MCID: NNN025
MIFTS: 26

Noonan Syndrome 10

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

Aliases & Classifications for Noonan Syndrome 10

Summaries for Noonan Syndrome 10

UniProtKB/Swiss-Prot : 75 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, is also known as ns10. An important gene associated with Noonan Syndrome 10 is LZTR1 (Leucine Zipper Like Transcription Regulator 1). The drugs Glycerol and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin and heart, and related phenotypes are hypertelorism and short neck

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

OMIM : 57 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

Symptoms & Phenotypes for Noonan Syndrome 10

Symptoms via clinical synopsis from OMIM:

57
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

Hematology:
coagulation defects (in some patients)

Head And Neck Neck:
short neck

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

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


Clinical features from OMIM:

616564

Human phenotypes related to Noonan Syndrome 10:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 ptosis 32 HP:0000508
4 short stature 32 HP:0004322
5 cryptorchidism 32 HP:0000028
6 coarctation of aorta 32 HP:0001680
7 downslanted palpebral fissures 32 HP:0000494
8 pulmonic stenosis 32 HP:0001642
9 curly hair 32 occasional (7.5%) HP:0002212
10 abnormality of the sternum 32 HP:0000766
11 mitral stenosis 32 HP:0001718
12 abnormal cardiac septum morphology 32 HP:0001671
13 sparse and thin eyebrow 32 occasional (7.5%) HP:0000535

Drugs & Therapeutics for Noonan Syndrome 10

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Not yet recruiting NCT02936661 Phase 4 Tranexamic Acid;Placebo
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 29 LZTR1

Anatomical Context for Noonan Syndrome 10

MalaCards organs/tissues related to Noonan Syndrome 10:

41
Skin, Heart

Publications for Noonan Syndrome 10

Variations for Noonan Syndrome 10

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

75
# 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

ClinVar genetic disease variations for Noonan Syndrome 10:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 LZTR1 NM_006767.3(LZTR1): c.742G> A (p.Gly248Arg) single nucleotide variant Likely pathogenic rs869320686 GRCh37 Chromosome 22, 21344765: 21344765
2 LZTR1 NM_006767.3(LZTR1): c.742G> A (p.Gly248Arg) single nucleotide variant 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_006767.3(LZTR1): c.271A> G (p.Met91Val) single nucleotide variant Uncertain significance rs1135401945 GRCh38 Chromosome 22, 20985848: 20985848
8 LZTR1 NM_006767.3(LZTR1): c.271A> G (p.Met91Val) single nucleotide variant Uncertain significance rs1135401945 GRCh37 Chromosome 22, 21340137: 21340137
9 LZTR1 NM_006767.3(LZTR1): c.1904C> T (p.Pro635Leu) single nucleotide variant Likely pathogenic rs148677674 GRCh38 Chromosome 22, 20994988: 20994988
10 LZTR1 NM_006767.3(LZTR1): c.1904C> T (p.Pro635Leu) single nucleotide variant Likely pathogenic rs148677674 GRCh37 Chromosome 22, 21349277: 21349277
11 LZTR1 NM_006767.3(LZTR1): c.1982G> A (p.Gly661Glu) single nucleotide variant Uncertain significance rs750582696 GRCh37 Chromosome 22, 21350074: 21350074
12 LZTR1 NM_006767.3(LZTR1): c.1982G> A (p.Gly661Glu) single nucleotide variant Uncertain significance rs750582696 GRCh38 Chromosome 22, 20995785: 20995785

Expression for Noonan Syndrome 10

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

Pathways for Noonan Syndrome 10

GO Terms for Noonan Syndrome 10

Sources for Noonan Syndrome 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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