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...

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

Name: Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 54 66 69
Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia 24 29
Cbl Syndrome 24 56
Nsll 24 66
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cble Complementation Type 24
Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia 56
Noonan Syndrome-Like Disorder with Jmml 56
Methylcobalamin Deficiency, Cble Type 24
Cbl Mutation-Associated Syndrome 24
Homocystinuria, Type Cble 24
Cble 24

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 613563
Orphanet 56 ORPHA363972
MedGen 40 C3150803
MeSH 42 D019465

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

OMIM : 54 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, hypertelorism and low-set ears. An important gene associated with Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia is CBL (Cbl Proto-Oncogene). Related phenotype is Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot : 66 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...

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

id Related Disease Score Top Affiliating Genes
1 homocystinuria-megaloblastic anemia, cbl e type 11.8
2 methylmalonic aciduria and homocystinuria type cble 11.8
3 noonan syndrome 1 11.3
4 homocystinuria-megaloblastic anemia, cblg complementation type 11.1
5 homocystinuria 10.2
6 agammaglobulinemia 2 9.8 CBL MTRR
7 mthfr deficiency 9.8
8 cblf 9.8
9 congenital disorder of glycosylation, type ij 9.7 CBL MTRR

Graphical network of the top 20 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...

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:

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

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.32 CBL
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.32 MTRR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.32 CBL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.32 CBL MTRR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.32 CBL
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.32 MTRR
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.32 CBL
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.32 MTRR
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.32 CBL

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

Search Clinical Trials , 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...

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 Leukemia 29
2 Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia 24 CBL
3 Cble 24 MTRR

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

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 CBL p.Gln367Pro VAR_064332 rs267606704
2 CBL p.Lys382Glu VAR_064333 rs267606705
3 CBL p.Asp390Tyr VAR_064334 rs267606707
4 CBL p.Arg420Gln VAR_064335 rs267606708

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

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 MTRR MTRR, 4-BP DEL, NT1675 deletion Pathogenic
2 MTRR MTRR, 3-BP DEL, 1726TTG deletion Pathogenic
3 MTRR NM_002454.2(MTRR): c.1459G> A (p.Gly487Arg) single nucleotide variant Pathogenic rs137853061 GRCh37 Chromosome 5, 7892928: 7892928
4 MTRR MTRR, 2-BP INS, 1623TA insertion Pathogenic
5 MTRR MTRR, 140-BP INS, NT903 insertion Pathogenic
6 MTRR NM_002454.2(MTRR): c.1361C> T (p.Ser454Leu) single nucleotide variant Pathogenic rs137853062 GRCh37 Chromosome 5, 7891518: 7891518
7 CBL NM_005188.3(CBL): c.1100A> C (p.Gln367Pro) single nucleotide variant Pathogenic rs267606704 GRCh37 Chromosome 11, 119148880: 119148880
8 CBL NM_005188.3(CBL): c.1144A> G (p.Lys382Glu) single nucleotide variant Pathogenic rs267606705 GRCh37 Chromosome 11, 119148924: 119148924
9 CBL NM_005188.3(CBL): c.1168G> T (p.Asp390Tyr) single nucleotide variant Pathogenic rs267606707 GRCh37 Chromosome 11, 119148948: 119148948
10 CBL NM_005188.3(CBL): c.1259G> A (p.Arg420Gln) single nucleotide variant Pathogenic rs267606708 GRCh37 Chromosome 11, 119149251: 119149251
11 CBL NM_005188.3(CBL): c.1111T> C (p.Tyr371His) single nucleotide variant Pathogenic/Likely pathogenic rs267606706 GRCh37 Chromosome 11, 119148891: 119148891
12 CBL CBL, IVS8AS, A-G, -2 single nucleotide variant Pathogenic
13 CBL NM_005188.3(CBL): c.1150T> C (p.Cys384Arg) single nucleotide variant Pathogenic/Likely pathogenic rs387906664 GRCh37 Chromosome 11, 119148930: 119148930
14 CBL NM_005188.3(CBL): c.1186T> C (p.Cys396Arg) single nucleotide variant Pathogenic rs387906665 GRCh37 Chromosome 11, 119148966: 119148966
15 CBL NM_005188.3(CBL): c.1112A> G (p.Tyr371Cys) single nucleotide variant Pathogenic rs387906666 GRCh37 Chromosome 11, 119148892: 119148892
16 CBL NM_005188.3(CBL): c.1096-1G> C single nucleotide variant Pathogenic rs397517076 GRCh37 Chromosome 11, 119148875: 119148875
17 CBL NM_005188.3(CBL): c.1096-4_1096-1delAAAG deletion Pathogenic/Likely pathogenic rs397517077 GRCh37 Chromosome 11, 119148872: 119148875
18 CBL NM_005188.3(CBL): c.1099C> A (p.Gln367Lys) single nucleotide variant Likely pathogenic rs727504504 GRCh37 Chromosome 11, 119148879: 119148879
19 CBL NM_005188.3(CBL): c.1228-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs727504426 GRCh37 Chromosome 11, 119149218: 119149218
20 CBL NM_005188.3(CBL): c.1096-1G> T single nucleotide variant Pathogenic rs397517076 GRCh37 Chromosome 11, 119148875: 119148875

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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