NSLH2
MCID: NNN027
MIFTS: 24

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

Categories: Cardiovascular diseases, Ear diseases, Endocrine 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 58 76 30 6
Nslh2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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 : 76 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, is also known as nslh2. An important gene associated with Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 is PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta). Affiliated tissues include skin, bone and eye, and related phenotypes are ptosis and craniosynostosis

Description from OMIM: 617506

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

Diseases in the Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 family:

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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
ptosis (in some patients)

Head And Neck Neck:
short neck
webbed neck
broad neck

Growth Height:
short stature

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
ventricular septal defect
right bundle branch block
patent foramen ovale
more
Skeletal Limbs:
joint hypermobility

Skin Nails Hair Skin:
freckling
doughy skin
cafe-au-lait spots
translucent skin
irregular hypopigmentation on back
more
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 Ears:
low-set ears
thickened helices
posteriorly rotated ears
overfolded helices
preauricular ear pits

Growth Other:
failure to thrive

Head And Neck Face:
prominent forehead

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Neurologic Central Nervous System:
developmental delay
hypotonia
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

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 30 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:

42
Skin, Bone, Eye

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 Year
1
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. ( 27868344 )
2017
2
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. ( 28211982 )
2017
3
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. ( 27264673 )
2016
4
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. ( 27681385 )
2016

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

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP1CB NM_206876.1(PPP1CB): c.146C> G (p.Pro49Arg) single nucleotide variant Pathogenic rs886037952 GRCh37 Chromosome 2, 28999810: 28999810
2 PPP1CB NM_206876.1(PPP1CB): c.146C> G (p.Pro49Arg) single nucleotide variant Pathogenic rs886037952 GRCh38 Chromosome 2, 28776944: 28776944
3 PPP1CB NM_206876.1(PPP1CB): c.548A> C (p.Glu183Ala) single nucleotide variant Pathogenic rs886037954 GRCh37 Chromosome 2, 29006800: 29006800
4 PPP1CB NM_206876.1(PPP1CB): c.548A> C (p.Glu183Ala) single nucleotide variant Pathogenic rs886037954 GRCh38 Chromosome 2, 28783934: 28783934
5 PPP1CB NM_206876.1(PPP1CB): c.548A> T (p.Glu183Val) single nucleotide variant Pathogenic rs886037954 GRCh37 Chromosome 2, 29006800: 29006800
6 PPP1CB NM_206876.1(PPP1CB): c.548A> T (p.Glu183Val) single nucleotide variant Pathogenic rs886037954 GRCh38 Chromosome 2, 28783934: 28783934
7 PPP1CB NM_206876.1(PPP1CB): c.820G> A (p.Glu274Lys) single nucleotide variant Likely pathogenic rs886037955 GRCh37 Chromosome 2, 29016804: 29016804
8 PPP1CB NM_206876.1(PPP1CB): c.820G> A (p.Glu274Lys) single nucleotide variant Likely pathogenic rs886037955 GRCh38 Chromosome 2, 28793938: 28793938
9 PPP1CB NM_206876.1(PPP1CB): c.166G> C (p.Ala56Pro) single nucleotide variant Pathogenic rs1114167429 GRCh38 Chromosome 2, 28776964: 28776964
10 PPP1CB NM_206876.1(PPP1CB): c.166G> C (p.Ala56Pro) single nucleotide variant Pathogenic rs1114167429 GRCh37 Chromosome 2, 28999830: 28999830

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

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....