MCID: MCR090
MIFTS: 9

Microspherophakia with Hernia

Categories: Rare diseases

Aliases & Classifications for Microspherophakia with Hernia

MalaCards integrated aliases for Microspherophakia with Hernia:

Name: Microspherophakia with Hernia 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
microspherophakia with hernia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 157150
MedGen 41 C1834881

Summaries for Microspherophakia with Hernia

MalaCards based summary : Microspherophakia with Hernia Related phenotypes are inguinal hernia and myopia

More information from OMIM: 157150

Related Diseases for Microspherophakia with Hernia

Symptoms & Phenotypes for Microspherophakia with Hernia

Human phenotypes related to Microspherophakia with Hernia:

31
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 myopia 31 HP:0000545
3 retinal detachment 31 HP:0000541
4 superior lens subluxation 31 HP:0008019
5 microspherophakia 31 HP:0030961

Symptoms via clinical synopsis from OMIM:

56
Abdomen:
inguinal hernia

Eyes:
myopia
retinal detachment
microspherophakia
upward lens dislocation

Clinical features from OMIM:

157150

Drugs & Therapeutics for Microspherophakia with Hernia

Search Clinical Trials , NIH Clinical Center for Microspherophakia with Hernia

Genetic Tests for Microspherophakia with Hernia

Anatomical Context for Microspherophakia with Hernia

Publications for Microspherophakia with Hernia

Articles related to Microspherophakia with Hernia:

# Title Authors PMID Year
1
Dominant microspherophakia. 56
5087595 1971
2
A homozygous mutation in LTBP2 causes isolated microspherophakia. 61
20617341 2010

Variations for Microspherophakia with Hernia

Expression for Microspherophakia with Hernia

Search GEO for disease gene expression data for Microspherophakia with Hernia.

Pathways for Microspherophakia with Hernia

GO Terms for Microspherophakia with Hernia

Sources for Microspherophakia with Hernia

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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