NS5
MCID: NNN012
MIFTS: 36

Noonan Syndrome 5 (NS5)

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 5

MalaCards integrated aliases for Noonan Syndrome 5:

Name: Noonan Syndrome 5 57 12 53 74 29 13 6 15 72
Ns5 57 12 53 74
Raf1 Gene Related Noonan Syndrome 53
Noonan Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


HPO:

32
noonan syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060583
MeSH 44 D009634
ICD10 33 Q87.1
MedGen 42 C1969057
UMLS 72 C1969057

Summaries for Noonan Syndrome 5

UniProtKB/Swiss-Prot : 74 Noonan syndrome 5: 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 5, also known as ns5, is related to dengue virus and encephalitis. An important gene associated with Noonan Syndrome 5 is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Toll Comparative Pathway and Development VEGF signaling via VEGFR2 - generic cascades. Affiliated tissues include heart and skin, and related phenotypes are intellectual disability and depressed nasal bridge

Disease Ontology : 12 A Noonan syndrome that has material basis in mutation in the RAF1 gene.

More information from OMIM: 611553 PS163950

Related Diseases for Noonan Syndrome 5

Graphical network of the top 20 diseases related to Noonan Syndrome 5:



Diseases related to Noonan Syndrome 5

Symptoms & Phenotypes for Noonan Syndrome 5

Human phenotypes related to Noonan Syndrome 5:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 very rare (1%) HP:0001249
2 depressed nasal bridge 32 very rare (1%) HP:0005280
3 thick vermilion border 32 very rare (1%) HP:0012471
4 short stature 32 very rare (1%) HP:0004322
5 hypertrophic cardiomyopathy 32 very rare (1%) HP:0001639
6 cryptorchidism 32 very rare (1%) HP:0000028
7 webbed neck 32 very rare (1%) HP:0000465
8 atrial septal defect 32 very rare (1%) HP:0001631
9 nevus 32 very rare (1%) HP:0003764
10 polyhydramnios 32 very rare (1%) HP:0001561
11 pulmonic stenosis 32 very rare (1%) HP:0001642
12 curly hair 32 very rare (1%) HP:0002212
13 macrocephaly 32 HP:0000256
14 hypertelorism 32 HP:0000316
15 low-set ears 32 HP:0000369
16 short neck 32 HP:0000470
17 ptosis 32 HP:0000508
18 mandibular prognathia 32 HP:0000303
19 global developmental delay 32 HP:0001263
20 abnormal facial shape 32 HP:0001999
21 prominent forehead 32 HP:0011220
22 arrhythmia 32 HP:0011675
23 epicanthus 32 HP:0000286
24 cubitus valgus 32 HP:0002967
25 wide mouth 32 HP:0000154
26 downslanted palpebral fissures 32 HP:0000494
27 abnormality of the sternum 32 HP:0000766

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
dolicocephaly (in some patients)

Head And Neck Ears:
low-set ears
thickened helix
large thick ear lobe (in some patients)

Growth Height:
short stature

Skeletal Limbs:
cubitus valgus

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)
pulmonary valve stenosis (in some patients)
arrhythmia, variable

Skin Nails Hair Skin:
nevi (in some patients)

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

Head And Neck Neck:
short neck
webbed neck

Head And Neck Face:
prominent forehead
prominent chin

Neurologic Central Nervous System:
mental retardation (in some patients)
developmental delay ( in some patients)

Head And Neck Nose:
flat nasal bridge (in some patients)

Head And Neck Mouth:
macrostomia (uncommon)
thick lips (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomaly

Skin Nails Hair Hair:
curly hair (in some patients)

Clinical features from OMIM:

611553

Drugs & Therapeutics for Noonan Syndrome 5

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 5

Genetic Tests for Noonan Syndrome 5

Genetic tests related to Noonan Syndrome 5:

# Genetic test Affiliating Genes
1 Noonan Syndrome 5 29 RAF1

Anatomical Context for Noonan Syndrome 5

MalaCards organs/tissues related to Noonan Syndrome 5:

41
Heart, Skin

Publications for Noonan Syndrome 5

Articles related to Noonan Syndrome 5:

# Title Authors PMID Year
1
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 8 71
17603482 2007
2
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 8 71
17603483 2007
3
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 71
25173338 2014
4
Noonan syndrome: clinical features, diagnosis, and management guidelines. 71
20876176 2010
5
Leopard syndrome. 71
18505544 2008
6
Noonan Syndrome 71
20301303 2001
7
Congenital chylothorax: a prospective nationwide epidemiological study in Germany. 38
25480460 2015

Variations for Noonan Syndrome 5

ClinVar genetic disease variations for Noonan Syndrome 5:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 3:12645699-12645699 3:12604200-12604200
2 RAF1 NM_002880.3(RAF1): c.781C> T (p.Pro261Ser) single nucleotide variant Pathogenic rs121434594 3:12645688-12645688 3:12604189-12604189
3 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 3:12626123-12626123 3:12584624-12584624
4 RAF1 NM_002880.3(RAF1): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs397516828 3:12645687-12645687 3:12604188-12604188
5 RAF1 NM_002880.3(RAF1): c.505G> C (p.Gly169Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886039607 3:12650341-12650341 3:12608842-12608842
6 RAF1 NM_002880.3(RAF1): c.781C> G (p.Pro261Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121434594 3:12645688-12645688 3:12604189-12604189
7 RAF1 NM_002880.3(RAF1): c.782C> G (p.Pro261Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397516828 3:12645687-12645687 3:12604188-12604188
8 RAF1 NM_002880.3(RAF1): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397516830 3:12645681-12645681 3:12604182-12604182
9 RAF1 NM_002880.3(RAF1): c.1472C> G (p.Thr491Arg) single nucleotide variant Likely pathogenic rs80338799 3:12627244-12627244 3:12585745-12585745
10 RAF1 NM_002880.3(RAF1): c.601A> G (p.Ile201Val) single nucleotide variant Uncertain significance rs757700986 3:12647779-12647779 3:12606280-12606280
11 RAF1 NM_002880.3(RAF1): c.1467G> C (p.Leu489Phe) single nucleotide variant Uncertain significance 3:12627249-12627249 3:12585750-12585750
12 RAF1 NM_002880.3(RAF1): c.1814C> T (p.Ser605Phe) single nucleotide variant Uncertain significance rs730881004 3:12626146-12626146 3:12584647-12584647

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 5:

74 (show all 14)
# Symbol AA change Variation ID SNP ID
1 RAF1 p.Arg256Ser VAR_037807 rs397516826
2 RAF1 p.Ser257Leu VAR_037808 rs80338796
3 RAF1 p.Ser259Phe VAR_037809 rs397516827
4 RAF1 p.Thr260Arg VAR_037811
5 RAF1 p.Pro261Ala VAR_037812 rs121434594
6 RAF1 p.Pro261Leu VAR_037813 rs397516828
7 RAF1 p.Pro261Ser VAR_037814 rs121434594
8 RAF1 p.Val263Ala VAR_037815 rs397516830
9 RAF1 p.Asp486Gly VAR_037816 rs397516815
10 RAF1 p.Asp486Asn VAR_037817 rs80338798
11 RAF1 p.Thr491Ile VAR_037818 rs80338799
12 RAF1 p.Thr491Arg VAR_037819 rs80338799
13 RAF1 p.Ser612Thr VAR_037820 rs144839246
14 RAF1 p.Leu613Val VAR_037821 rs80338797

Expression for Noonan Syndrome 5

Search GEO for disease gene expression data for Noonan Syndrome 5.

Pathways for Noonan Syndrome 5

GO Terms for Noonan Syndrome 5

Biological processes related to Noonan Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 8.62 TRIT1 FARS2

Molecular functions related to Noonan Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 8.92 TRIT1 RAF1 FARS2 EIF4A2

Sources for Noonan Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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