MCID: NNN037
MIFTS: 50

Noonan Syndrome-Like Disorder with Loose Anagen Hair

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

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

Name: Noonan Syndrome-Like Disorder with Loose Anagen Hair 12 58 29 6 15
Noonan-Like Syndrome with Loose Anagen Hair 20 36 39
Mazzanti Syndrome 58
Ns/lah 58

Characteristics:

Orphanet epidemiological data:

58
noonan syndrome-like disorder with loose anagen hair
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare cardiac malformations
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Noonan Syndrome-Like Disorder with Loose Anagen Hair

GARD : 20 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.

MalaCards based summary : Noonan Syndrome-Like Disorder with Loose Anagen Hair, also known as noonan-like syndrome with loose anagen hair, is related to noonan syndrome-like disorder with loose anagen hair 1 and noonan syndrome-like disorder with loose anagen hair 2. An important gene associated with Noonan Syndrome-Like Disorder with Loose Anagen Hair is SHOC2 (SHOC2 Leucine Rich Repeat Scaffold Protein), and among its related pathways/superpathways are Platelet activation and TGF-Beta Pathway. Affiliated tissues include eye and brain, and related phenotypes are delayed skeletal maturation and short nose

Disease Ontology : 12 A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.

KEGG : 36 Noonan-like syndrome with loose anagen hair (NSLH) is characterized by features similar to those observed in Noonan syndrome. Besides, the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow growing. NSLH is caused by the mutations in SHOC2. Recently, the novel NSLH with mutations in PPP1CB has been identified.

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

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with loose anagen hair 1 32.7 SHOC2 PTPN11 KRAS HRAS
2 noonan syndrome-like disorder with loose anagen hair 2 31.5 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
3 loose anagen hair syndrome 30.9 SHOC2 ERAS
4 heart septal defect 30.5 SOS1 SHOC2 PTPN11
5 rhabdomyosarcoma 29.2 SOS1 PTPN11 MAP2K1 KRAS HRAS
6 pseudo-turner syndrome 28.9 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
7 hypertrophic cardiomyopathy 28.3 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 LZTR1
8 noonan syndrome 1 28.2 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
9 rasopathy 27.7 SOS2 SOS1 SHOC2 PTPN11 PPP1CB MAP2K1
10 systemic lupus erythematosus 10.4
11 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 10.4
12 exanthem 10.4
13 neuroblastoma 10.4
14 lupus erythematosus 10.4
15 cleft palate, isolated 10.4
16 coarctation of aorta 10.4
17 attention deficit-hyperactivity disorder 10.4
18 strabismus 10.4
19 moyamoya disease 1 10.4
20 alacrima, achalasia, and mental retardation syndrome 10.4
21 hemiplegia 10.4
22 ventricular septal defect 10.4
23 tic disorder 10.4
24 mechanical strabismus 10.4
25 hypopituitarism 10.4
26 hypotonia 10.4
27 familial isolated trichomegaly 10.2 SHOC2 ERAS
28 body dysmorphic disorder 10.2 SHOC2 PTPN11
29 testicular spermatocytic seminoma 10.1 PTPN11 HRAS
30 noonan syndrome and noonan-related syndrome 10.1 SOS1 PTPN11
31 villonodular synovitis 10.1 SOS1 PTPN11
32 growth hormone deficiency 10.0
33 apocrine adenoma 10.0 KRAS ERAS
34 prostate squamous cell carcinoma 10.0 MAP2K1 HRAS
35 legius syndrome 10.0 PTPN11 HRAS
36 pylorospasm 10.0 SOS2 LZTR1 A2ML1
37 patent ductus arteriosus 1 9.9 SOS1 SHOC2 PTPN11
38 epilepsy, familial temporal lobe, 8 9.9 SOS2 SOS1
39 hepatic flexure cancer 9.9 KRAS HRAS
40 trachea carcinoma in situ 9.9 KRAS HRAS
41 signet ring basal cell carcinoma 9.9 KRAS HRAS
42 cobblestone retinal degeneration 9.9 KRAS HRAS
43 immature teratoma of ovary 9.9 KRAS HRAS
44 descending colon cancer 9.9 KRAS HRAS
45 ampulla of vater neoplasm 9.9 KRAS HRAS
46 transverse colon cancer 9.9 KRAS HRAS
47 periampullary adenoma 9.9 KRAS HRAS
48 appendiceal neoplasm 9.9 KRAS HRAS
49 gallbladder benign neoplasm 9.9 KRAS HRAS
50 adenosquamous lung carcinoma 9.9 KRAS HRAS

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



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

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

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

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
5 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
6 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
7 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
8 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
9 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
10 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
11 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
12 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
13 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
14 deep philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0002002
15 pulmonic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001642
16 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
17 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
18 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
21 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
22 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
23 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
24 abnormal fingernail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001231
25 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
26 abnormality of the elbow 58 31 occasional (7.5%) Occasional (29-5%) HP:0009811
27 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
28 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
29 abnormality of the intervertebral disk 58 31 occasional (7.5%) Occasional (29-5%) HP:0005108

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

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.12 SOS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.12 KRAS PPP1CB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.12 KRAS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.12 SOS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.12 PPP1CB
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.12 KRAS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.12 SOS1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10.12 PPP1CB
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.12 KRAS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.12 KRAS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.12 PPP1CB
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.12 KRAS PPP1CB
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 10.12 KRAS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-196 10.12 KRAS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.12 SOS1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.12 PPP1CB
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.12 KRAS
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 10.12 KRAS
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.12 KRAS
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.12 KRAS
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.12 KRAS
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.12 KRAS
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.12 KRAS
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.12 PPP1CB
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.12 SOS1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.12 KRAS
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.12 KRAS
28 Reduced mammosphere formation GR00396-S 9.17 HRAS KRAS PPP1CB PTPN11 SHOC2 SOS1

MGI Mouse Phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 HRAS KRAS LZTR1 MAP2K1 PTPN11 SOS1
2 normal MP:0002873 9.1 HRAS KRAS MAP2K1 PTPN11 SHOC2 SOS2

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

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

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

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

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

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

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

40
Eye, Brain

Publications for Noonan Syndrome-Like Disorder with Loose Anagen Hair

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

(show all 38)
# Title Authors PMID Year
1
A Novel SHOC2 Variant in Rasopathy. 61 6
25137548 2014
2
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 6 61
19684605 2009
3
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 6
31059601 2019
4
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. 6
30348783 2018
5
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. 6
23918763 2013
6
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 6
22528146 2012
7
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 6
20882035 2010
8
Mutation and Phenotypic Spectrum of Patients With RASopathies. 61
33452774 2021
9
Mutation and Phenotypic Spectrum of Patients With RASopathies. 61
32769231 2020
10
A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone. 61
32476286 2020
11
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes. 61
31584751 2019
12
Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome. 61
30329053 2019
13
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. 61
30311384 2018
14
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway. 61
29924299 2018
15
Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications. 61
30236064 2018
16
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. 61
30240112 2018
17
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. 61
29737035 2018
18
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. 61
28371260 2017
19
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 61
28211982 2017
20
Noonan syndrome - a new survey. 61
28144274 2017
21
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. 61
26096762 2015
22
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma. 61
25846317 2015
23
Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair. 61
25858597 2015
24
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 61
25884655 2015
25
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. 61
25563136 2015
26
Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation. 61
25331583 2014
27
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 61
24458596 2014
28
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 61
24458587 2014
29
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 61
24451042 2014
30
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). 61
24124081 2013
31
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 61
23885229 2013
32
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation. 61
23524970 2013
33
Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation. 61
22995099 2012
34
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. 61
22419608 2012
35
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. 61
22253195 2012
36
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 61
21548061 2011
37
Noonan syndrome: clinical aspects and molecular pathogenesis. 61
20648242 2010
38
Noonan-like syndrome with loose anagen hair: a new syndrome? 61
12673660 2003

Variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair

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

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SHOC2 NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) SNV Pathogenic 181528 rs730881020 10:112724635-112724635 10:110964877-110964877
2 SHOC2 NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr) Indel Pathogenic 973849 10:112745489-112745490 10:110985731-110985732
3 SHOC2 NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) SNV Pathogenic 6821 rs267607048 10:112724120-112724120 10:110964362-110964362
4 SHOC2 NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) SNV Pathogenic 6821 rs267607048 10:112724120-112724120 10:110964362-110964362
5 SHOC2 NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) SNV Likely pathogenic 976139 10:112769487-112769487 10:111009729-111009729
6 SHOC2 NM_007373.3(SHOC2):c.*1245T>C SNV Uncertain significance 298879 rs754913685 10:112772821-112772821 10:111013063-111013063
7 SHOC2 NM_007373.4(SHOC2):c.*685C>T SNV Uncertain significance 879705 10:112772261-112772261 10:111012503-111012503
8 SHOC2 NM_007373.4(SHOC2):c.*825G>A SNV Uncertain significance 879706 10:112772401-112772401 10:111012643-111012643
9 SHOC2 NM_001324336.2(SHOC2):c.-235+105T>G SNV Uncertain significance 880483 10:112679304-112679304 10:110919546-110919546
10 SHOC2 NM_007373.4(SHOC2):c.-264A>T SNV Uncertain significance 880484 10:112679386-112679386 10:110919628-110919628
11 SHOC2 NM_007373.4(SHOC2):c.-259G>A SNV Uncertain significance 880485 10:112679391-112679391 10:110919633-110919633
12 SHOC2 NM_007373.3(SHOC2):c.*1487G>T SNV Uncertain significance 298885 rs7074770 10:112773063-112773063 10:111013305-111013305
13 SHOC2 NM_007373.3(SHOC2):c.-254C>T SNV Uncertain significance 298859 rs886046728 10:112679396-112679396 10:110919638-110919638
14 SHOC2 NM_007373.3(SHOC2):c.*656C>G SNV Uncertain significance 298871 rs557334390 10:112772232-112772232 10:111012474-111012474
15 SHOC2 NM_007373.4(SHOC2):c.*1381G>C SNV Uncertain significance 878792 10:112772957-112772957 10:111013199-111013199
16 SHOC2 NM_007373.4(SHOC2):c.*1508G>T SNV Uncertain significance 878793 10:112773084-112773084 10:111013326-111013326
17 SHOC2 NM_007373.3(SHOC2):c.1284+15G>A SNV Uncertain significance 298863 rs770745229 10:112767426-112767426 10:111007668-111007668
18 SHOC2 NM_007373.3(SHOC2):c.*404A>G SNV Uncertain significance 298866 rs539394184 10:112771980-112771980 10:111012222-111012222
19 SHOC2 NM_007373.3(SHOC2):c.*1486dup Duplication Uncertain significance 298883 rs549502834 10:112773061-112773062 10:111013303-111013304
20 SHOC2 NM_007373.3(SHOC2):c.*614T>G SNV Uncertain significance 298869 rs886046732 10:112772190-112772190 10:111012432-111012432
21 SHOC2 NM_007373.3(SHOC2):c.774A>G (p.Gly258=) SNV Uncertain significance 298862 rs753237615 10:112745456-112745456 10:110985698-110985698
22 SHOC2 NM_007373.3(SHOC2):c.1422+9_1422+11del Deletion Uncertain significance 298864 rs750754038 10:112769150-112769152 10:111009392-111009394
23 SHOC2 NM_007373.3(SHOC2):c.*958C>A SNV Uncertain significance 298875 rs372493479 10:112772534-112772534 10:111012776-111012776
24 SHOC2 NM_007373.3(SHOC2):c.*1218C>T SNV Uncertain significance 298878 rs886046735 10:112772794-112772794 10:111013036-111013036
25 SHOC2 NM_007373.3(SHOC2):c.*1324G>A SNV Uncertain significance 298881 rs559572636 10:112772900-112772900 10:111013142-111013142
26 SHOC2 NM_007373.3(SHOC2):c.*1575A>G SNV Uncertain significance 298887 rs886046736 10:112773151-112773151 10:111013393-111013393
27 SHOC2 NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr) SNV Uncertain significance 298860 rs751292868 10:112724817-112724817 10:110965059-110965059
28 SHOC2 NM_007373.3(SHOC2):c.*625del Deletion Uncertain significance 298870 rs886046733 10:112772192-112772192 10:111012434-111012434
29 SHOC2 NM_007373.3(SHOC2):c.*518T>C SNV Uncertain significance 298868 rs886046731 10:112772094-112772094 10:111012336-111012336
30 SHOC2 NM_007373.3(SHOC2):c.355A>G (p.Ile119Val) SNV Uncertain significance 181527 rs147068827 10:112724471-112724471 10:110964713-110964713
31 SHOC2 NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) SNV Uncertain significance 40637 rs730881019 10:112724190-112724190 10:110964432-110964432
32 SHOC2 NM_007373.3(SHOC2):c.-244G>T SNV Uncertain significance 139105 rs192673935 10:112679406-112679406 10:110919648-110919648
33 SHOC2 NM_007373.4(SHOC2):c.-235+15A>G SNV Uncertain significance 877713 10:112679430-112679430 10:110919672-110919672
34 SHOC2 NM_007373.3(SHOC2):c.-114C>G SNV Uncertain significance 40633 10:112724003-112724003 10:110964245-110964245
35 SHOC2 NM_007373.3(SHOC2):c.32C>A (p.Ser11Tyr) SNV Uncertain significance 496406 rs1381863749 10:112724148-112724148 10:110964390-110964390
36 SHOC2 NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg) SNV Uncertain significance 877714 10:112724172-112724172 10:110964414-110964414
37 SHOC2 NM_007373.4(SHOC2):c.*979C>T SNV Uncertain significance 877760 10:112772555-112772555 10:111012797-111012797
38 SHOC2 NM_007373.4(SHOC2):c.*990T>G SNV Uncertain significance 877761 10:112772566-112772566 10:111012808-111012808
39 SHOC2 NM_007373.4(SHOC2):c.*1269A>G SNV Uncertain significance 877762 10:112772845-112772845 10:111013087-111013087
40 SHOC2 NM_007373.4(SHOC2):c.1215A>G (p.Val405=) SNV Likely benign 878756 10:112767342-112767342 10:111007584-111007584
41 SHOC2 NM_007373.3(SHOC2):c.*1062dup Duplication Likely benign 298876 rs530047047 10:112772637-112772638 10:111012879-111012880
42 SHOC2 NM_007373.3(SHOC2):c.*506_*509del Deletion Likely benign 298867 rs371679867 10:112772082-112772085 10:111012324-111012327
43 SHOC2 NM_007373.3(SHOC2):c.703+15ATT[3] Microsatellite Likely benign 298861 rs370351651 10:112724834-112724836 10:110965076-110965078
44 SHOC2 NM_007373.3(SHOC2):c.*1775del Deletion Likely benign 298888 rs527775221 10:112773342-112773342 10:111013584-111013584
45 SHOC2 NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala) SNV Likely benign 181526 rs730881018 10:112724154-112724154 10:110964396-110964396
46 SHOC2 NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) SNV Benign 40635 rs397517231 10:112724126-112724126 10:110964368-110964368
47 SHOC2 NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) SNV Benign 139110 rs145463534 10:112771421-112771421 10:111011663-111011663
48 SHOC2 NM_007373.4(SHOC2):c.1423-7C>T SNV Benign 139109 rs180671383 10:112769464-112769464 10:111009706-111009706
49 SHOC2 NM_007373.3(SHOC2):c.457C>T (p.Leu153=) SNV Benign 139104 rs34081996 10:112724573-112724573 10:110964815-110964815
50 SHOC2 NM_007373.3(SHOC2):c.*164T>A SNV Benign 298865 rs191293913 10:112771740-112771740 10:111011982-111011982

Expression for Noonan Syndrome-Like Disorder with Loose Anagen Hair

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

Pathways for Noonan Syndrome-Like Disorder with Loose Anagen Hair

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

36
# Name Kegg Source Accession
1 Platelet activation hsa04611

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

(show top 50) (show all 160)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 SOS2 SOS1 PTPN11 MAP2K1 KRAS HRAS
2
Show member pathways
13.49 SOS2 SOS1 PTPN11 MAP2K1 KRAS HRAS
3
Show member pathways
13.42 SOS2 SOS1 PPP1CB MAP2K1 KRAS HRAS
4
Show member pathways
13.35 SOS2 SOS1 PPP1CB MAP2K1 KRAS HRAS
5
Show member pathways
13.26 SOS2 SOS1 MAP2K1 KRAS HRAS
6
Show member pathways
13.2 SOS2 SOS1 MAP2K1 KRAS HRAS
7
Show member pathways
13.11 SOS2 SOS1 PPP1CB MAP2K1 KRAS HRAS
8
Show member pathways
13.08 SOS2 SOS1 MAP2K1 KRAS HRAS
9
Show member pathways
13.08 SOS2 SOS1 MAP2K1 KRAS HRAS
10
Show member pathways
13.07 SOS2 SOS1 MAP2K1 KRAS HRAS
11
Show member pathways
13.06 SOS2 SOS1 MAP2K1 KRAS HRAS
12
Show member pathways
13.03 SOS2 SOS1 PPP1CB MAP2K1 KRAS HRAS
13
Show member pathways
13.02 SOS2 SOS1 MAP2K1 KRAS HRAS
14
Show member pathways
12.98 SOS2 SOS1 MAP2K1 KRAS HRAS
15
Show member pathways
12.96 SOS2 SOS1 MAP2K1 KRAS HRAS
16
Show member pathways
12.94 SOS2 SOS1 PPP1CB MAP2K1 KRAS HRAS
17
Show member pathways
12.93 SOS2 SOS1 MAP2K1 KRAS HRAS
18
Show member pathways
12.93 SOS2 SOS1 PTPN11 PPP1CB MAP2K1 KRAS
19
Show member pathways
12.91 SOS2 SOS1 MAP2K1 KRAS HRAS
20
Show member pathways
12.91 SOS2 SOS1 PTPN11 MAP2K1 KRAS HRAS
21 12.89 SOS2 SOS1 MAP2K1 KRAS HRAS
22
Show member pathways
12.89 SOS2 SOS1 MAP2K1 KRAS HRAS
23
Show member pathways
12.86 SOS2 SOS1 MAP2K1 KRAS HRAS
24
Show member pathways
12.85 SOS1 PTPN11 KRAS HRAS
25
Show member pathways
12.83 SOS2 SOS1 PTPN11 MAP2K1 KRAS HRAS
26 12.82 SOS2 SOS1 MAP2K1 KRAS HRAS
27
Show member pathways
12.82 SOS2 SOS1 MAP2K1 KRAS HRAS
28
Show member pathways
12.78 PPP1CB MAP2K1 KRAS HRAS
29
Show member pathways
12.78 SOS2 SOS1 PTPN11 MAP2K1 KRAS HRAS
30
Show member pathways
12.75 SOS1 PTPN11 KRAS HRAS
31
Show member pathways
12.74 SOS2 SOS1 MAP2K1 HRAS
32
Show member pathways
12.74 SOS2 SOS1 MAP2K1 KRAS HRAS
33
Show member pathways
12.73 SOS2 SOS1 MAP2K1 KRAS HRAS
34
Show member pathways
12.73 SOS2 SOS1 PPP1CB MAP2K1 KRAS HRAS
35 12.7 SOS2 SOS1 PPP1CB MAP2K1 KRAS HRAS
36
Show member pathways
12.7 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 KRAS
37
Show member pathways
12.69 SOS2 SOS1 MAP2K1 KRAS
38
Show member pathways
12.69 SOS2 SOS1 PPP1CB MAP2K1 KRAS HRAS
39
Show member pathways
12.68 SOS2 SOS1 PTPN11 MAP2K1 KRAS HRAS
40
Show member pathways
12.66 SOS2 SOS1 MAP2K1 HRAS
41
Show member pathways
12.66 SOS2 SOS1 PTPN11 KRAS HRAS
42
Show member pathways
12.66 SOS2 SOS1 PTPN11 MAP2K1 KRAS HRAS
43
Show member pathways
12.65 SOS2 SOS1 PPP1CB MAP2K1 HRAS
44
Show member pathways
12.65 SOS2 SOS1 PTPN11 MAP2K1 KRAS HRAS
45
Show member pathways
12.64 SOS2 SOS1 PTPN11 MAP2K1 HRAS
46
Show member pathways
12.63 SOS2 SOS1 MAP2K1 HRAS
47
Show member pathways
12.62 SOS1 PTPN11 KRAS HRAS
48 12.61 SOS2 SOS1 MAP2K1 KRAS HRAS
49
Show member pathways
12.59 SOS2 SOS1 PTPN11 MAP2K1 HRAS
50
Show member pathways
12.57 SOS2 SOS1 MAP2K1 KRAS HRAS

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

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.04 SOS1 SHOC2 MAP2K1 KRAS HRAS ERAS
2 MAPK cascade GO:0000165 9.67 SOS1 MAP2K1 KRAS HRAS
3 small GTPase mediated signal transduction GO:0007264 9.65 SOS2 SOS1 HRAS
4 homeostasis of number of cells within a tissue GO:0048873 9.56 PTPN11 KRAS
5 cellular senescence GO:0090398 9.55 MAP2K1 HRAS
6 B cell homeostasis GO:0001782 9.54 SOS2 SOS1
7 neurotrophin TRK receptor signaling pathway GO:0048011 9.52 SOS1 PTPN11
8 regulation of long-term neuronal synaptic plasticity GO:0048169 9.51 KRAS HRAS
9 regulation of T cell proliferation GO:0042129 9.49 SOS2 SOS1
10 Bergmann glial cell differentiation GO:0060020 9.46 PTPN11 MAP2K1
11 lymphocyte homeostasis GO:0002260 9.43 SOS2 SOS1
12 response to isolation stress GO:0035900 9.4 KRAS HRAS
13 positive regulation of small GTPase mediated signal transduction GO:0051057 9.32 SOS2 SOS1
14 regulation of T cell differentiation in thymus GO:0033081 9.26 SOS2 SOS1
15 regulation of pro-B cell differentiation GO:2000973 9.16 SOS2 SOS1
16 Ras protein signal transduction GO:0007265 9.02 SOS1 SHOC2 KRAS HRAS ERAS
17 cerebellar cortex formation GO:0021697 8.96 PTPN11 MAP2K1

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

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 8.8 KRAS HRAS ERAS

Sources for Noonan Syndrome-Like Disorder with Loose Anagen Hair

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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