MCID: MCR070
MIFTS: 15

Microcornea, Glaucoma, and Absent Frontal Sinuses

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Microcornea, Glaucoma, and Absent Frontal Sinuses

MalaCards integrated aliases for Microcornea, Glaucoma, and Absent Frontal Sinuses:

Name: Microcornea, Glaucoma, and Absent Frontal Sinuses 53 49
Hereditary Microcornea, Glaucoma, and Absent Frontal Sinuses 49
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
microcornea-glaucoma-absent frontal sinuses syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
microcornea, glaucoma, and absent frontal sinuses:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 156700
Orphanet 55 ORPHA2536
MESH via Orphanet 42 C537552
UMLS via Orphanet 70 C1834935
ICD10 via Orphanet 33 Q15.8
MedGen 39 C1834935

Summaries for Microcornea, Glaucoma, and Absent Frontal Sinuses

MalaCards based summary : Microcornea, Glaucoma, and Absent Frontal Sinuses, is also known as hereditary microcornea, glaucoma, and absent frontal sinuses, and has symptoms including visual impairment, palmoplantar keratoderma and epicanthus. Affiliated tissues include eye.

Description from OMIM: 156700

Related Diseases for Microcornea, Glaucoma, and Absent Frontal Sinuses

Symptoms & Phenotypes for Microcornea, Glaucoma, and Absent Frontal Sinuses

Symptoms via clinical synopsis from OMIM:

53
Eyes:
glaucoma
microcornea

Skull:
absent frontal sinuses


Clinical features from OMIM:

156700

Human phenotypes related to Microcornea, Glaucoma, and Absent Frontal Sinuses:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
2 palmoplantar keratoderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
4 flat face 55 31 frequent (33%) Frequent (79-30%) HP:0012368
5 glaucoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000501
6 round face 55 31 frequent (33%) Frequent (79-30%) HP:0000311
7 microcornea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000482
8 torus palatinus 55 31 hallmark (90%) Very frequent (99-80%) HP:0100789
9 absent frontal sinuses 55 31 hallmark (90%) Very frequent (99-80%) HP:0002688
10 abnormality of the skull 55 Very frequent (99-80%)

Drugs & Therapeutics for Microcornea, Glaucoma, and Absent Frontal Sinuses

Search Clinical Trials , NIH Clinical Center for Microcornea, Glaucoma, and Absent Frontal Sinuses

Genetic Tests for Microcornea, Glaucoma, and Absent Frontal Sinuses

Anatomical Context for Microcornea, Glaucoma, and Absent Frontal Sinuses

MalaCards organs/tissues related to Microcornea, Glaucoma, and Absent Frontal Sinuses:

38
Eye

Publications for Microcornea, Glaucoma, and Absent Frontal Sinuses

Variations for Microcornea, Glaucoma, and Absent Frontal Sinuses

Expression for Microcornea, Glaucoma, and Absent Frontal Sinuses

Search GEO for disease gene expression data for Microcornea, Glaucoma, and Absent Frontal Sinuses.

Pathways for Microcornea, Glaucoma, and Absent Frontal Sinuses

GO Terms for Microcornea, Glaucoma, and Absent Frontal Sinuses

Sources for Microcornea, Glaucoma, and Absent Frontal Sinuses

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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