NS13
MCID: NNN036
MIFTS: 24

Noonan Syndrome 13 (NS13)

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 13

Summaries for Noonan Syndrome 13

OMIM® : 57 Noonan syndrome-13 (NS13) is a neurodevelopmental disorder characterized by developmental delay and impaired intellectual development of variable severity, associated with behavioral problems. Affected individuals also exhibit reduced postnatal growth and craniofacial anomalies, including ptosis, hypertelorism, low-set posteriorly rotated ears, and short webbed neck. Other features include congenital heart defects and mild skeletal defects (Motta et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (619087) (Updated 05-Mar-2021)

MalaCards based summary : Noonan Syndrome 13, is also known as ns13. An important gene associated with Noonan Syndrome 13 is MAPK1 (Mitogen-Activated Protein Kinase 1). Related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has material basis in heterozygous mutation in MAPK1 on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.

Related Diseases for Noonan Syndrome 13

Symptoms & Phenotypes for Noonan Syndrome 13

Human phenotypes related to Noonan Syndrome 13:

31 (show top 50) (show all 66)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 scoliosis 31 very rare (1%) HP:0002650
3 ptosis 31 very rare (1%) HP:0000508
4 high palate 31 very rare (1%) HP:0000218
5 short neck 31 very rare (1%) HP:0000470
6 coarse facial features 31 very rare (1%) HP:0000280
7 global developmental delay 31 very rare (1%) HP:0001263
8 hypertelorism 31 very rare (1%) HP:0000316
9 widely spaced teeth 31 very rare (1%) HP:0000687
10 wide nasal bridge 31 very rare (1%) HP:0000431
11 delayed speech and language development 31 very rare (1%) HP:0000750
12 pes planus 31 very rare (1%) HP:0001763
13 microcephaly 31 very rare (1%) HP:0000252
14 anteverted nares 31 very rare (1%) HP:0000463
15 gastroesophageal reflux 31 very rare (1%) HP:0002020
16 microdontia 31 very rare (1%) HP:0000691
17 lymphedema 31 very rare (1%) HP:0001004
18 metatarsus adductus 31 very rare (1%) HP:0001840
19 enlarged thorax 31 very rare (1%) HP:0100625
20 cryptorchidism 31 very rare (1%) HP:0000028
21 dry skin 31 very rare (1%) HP:0000958
22 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
23 cubitus valgus 31 very rare (1%) HP:0002967
24 micrognathia 31 very rare (1%) HP:0000347
25 recurrent otitis media 31 very rare (1%) HP:0000403
26 webbed neck 31 very rare (1%) HP:0000465
27 anxiety 31 very rare (1%) HP:0000739
28 low posterior hairline 31 very rare (1%) HP:0002162
29 epicanthus 31 very rare (1%) HP:0000286
30 atrial septal defect 31 very rare (1%) HP:0001631
31 joint laxity 31 very rare (1%) HP:0001388
32 mitral valve prolapse 31 very rare (1%) HP:0001634
33 mitral regurgitation 31 very rare (1%) HP:0001653
34 wide mouth 31 very rare (1%) HP:0000154
35 blue irides 31 very rare (1%) HP:0000635
36 downslanted palpebral fissures 31 very rare (1%) HP:0000494
37 low-set, posteriorly rotated ears 31 very rare (1%) HP:0000368
38 highly arched eyebrow 31 very rare (1%) HP:0002553
39 long philtrum 31 very rare (1%) HP:0000343
40 generalized hirsutism 31 very rare (1%) HP:0002230
41 pointed chin 31 very rare (1%) HP:0000307
42 high forehead 31 very rare (1%) HP:0000348
43 hoarse voice 31 very rare (1%) HP:0001609
44 bruising susceptibility 31 very rare (1%) HP:0000978
45 multiple lentigines 31 very rare (1%) HP:0001003
46 lower limb asymmetry 31 very rare (1%) HP:0100559
47 tapered finger 31 very rare (1%) HP:0001182
48 plagiocephaly 31 very rare (1%) HP:0001357
49 prominent metopic ridge 31 very rare (1%) HP:0005487
50 infantile spasms 31 very rare (1%) HP:0012469

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
hypotonia
developmental delay
speech delay
more
Head And Neck Teeth:
widely spaced teeth
small teeth
crowded teeth
fusion of 2 teeth

Skeletal Feet:
pes planus

Skeletal Limbs:
cubitus valgus

Neurologic Behavioral Psychiatric Manifestations:
anxiety
aggressive behavior
autism spectrum disorder
attention-deficit/hyperactivity disorder
reduced stress tolerance
more
Cardiovascular Heart:
atrial septal defect
mitral valve prolapse
patent foramen ovale
mitral valve insufficiency

Head And Neck Face:
long philtrum
deep philtrum
broad forehead
high forehead
bitemporal narrowing

Skin Nails Hair Skin:
multiple lentigines
cafe-au-lait spots
hypochromic spots

Chest Breasts:
widely spaced nipples

Chest External Features:
broad thorax

Growth Other:
postnatal reduced growth

Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures
epicanthal folds
short palpebral fissures

Head And Neck Nose:
wide nasal bridge

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
posteriorly rotated ears
prominent antitragus
earlobes with central depression

Head And Neck Head:
low posterior hairline

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
hypertrichosis

Head And Neck Mouth:
everted lower lip
marked upper lip vermilion

Head And Neck Neck:
short webbed neck

Clinical features from OMIM®:

619087 (Updated 05-Mar-2021)

Drugs & Therapeutics for Noonan Syndrome 13

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 13

Genetic Tests for Noonan Syndrome 13

Anatomical Context for Noonan Syndrome 13

Publications for Noonan Syndrome 13

Articles related to Noonan Syndrome 13:

# Title Authors PMID Year
1
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. 6 57
32721402 2020
2
Ni-Nitrilotriacetic Acid Affinity SELEX Method for Selection of DNA Aptamers Specific to the N-Cadherin Protein. 61
33146506 2020
3
Description of Oxalicibacterium horti sp. nov. and Oxalicibacterium faecigallinarum sp. nov., new aerobic, yellow-pigmented, oxalotrophic bacteria. 61
19459944 2009
4
Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. 61
11167926 2001

Variations for Noonan Syndrome 13

ClinVar genetic disease variations for Noonan Syndrome 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPK1 NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn) SNV Pathogenic 917742 22:22162034-22162034 22:21807745-21807745
2 MAPK1 NM_002745.5(MAPK1):c.521C>T (p.Ala174Val) SNV Pathogenic 917744 22:22153389-22153389 22:21799100-21799100
3 MAPK1 NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn) SNV Pathogenic 917745 22:22127176-22127176 22:21772887-21772887
4 MAPK1 NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly) SNV Pathogenic 917746 22:22127175-22127175 22:21772886-21772886

Expression for Noonan Syndrome 13

Search GEO for disease gene expression data for Noonan Syndrome 13.

Pathways for Noonan Syndrome 13

GO Terms for Noonan Syndrome 13

Sources for Noonan Syndrome 13

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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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