MCID: NNN022
MIFTS: 22

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

Genetic diseases (common) category

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

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OMIM:45 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).

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

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

Name: Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 45 20 22
 
Cble 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 613563

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

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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...

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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...

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Drug clinical trials:

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

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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...

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

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

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

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

62
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:

6
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...

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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...

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

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet