NSLL
MCID: NNN022
MIFTS: 28

Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia (NSLL) 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 52 70 68
Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia 24 27
Cbl Syndrome 24 54
Nsll 24 70
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cble Complementation Type 24
Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia 54
 
Noonan Syndrome-Like Disorder with Jmml 54
Methylcobalamin Deficiency, Cble Type 24
Cbl Mutation-Associated Syndrome 24
Homocystinuria, Type Cble 24
Cble 24

Characteristics:

Orphanet epidemiological data:

54
cbl syndrome:
Inheritance: Autosomal dominant

HPO:

64
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 613563
Orphanet54 ORPHA363972
MedGen37 C3150803
MeSH39 D019465

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

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OMIM:52 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 joint laxity, joint laxity and cryptorchidism. An important gene associated with Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia is CBL (Cbl Proto-Oncogene). Related mouse phenotype Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot:70 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.

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 type11.8
2methylmalonic aciduria and homocystinuria type cble11.8
3noonan syndrome 111.3
4homocystinuria-megaloblastic anemia, cblg complementation type11.1
5homocystinuria10.2
6agammaglobulinemia 29.8CBL, MTRR
7mthfr deficiency9.8
8cblf9.8
9congenital disorder of glycosylation, type ij9.7CBL, 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 & Phenotypes 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

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

 64 (show all 34)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 epicanthus64 HP:0000286
3 hypertelorism64 HP:0000316
4 triangular face64 HP:0000325
5 long philtrum64 HP:0000343
6 posteriorly rotated ears64 HP:0000358
7 low-set ears64 HP:0000369
8 macrotia64 HP:0000400
9 webbed neck64 HP:0000465
10 short neck64 HP:0000470
11 downslanted palpebral fissures64 HP:0000494
12 ptosis64 HP:0000508
13 delayed speech and language development64 HP:0000750
14 pectus excavatum64 HP:0000767
15 cafe-au-lait spot64 HP:0000957
16 lymphedema64 HP:0001004
17 muscular hypotonia64 HP:0001252
18 global developmental delay64 HP:0001263
19 joint hypermobility64 HP:0001382
20 joint laxity64 HP:0001388
21 polyhydramnios64 HP:0001561
22 bicuspid aortic valve64 HP:0001647
23 aortic valve stenosis64 HP:0001650
24 mitral regurgitation64 HP:0001653
25 deep philtrum64 HP:0002002
26 frontal bossing64 HP:0002007
27 cubitus valgus64 HP:0002967
28 short stature64 HP:0004322
29 depressed nasal bridge64 HP:0005280
30 wide intermamillary distance64 HP:0006610
31 sparse hair64 HP:0008070
32 chylothorax64 HP:0010310
33 juvenile myelomonocytic leukemia64 HP:0012209
34 thick vermilion border64 HP:0012471

UMLS symptoms related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:


joint laxity

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.1CBL, MTRR

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 Leukemia27
2 Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia24 CBL
3 Cble24 MTRR

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

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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:

70
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)SNVPathogenicrs267606704GRCh37Chr 11, 119148880: 119148880
2CBLNM_ 005188.3(CBL): c.1144A> G (p.Lys382Glu)SNVPathogenicrs267606705GRCh37Chr 11, 119148924: 119148924
3CBLNM_ 005188.3(CBL): c.1168G> T (p.Asp390Tyr)SNVPathogenicrs267606707GRCh37Chr 11, 119148948: 119148948
4CBLNM_ 005188.3(CBL): c.1259G> A (p.Arg420Gln)SNVPathogenicrs267606708GRCh37Chr 11, 119149251: 119149251
5CBLNM_ 005188.3(CBL): c.1228-2A> GSNVPathogenic/ Likely pathogenicrs727504426GRCh37Chr 11, 119149218: 119149218
6CBLNM_ 005188.3(CBL): c.1099C> A (p.Gln367Lys)SNVLikely pathogenicrs727504504GRCh37Chr 11, 119148879: 119148879
7CBLNM_ 005188.3(CBL): c.1096-1G> TSNVPathogenicrs397517076GRCh37Chr 11, 119148875: 119148875
8CBLNM_ 005188.3(CBL): c.1096-1G> CSNVPathogenicrs397517076GRCh37Chr 11, 119148875: 119148875
9CBLNM_ 005188.3(CBL): c.1096-4_ 1096-1delAAAGdeletionPathogenic/ Likely 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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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet