MCID: MCR070
MIFTS: 14

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 54 50
Hereditary Microcornea, Glaucoma, and Absent Frontal Sinuses 50
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
microcornea-glaucoma-absent frontal sinuses syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
microcornea, glaucoma, and absent frontal sinuses:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 156700
Orphanet 56 ORPHA2536
MESH via Orphanet 43 C537552
UMLS via Orphanet 70 C1834935
ICD10 via Orphanet 34 Q15.8

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 round face. 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:

54

Eyes:
glaucoma
microcornea

Skull:
absent frontal sinuses


Clinical features from OMIM:

156700

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

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
2 palmoplantar keratoderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 round face 56 32 frequent (33%) Frequent (79-30%) HP:0000311
4 glaucoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000501
5 microcornea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000482
6 absent frontal sinuses 56 32 hallmark (90%) Very frequent (99-80%) HP:0002688
7 flat face 56 32 frequent (33%) Frequent (79-30%) HP:0012368
8 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
9 torus palatinus 56 32 hallmark (90%) Very frequent (99-80%) HP:0100789
10 abnormality of the skull 56 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:

39
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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