MCID: FRY006
MIFTS: 44

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 53 49 55
Microphthalmia with Facial Clefting 53 49 55
Anophthalmia Plus Syndrome 49 55 69
Anophthalmia 72 28 51
Leichtman Wood Rohn Syndrome 49 69
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 49
Fryns Anophthalmia Syndrome 49
Anophthalmia-Plus Syndrome 53

Characteristics:

Orphanet epidemiological data:

55
anophthalmia plus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
fryns microphthalmia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 600776
Orphanet 55 ORPHA1104
MESH via Orphanet 42 C537767
UMLS via Orphanet 70 C1833339
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1833339

Summaries for Fryns Microphthalmia Syndrome

NIH Rare Diseases : 49 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. Last updated: 11/17/2011

MalaCards based summary : Fryns Microphthalmia Syndrome, also known as microphthalmia with facial clefting, is related to microphthalmia and microphthalmia, isolated 1, and has symptoms including hypertelorism, abnormal nasal morphology and low-set, posteriorly rotated ears. An important gene associated with Fryns Microphthalmia Syndrome is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye and uterus, and related phenotypes are endocrine/exocrine gland and mortality/aging

Wikipedia : 72 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 all 48)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 31.7 OTX2 PAX6 SOX2 VSX2
2 microphthalmia, isolated 1 31.0 SOX2 VSX2
3 coloboma of macula 29.1 OTX2 PAX6 SOX2 VSX2
4 microphthalmia, syndromic 3 12.0
5 microphthalmia, syndromic 9 12.0
6 anophthalmia megalocornea cardiopathy skeletal anomalies 11.9
7 microphthalmia/anophthalmia/coloboma spectrum 11.8
8 anophthalmia cleft lip palate hypothalamic disorder 11.8
9 anophthalmia cleft palate micrognathia 11.8
10 anophthalmia esophageal atresia cryptorchidism 11.8
11 anophthalmia microcephaly hypogonadism 11.8
12 microphthalmia with limb anomalies 11.8
13 anophthalmos with limb anomalies 11.7
14 microphthalmia, syndromic 6 11.6
15 oculocerebrocutaneous syndrome 11.5
16 microphthalmia, syndromic 5 11.5
17 microphthalmia, isolated 3 11.4
18 focal dermal hypoplasia 11.3
19 microphthalmia, syndromic 1 11.1
20 samson viljoen syndrome 11.1
21 microphthalmia, isolated 2 11.0
22 manitoba oculotrichoanal syndrome 10.9
23 microphthalmia, syndromic 2 10.9
24 microphthalmia, syndromic 13 10.9
25 linear skin defects with multiple congenital anomalies 1 10.9
26 microphthalmia, syndromic 8 10.9
27 microphthalmia, syndromic 11 10.9
28 microphthalmia, syndromic 12 10.9
29 microphthalmia, isolated 4 10.8
30 arroyo garcia cimadevilla syndrome 10.8
31 colobomatous microphthalmia 10.8
32 coloboma, ocular, autosomal dominant 10.8
33 coloboma, ocular, autosomal recessive 10.8
34 microphthalmia, isolated, with coloboma 1 10.8
35 cerebrooculonasal syndrome 10.8
36 microphthalmia/coloboma and skeletal dysplasia syndrome 10.8
37 arhinia choanal atresia microphthalmia 10.8
38 esophagitis 10.1
39 hypothyroidism 9.9
40 cleft lip 9.9
41 cleft lip/palate 9.9
42 combined pituitary hormone deficiencies, genetic forms 9.7 HESX1 OTX2
43 pituitary hypoplasia 9.7 HESX1 OTX2
44 combined pituitary hormone deficiency 9.7 HESX1 OTX2
45 axenfeld-rieger syndrome, type 1 9.6 HESX1 PAX6
46 ablepharon-macrostomia syndrome 9.5 PAX6 SOX2
47 congenital aphakia 9.5 OTX2 PAX6 SOX2
48 schizencephaly 9.4 HESX1 SOX2

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:

53
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:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
2 abnormal nasal morphology 55 31 frequent (33%) Frequent (79-30%) HP:0005105
3 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
4 choanal atresia 55 31 frequent (33%) Frequent (79-30%) HP:0000453
5 spina bifida 55 31 occasional (7.5%) Occasional (29-5%) HP:0002414
6 blepharophimosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000581
7 vertebral segmentation defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0003422
8 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
9 anophthalmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000528
10 facial cleft 55 31 frequent (33%) Frequent (79-30%) HP:0002006
11 deviation of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004097
12 aplasia/hypoplasia of the earlobes 55 31 occasional (7.5%) Occasional (29-5%) HP:0009906
13 bilateral cleft lip and palate 55 31 frequent (33%) Frequent (79-30%) HP:0002744
14 macrotia 31 HP:0000400
15 cleft palate 55 Frequent (79-30%)
16 non-midline cleft lip 55 Frequent (79-30%)
17 microphthalmia 31 HP:0000568
18 cleft eyelid 55 Occasional (29-5%)
19 abnormality of the vertebral column 31 HP:0000925
20 abnormality of the genitourinary system 31 HP:0000119
21 eyelid coloboma 31 occasional (7.5%) HP:0000625

MGI Mouse Phenotypes related to Fryns Microphthalmia Syndrome:

43 (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 SOX2 VSX2 HESX1 OTX2 PAX6
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 28

Anatomical Context for Fryns Microphthalmia Syndrome

MalaCards organs/tissues related to Fryns Microphthalmia Syndrome:

38
Eye, Uterus

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

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 epithelial cell proliferation GO:0050680 9.4 PAX6 SOX2
9 negative regulation of neuron differentiation GO:0045665 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 9.56 HESX1 OTX2 PAX6 SOX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.33 HESX1 OTX2 PAX6
3 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.13 OTX2 PAX6 SOX2
4 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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