MCID: AMY101
MIFTS: 8

Amyloidosis, Cutaneous Bullous

Aliases & Classifications for Amyloidosis, Cutaneous Bullous

MalaCards integrated aliases for Amyloidosis, Cutaneous Bullous:

Name: Amyloidosis, Cutaneous Bullous 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amyloidosis, cutaneous bullous:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 204900
MedGen 42 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

Symptoms via clinical synopsis from OMIM:

57
Skin:
bullous lesions around joints

Misc:
onset age 10 to 13


Clinical features from OMIM:

204900

Human phenotypes related to Amyloidosis, Cutaneous Bullous:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 32 HP:0000951
2 amyloidosis 32 HP:0011034

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:

41
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 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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