NSLH2
MCID: NNN027
MIFTS: 23

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 57 75 29 6
Nslh2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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 : 75 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 macrocephaly and hypertelorism

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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:

41
Skin, Bone, Eye

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

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:

75
# 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 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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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