MCID: AMY015
MIFTS: 11

Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

MalaCards integrated aliases for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation:

Name: Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amyloidosis of gingiva and conjunctiva, with mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

MalaCards based summary : Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation is related to amyloidosis of gingiva and conjunctiva with intellectual disability. Related phenotypes are intellectual disability and blindness

Description from OMIM: 204850

Related Diseases for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Diseases related to Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amyloidosis of gingiva and conjunctiva with intellectual disability 11.6

Symptoms & Phenotypes for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Human phenotypes related to Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 blindness 33 HP:0000618
3 opacification of the corneal stroma 33 HP:0007759
4 abnormality of the mouth 33 HP:0000153
5 amyloidosis 33 HP:0011034

Symptoms via clinical synopsis from OMIM:

58
Eye:
blindness
eyelids swollen
leukoma

Mouth:
primary amyloidosis of gingiva

Neuro:
mental retardation

Clinical features from OMIM:

204850

Drugs & Therapeutics for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Search Clinical Trials , NIH Clinical Center for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Genetic Tests for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Anatomical Context for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Publications for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Variations for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Expression for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Search GEO for disease gene expression data for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation.

Pathways for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

GO Terms for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Sources for Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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