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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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

Symptoms via clinical synopsis from OMIM:

57
Eye:
blindness
eyelids swollen
leukoma

Mouth:
primary amyloidosis of gingiva

Neuro:
mental retardation


Clinical features from OMIM:

204850

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

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 blindness 32 HP:0000618
3 opacification of the corneal stroma 32 HP:0007759
4 abnormality of the mouth 32 HP:0000153
5 amyloidosis 32 HP:0011034

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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