MCID: NNN027
MIFTS: 21

Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal 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 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 and bone, and related phenotypes are cryptorchidism and high palate

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

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

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

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

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
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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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73 UMLS
74 UMLS via Orphanet
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