MCID: CYS043
MIFTS: 6

Cysteine Peptiduria

Aliases & Classifications for Cysteine Peptiduria

MalaCards integrated aliases for Cysteine Peptiduria:

Name: Cysteine Peptiduria 58 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cysteine peptiduria:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 219550
MedGen 43 C1857438
UMLS 74 C1857438

Summaries for Cysteine Peptiduria

Description from OMIM: 219550

Related Diseases for Cysteine Peptiduria

Symptoms & Phenotypes for Cysteine Peptiduria

Human phenotypes related to Cysteine Peptiduria:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 abnormal circulating glycine concentration 33 HP:0010895
3 abnormal circulating cysteine concentration 33 HP:0010918

Symptoms via clinical synopsis from OMIM:

58
Neuro:
mental retardation

Lab:
urinary peptide containing 2:1 cysteine and glycine

Clinical features from OMIM:

219550

Drugs & Therapeutics for Cysteine Peptiduria

Search Clinical Trials , NIH Clinical Center for Cysteine Peptiduria

Genetic Tests for Cysteine Peptiduria

Anatomical Context for Cysteine Peptiduria

Publications for Cysteine Peptiduria

Variations for Cysteine Peptiduria

Expression for Cysteine Peptiduria

Search GEO for disease gene expression data for Cysteine Peptiduria.

Pathways for Cysteine Peptiduria

GO Terms for Cysteine Peptiduria

Sources for Cysteine Peptiduria

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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