NSLH2
MCID: NNN027
MIFTS: 43

Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 (NSLH2)

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

MalaCards integrated aliases for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2:

Name: Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 57 12 72 29 6 15
Nslh2 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
noonan syndrome-like disorder with loose anagen hair 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

UniProtKB/Swiss-Prot : 72 Noonan syndrome-like disorder with loose anagen hair 2: A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair.

MalaCards based summary : Noonan Syndrome-Like Disorder with Loose Anagen Hair 2, also known as nslh2, is related to pseudo-turner syndrome and noonan syndrome-like disorder with loose anagen hair. An important gene associated with Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 is PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta), and among its related pathways/superpathways are Phospholipase-C Pathway and Circadian entrainment. Affiliated tissues include eye, heart and bone, and related phenotypes are ptosis and craniosynostosis

Disease Ontology : 12 A Noonan syndrome-like disorder with loose anagen hair that has material basis in heterozygous mutation in the PPP1CB gene on chromosome 2p23.

More information from OMIM: 617506 PS163950 PS607721

Related Diseases for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Diseases in the Noonan Syndrome-Like Disorder with Loose Anagen Hair family:

Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 pseudo-turner syndrome 28.8 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
2 noonan syndrome-like disorder with loose anagen hair 28.2 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
3 noonan syndrome 1 28.2 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
4 pylorospasm 9.9 SOS2 LZTR1 A2ML1
5 epilepsy, familial temporal lobe, 8 9.8 SOS2 SOS1
6 noonan syndrome-like disorder with loose anagen hair 1 9.7 SHOC2 PTPN11
7 noonan syndrome and noonan-related syndrome 9.7 SOS1 PTPN11
8 villonodular synovitis 9.7 SOS1 PTPN11
9 keratosis pilaris atrophicans faciei 9.5 SOS1 PTPN11 MAP2K1
10 heart septal defect 9.4 SOS1 SHOC2 PTPN11
11 noonan syndrome 3 9.4 SOS1 SHOC2 PTPN11
12 patent ductus arteriosus 1 9.4 SOS1 SHOC2 PTPN11
13 embryonal rhabdomyosarcoma 9.4 SOS1 PTPN11
14 neurofibromatosis, type i 9.4 SOS1 PTPN11 MAP2K1
15 cryptorchidism, unilateral or bilateral 9.4 SOS1 SHOC2 PTPN11
16 ptosis 9.3 SOS1 SHOC2 PTPN11
17 tetralogy of fallot 9.3 SOS1 PTPN11 LZTR1
18 juvenile myelomonocytic leukemia 9.3 SOS2 SOS1 PTPN11 LZTR1
19 atrial heart septal defect 9.2 SOS1 SHOC2 PTPN11 LZTR1
20 skin granular cell tumor 9.2 SOS1 SHOC2 PTPN11 MAP2K1
21 costello syndrome 8.7 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 LZTR1
22 hypertrophic cardiomyopathy 8.7 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 LZTR1
23 neurofibromatosis-noonan syndrome 8.6 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
24 pulmonary valve stenosis 8.6 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 LZTR1
25 pulmonary valve disease 8.5 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 LZTR1
26 noonan syndrome with multiple lentigines 8.5 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 LZTR1
27 rasopathy 8.4 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
28 cardiofaciocutaneous syndrome 1 8.3 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1

Graphical network of the top 20 diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2:



Diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Symptoms & Phenotypes for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Human phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 occasional (7.5%) HP:0000508
2 craniosynostosis 31 occasional (7.5%) HP:0001363
3 pectus excavatum 31 very rare (1%) HP:0000767
4 macrocephaly 31 HP:0000256
5 failure to thrive 31 HP:0001508
6 high palate 31 HP:0000218
7 short neck 31 HP:0000470
8 global developmental delay 31 HP:0001263
9 delayed skeletal maturation 31 HP:0002750
10 hypertelorism 31 HP:0000316
11 delayed speech and language development 31 HP:0000750
12 pectus carinatum 31 HP:0000768
13 short stature 31 HP:0004322
14 prominent forehead 31 HP:0011220
15 cryptorchidism 31 HP:0000028
16 low-set ears 31 HP:0000369
17 webbed neck 31 HP:0000465
18 broad neck 31 HP:0000475
19 coarctation of aorta 31 HP:0001680
20 mitral regurgitation 31 HP:0001653
21 joint hypermobility 31 HP:0001382
22 downslanted palpebral fissures 31 HP:0000494
23 overfolded helix 31 HP:0000396
24 patent ductus arteriosus 31 HP:0001643
25 dandy-walker malformation 31 HP:0001305
26 ventricular septal defect 31 HP:0001629
27 pulmonic stenosis 31 HP:0001642
28 peripheral pulmonary artery stenosis 31 HP:0004969
29 freckling 31 HP:0001480
30 thickened helices 31 HP:0000391
31 sparse hair 31 HP:0008070
32 slow-growing hair 31 HP:0002217
33 right bundle branch block 31 HP:0011712
34 posteriorly rotated ears 31 HP:0000358
35 cafe-au-lait spot 31 HP:0000957
36 generalized hypotonia 31 HP:0001290
37 thin skin 31 HP:0000963
38 optic nerve hypoplasia 31 HP:0000609
39 dermal translucency 31 HP:0010648
40 patent foramen ovale 31 HP:0001655
41 arnold-chiari type i malformation 31 HP:0007099

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
ptosis (in some patients)

Head And Neck Face:
prominent forehead

Head And Neck Ears:
low-set ears
thickened helices
posteriorly rotated ears
overfolded helices
preauricular ear pits

Skeletal Limbs:
joint hypermobility

Skin Nails Hair Hair:
sparse hair
slow-growing hair
unruly hair
loose hair

Head And Neck Mouth:
high-arched palate

Cardiovascular Vascular:
aortic coarctation
peripheral pulmonary stenosis
dilated aortic root
aortic dilation and tortuosity
hypoplastic left aortic arch
more
Skeletal Skull:
craniosynostosis (in 1 patient)

Head And Neck Neck:
short neck
webbed neck
broad neck

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect
right bundle branch block
patent foramen ovale
more
Skin Nails Hair Skin:
freckling
doughy skin
cafe-au-lait spots
translucent skin
irregular hypopigmentation on back
more
Neurologic Central Nervous System:
hypotonia
developmental delay
speech delay
optic nerve hypoplasia (in 1 patient)
dandy-walker malformation (in 1 patient)
more
Skeletal:
delayed bone age

Head And Neck Head:
craniosynostosis (rare)
macrocephaly, relative or absolute

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)
pectus carinatum (in 1 patient)

Clinical features from OMIM®:

617506 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 PPP1CB PTPN11 SHOC2 SOS1 SOS2

Drugs & Therapeutics for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Genetic Tests for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Genetic tests related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2:

# Genetic test Affiliating Genes
1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 29 PPP1CB

Anatomical Context for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

MalaCards organs/tissues related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2:

40
Eye, Heart, Bone, Skin, Temporal Lobe

Publications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Articles related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2:

# Title Authors PMID Year
1
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 6 57
28211982 2017
2
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 57 6
27868344 2017
3
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 57 6
27681385 2016
4
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 57 6
27264673 2016
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
6
De novo mutations in moderate or severe intellectual disability. 57
25356899 2014
7
A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone. 61
32476286 2020
8
Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications. 61
30236064 2018
9
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. 61
30240112 2018

Variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

ClinVar genetic disease variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP1CB NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val) SNV Pathogenic 254651 rs886037954 GRCh37: 2:29006800-29006800
GRCh38: 2:28783934-28783934
2 PPP1CB NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro) SNV Pathogenic 427633 rs1114167429 GRCh37: 2:28999830-28999830
GRCh38: 2:28776964-28776964
3 PPP1CB NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys) SNV Pathogenic 254653 rs886037955 GRCh37: 2:29016804-29016804
GRCh38: 2:28793938-28793938
4 PPP1CB NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala) SNV Pathogenic 254652 rs886037954 GRCh37: 2:29006800-29006800
GRCh38: 2:28783934-28783934
5 PPP1CB NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) SNV Pathogenic/Likely pathogenic 254648 rs886037952 GRCh37: 2:28999810-28999810
GRCh38: 2:28776944-28776944
6 PPP1CB NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys) SNV Likely pathogenic 974912 GRCh37: 2:29006797-29006797
GRCh38: 2:28783931-28783931

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2:

72
# Symbol AA change Variation ID SNP ID
1 PPP1CB p.Pro49Arg VAR_076839 rs886037952
2 PPP1CB p.Ala56Pro VAR_076840 rs111416742
3 PPP1CB p.Glu183Ala VAR_079189 rs886037954
4 PPP1CB p.Glu183Val VAR_079190 rs886037954
5 PPP1CB p.Asp252Tyr VAR_079191 rs886037953

Expression for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Search GEO for disease gene expression data for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2.

Pathways for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Pathways related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 SOS2 SOS1 PPP1CB MAP2K1
2
Show member pathways
12.91 SOS2 SOS1 PPP1CB MAP2K1
3
Show member pathways
12.89 SOS2 SOS1 PPP1CB MAP2K1
4
Show member pathways
12.8 SOS2 SOS1 PPP1CB MAP2K1
5
Show member pathways
12.71 SOS2 SOS1 MAP2K1
6
Show member pathways
12.71 SOS2 SOS1 PTPN11 MAP2K1
7
Show member pathways
12.69 SOS2 SOS1 PTPN11 MAP2K1
8
Show member pathways
12.69 SOS2 SOS1 PTPN11 PPP1CB MAP2K1
9
Show member pathways
12.63 SOS2 SOS1 PTPN11 MAP2K1
10
Show member pathways
12.59 SOS2 SOS1 PPP1CB MAP2K1
11 12.56 SOS2 SOS1 PPP1CB MAP2K1
12
Show member pathways
12.53 SOS2 SOS1 PTPN11 MAP2K1
13
Show member pathways
12.52 SOS2 SOS1 SHOC2 PTPN11 MAP2K1
14
Show member pathways
12.51 SOS2 SOS1 PTPN11 MAP2K1
15
Show member pathways
12.5 SOS2 SOS1 PTPN11 MAP2K1
16
Show member pathways
12.5 SOS2 SOS1 PPP1CB MAP2K1
17
Show member pathways
12.48 SOS2 SOS1 PTPN11
18
Show member pathways
12.48 SOS2 SOS1 MAP2K1
19
Show member pathways
12.48 SOS2 SOS1 MAP2K1
20
Show member pathways
12.45 SOS2 SOS1 PTPN11 MAP2K1
21
Show member pathways
12.44 SOS2 SOS1 PTPN11 MAP2K1
22 12.43 SOS2 SOS1 MAP2K1
23
Show member pathways
12.4 SOS2 SOS1 MAP2K1
24
Show member pathways
12.4 SOS2 SOS1 MAP2K1
25
Show member pathways
12.4 SOS2 SOS1 PTPN11 MAP2K1
26
Show member pathways
12.37 SOS2 SOS1 PTPN11 MAP2K1
27
Show member pathways
12.32 SOS2 SOS1 PTPN11
28
Show member pathways
12.31 SOS2 SOS1 MAP2K1
29
Show member pathways
12.31 SOS2 SOS1 PTPN11 MAP2K1
30
Show member pathways
12.3 SOS2 SOS1 PTPN11 MAP2K1
31
Show member pathways
12.29 SOS2 SOS1 PTPN11 MAP2K1
32
Show member pathways
12.28 SOS2 SOS1 PTPN11 MAP2K1
33
Show member pathways
12.28 SOS2 SOS1 PTPN11 MAP2K1
34
Show member pathways
12.27 SOS2 SOS1 MAP2K1
35
Show member pathways
12.25 SOS2 SOS1 MAP2K1
36
Show member pathways
12.24 SOS2 SOS1 MAP2K1
37
Show member pathways
12.23 SOS2 SOS1 MAP2K1
38
Show member pathways
12.22 SOS2 SOS1 PTPN11 MAP2K1
39
Show member pathways
12.21 SOS2 SOS1 PPP1CB MAP2K1
40
Show member pathways
12.17 SOS2 SOS1 MAP2K1
41
Show member pathways
12.16 SOS2 SOS1 MAP2K1
42
Show member pathways
12.16 SOS2 SOS1 PTPN11 MAP2K1
43
Show member pathways
12.13 SOS2 SOS1 MAP2K1
44
Show member pathways
12.13 SOS2 SOS1 PPP1CB MAP2K1
45 12.12 SOS2 SOS1 MAP2K1
46 12.11 SOS2 SOS1 MAP2K1
47
Show member pathways
12.11 SOS2 SOS1 MAP2K1
48
Show member pathways
12.11 SOS1 PTPN11 MAP2K1
49
Show member pathways
12.08 SOS2 SOS1 MAP2K1
50 12.03 SOS2 SOS1 MAP2K1

GO Terms for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Cellular components related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphatase type 1 complex GO:0000164 8.62 SHOC2 PPP1CB

Biological processes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermal growth factor receptor signaling pathway GO:0007173 9.48 SOS1 PTPN11
2 B cell homeostasis GO:0001782 9.46 SOS2 SOS1
3 neurotrophin TRK receptor signaling pathway GO:0048011 9.43 SOS1 PTPN11
4 regulation of T cell proliferation GO:0042129 9.4 SOS2 SOS1
5 Bergmann glial cell differentiation GO:0060020 9.37 PTPN11 MAP2K1
6 lymphocyte homeostasis GO:0002260 9.32 SOS2 SOS1
7 positive regulation of small GTPase mediated signal transduction GO:0051057 9.26 SOS2 SOS1
8 regulation of T cell differentiation in thymus GO:0033081 9.16 SOS2 SOS1
9 regulation of pro-B cell differentiation GO:2000973 8.96 SOS2 SOS1
10 cerebellar cortex formation GO:0021697 8.62 PTPN11 MAP2K1

Sources for Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

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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