NS10
MCID: NNN025
MIFTS: 37

Noonan Syndrome 10 (NS10)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome 10

Summaries for Noonan Syndrome 10

UniProtKB/Swiss-Prot : 76 Noonan syndrome 10: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.

MalaCards based summary : Noonan Syndrome 10, also known as ns10, is related to hepatocellular adenoma and hepatic encephalopathy. An important gene associated with Noonan Syndrome 10 is LZTR1 (Leucine Zipper Like Transcription Regulator 1), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. The drugs Tranexamic Acid and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are curly hair and sparse and thin eyebrow

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the LZTR1 gene on chromosome 22q11.

OMIM : 58 Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (616564)

Related Diseases for Noonan Syndrome 10

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2 Noonan Syndrome 3
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 6 Noonan Syndrome 7
Noonan Syndrome 8 Noonan Syndrome 9
Noonan Syndrome 10

Diseases related to Noonan Syndrome 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hepatocellular adenoma 10.2 G6PC GLUL
2 hepatic encephalopathy 10.2 ALB GLUL
3 salmonellosis 10.1 ALB LACTB
4 brain edema 10.1 ALB GLUL
5 gastroenteritis 10.1 ALB LACTB
6 mastitis 10.1 ALB CSN3
7 endocarditis 10.0 ALB LACTB
8 food allergy 10.0 ALB CSN3
9 bronchitis 10.0 ALB LACTB
10 glucose metabolism disease 10.0 ALB G6PC
11 otitis media 10.0 ALB LACTB
12 meningitis 9.8 ALB LACTB

Graphical network of the top 20 diseases related to Noonan Syndrome 10:



Diseases related to Noonan Syndrome 10

Symptoms & Phenotypes for Noonan Syndrome 10

Human phenotypes related to Noonan Syndrome 10:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 curly hair 33 occasional (7.5%) HP:0002212
2 sparse and thin eyebrow 33 occasional (7.5%) HP:0000535
3 hypertelorism 33 HP:0000316
4 short neck 33 HP:0000470
5 ptosis 33 HP:0000508
6 short stature 33 HP:0004322
7 cryptorchidism 33 HP:0000028
8 coarctation of aorta 33 HP:0001680
9 downslanted palpebral fissures 33 HP:0000494
10 pulmonic stenosis 33 HP:0001642
11 abnormality of the sternum 33 HP:0000766
12 mitral stenosis 33 HP:0001718
13 abnormal cardiac septum morphology 33 HP:0001671

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures

Growth Height:
short stature

Cardiovascular Heart:
pulmonary valve stenosis
septal defects
coarctation of the aorta
mitral valve stenosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skin Nails Hair Hair:
curly hair (uncommon)
sparse eyebrows (uncommon)

Head And Neck Neck:
short neck

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
learning disabilities (in some patients)

Hematology:
coagulation defects (in some patients)

Clinical features from OMIM:

616564

Drugs & Therapeutics for Noonan Syndrome 10

Drugs for Noonan Syndrome 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2
Glycerol Approved, Investigational Phase 4 56-81-5 753
3 Coagulants Phase 4
4 Hemostatics Phase 4
5 Antifibrinolytic Agents Phase 4
6 Cola Phase 4
7 Protective Agents Phase 4,Phase 2
8 Pharmaceutical Solutions Phase 4
9
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
10
Etoposide Approved Phase 2 33419-42-0 36462
11
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
12
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
13
Ifosfamide Approved Phase 2 3778-73-2 3690
14
Mesna Approved, Investigational Phase 2 3375-50-6 598
15
Dactinomycin Approved, Investigational Phase 2 50-76-0 457193 2019
16
Lenograstim Approved, Investigational Phase 2 135968-09-1
17
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
18 Nucleic Acid Synthesis Inhibitors Phase 2
19 Anti-Infective Agents Phase 2
20 Antimitotic Agents Phase 2
21
Isophosphamide mustard Phase 2 0
22 Immunologic Factors Phase 2
23 Alkylating Agents Phase 2
24 Antineoplastic Agents, Alkylating Phase 2
25 Topoisomerase Inhibitors Phase 2
26 Antineoplastic Agents, Phytogenic Phase 2
27 Immunosuppressive Agents Phase 2
28 Etoposide phosphate Phase 2
29 Adjuvants, Immunologic Phase 2
30 Antirheumatic Agents Phase 2
31 Anti-Bacterial Agents Phase 2
32 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Unknown status NCT02936661 Phase 4 Tranexamic Acid;Placebo
2 A Within Subjects Comparison of Two Antegrade Flushing Regimens in Children Recruiting NCT02435069 Phase 4 NS and USP Glycerin - Dose Response;NS and USP Glycerin - Effectiveness
3 IV Glucose for Dehydration Treatment Completed NCT01285713 Phase 2 5% Dextrose (D5) in Normal Saline (NS);Normal Saline (NS)
4 Surgery and/or Chemotherapy in Treating Children With Infantile, Congenital, or Childhood Fibrosarcoma Terminated NCT00072280 Phase 2 cyclophosphamide;etoposide;ifosfamide;vincristine sulfate

Search NIH Clinical Center for Noonan Syndrome 10

Genetic Tests for Noonan Syndrome 10

Genetic tests related to Noonan Syndrome 10:

# Genetic test Affiliating Genes
1 Noonan Syndrome 10 30 LZTR1

Anatomical Context for Noonan Syndrome 10

MalaCards organs/tissues related to Noonan Syndrome 10:

42
Skin, Brain, Eye

Publications for Noonan Syndrome 10

Articles related to Noonan Syndrome 10:

# Title Authors Year
1
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. ( 30442762 )
2018
2
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. ( 25795793 )
2015

Variations for Noonan Syndrome 10

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 10:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 LZTR1 p.Tyr119Cys VAR_075657
2 LZTR1 p.Ser247Asn VAR_075658 rs797045166
3 LZTR1 p.Gly248Arg VAR_075659 rs869320686
4 LZTR1 p.Arg284Cys VAR_075660 rs797045165
5 LZTR1 p.His287Tyr VAR_075661
6 LZTR1 p.His121Asp VAR_081295
7 LZTR1 p.Arg170Trp VAR_081299
8 LZTR1 p.Glu217Ala VAR_081305
9 LZTR1 p.Arg283Gln VAR_081307 rs122343027
10 LZTR1 p.Glu563Gln VAR_081319 rs137424005
11 LZTR1 p.Arg688Gly VAR_081323
12 LZTR1 p.Arg697Gln VAR_081324 rs370638947
13 LZTR1 p.Pro701His VAR_081326 rs132757982
14 LZTR1 p.Arg755Gln VAR_081328 rs762834512
15 LZTR1 p.Ile821Thr VAR_081333 rs127551113

ClinVar genetic disease variations for Noonan Syndrome 10:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 LZTR1 NM_006767.3(LZTR1): c.742G> A (p.Gly248Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869320686 GRCh37 Chromosome 22, 21344765: 21344765
2 LZTR1 NM_006767.3(LZTR1): c.742G> A (p.Gly248Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869320686 GRCh38 Chromosome 22, 20990476: 20990476
3 LZTR1 NM_006767.3(LZTR1): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic rs797045165 GRCh38 Chromosome 22, 20991686: 20991686
4 LZTR1 NM_006767.3(LZTR1): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic rs797045165 GRCh37 Chromosome 22, 21345975: 21345975
5 LZTR1 NM_006767.3(LZTR1): c.740G> A (p.Ser247Asn) single nucleotide variant Pathogenic rs797045166 GRCh38 Chromosome 22, 20990474: 20990474
6 LZTR1 NM_006767.3(LZTR1): c.740G> A (p.Ser247Asn) single nucleotide variant Pathogenic rs797045166 GRCh37 Chromosome 22, 21344763: 21344763
7 LZTR1 NM_006767.4(LZTR1): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs189150283 GRCh37 Chromosome 22, 21346593: 21346593
8 LZTR1 NM_006767.4(LZTR1): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs189150283 GRCh38 Chromosome 22, 20992304: 20992304
9 LZTR1 NM_006767.3(LZTR1): c.1234C> T (p.Arg412Cys) single nucleotide variant Uncertain significance rs747430075 GRCh37 Chromosome 22, 21347167: 21347167
10 LZTR1 NM_006767.3(LZTR1): c.1234C> T (p.Arg412Cys) single nucleotide variant Uncertain significance rs747430075 GRCh38 Chromosome 22, 20992878: 20992878
11 LZTR1 NM_006767.3(LZTR1): c.271A> G (p.Met91Val) single nucleotide variant Uncertain significance rs1135401945 GRCh38 Chromosome 22, 20985848: 20985848
12 LZTR1 NM_006767.3(LZTR1): c.271A> G (p.Met91Val) single nucleotide variant Uncertain significance rs1135401945 GRCh37 Chromosome 22, 21340137: 21340137
13 LZTR1 NM_006767.3(LZTR1): c.1904C> T (p.Pro635Leu) single nucleotide variant Likely pathogenic rs148677674 GRCh38 Chromosome 22, 20994988: 20994988
14 LZTR1 NM_006767.3(LZTR1): c.1904C> T (p.Pro635Leu) single nucleotide variant Likely pathogenic rs148677674 GRCh37 Chromosome 22, 21349277: 21349277
15 LZTR1 NM_006767.3(LZTR1): c.1982G> A (p.Gly661Glu) single nucleotide variant Uncertain significance rs750582696 GRCh37 Chromosome 22, 21350074: 21350074
16 LZTR1 NM_006767.3(LZTR1): c.1982G> A (p.Gly661Glu) single nucleotide variant Uncertain significance rs750582696 GRCh38 Chromosome 22, 20995785: 20995785
17 LZTR1 NM_006767.3(LZTR1): c.1739T> C (p.Leu580Pro) single nucleotide variant Uncertain significance rs1555928697 GRCh37 Chromosome 22, 21348970: 21348970
18 LZTR1 NM_006767.3(LZTR1): c.1739T> C (p.Leu580Pro) single nucleotide variant Uncertain significance rs1555928697 GRCh38 Chromosome 22, 20994681: 20994681
19 LZTR1 NM_006767.3(LZTR1): c.848G> A (p.Arg283Gln) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 22, 21345973: 21345973
20 LZTR1 NM_006767.3(LZTR1): c.848G> A (p.Arg283Gln) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 22, 20991684: 20991684

Expression for Noonan Syndrome 10

Search GEO for disease gene expression data for Noonan Syndrome 10.

Pathways for Noonan Syndrome 10

Pathways related to Noonan Syndrome 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.27 ALB G6PC

GO Terms for Noonan Syndrome 10

Biological processes related to Noonan Syndrome 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to starvation GO:0009267 8.96 ALB GLUL
2 lactation GO:0007595 8.62 CSN3 HIF1A

Sources for Noonan Syndrome 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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