NSLH1
MCID: NNN028
MIFTS: 35

Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 (NSLH1)

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 1

MalaCards integrated aliases for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

Name: Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 57 75 29 6
Noonan-Like Syndrome with Loose Anagen Hair 57 53 37 13 40
Noonan Syndrome-Like Disorder with Loose Anagen Hair 59 29 73
Tosti Syndrome 57 59 75
Nslh1 57 75
Nslh 57 75
Ns/lah 59

Characteristics:

Orphanet epidemiological data:

59
noonan syndrome-like disorder with loose anagen hair
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
noonan syndrome-like disorder with loose anagen hair 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

OMIM : 57 Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). (607721)

MalaCards based summary : Noonan Syndrome-Like Disorder with Loose Anagen Hair 1, also known as noonan-like syndrome with loose anagen hair, is related to noonan syndrome-like disorder with loose anagen hair 2 and systemic lupus erythematosus. An important gene associated with Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 is SHOC2 (SHOC2, Leucine Rich Repeat Scaffold Protein), and among its related pathways/superpathways is Platelet activation. Affiliated tissues include skin, eye and heart, and related phenotypes are hypertelorism and pectus excavatum

NIH Rare Diseases : 53 Noonan-like syndrome with loose anagen hair is characterized  by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.   

UniProtKB/Swiss-Prot : 75 Noonan syndrome-like disorder with loose anagen hair 1: 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.

Related Diseases for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

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

Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with loose anagen hair 2 13.0
2 systemic lupus erythematosus 10.4
3 noonan syndrome 1 10.4
4 lupus erythematosus 10.4
5 pseudo-turner syndrome 10.4
6 neuroblastoma 10.4
7 moyamoya disease 1 10.4
8 aortic coarctation 10.4
9 growth hormone deficiency 10.4

Graphical network of the top 20 diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:



Diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Symptoms & Phenotypes for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Height:
short stature

Cardiovascular Heart:
hypertrophic cardiomyopathy
atrial septal defect
ventricular septal defect
pulmonic stenosis
mitral/tricuspid valve dysplasia

Skin Nails Hair Hair:
sparse scalp hair
absent scalp hair
loose anagen hair

Neurologic Central Nervous System:
mental retardation
thin corpus callosum (in some patients)
hypotonia (in some patients)
decreased white matter volume (in some patients)
vertical tentorium (in some patients)
more
Growth Weight:
increased birth weight (in some patients)

Skeletal:
ligamentous laxity (in some patients)

Voice:
hypernasal voice (in some patients)

Head And Neck Eyes:
hypertelorism
strabismus
long eyelashes (in some patients)

Head And Neck Neck:
short neck
webbed neck

Head And Neck Face:
prominent forehead

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomalies

Skin Nails Hair Skin:
darkly pigmented skin
eczema (in some patients)
keratosis pilaris (in some patients)
ichthyosis (in some patients)
increased fine wrinkles (in some patients)
more
Endocrine Features:
low or absent growth hormone (in some patients)


Clinical features from OMIM:

607721

Human phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
3 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
7 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
8 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
9 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
10 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
13 thick lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000179
14 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
15 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
16 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
17 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
18 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
19 abnormality of the fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001231
20 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
21 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
22 deep philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0002002
23 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
24 pulmonic stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001642
25 abnormality of the elbow 59 32 occasional (7.5%) Occasional (29-5%) HP:0009811
26 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
27 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
28 abnormality of the intervertebral disk 59 32 occasional (7.5%) Occasional (29-5%) HP:0005108
29 macrocephaly 32 HP:0000256
30 low-set ears 32 HP:0000369
31 short neck 32 HP:0000470
32 ichthyosis 32 occasional (7.5%) HP:0008064
33 prominent forehead 32 HP:0011220
34 feeding difficulties 32 occasional (7.5%) HP:0011968
35 strabismus 32 HP:0000486
36 atrial septal defect 32 HP:0001631
37 joint laxity 32 occasional (7.5%) HP:0001388
38 polyhydramnios 32 HP:0001561
39 nasal speech 32 occasional (7.5%) HP:0001611
40 ventricular septal defect 32 HP:0001629
41 eczema 32 occasional (7.5%) HP:0000964
42 abnormality of the palate 59 Occasional (29-5%)
43 long eyelashes 32 occasional (7.5%) HP:0000527
44 generalized hypotonia 32 occasional (7.5%) HP:0001290
45 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
46 hyperactivity 32 HP:0000752
47 deep palmar crease 32 occasional (7.5%) HP:0006191
48 posteriorly rotated ears 32 HP:0000358
49 loose anagen hair 32 HP:0040169
50 abnormal palate morphology 32 occasional (7.5%) HP:0000174

Drugs & Therapeutics for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Genetic Tests for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Genetic tests related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

# Genetic test Affiliating Genes
1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 29 SHOC2
2 Noonan Syndrome-Like Disorder with Loose Anagen Hair 29 SHOC2

Anatomical Context for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

MalaCards organs/tissues related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

41
Skin, Eye, Heart

Publications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Articles related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

(show all 11)
# Title Authors Year
1
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. ( 30240112 )
2018
2
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. ( 29737035 )
2018
3
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. ( 25563136 )
2015
4
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy. ( 26096762 )
2015
5
Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair. ( 25858597 )
2015
6
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. ( 24458596 )
2014
7
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). ( 24124081 )
2013
8
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. ( 22419608 )
2012
9
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. ( 22253195 )
2012
10
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. ( 19684605 )
2009
11
Noonan-like syndrome with loose anagen hair: a new syndrome? ( 12673660 )
2003

Variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

75
# Symbol AA change Variation ID SNP ID
1 SHOC2 p.Ser2Gly VAR_060199 rs267607048
2 SHOC2 p.Met173Ile VAR_074030 rs730881020

ClinVar genetic disease variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh37 Chromosome 10, 112724120: 112724120
2 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh38 Chromosome 10, 110964362: 110964362
3 SHOC2 NM_007373.3(SHOC2): c.-159T> C single nucleotide variant Benign/Likely benign rs72819758 GRCh37 Chromosome 10, 112723958: 112723958
4 SHOC2 NM_007373.3(SHOC2): c.-159T> C single nucleotide variant Benign/Likely benign rs72819758 GRCh38 Chromosome 10, 110964200: 110964200
5 SHOC2 NM_007373.3(SHOC2): c.1161+9A> G single nucleotide variant Benign/Likely benign rs201795589 GRCh37 Chromosome 10, 112764561: 112764561
6 SHOC2 NM_007373.3(SHOC2): c.1161+9A> G single nucleotide variant Benign/Likely benign rs201795589 GRCh38 Chromosome 10, 111004803: 111004803
7 SHOC2 NM_007373.3(SHOC2): c.457C> T (p.Leu153=) single nucleotide variant Benign rs34081996 GRCh37 Chromosome 10, 112724573: 112724573
8 SHOC2 NM_007373.3(SHOC2): c.457C> T (p.Leu153=) single nucleotide variant Benign rs34081996 GRCh38 Chromosome 10, 110964815: 110964815
9 SHOC2 NM_007373.3(SHOC2): c.841+12G> A single nucleotide variant Benign/Likely benign rs201258692 GRCh37 Chromosome 10, 112745535: 112745535
10 SHOC2 NM_007373.3(SHOC2): c.841+12G> A single nucleotide variant Benign/Likely benign rs201258692 GRCh38 Chromosome 10, 110985777: 110985777
11 SHOC2 NM_007373.3(SHOC2): c.1423-7C> T single nucleotide variant Benign rs180671383 GRCh37 Chromosome 10, 112769464: 112769464
12 SHOC2 NM_007373.3(SHOC2): c.1423-7C> T single nucleotide variant Benign rs180671383 GRCh38 Chromosome 10, 111009706: 111009706
13 SHOC2 NM_007373.3(SHOC2): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign rs145463534 GRCh37 Chromosome 10, 112771421: 112771421
14 SHOC2 NM_007373.3(SHOC2): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign rs145463534 GRCh38 Chromosome 10, 111011663: 111011663
15 SHOC2 NM_007373.3(SHOC2): c.-179T> A single nucleotide variant Likely benign rs143180451 GRCh37 Chromosome 10, 112723938: 112723938
16 SHOC2 NM_007373.3(SHOC2): c.-179T> A single nucleotide variant Likely benign rs143180451 GRCh38 Chromosome 10, 110964180: 110964180
17 SHOC2 NM_007373.3(SHOC2): c.519G> A (p.Met173Ile) single nucleotide variant Uncertain significance rs730881020 GRCh37 Chromosome 10, 112724635: 112724635
18 SHOC2 NM_007373.3(SHOC2): c.519G> A (p.Met173Ile) single nucleotide variant Uncertain significance rs730881020 GRCh38 Chromosome 10, 110964877: 110964877
19 SHOC2 NM_007373.3(SHOC2): c.973-5delT deletion Benign/Likely benign rs730881016 GRCh37 Chromosome 10, 112764359: 112764359
20 SHOC2 NM_007373.3(SHOC2): c.973-5delT deletion Benign/Likely benign rs730881016 GRCh38 Chromosome 10, 111004601: 111004601
21 SHOC2 NM_007373.3(SHOC2): c.*3T> C single nucleotide variant Benign/Likely benign rs143187497 GRCh37 Chromosome 10, 112771579: 112771579
22 SHOC2 NM_007373.3(SHOC2): c.*3T> C single nucleotide variant Benign/Likely benign rs143187497 GRCh38 Chromosome 10, 111011821: 111011821
23 SHOC2 NM_007373.3(SHOC2): c.1239G> T (p.Gln413His) single nucleotide variant Uncertain significance rs200215822 GRCh37 Chromosome 10, 112767366: 112767366
24 SHOC2 NM_007373.3(SHOC2): c.1239G> T (p.Gln413His) single nucleotide variant Uncertain significance rs200215822 GRCh38 Chromosome 10, 111007608: 111007608
25 SHOC2 NM_007373.3(SHOC2): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200015085 GRCh37 Chromosome 10, 112724726: 112724726
26 SHOC2 NM_007373.3(SHOC2): c.610A> G (p.Ile204Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200015085 GRCh38 Chromosome 10, 110964968: 110964968
27 SHOC2 NM_007373.3(SHOC2): c.*518T> C single nucleotide variant Uncertain significance rs886046731 GRCh38 Chromosome 10, 111012336: 111012336
28 SHOC2 NM_007373.3(SHOC2): c.*518T> C single nucleotide variant Uncertain significance rs886046731 GRCh37 Chromosome 10, 112772094: 112772094
29 SHOC2 NM_007373.3(SHOC2): c.*697C> T single nucleotide variant Likely benign rs189140753 GRCh38 Chromosome 10, 111012515: 111012515
30 SHOC2 NM_007373.3(SHOC2): c.*697C> T single nucleotide variant Likely benign rs189140753 GRCh37 Chromosome 10, 112772273: 112772273
31 SHOC2 NM_007373.3(SHOC2): c.*773G> A single nucleotide variant Likely benign rs114628508 GRCh38 Chromosome 10, 111012591: 111012591
32 SHOC2 NM_007373.3(SHOC2): c.*773G> A single nucleotide variant Likely benign rs114628508 GRCh37 Chromosome 10, 112772349: 112772349
33 SHOC2 NM_007373.3(SHOC2): c.*1218C> T single nucleotide variant Uncertain significance rs886046735 GRCh38 Chromosome 10, 111013036: 111013036
34 SHOC2 NM_007373.3(SHOC2): c.*1218C> T single nucleotide variant Uncertain significance rs886046735 GRCh37 Chromosome 10, 112772794: 112772794
35 SHOC2 NM_007373.3(SHOC2): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs751292868 GRCh37 Chromosome 10, 112724817: 112724817
36 SHOC2 NM_007373.3(SHOC2): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs751292868 GRCh38 Chromosome 10, 110965059: 110965059
37 SHOC2 NM_007373.3(SHOC2): c.1284+15G> A single nucleotide variant Uncertain significance rs770745229 GRCh37 Chromosome 10, 112767426: 112767426
38 SHOC2 NM_007373.3(SHOC2): c.1284+15G> A single nucleotide variant Uncertain significance rs770745229 GRCh38 Chromosome 10, 111007668: 111007668
39 SHOC2 NM_007373.3(SHOC2): c.1422+9_1422+11delTAT deletion Uncertain significance rs886046730 GRCh37 Chromosome 10, 112769152: 112769154
40 SHOC2 NM_007373.3(SHOC2): c.1422+9_1422+11delTAT deletion Uncertain significance rs886046730 GRCh38 Chromosome 10, 111009394: 111009396
41 SHOC2 NM_007373.3(SHOC2): c.*404A> G single nucleotide variant Uncertain significance rs539394184 GRCh38 Chromosome 10, 111012222: 111012222
42 SHOC2 NM_007373.3(SHOC2): c.*404A> G single nucleotide variant Uncertain significance rs539394184 GRCh37 Chromosome 10, 112771980: 112771980
43 SHOC2 NM_007373.3(SHOC2): c.*506_*509delTTTT deletion Likely benign rs371679867 GRCh38 Chromosome 10, 111012324: 111012327
44 SHOC2 NM_007373.3(SHOC2): c.*506_*509delTTTT deletion Likely benign rs371679867 GRCh37 Chromosome 10, 112772082: 112772085
45 SHOC2 NM_007373.3(SHOC2): c.*614T> G single nucleotide variant Uncertain significance rs886046732 GRCh38 Chromosome 10, 111012432: 111012432
46 SHOC2 NM_007373.3(SHOC2): c.*614T> G single nucleotide variant Uncertain significance rs886046732 GRCh37 Chromosome 10, 112772190: 112772190
47 SHOC2 NM_007373.3(SHOC2): c.*914G> A single nucleotide variant Likely benign rs189223963 GRCh38 Chromosome 10, 111012732: 111012732
48 SHOC2 NM_007373.3(SHOC2): c.*914G> A single nucleotide variant Likely benign rs189223963 GRCh37 Chromosome 10, 112772490: 112772490
49 SHOC2 NM_007373.3(SHOC2): c.*1106A> C single nucleotide variant Likely benign rs118172559 GRCh38 Chromosome 10, 111012924: 111012924
50 SHOC2 NM_007373.3(SHOC2): c.*1106A> C single nucleotide variant Likely benign rs118172559 GRCh37 Chromosome 10, 112772682: 112772682

Expression for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Search GEO for disease gene expression data for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1.

Pathways for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Pathways related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to KEGG:

37
# Name Kegg Source Accession
1 Platelet activation hsa04611

GO Terms for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Sources for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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