CRYPTOP
MCID: CRY030
MIFTS: 26

Cryptophthalmos, Unilateral or Bilateral, Isolated (CRYPTOP)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cryptophthalmos, Unilateral or Bilateral, Isolated

MalaCards integrated aliases for Cryptophthalmos, Unilateral or Bilateral, Isolated:

Name: Cryptophthalmos, Unilateral or Bilateral, Isolated 56 73 6
Cryptophthalmos with Microphthalmia and Peters Anomaly 56 73
Ankyloblepharon, Simple 56 73
Cryptop 56 73
Isolated Cryptophthalmia 58
Complete Cryptophthalmia 58

Characteristics:

Orphanet epidemiological data:

58
isolated cryptophthalmia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;
complete cryptophthalmia
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
cryptophthalmos may be unilateral or bilateral
normal brain morphology


HPO:

31
cryptophthalmos, unilateral or bilateral, isolated:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 123570
ICD10 via Orphanet 33 Q11.2
UMLS via Orphanet 72 C0311249 C1852453
MedGen 41 C1852453

Summaries for Cryptophthalmos, Unilateral or Bilateral, Isolated

UniProtKB/Swiss-Prot : 73 Cryptophthalmos, unilateral or bilateral, isolated: An autosomal dominant, rare condition characterized by congenital eyelid malformation with an underlying malformed eye. It can be bilateral or unilateral and is classified into complete (typical), incomplete (atypical) and abortive (congenital symblepharon) forms. The skin of patients with complete cryptophthalmos extends uninterrupted from the forehead to the cheek, whereas incomplete cryptophthalmos exists when there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form.

MalaCards based summary : Cryptophthalmos, Unilateral or Bilateral, Isolated, also known as cryptophthalmos with microphthalmia and peters anomaly, is related to anophthalmos with limb anomalies and cryptococcal meningitis. An important gene associated with Cryptophthalmos, Unilateral or Bilateral, Isolated is FREM2 (FRAS1 Related Extracellular Matrix 2). Affiliated tissues include eye, skin and brain, and related phenotypes are microphthalmia and glaucoma

OMIM : 56 Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form (summary by Egier et al., 2005). (123570)

Related Diseases for Cryptophthalmos, Unilateral or Bilateral, Isolated

Diseases related to Cryptophthalmos, Unilateral or Bilateral, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 anophthalmos with limb anomalies 11.4
2 cryptococcal meningitis 10.3
3 cryptococcosis 10.3

Symptoms & Phenotypes for Cryptophthalmos, Unilateral or Bilateral, Isolated

Human phenotypes related to Cryptophthalmos, Unilateral or Bilateral, Isolated:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 HP:0000568
2 glaucoma 31 HP:0000501
3 ankyloblepharon 31 HP:0009755
4 cryptophthalmos 31 HP:0001126

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
continuous intact skin covering upper half of face

Head And Neck Eyes:
no eyebrows
no eyelashes
no eyelids
no anatomic eyelid structure seen at surgery
gourd-shaped cyst in ocular cavity
more

Clinical features from OMIM:

123570

Drugs & Therapeutics for Cryptophthalmos, Unilateral or Bilateral, Isolated

Search Clinical Trials , NIH Clinical Center for Cryptophthalmos, Unilateral or Bilateral, Isolated

Genetic Tests for Cryptophthalmos, Unilateral or Bilateral, Isolated

Anatomical Context for Cryptophthalmos, Unilateral or Bilateral, Isolated

MalaCards organs/tissues related to Cryptophthalmos, Unilateral or Bilateral, Isolated:

40
Eye, Skin, Brain

Publications for Cryptophthalmos, Unilateral or Bilateral, Isolated

Articles related to Cryptophthalmos, Unilateral or Bilateral, Isolated:

(showing 6, show less)
# Title Authors PMID Year
1
Loss-of-function mutations in FREM2 disrupt eye morphogenesis. 56 6
30802441 2019
2
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. 56 6
29688405 2018
3
Bilateral complete isolated cryptophthalmos: a case report. 56
16352480 2005
4
Syndromic and isolated cryptophthalmos. 56
8984052 1995
5
Dominant syndrome with isolated cryptophthalmos and ocular anomalies. 56
1642262 1992
6
Isolated and syndromic cryptophthalmos. 56
3099574 1986

Variations for Cryptophthalmos, Unilateral or Bilateral, Isolated

ClinVar genetic disease variations for Cryptophthalmos, Unilateral or Bilateral, Isolated:

6 (showing 4, show less) ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FREM2 NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter)SNV Pathogenic 625182 rs939534674 13:39263687-39263687 13:38689550-38689550
2 FREM2 NM_207361.6(FREM2):c.5309G>A (p.Trp1770Ter)SNV Pathogenic 625183 rs1566133616 13:39338486-39338486 13:38764349-38764349
3 FREM2 NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter)SNV Pathogenic 625184 rs765324128 13:39265544-39265544 13:38691407-38691407
4 FREM2 NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp)SNV Uncertain significance 284704 rs114837786 13:39424294-39424294 13:38850157-38850157

UniProtKB/Swiss-Prot genetic disease variations for Cryptophthalmos, Unilateral or Bilateral, Isolated:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 FREM2 p.Arg2167Trp VAR_082584 rs114837786

Expression for Cryptophthalmos, Unilateral or Bilateral, Isolated

Search GEO for disease gene expression data for Cryptophthalmos, Unilateral or Bilateral, Isolated.

Pathways for Cryptophthalmos, Unilateral or Bilateral, Isolated

GO Terms for Cryptophthalmos, Unilateral or Bilateral, Isolated

Sources for Cryptophthalmos, Unilateral or Bilateral, Isolated

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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