MCID: AMY101
MIFTS: 8

Amyloidosis, Cutaneous Bullous

Aliases & Classifications for Amyloidosis, Cutaneous Bullous

MalaCards integrated aliases for Amyloidosis, Cutaneous Bullous:

Name: Amyloidosis, Cutaneous Bullous 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amyloidosis, cutaneous bullous:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 204900
MedGen 43 C0268399

Summaries for Amyloidosis, Cutaneous Bullous

MalaCards based summary : Amyloidosis, Cutaneous Bullous Affiliated tissues include skin, and related phenotypes are abnormality of the skin and amyloidosis

Description from OMIM: 204900

Related Diseases for Amyloidosis, Cutaneous Bullous

Symptoms & Phenotypes for Amyloidosis, Cutaneous Bullous

Human phenotypes related to Amyloidosis, Cutaneous Bullous:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 33 HP:0000951
2 amyloidosis 33 HP:0011034

Symptoms via clinical synopsis from OMIM:

58
Skin:
bullous lesions around joints

Misc:
onset age 10 to 13

Clinical features from OMIM:

204900

Drugs & Therapeutics for Amyloidosis, Cutaneous Bullous

Search Clinical Trials , NIH Clinical Center for Amyloidosis, Cutaneous Bullous

Genetic Tests for Amyloidosis, Cutaneous Bullous

Anatomical Context for Amyloidosis, Cutaneous Bullous

MalaCards organs/tissues related to Amyloidosis, Cutaneous Bullous:

42
Skin

Publications for Amyloidosis, Cutaneous Bullous

Variations for Amyloidosis, Cutaneous Bullous

Expression for Amyloidosis, Cutaneous Bullous

Search GEO for disease gene expression data for Amyloidosis, Cutaneous Bullous.

Pathways for Amyloidosis, Cutaneous Bullous

GO Terms for Amyloidosis, Cutaneous Bullous

Sources for Amyloidosis, Cutaneous Bullous

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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