MCID: NNN022
MIFTS: 30

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

Categories: Genetic diseases, Fetal diseases, Rare diseases, Cancer diseases, Metabolic diseases

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

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

Name: Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 50 68 66
Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia 23 25
Cbl Syndrome 23 52
Nsll 23 68
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cble Complementation Type 23
Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia 52
 
Noonan Syndrome-Like Disorder with Jmml 52
Methylcobalamin Deficiency, Cble Type 23
Cbl Mutation-Associated Syndrome 23
Homocystinuria, Type Cble 23
Cble 23

Characteristics:

Orphanet epidemiological data:

52
cbl syndrome:
Inheritance: Autosomal dominant

HPO:

62
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 613563
Orphanet52 ORPHA363972
MedGen35 C3150803
MeSH37 D019465

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

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OMIM:50 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 noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia, is related to homocystinuria-megaloblastic anemia, cbl e type and methylmalonic aciduria and homocystinuria type cble, and has symptoms including lymphedema, polyhydramnios and short stature. An important gene associated with Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia is CBL (Cbl Proto-Oncogene), and among its related pathways is Infectious disease. Affiliated tissues include myeloid.

UniProtKB/Swiss-Prot:68 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia: A syndrome characterized by a phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples. The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects. Some have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia.

Wikipedia:69 Cbl (named after Casitas B-lineage Lymphoma) is a mammalian gene encoding the protein CBL which is an E3... more...

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
1homocystinuria-megaloblastic anemia, cbl e type12.0
2methylmalonic aciduria and homocystinuria type cble11.9
3noonan syndrome 110.4
4agammaglobulinemia 29.5CBL, MTRR
5nephronophthisis 159.2CBL, MTRR

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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Symptoms by clinical synopsis from OMIM:

613563

Clinical features from OMIM:

613563

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

(show all 34)
id Description Frequency HPO Source Accession
1 lymphedema rare (5%) HP:0001004
2 polyhydramnios rare (5%) HP:0001561
3 short stature rare (5%) HP:0004322
4 chylothorax rare (5%) HP:0010310
5 cryptorchidism HP:0000028
6 epicanthus HP:0000286
7 hypertelorism HP:0000316
8 triangular face HP:0000325
9 long philtrum HP:0000343
10 posteriorly rotated ears HP:0000358
11 low-set ears HP:0000369
12 macrotia HP:0000400
13 webbed neck HP:0000465
14 short neck HP:0000470
15 downslanted palpebral fissures HP:0000494
16 ptosis HP:0000508
17 delayed speech and language development HP:0000750
18 pectus excavatum HP:0000767
19 cafe-au-lait spot HP:0000957
20 muscular hypotonia HP:0001252
21 global developmental delay HP:0001263
22 joint hypermobility HP:0001382
23 joint laxity HP:0001388
24 bicuspid aortic valve HP:0001647
25 aortic valve stenosis HP:0001650
26 mitral regurgitation HP:0001653
27 deep philtrum HP:0002002
28 frontal bossing HP:0002007
29 cubitus valgus HP:0002967
30 depressed nasal bridge HP:0005280
31 wide intermamillary distance HP:0006610
32 sparse hair HP:0008070
33 juvenile myelomonocytic leukemia HP:0012209
34 thick vermilion border HP:0012471

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

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Interventional clinical trials:

Search ClinicalTrials, 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...

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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 Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia25
2 Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia23 CBL
3 Cble23 MTRR

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

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MalaCards organs/tissues related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

34
Myeloid

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:

68
id Symbol AA change Variation ID SNP ID
1CBLp.Gln367ProVAR_064332rs267606704
2CBLp.Lys382GluVAR_064333rs267606705
3CBLp.Asp390TyrVAR_064334rs267606707
4CBLp.Arg420GlnVAR_064335rs267606708

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
5CBLNM_005188.3(CBL): c.1228-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs727504426GRCh37Chr 11, 119149218: 119149218
6CBLNM_005188.3(CBL): c.1099C> A (p.Gln367Lys)single nucleotide variantLikely pathogenicrs727504504GRCh37Chr 11, 119148879: 119148879
7CBLNM_005188.3(CBL): c.1096-1G> Tsingle nucleotide variantPathogenicrs397517076GRCh37Chr 11, 119148875: 119148875
8CBLNM_005188.3(CBL): c.1096-1G> Csingle nucleotide variantPathogenicrs397517076GRCh37Chr 11, 119148875: 119148875
9CBLNM_005188.3(CBL): c.1096-4_1096-1delAAAGdeletionLikely pathogenic, Pathogenicrs397517077GRCh37Chr 11, 119148872: 119148875

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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Pathways related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1CBL, MTRR

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

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet