MCID: NNN022
MIFTS: 31

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

Genetic diseases, Neuronal diseases, Metabolic diseases, Blood diseases, Rare diseases, Cancer diseases categories

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

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Sources:
49OMIM, 22GeneTests, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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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 49 22 24 67
Nsll 22 67
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cble Complementation Type 22
Functional Methionine Synthase Deficiency Type Cble 51
Methylcobalamin Deficiency, Cble Type 22
 
Methylcobalamin Deficiency Type Cble 51
Cbl Mutation-Associated Syndrome 22
Homocystinuria, Type Cble 22
Cbl Syndrome 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
functional methionine synthase deficiency type cble:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 613563
Orphanet51 2169
ICD10 via Orphanet28 E72.1
MedGen34 C3150803
MeSH36 D019465

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

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OMIM:49 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 nsll, 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, E3 Ubiquitin Protein Ligase), and among its related pathways is Infectious disease. Affiliated tissues include lung.

UniProtKB/Swiss-Prot:67 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 type11.0
2methylmalonic aciduria and homocystinuria type cble10.6
3noonan syndrome 110.6
4noonan syndrome-like disorder with juvenile myelomonocytic leukemia10.6
5leukemia, acute myelomonocytic, somatic, somatic10.1
6leukemia, chronic myeloid, somatic9.8CBL, MTRR
7noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia9.7CBL, 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 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

Symptoms:

 51 (show all 9)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anaemia
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • nystagmus
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • nerve conduction abnormality
  • hypotonia

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

(show all 35)
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 autosomal dominant inheritance HP:0000006
6 cryptorchidism HP:0000028
7 epicanthus HP:0000286
8 hypertelorism HP:0000316
9 triangular face HP:0000325
10 long philtrum HP:0000343
11 posteriorly rotated ears HP:0000358
12 low-set ears HP:0000369
13 macrotia HP:0000400
14 webbed neck HP:0000465
15 short neck HP:0000470
16 downslanted palpebral fissures HP:0000494
17 ptosis HP:0000508
18 delayed speech and language development HP:0000750
19 pectus excavatum HP:0000767
20 cafe-au-lait spot HP:0000957
21 muscular hypotonia HP:0001252
22 global developmental delay HP:0001263
23 joint hypermobility HP:0001382
24 joint laxity HP:0001388
25 bicuspid aortic valve HP:0001647
26 aortic valve stenosis HP:0001650
27 mitral regurgitation HP:0001653
28 deep philtrum HP:0002002
29 frontal bossing HP:0002007
30 cubitus valgus HP:0002967
31 depressed nasal bridge HP:0005280
32 wide intermamillary distance HP:0006610
33 sparse hair HP:0008070
34 juvenile myelomonocytic leukemia HP:0012209
35 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-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia22 CBL
2 Cble22 MTRR
3 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia24

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:

33
Lung

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:

67
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 (show all 14)
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> Csingle nucleotide variantPathogenicrs397517076GRCh37Chr 11, 119148875: 119148875
8CBLNM_005188.3(CBL): c.1096-4_1096-1delAAAGdeletionLikely pathogenic, Pathogenicrs397517077GRCh37Chr 11, 119148872: 119148875
9MTRRMTRR, 4-BP DEL, NT1675deletionPathogenic
10MTRRMTRR, 3-BP DEL, 1726TTGdeletionPathogenic
11MTRRNM_002454.2(MTRR): c.1459G> A (p.Gly487Arg)single nucleotide variantPathogenicrs137853061GRCh37Chr 5, 7892928: 7892928
12MTRRMTRR, 2-BP INS, 1623TAinsertionPathogenic
13MTRRMTRR, 140-BP INS, NT903insertionPathogenic
14MTRRNM_002454.2(MTRR): c.1361C> T (p.Ser454Leu)single nucleotide variantPathogenicrs137853062GRCh37Chr 5, 7891518: 7891518

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 pathways (with members indented)ScoreTop 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet