MCID: NNN022
MIFTS: 22

Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia malady

Genetic diseases (common) category

Aliases & Classifications for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

Aliases & Descriptions for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

Name: Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 46 20 22
 
Cble 20


Classifications:



External Ids:

OMIM46 613563

Summaries for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section
OMIM:46 Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by... (613563) more...

MalaCards based summary: Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia, also known as cble, is related to noonan syndrome 1 and noonan syndrome-like disorder with juvenile myelomonocytic leukemia, and has symptoms including autosomal dominant inheritance, epicanthus and hypertelorism. An important gene associated with Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia is CBL (Cbl proto-oncogene, E3 ubiquitin protein ligase).

Related Diseases for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

Diseases related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome 110.6
2noonan syndrome-like disorder with juvenile myelomonocytic leukemia10.6
3homocystinuria-megaloblastic anemia, cbl e type10.5
4homocystinuria10.5
5homocystinuria-megaloblastic anemia, cblg complementation type10.4
6methylmalonic aciduria and homocystinuria type cble10.3
7cblg10.3

Graphical network of diseases related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:



Diseases related to noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

Symptoms for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section


Clinical features from OMIM:

613563

HPO human phenotypes related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 epicanthus HP:0000286
3 hypertelorism HP:0000316
4 triangular face HP:0000325
5 posteriorly rotated ears HP:0000358
6 low-set ears HP:0000369
7 macrotia HP:0000400
8 short neck HP:0000470
9 ptosis HP:0000508
10 pectus excavatum HP:0000767
11 global developmental delay HP:0001263
12 joint hypermobility HP:0001382
13 bicuspid aortic valve HP:0001647
14 aortic valve stenosis HP:0001650
15 mitral regurgitation HP:0001653
16 deep philtrum HP:0002002
17 depressed nasal bridge HP:0005280
18 wide intermamillary distance HP:0006610
19 sparse hair HP:0008070
20 juvenile myelomonocytic leukemia HP:0012209

Drugs & Therapeutics for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

Drug clinical trials:

Search ClinicalTrials for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia

Search NIH Clinical Center for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia

Genetic Tests for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

Genetic tests related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

id Genetic test Affiliating Genes
1 Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia20 CBL
2 Cble20 MTRR
3 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia22

Anatomical Context for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

Animal Models for Noonan Syndrome-Like Disorder with or Without Juvenile... or affiliated genes

About this section

Publications for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

Variations for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

63
id Symbol AA change Variation ID SNP ID
1CBLp.Gln367ProVAR_064332
2CBLp.Lys382GluVAR_064333
3CBLp.Asp390TyrVAR_064334
4CBLp.Arg420GlnVAR_064335

Clinvar genetic disease variations for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CBLNM_005188.3(CBL): c.1100A> C (p.Gln367Pro)single nucleotide variantPathogenicrs267606704GRCh37Chr 11, 119148880: 119148880
2CBLNM_005188.3(CBL): c.1144A> G (p.Lys382Glu)single nucleotide variantPathogenicrs267606705GRCh37Chr 11, 119148924: 119148924
3CBLNM_005188.3(CBL): c.1168G> T (p.Asp390Tyr)single nucleotide variantPathogenicrs267606707GRCh37Chr 11, 119148948: 119148948
4CBLNM_005188.3(CBL): c.1259G> A (p.Arg420Gln)single nucleotide variantPathogenicrs267606708GRCh37Chr 11, 119149251: 119149251

Expression for genes affiliated with Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section
Search GEO for disease gene expression data for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia.

Pathways for genes affiliated with Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

Compounds for genes affiliated with Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

GO Terms for genes affiliated with Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section

Sources for Noonan Syndrome-Like Disorder with or Without Juvenile...

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet