MCID: CYS043
MIFTS: 7

Cysteine Peptiduria

Aliases & Classifications for Cysteine Peptiduria

MalaCards integrated aliases for Cysteine Peptiduria:

Name: Cysteine Peptiduria 57 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cysteine peptiduria:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 219550
MedGen 42 C1857438
UMLS 73 C1857438

Summaries for Cysteine Peptiduria

MalaCards based summary : Cysteine Peptiduria Related phenotypes are intellectual disability and abnormality of glycine metabolism

Description from OMIM: 219550

Related Diseases for Cysteine Peptiduria

Symptoms & Phenotypes for Cysteine Peptiduria

Symptoms via clinical synopsis from OMIM:

57
Neuro:
mental retardation

Lab:
urinary peptide containing 2:1 cysteine and glycine


Clinical features from OMIM:

219550

Human phenotypes related to Cysteine Peptiduria:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 abnormality of glycine metabolism 32 HP:0010895
3 abnormality of cysteine metabolism 32 HP:0010918

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 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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