MCID: HYP851
MIFTS: 5

Hypotonia-Cystinuria Type 1 Syndrome

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypotonia-Cystinuria Type 1 Syndrome

MalaCards integrated aliases for Hypotonia-Cystinuria Type 1 Syndrome:

Name: Hypotonia-Cystinuria Type 1 Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hypotonia-cystinuria type 1 syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 E72.0
Orphanet 58 ORPHA238517

Summaries for Hypotonia-Cystinuria Type 1 Syndrome

MalaCards based summary : Hypotonia-Cystinuria Type 1 Syndrome

Related Diseases for Hypotonia-Cystinuria Type 1 Syndrome

Diseases in the Hypotonia-Cystinuria Syndrome family:

Hypotonia-Cystinuria Type 1 Syndrome

Symptoms & Phenotypes for Hypotonia-Cystinuria Type 1 Syndrome

Drugs & Therapeutics for Hypotonia-Cystinuria Type 1 Syndrome

Search Clinical Trials , NIH Clinical Center for Hypotonia-Cystinuria Type 1 Syndrome

Genetic Tests for Hypotonia-Cystinuria Type 1 Syndrome

Anatomical Context for Hypotonia-Cystinuria Type 1 Syndrome

Publications for Hypotonia-Cystinuria Type 1 Syndrome

Variations for Hypotonia-Cystinuria Type 1 Syndrome

Expression for Hypotonia-Cystinuria Type 1 Syndrome

Search GEO for disease gene expression data for Hypotonia-Cystinuria Type 1 Syndrome.

Pathways for Hypotonia-Cystinuria Type 1 Syndrome

GO Terms for Hypotonia-Cystinuria Type 1 Syndrome

Sources for Hypotonia-Cystinuria Type 1 Syndrome

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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