Aliases & Classifications for Cryptophthalmos

MalaCards integrated aliases for Cryptophthalmos:

Name: Cryptophthalmos 52 54 6

Classifications:



Summaries for Cryptophthalmos

MalaCards based summary : Cryptophthalmos is related to fraser syndrome 1 and coloboma of macula. An important gene associated with Cryptophthalmos is FREM2 (FRAS1 Related Extracellular Matrix 2), and among its related pathways/superpathways is ECM-receptor interaction. Affiliated tissues include skin, eye and lung, and related phenotypes are integument and limbs/digits/tail

Wikipedia : 74 Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with... more...

Related Diseases for Cryptophthalmos

Diseases related to Cryptophthalmos via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 fraser syndrome 1 32.1 GRIP1 FREM2 FREM1 FRAS1
2 coloboma of macula 29.7 FREM2 FREM1 FRAS1
3 anus, imperforate 29.5 FREM2 FRAS1
4 oligohydramnios 29.5 FREM2 FRAS1
5 chromosome 2q35 duplication syndrome 29.3 GRIP1 FREM2 FREM1 FRAS1
6 renal hypodysplasia/aplasia 1 29.0 GRIP1 FREM2 FREM1 FRAS1
7 cryptophthalmos, unilateral or bilateral, isolated 12.8
8 manitoba oculotrichoanal syndrome 11.9
9 fraser syndrome 2 11.7
10 microphthalmia 11.5
11 fraser syndrome 3 11.3
12 congenital symblepharon 10.4
13 frem1 autosomal recessive disorders 10.2
14 cryptophthalmia 10.2
15 fryns microphthalmia syndrome 10.1
16 autosomal recessive disease 10.1
17 orbital cyst 10.1
18 keratopathy 10.1
19 cleft lip 10.1
20 meningoencephalocele 10.1
21 cleft lip/palate 10.1
22 ankyloglossia with or without tooth anomalies 10.0
23 coarctation of aorta 10.0
24 hypertelorism 10.0
25 pectus excavatum 10.0
26 ablepharon-macrostomia syndrome 10.0
27 peters-plus syndrome 10.0
28 schizencephaly 10.0
29 colonic atresia 10.0
30 gonadoblastoma 10.0
31 polydactyly 10.0
32 tricuspid atresia 10.0
33 choanal atresia, posterior 10.0
34 cyanosis, transient neonatal 10.0
35 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
36 oculocutaneous albinism 10.0
37 umbilical hernia 10.0
38 hypogonadotropic hypogonadism 10.0
39 potter's syndrome 10.0
40 gonadal dysgenesis 10.0
41 ectropion 10.0
42 hypogonadism 10.0
43 hypogonadotropism 10.0
44 albinism 10.0
45 congenital cystic eye 10.0
46 growth hormone deficiency 10.0
47 bicornuate uterus 10.0
48 orofacial clefting syndrome 10.0
49 congenital subglottic stenosis 10.0
50 renal agenesis, bilateral 10.0

Graphical network of the top 20 diseases related to Cryptophthalmos:



Diseases related to Cryptophthalmos

Symptoms & Phenotypes for Cryptophthalmos

MGI Mouse Phenotypes related to Cryptophthalmos:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.62 FRAS1 FREM1 FREM2 GRIP1
2 limbs/digits/tail MP:0005371 9.56 FRAS1 FREM1 FREM2 GRIP1
3 craniofacial MP:0005382 9.54 FRAS1 FREM1 FREM2
4 renal/urinary system MP:0005367 9.46 FRAS1 FREM1 FREM2 GRIP1
5 respiratory system MP:0005388 9.13 FRAS1 FREM1 FREM2
6 vision/eye MP:0005391 8.92 FRAS1 FREM1 FREM2 GRIP1

Drugs & Therapeutics for Cryptophthalmos

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877

Search NIH Clinical Center for Cryptophthalmos

Genetic Tests for Cryptophthalmos

Anatomical Context for Cryptophthalmos

MalaCards organs/tissues related to Cryptophthalmos:

40
Skin, Eye, Lung, Smooth Muscle, Colon, Kidney, Fetal Lung

Publications for Cryptophthalmos

Articles related to Cryptophthalmos:

(show top 50) (show all 193)
# Title Authors PMID Year
1
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 54 61
14730302 2004
2
The monster of Ascheraden: A description of syndromic cryptophthalmos by poet Daniel Hermann in "De monstroso partu…" published in Riga, 1596. 61
31833234 2019
3
Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report. 61
31438902 2019
4
Reconstruction strategy in isolated complete Cryptophthalmos: a case series. 61
31366340 2019
5
Loss-of-function mutations in FREM2 disrupt eye morphogenesis. 61
30802441 2019
6
[Unilateral cryptophthalmos (a clinical and morphological study)]. 61
31215540 2019
7
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. 61
29688405 2018
8
Oral manifestations and rehabilitation in Fraser syndrome: A case report. 61
29873822 2018
9
Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review. 61
30364810 2018
10
Ultrasonographic assessment of paediatric ocular emergencies: A tertiary eye hospital based observation. 61
30181795 2018
11
Eyelid and fornix reconstruction in abortive cryptophthalmos: a single-center experience over 12 years. 61
28622309 2017
12
Oral healthcare in Fraser syndrome. 61
29120500 2017
13
Genetic background-dependent role of Egr1 for eyelid development. 61
28778995 2017
14
Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome. 61
25811163 2017
15
Isolated Bilateral Complete Cryptophthalmos. 61
28478476 2016
16
Fraser Syndrome - a Case Report and Review of Literature. 61
28465758 2016
17
Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature. 61
26384833 2015
18
Prenatal diagnosis of Fraser syndrome: a matter of life or death? 61
26552811 2015
19
Fraser Syndrome. 61
26522198 2015
20
[Bilateral cryptophthalmos in Fraser syndrome: Case report and review of the literature]. 61
25890591 2015
21
Visual impairment and blindness among the students of blind schools in Allahabad and its vicinity: A causal assessment. 61
25971172 2015
22
[About Cryptophthalmos (2nd Czech Study)]. 61
26782916 2015
23
Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics. 61
25230075 2014
24
Novel surgical technique for the management of partial cryptophthalmos. 61
25494255 2014
25
Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging. 61
25071894 2014
26
Re: "Cryptophthalmos: reconstructive techniques--expanded classification of congenital symblepharon variant". 61
24217489 2013
27
Reply re: "Cryptophthalmos: reconstructive techniques--expanded classification of congenital symblepharon variant". 61
24217490 2013
28
Cryptophthalmos: reconstructive techniques--expanded classification of congenital symblepharon variant. 61
23619465 2013
29
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. 61
23473829 2013
30
Fraser syndrome: epidemiological study in a European population. 61
23532946 2013
31
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. 61
23536828 2013
32
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. 61
24551978 2013
33
MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features. 61
23112756 2012
34
Mutations in GRIP1 cause Fraser syndrome. 61
22510445 2012
35
Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins. 61
22613833 2012
36
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome. 61
22690109 2012
37
Case report: hypodontia and short roots in a child with Fraser syndrome. 61
21806907 2011
38
Two-stage reconstruction for eyelid deformities in partial cryptophthalmos. 61
21747265 2011
39
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 61
21507892 2011
40
Fraser syndrome in three consecutive siblings. 61
21897626 2011
41
The role of Fras1/Frem proteins in the structure and function of basement membrane. 61
21182980 2011
42
Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. 61
20419147 2010
43
Cryptophthalmos associated with orbito-palpebral cysts: a case report. 61
20130725 2010
44
A surgical strategy for the correction of Fraser syndrome cryptophthalmos. 61
19643480 2009
45
Congenital and developmental eyelid abnormalities. 61
19568143 2009
46
Repair of isolated abortive cryptophthalmos with lower eyelid switch flap and amniotic membrane graft. 61
19300173 2009
47
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. 61
19291776 2009
48
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. 61
18787044 2008
49
Molecular study of 33 families with Fraser syndrome new data and mutation review. 61
18671281 2008
50
FREM1 Autosomal Recessive Disorders 61
20301721 2008

Variations for Cryptophthalmos

ClinVar genetic disease variations for Cryptophthalmos:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FREM2 NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)SNV Pathogenic 523570 rs767978562 13:39425230-39425230 13:38851093-38851093

Expression for Cryptophthalmos

Search GEO for disease gene expression data for Cryptophthalmos.

Pathways for Cryptophthalmos

Pathways related to Cryptophthalmos according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.99 FREM2 FREM1 FRAS1

GO Terms for Cryptophthalmos

Cellular components related to Cryptophthalmos according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 FREM2 FREM1 FRAS1

Biological processes related to Cryptophthalmos according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 morphogenesis of an epithelium GO:0002009 8.96 FREM2 FRAS1
2 cell communication GO:0007154 8.8 FREM2 FREM1 FRAS1

Sources for Cryptophthalmos

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
Content
Loading form....