MCID: NNN022
MIFTS: 28

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 51 69 67
Noonan-Like Syndrome Disorder with or Without Juvenile Myelomonocytic Leukemia 24 26
Cbl Syndrome 24 53
Nsll 24 69
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cble Complementation Type 24
Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia 53
 
Noonan Syndrome-Like Disorder with Jmml 53
Methylcobalamin Deficiency, Cble Type 24
Cbl Mutation-Associated Syndrome 24
Homocystinuria, Type Cble 24
Cble 24

Characteristics:

Orphanet epidemiological data:

53
cbl syndrome:
Inheritance: Autosomal dominant

HPO:

63
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 613563
Orphanet53 ORPHA363972
MedGen36 C3150803
MeSH38 D019465

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

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OMIM:51 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 methylmalonic aciduria and homocystinuria type cble and homocystinuria-megaloblastic anemia, cbl e type, 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).

UniProtKB/Swiss-Prot:69 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
1methylmalonic aciduria and homocystinuria type cble12.1
2homocystinuria-megaloblastic anemia, cbl e type11.9
3noonan syndrome 111.4
4agammaglobulinemia 29.5CBL, MTRR
5nephronophthisis 159.3CBL, 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

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

 63 (show all 34)
id Description HPO Frequency HPO Source Accession
1 lymphedema63 rare (5%) HP:0001004
2 polyhydramnios63 rare (5%) HP:0001561
3 short stature63 rare (5%) HP:0004322
4 chylothorax63 rare (5%) HP:0010310
5 cryptorchidism63 HP:0000028
6 epicanthus63 HP:0000286
7 hypertelorism63 HP:0000316
8 triangular face63 HP:0000325
9 long philtrum63 HP:0000343
10 posteriorly rotated ears63 HP:0000358
11 low-set ears63 HP:0000369
12 macrotia63 HP:0000400
13 webbed neck63 HP:0000465
14 short neck63 HP:0000470
15 downslanted palpebral fissures63 HP:0000494
16 ptosis63 HP:0000508
17 delayed speech and language development63 HP:0000750
18 pectus excavatum63 HP:0000767
19 cafe-au-lait spot63 HP:0000957
20 muscular hypotonia63 HP:0001252
21 global developmental delay63 HP:0001263
22 joint hypermobility63 HP:0001382
23 joint laxity63 HP:0001388
24 bicuspid aortic valve63 HP:0001647
25 aortic valve stenosis63 HP:0001650
26 mitral regurgitation63 HP:0001653
27 deep philtrum63 HP:0002002
28 frontal bossing63 HP:0002007
29 cubitus valgus63 HP:0002967
30 depressed nasal bridge63 HP:0005280
31 wide intermamillary distance63 HP:0006610
32 sparse hair63 HP:0008070
33 juvenile myelomonocytic leukemia63 HP:0012209
34 thick vermilion border63 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 Leukemia26
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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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:

69
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 (show all 16)
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> GSNVLikely pathogenic, 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.1112A> G (p.Tyr371Cys)SNVPathogenicrs387906666GRCh37Chr 11, 119148892: 119148892
9CBLNM_005188.3(CBL): c.1096-1G> CSNVPathogenicrs397517076GRCh37Chr 11, 119148875: 119148875
10CBLNM_005188.3(CBL): c.1096-4_1096-1delAAAGdeletionLikely pathogenic, Pathogenicrs397517077GRCh37Chr 11, 119148872: 119148875
11MTRRMTRR, 4-BP DEL, NT1675deletionPathogenicChr na, -1: -1
12MTRRMTRR, 3-BP DEL, 1726TTGdeletionPathogenicChr na, -1: -1
13MTRRNM_002454.2(MTRR): c.1459G> A (p.Gly487Arg)SNVPathogenicrs137853061GRCh37Chr 5, 7892928: 7892928
14MTRRMTRR, 2-BP INS, 1623TAinsertionPathogenicChr na, -1: -1
15MTRRMTRR, 140-BP INS, NT903insertionPathogenicChr na, -1: -1
16MTRRNM_002454.2(MTRR): c.1361C> T (p.Ser454Leu)SNVPathogenicrs137853062GRCh37Chr 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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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet