MCID: 2P2002
MIFTS: 9

2p21 Microdeletion Syndrome Without Cystinuria

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 2p21 Microdeletion Syndrome Without Cystinuria

MalaCards integrated aliases for 2p21 Microdeletion Syndrome Without Cystinuria:

Name: 2p21 Microdeletion Syndrome Without Cystinuria 59
Del(2)(p21) Without Cystinuria 59

Characteristics:

Orphanet epidemiological data:

59
2p21 microdeletion syndrome without cystinuria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA369881
ICD10 via Orphanet 34 Q93.5

Summaries for 2p21 Microdeletion Syndrome Without Cystinuria

MalaCards based summary : 2p21 Microdeletion Syndrome Without Cystinuria, also known as del(2)(p21) without cystinuria, is related to hypotonia-cystinuria syndrome and cystinuria. An important gene associated with 2p21 Microdeletion Syndrome Without Cystinuria is PREPL (Prolyl Endopeptidase Like). Related phenotype is muscle.

Related Diseases for 2p21 Microdeletion Syndrome Without Cystinuria

Diseases related to 2p21 Microdeletion Syndrome Without Cystinuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotonia-cystinuria syndrome 9.2 CAMKMT PREPL
2 cystinuria 9.0 CAMKMT PREPL

Symptoms & Phenotypes for 2p21 Microdeletion Syndrome Without Cystinuria

MGI Mouse Phenotypes related to 2p21 Microdeletion Syndrome Without Cystinuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 CAMKMT PREPL

Drugs & Therapeutics for 2p21 Microdeletion Syndrome Without Cystinuria

Search Clinical Trials , NIH Clinical Center for 2p21 Microdeletion Syndrome Without Cystinuria

Genetic Tests for 2p21 Microdeletion Syndrome Without Cystinuria

Anatomical Context for 2p21 Microdeletion Syndrome Without Cystinuria

Publications for 2p21 Microdeletion Syndrome Without Cystinuria

Variations for 2p21 Microdeletion Syndrome Without Cystinuria

Expression for 2p21 Microdeletion Syndrome Without Cystinuria

Search GEO for disease gene expression data for 2p21 Microdeletion Syndrome Without Cystinuria.

Pathways for 2p21 Microdeletion Syndrome Without Cystinuria

GO Terms for 2p21 Microdeletion Syndrome Without Cystinuria

Cellular components related to 2p21 Microdeletion Syndrome Without Cystinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 8.62 CAMKMT PREPL

Sources for 2p21 Microdeletion Syndrome Without Cystinuria

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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