MCID: AMY015
MIFTS: 11

Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation

Categories: Mental diseases, Neuronal diseases, Rare 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 56
Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 52
Amyloidosis of Gingiva and Conjunctiva with Mental Retardation 52
Hornova Dlushosova Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
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 also known as amyloidosis of gingiva and conjunctiva with intellectual disability. Related phenotypes are intellectual disability and blindness

More information from OMIM: 204850

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

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

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

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 blindness 31 HP:0000618
3 opacification of the corneal stroma 31 HP:0007759
4 abnormality of the mouth 31 HP:0000153
5 amyloidosis 31 HP:0011034

Symptoms via clinical synopsis from OMIM:

56
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

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

# Title Authors PMID Year
1
Primary amyloidosis of gingiva and conjunctiva and mental disorder in a brother and sister. 56
5237479 1968

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
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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