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 58
Del(2)(p21) Without Cystinuria 58

Characteristics:

Orphanet epidemiological data:

58
2p21 microdeletion syndrome without cystinuria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA369881

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 cystinuria and myasthenic syndrome, congenital, 22. An important gene associated with 2p21 Microdeletion Syndrome Without Cystinuria is CAMKMT (Calmodulin-Lysine N-Methyltransferase).

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 cystinuria 9.7 PREPL CAMKMT
2 myasthenic syndrome, congenital, 22 9.6 PREPL CAMKMT
3 hypotonia-cystinuria syndrome 9.6 PREPL CAMKMT
4 hypotonia 9.5 PREPL CAMKMT

Symptoms & Phenotypes for 2p21 Microdeletion Syndrome Without Cystinuria

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 PREPL CAMKMT

Sources for 2p21 Microdeletion Syndrome Without Cystinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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