and related phenotypes are hypertelorism and abnormal nasal morphology

Wikipedia : 76 Anophthalmia, (Greek: ανόφθαλμος, \"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 96)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 31.0 OTX2 PAX6 SOX2 VSX2
2 microphthalmia, isolated 1 30.8 SOX2 VSX2
3 pituitary hypoplasia 29.4 HESX1 OTX2
4 combined pituitary hormone deficiency 29.0 HESX1 OTX2
5 microphthalmia, syndromic 9 12.1
6 microphthalmia, syndromic 3 12.0
7 anophthalmia megalocornea cardiopathy skeletal anomalies 11.9
8 microphthalmia/anophthalmia/coloboma spectrum 11.9
9 anophthalmia cleft palate micrognathia 11.9
10 anophthalmia esophageal atresia cryptorchidism 11.9
11 microphthalmia with limb anomalies 11.8
12 anophthalmos with limb anomalies 11.7
13 microphthalmia, syndromic 6 11.7
14 microphthalmia, syndromic 5 11.6
15 microphthalmia, isolated 3 11.4
16 focal dermal hypoplasia 11.3
17 samson viljoen syndrome 11.1
18 microphthalmia, syndromic 1 11.1
19 microphthalmia, isolated 2 11.0
20 manitoba oculotrichoanal syndrome 10.9
21 microphthalmia, syndromic 2 10.9
22 microphthalmia, syndromic 13 10.9
23 linear skin defects with multiple congenital anomalies 1 10.9
24 microphthalmia, syndromic 8 10.9
25 microphthalmia, syndromic 11 10.9
26 microphthalmia, syndromic 12 10.9
27 microphthalmia, isolated 4 10.8
28 arroyo garcia cimadevilla syndrome 10.8
29 colobomatous microphthalmia 10.8
30 coloboma, ocular, autosomal dominant 10.8
31 coloboma, ocular, autosomal recessive 10.8
32 microphthalmia, isolated, with coloboma 1 10.8
33 cerebrooculonasal syndrome 10.8
34 microphthalmia/coloboma and skeletal dysplasia syndrome 10.8
35 arhinia choanal atresia microphthalmia 10.8
36 cleft lip 10.1
37 cleft lip/palate 10.1
38 esophagitis 10.1
39 tracheoesophageal fistula with or without esophageal atresia 10.1
40 esophageal atresia 10.1
41 polydactyly 10.0
42 woods syndrome 10.0
43 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 10.0
44 hypogonadotropic hypogonadism 9.9
45 hypogonadism 9.9
46 hypogonadotropism 9.9
47 growth hormone deficiency 9.9
48 septooptic dysplasia 9.8
49 hydrocephalus 9.8
50 diaphragmatic eventration 9.8

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

GU:
uterus unicornis


Clinical features from OMIM:

600776

Human phenotypes related to Fryns Microphthalmia Syndrome:

59 32 (show all 22)
# 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

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 VSX2 HESX1 OTX2 PAX6 SOX2
2 mortality/aging MP:0010768 9.83 SOX2 VSX2 HESX1 OTX2 PAX6
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, Uterus, Adrenal Gland

Publications for Fryns Microphthalmia Syndrome

Articles related to Fryns Microphthalmia Syndrome:

# Title Authors Year
1
Fryns anophthalmia-plus syndrome: two rare cases. ( 25804017 )
2014
2
Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature. ( 24341146 )
2013
3
Fryns anophthalmia-plus syndrome in an 18-week-old fetus. ( 21675878 )
2012
4
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. ( 18564500 )
2008
5
Anophthalmia-plus syndrome: a clinical report and review of the literature. ( 17152069 )
2007

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 GRCh38 Chromosome 11, 31785931: 31785931
12 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh37 Chromosome 11, 31807479: 31807479
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 12)
# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.81 HESX1 PAX6 SOX2 VSX2
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.67 HESX1 PAX6 SOX2
3 transcription by RNA polymerase II GO:0006366 9.65 OTX2 PAX6 SOX2
4 regulation of transcription, DNA-templated GO:0006355 9.65 HESX1 OTX2 PAX6 SOX2 VSX2
5 positive regulation of transcription, DNA-templated GO:0045893 9.63 OTX2 PAX6 SOX2
6 multicellular organism development GO:0007275 9.55 HESX1 OTX2 PAX6 SOX2 VSX2
7 response to wounding GO:0009611 9.43 PAX6 SOX2
8 negative regulation of neuron differentiation GO:0045665 9.4 PAX6 SOX2
9 negative regulation of epithelial cell proliferation GO:0050680 9.37 PAX6 SOX2
10 eye development GO:0001654 9.32 PAX6 SOX2
11 forebrain development GO:0030900 9.13 OTX2 PAX6 SOX2
12 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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 HESX1 OTX2 PAX6
3 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.43 OTX2 PAX6 SOX2
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.35 HESX1 OTX2 PAX6 SOX2 VSX2
5 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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