NS10
MCID: NNN025
MIFTS: 32

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 : 72 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. NS10 inheritance is autosomal dominant.

MalaCards based summary : Noonan Syndrome 10, also known as ns10, is related to neurilemmomatosis and noonan syndrome 6. An important gene associated with Noonan Syndrome 10 is LZTR1 (Leucine Zipper Like Transcription Regulator 1). Affiliated tissues include 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® : 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) (Updated 20-May-2021)

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 Noonan Syndrome 11
Noonan Syndrome 12 Noonan Syndrome 13

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

# Related Disease Score Top Affiliating Genes
1 neurilemmomatosis 9.9 REX1BD LZTR1
2 noonan syndrome 6 9.7 SLC17A5 KLHDC3
3 noonan syndrome 9 9.4 KLHDC4 KLHDC3 KLHDC1 FEM1C

Symptoms & Phenotypes for Noonan Syndrome 10

Human phenotypes related to Noonan Syndrome 10:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 curly hair 31 occasional (7.5%) HP:0002212
2 sparse and thin eyebrow 31 occasional (7.5%) HP:0000535
3 ptosis 31 HP:0000508
4 short neck 31 HP:0000470
5 hypertelorism 31 HP:0000316
6 short stature 31 HP:0004322
7 cryptorchidism 31 HP:0000028
8 coarctation of aorta 31 HP:0001680
9 downslanted palpebral fissures 31 HP:0000494
10 abnormal cardiac septum morphology 31 HP:0001671
11 pulmonic stenosis 31 HP:0001642
12 mitral stenosis 31 HP:0001718
13 abnormal sternum morphology 31 HP:0000766

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
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 (Updated 20-May-2021)

Drugs & Therapeutics for Noonan Syndrome 10

Search Clinical Trials , 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:

40
Eye

Publications for Noonan Syndrome 10

Articles related to Noonan Syndrome 10:

(show all 18)
# Title Authors PMID Year
1
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 6 57
30368668 2019
2
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 57 6
25795793 2015
3
Oligo-astrocytoma in LZTR1-related Noonan syndrome. 6
30664951 2020
4
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 6
30442762 2018
5
Expanding the mutational spectrum of LZTR1 in schwannomatosis. 6
25335493 2015
6
The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. 6
16356934 2006
7
Anti-Obesity and Antidiabetic Effects of Nelumbinis Semen Powder in High-Fat Diet-Induced Obese C57BL/6 Mice. 61
33266423 2020
8
Diversity and characterization of cultivable oleaginous yeasts isolated from mangrove forests. 61
30083778 2018
9
Comparative Vector Competence of North American Culex pipiens and Culex quinquefasciatus for African and European Lineage 2 West Nile Viruses. 61
29637885 2018
10
Evaluation of HDPE and LDPE degradation by fungus, implemented by statistical optimization. 61
28051105 2017
11
Validation of a dendron concept to tune colloidal stability, MRI relaxivity and bioelimination of functional nanoparticles. 61
32262421 2015
12
Discovery of a novel bottlenose dolphin coronavirus reveals a distinct species of marine mammal coronavirus in Gammacoronavirus. 61
24227844 2014
13
Failure of Intravenous Lipid Emulsion to Reduce Diazinon-induced Acute Toxicity: a Pilot Study in Rats. 61
24523769 2013
14
Penetration enhancer containing vesicles as carriers for dermal delivery of tretinoin. 61
21530626 2011
15
Liposomes and niosomes as potential carriers for dermal delivery of minoxidil. 61
17365280 2007
16
Effect of normal and waxy maize starch on growth, food utilization and hepatic glucose metabolism in European sea bass (Dicentrarchus labrax) juveniles. 61
16343962 2006
17
Getting to grips with business plans, audit and applications. 61
11209359 2000
18
Deletion of antigens of the Lewis a/b blood group family in human prostatic carcinoma. 61
2454582 1988

Variations for Noonan Syndrome 10

ClinVar genetic disease variations for Noonan Syndrome 10:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LZTR1 NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) SNV Pathogenic 209088 rs869320686 GRCh37: 22:21344765-21344765
GRCh38: 22:20990476-20990476
2 LZTR1 NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) SNV Pathogenic 209089 rs797045165 GRCh37: 22:21345975-21345975
GRCh38: 22:20991686-20991686
3 LZTR1 NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) SNV Pathogenic 209090 rs797045166 GRCh37: 22:21344763-21344763
GRCh38: 22:20990474-20990474
4 LZTR1 NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) SNV Pathogenic 209089 rs797045165 GRCh37: 22:21345975-21345975
GRCh38: 22:20991686-20991686
5 LZTR1 NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) SNV Pathogenic 289969 rs189150283 GRCh37: 22:21346593-21346593
GRCh38: 22:20992304-20992304
6 LZTR1 NM_006767.4(LZTR1):c.1785+1G>C SNV Pathogenic 984443 GRCh37: 22:21349017-21349017
GRCh38: 22:20994728-20994728
7 LZTR1 NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) SNV Pathogenic 488877 rs149850248 GRCh37: 22:21346527-21346527
GRCh38: 22:20992238-20992238
8 LZTR1 NM_006767.4(LZTR1):c.27dup (p.Gln10fs) Duplication Pathogenic 372684 rs587777613 GRCh37: 22:21336680-21336681
GRCh38: 22:20982391-20982392
9 LZTR1 NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) SNV Pathogenic 599030 rs150419186 GRCh37: 22:21343948-21343948
GRCh38: 22:20989659-20989659
10 LZTR1 NM_006767.4(LZTR1):c.2159del (p.Phe720fs) Deletion Pathogenic 1034311 GRCh37: 22:21350340-21350340
GRCh38: 22:20996051-20996051
11 LZTR1 NM_006767.4(LZTR1):c.2303dup (p.Thr769fs) Duplication Pathogenic 1034313 GRCh37: 22:21351067-21351068
GRCh38: 22:20996778-20996779
12 LZTR1 NM_006767.3:c.404delG Deletion Pathogenic 1034315 GRCh37: 22:21342298-21342298
GRCh38: 22:20988009-20988009
13 LZTR1 NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser) SNV Likely pathogenic 978716 GRCh37: 22:21344745-21344745
GRCh38: 22:20990456-20990456
14 LZTR1 NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) SNV Likely pathogenic 433552 rs148677674 GRCh37: 22:21349277-21349277
GRCh38: 22:20994988-20994988
15 LZTR1 NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) SNV Likely pathogenic 561716 rs1223430276 GRCh37: 22:21345973-21345973
GRCh38: 22:20991684-20991684
16 LZTR1 NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) SNV Likely pathogenic 209088 rs869320686 GRCh37: 22:21344765-21344765
GRCh38: 22:20990476-20990476
17 LZTR1 NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) SNV Uncertain significance 448963 rs750582696 GRCh37: 22:21350074-21350074
GRCh38: 22:20995785-20995785
18 LZTR1 NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro) SNV Uncertain significance 559507 rs1555928697 GRCh37: 22:21348970-21348970
GRCh38: 22:20994681-20994681
19 LZTR1 NM_006767.4(LZTR1):c.271A>G (p.Met91Val) SNV Uncertain significance 431371 rs1135401945 GRCh37: 22:21340137-21340137
GRCh38: 22:20985848-20985848
20 LZTR1 NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser) SNV Uncertain significance 998213 GRCh37: 22:21347187-21347187
GRCh38: 22:20992898-20992898
21 LZTR1 NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg) SNV Uncertain significance 998255 GRCh37: 22:21351551-21351551
GRCh38: 22:20997262-20997262
22 LZTR1 NM_006767.4(LZTR1):c.2070-12C>A SNV Uncertain significance 1029083 GRCh37: 22:21350240-21350240
GRCh38: 22:20995951-20995951
23 LZTR1 NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) SNV Uncertain significance 546581 rs1555927321 GRCh37: 22:21340138-21340138
GRCh38: 22:20985849-20985849
24 LZTR1 NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) SNV Uncertain significance 373089 rs747430075 GRCh37: 22:21347167-21347167
GRCh38: 22:20992878-20992878
25 LZTR1 NM_006767.4(LZTR1):c.360C>A (p.His120Gln) SNV Uncertain significance 634899 rs1249605552 GRCh37: 22:21341832-21341832
GRCh38: 22:20987543-20987543
26 LZTR1 NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His) SNV Uncertain significance 634900 rs1601723615 GRCh37: 22:21351010-21351010
GRCh38: 22:20996721-20996721
27 LZTR1 NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) SNV Uncertain significance 800844 rs767374538 GRCh37: 22:21348528-21348528
GRCh38: 22:20994239-20994239
28 LZTR1 NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser) SNV Uncertain significance 1034314 GRCh37: 22:21351623-21351623
GRCh38: 22:20997334-20997334
29 LZTR1 NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) SNV Uncertain significance 1034312 GRCh37: 22:21350355-21350355
GRCh38: 22:20996066-20996066
30 LZTR1 NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) SNV Uncertain significance 561683 rs1390048261 GRCh37: 22:21345967-21345967
GRCh38: 22:20991678-20991678
31 LZTR1 NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser) SNV Uncertain significance 1034310 GRCh37: 22:21347187-21347187
GRCh38: 22:20992898-20992898
32 LZTR1 NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr) SNV Uncertain significance 1029084 GRCh37: 22:21341794-21341794
GRCh38: 22:20987505-20987505
33 LZTR1 NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr) SNV Uncertain significance 1029085 GRCh37: 22:21336718-21336718
GRCh38: 22:20982429-20982429

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

72
# 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.Arg283Gln VAR_081307 rs122343027

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

Cellular components related to Noonan Syndrome 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 PGM5 MYOZ3

Sources for Noonan Syndrome 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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