NSLH1
MCID: NNN028
MIFTS: 49

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

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 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 12 72 29 6 15
Mazzanti Syndrome 57 72 6
Tosti Syndrome 57 72
Nslh1 57 72
Nslh 57 72
Noonan Syndrome-Like Disorder with Loose Anagen Hair 70
Noonan Syndrome-Like with Loose Anagen Hair 1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
intra- and interfamilial clinical variability


HPO:

31
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) (Updated 20-May-2021)

MalaCards based summary : Noonan Syndrome-Like Disorder with Loose Anagen Hair 1, also known as mazzanti syndrome, is related to exanthem and noonan syndrome-like disorder with loose anagen hair. 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 are DAG and IP3 signaling and Downstream signaling of activated FGFR2. Affiliated tissues include eye, lung and myeloid, and related phenotypes are ichthyosis and joint laxity

Disease Ontology : 12 A Noonan-like syndrome with loose anagen hair that has material basis in heterozygous mutation in the SHOC2 gene on chromosome 10q25.

UniProtKB/Swiss-Prot : 72 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 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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 exanthem 30.4 KRAS HRAS
2 noonan syndrome-like disorder with loose anagen hair 29.6 SHOC2 PTPN11 KRAS HRAS
3 rasopathy 29.6 SHOC2 PTPN11 KRAS HRAS
4 pseudo-turner syndrome 29.6 SHOC2 PTPN11 KRAS HRAS
5 noonan syndrome 1 29.6 SHOC2 PTPN11 KRAS HRAS
6 hypertrophic cardiomyopathy 29.6 SHOC2 PTPN11 KRAS HRAS
7 systemic lupus erythematosus 10.4
8 lupus erythematosus 10.4
9 testicular spermatocytic seminoma 10.0 PTPN11 HRAS
10 skin granular cell tumor 10.0 SHOC2 PTPN11
11 growth hormone deficiency 10.0
12 noonan syndrome-like disorder with loose anagen hair 2 10.0 SHOC2 PTPN11
13 legius syndrome 10.0 PTPN11 HRAS
14 myelodysplastic/myeloproliferative neoplasm 10.0 PTPN11 HRAS
15 heart septal defect 9.9 SHOC2 PTPN11
16 patent ductus arteriosus 1 9.9 SHOC2 PTPN11
17 hepatic flexure cancer 9.9 KRAS HRAS
18 trachea carcinoma in situ 9.9 KRAS HRAS
19 signet ring basal cell carcinoma 9.9 KRAS HRAS
20 cobblestone retinal degeneration 9.9 KRAS HRAS
21 immature teratoma of ovary 9.9 KRAS HRAS
22 pancreatic signet ring cell adenocarcinoma 9.9 KRAS HRAS
23 signet ring cell adenocarcinoma 9.9 KRAS HRAS
24 descending colon cancer 9.9 KRAS HRAS
25 ampulla of vater benign neoplasm 9.9 KRAS HRAS
26 transverse colon cancer 9.9 KRAS HRAS
27 periampullary adenoma 9.9 KRAS HRAS
28 bone giant cell sarcoma 9.9 KRAS HRAS
29 acneiform dermatitis 9.9 KRAS HRAS
30 appendiceal neoplasm 9.9 KRAS HRAS
31 gallbladder benign neoplasm 9.9 KRAS HRAS
32 adenosquamous lung carcinoma 9.9 KRAS HRAS
33 appendix adenocarcinoma 9.9 KRAS HRAS
34 mucinous lung adenocarcinoma 9.9 KRAS HRAS
35 wolffian duct adenocarcinoma 9.9 KRAS HRAS
36 myh-associated polyposis 9.9 KRAS HRAS
37 ascending colon cancer 9.9 KRAS HRAS
38 biliary tract benign neoplasm 9.9 KRAS HRAS
39 ovarian mucinous neoplasm 9.9 KRAS HRAS
40 malignant exocrine pancreas neoplasm 9.9 KRAS HRAS
41 pancreatic acinar cell adenocarcinoma 9.9 KRAS HRAS
42 paronychia 9.9 KRAS HRAS
43 appendix disease 9.9 KRAS HRAS
44 bile duct cysts 9.9 KRAS HRAS
45 lung carcinoma in situ 9.9 KRAS HRAS
46 small intestine adenocarcinoma 9.9 KRAS HRAS
47 papillary adenoma 9.9 KRAS HRAS
48 ethmoid sinus adenocarcinoma 9.9 KRAS HRAS
49 appendix cancer 9.9 KRAS HRAS
50 duodenum adenocarcinoma 9.9 KRAS HRAS

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

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

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 ichthyosis 31 occasional (7.5%) HP:0008064
2 joint laxity 31 occasional (7.5%) HP:0001388
3 nasal speech 31 occasional (7.5%) HP:0001611
4 eczema 31 occasional (7.5%) HP:0000964
5 long eyelashes 31 occasional (7.5%) HP:0000527
6 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
7 feeding difficulties 31 occasional (7.5%) HP:0011968
8 deep palmar crease 31 occasional (7.5%) HP:0006191
9 generalized hypotonia 31 occasional (7.5%) HP:0001290
10 keratosis pilaris 31 very rare (1%) HP:0032152
11 macrocephaly 31 HP:0000256
12 intellectual disability 31 HP:0001249
13 short neck 31 HP:0000470
14 hypertelorism 31 HP:0000316
15 short stature 31 HP:0004322
16 prominent forehead 31 HP:0011220
17 strabismus 31 HP:0000486
18 low-set ears 31 HP:0000369
19 webbed neck 31 HP:0000465
20 atrial septal defect 31 HP:0001631
21 hypertrophic cardiomyopathy 31 HP:0001639
22 polyhydramnios 31 HP:0001561
23 sparse scalp hair 31 HP:0002209
24 ventricular septal defect 31 HP:0001629
25 pulmonic stenosis 31 HP:0001642
26 posteriorly rotated ears 31 HP:0000358
27 hyperactivity 31 HP:0000752
28 loose anagen hair 31 HP:0040169

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
long eyelashes
downslanting palpebral fissures
more
Growth Height:
short stature

Head And Neck Face:
prominent forehead
broad forehead

Cardiovascular Heart:
atrial septal defect
hypertrophic cardiomyopathy
ventricular septal defect
pulmonic stenosis
mitral/tricuspid valve dysplasia
more
Skin Nails Hair Hair:
sparse scalp hair
slow-growing scalp hair
loose anagen hair
absent scalp hair

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Skin Nails Hair Nails:
clubbing

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
mental retardation
delayed independent walking
thin corpus callosum
decreased white matter volume
vertical tentorium
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus anomalies

Growth Other:
failure to thrive

Head And Neck Neck:
short neck
webbed neck

Skin Nails Hair Skin:
ichthyosis
eczema
keratosis pilaris
deep palmar creases
darkly pigmented skin
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
ligamentous laxity

Muscle Soft Tissue:
hypotonia

Growth Weight:
increased birth weight

Voice:
hypernasal voice

Endocrine Features:
low or absent growth hormone

Clinical features from OMIM®:

607721 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 HRAS KRAS PTPN11 SHOC2

MGI Mouse Phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.46 HRAS KRAS PTPN11 SHOC2
2 normal MP:0002873 9.26 HRAS KRAS PTPN11 SHOC2
3 respiratory system MP:0005388 8.92 HRAS KRAS PTPN11 SHOC2

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

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:

40
Eye, Lung, Myeloid, Colon, Ovary, Appendix, 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 17)
# Title Authors PMID Year
1
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 57 6
31059601 2019
2
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. 6 57
30348783 2018
3
A Novel SHOC2 Variant in Rasopathy. 6 57
25137548 2014
4
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. 6 57
23918763 2013
5
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 6 57
22528146 2012
6
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 57 6
20882035 2010
7
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 6 57
19684605 2009
8
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 57
28211982 2017
9
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. 6
25563136 2015
10
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 6
24458596 2014
11
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 6
24458587 2014
12
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 6
21548061 2011
13
Noonan-like syndrome with loose anagen hair: a new syndrome? 57
12673660 2003
14
Loose anagen hair. 57
9301585 1997
15
Loose anagen hair in a child with Noonan's syndrome. 57
1884862 1991
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

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

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

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHOC2 NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) SNV Pathogenic 181528 rs730881020 GRCh37: 10:112724635-112724635
GRCh38: 10:110964877-110964877
2 SHOC2 NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr) Indel Pathogenic 973849 GRCh37: 10:112745489-112745490
GRCh38: 10:110985731-110985732
3 SHOC2 NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) SNV Pathogenic 6821 rs267607048 GRCh37: 10:112724120-112724120
GRCh38: 10:110964362-110964362
4 SHOC2 NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) SNV Pathogenic 6821 rs267607048 GRCh37: 10:112724120-112724120
GRCh38: 10:110964362-110964362
5 SHOC2 NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) SNV Likely pathogenic 976139 GRCh37: 10:112769487-112769487
GRCh38: 10:111009729-111009729
6 SHOC2 NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs) Indel Uncertain significance 1030214 GRCh37: 10:112724622-112724623
GRCh38: 10:110964864-110964865
7 SHOC2 NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile) SNV Uncertain significance 1030215 GRCh37: 10:112745518-112745518
GRCh38: 10:110985760-110985760
8 SHOC2 NM_007373.4(SHOC2):c.*685C>T SNV Uncertain significance 879705 GRCh37: 10:112772261-112772261
GRCh38: 10:111012503-111012503
9 SHOC2 NM_007373.4(SHOC2):c.*825G>A SNV Uncertain significance 879706 GRCh37: 10:112772401-112772401
GRCh38: 10:111012643-111012643
10 SHOC2 NM_001324336.2(SHOC2):c.-235+105T>G SNV Uncertain significance 880483 GRCh37: 10:112679304-112679304
GRCh38: 10:110919546-110919546
11 SHOC2 NM_007373.4(SHOC2):c.-264A>T SNV Uncertain significance 880484 GRCh37: 10:112679386-112679386
GRCh38: 10:110919628-110919628
12 SHOC2 NM_007373.4(SHOC2):c.-259G>A SNV Uncertain significance 880485 GRCh37: 10:112679391-112679391
GRCh38: 10:110919633-110919633
13 SHOC2 NM_007373.3(SHOC2):c.*1487G>T SNV Uncertain significance 298885 rs7074770 GRCh37: 10:112773063-112773063
GRCh38: 10:111013305-111013305
14 SHOC2 NM_007373.3(SHOC2):c.-254C>T SNV Uncertain significance 298859 rs886046728 GRCh37: 10:112679396-112679396
GRCh38: 10:110919638-110919638
15 SHOC2 NM_007373.3(SHOC2):c.*656C>G SNV Uncertain significance 298871 rs557334390 GRCh37: 10:112772232-112772232
GRCh38: 10:111012474-111012474
16 SHOC2 NM_007373.4(SHOC2):c.*1381G>C SNV Uncertain significance 878792 GRCh37: 10:112772957-112772957
GRCh38: 10:111013199-111013199
17 SHOC2 NM_007373.4(SHOC2):c.*1508G>T SNV Uncertain significance 878793 GRCh37: 10:112773084-112773084
GRCh38: 10:111013326-111013326
18 SHOC2 NM_007373.3(SHOC2):c.*1245T>C SNV Uncertain significance 298879 rs754913685 GRCh37: 10:112772821-112772821
GRCh38: 10:111013063-111013063
19 SHOC2 NM_007373.3(SHOC2):c.1284+15G>A SNV Uncertain significance 298863 rs770745229 GRCh37: 10:112767426-112767426
GRCh38: 10:111007668-111007668
20 SHOC2 NM_007373.3(SHOC2):c.*404A>G SNV Uncertain significance 298866 rs539394184 GRCh37: 10:112771980-112771980
GRCh38: 10:111012222-111012222
21 SHOC2 NM_007373.3(SHOC2):c.*1486dup Duplication Uncertain significance 298883 rs549502834 GRCh37: 10:112773061-112773062
GRCh38: 10:111013303-111013304
22 SHOC2 NM_007373.3(SHOC2):c.*614T>G SNV Uncertain significance 298869 rs886046732 GRCh37: 10:112772190-112772190
GRCh38: 10:111012432-111012432
23 SHOC2 NM_007373.3(SHOC2):c.774A>G (p.Gly258=) SNV Uncertain significance 298862 rs753237615 GRCh37: 10:112745456-112745456
GRCh38: 10:110985698-110985698
24 SHOC2 NM_007373.3(SHOC2):c.1422+9_1422+11del Deletion Uncertain significance 298864 rs750754038 GRCh37: 10:112769150-112769152
GRCh38: 10:111009392-111009394
25 SHOC2 NM_007373.3(SHOC2):c.*958C>A SNV Uncertain significance 298875 rs372493479 GRCh37: 10:112772534-112772534
GRCh38: 10:111012776-111012776
26 SHOC2 NM_007373.3(SHOC2):c.*1218C>T SNV Uncertain significance 298878 rs886046735 GRCh37: 10:112772794-112772794
GRCh38: 10:111013036-111013036
27 SHOC2 NM_007373.3(SHOC2):c.*1324G>A SNV Uncertain significance 298881 rs559572636 GRCh37: 10:112772900-112772900
GRCh38: 10:111013142-111013142
28 SHOC2 NM_007373.3(SHOC2):c.*1575A>G SNV Uncertain significance 298887 rs886046736 GRCh37: 10:112773151-112773151
GRCh38: 10:111013393-111013393
29 SHOC2 NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr) SNV Uncertain significance 298860 rs751292868 GRCh37: 10:112724817-112724817
GRCh38: 10:110965059-110965059
30 SHOC2 NM_007373.3(SHOC2):c.*625del Deletion Uncertain significance 298870 rs886046733 GRCh37: 10:112772192-112772192
GRCh38: 10:111012434-111012434
31 SHOC2 NM_007373.3(SHOC2):c.*518T>C SNV Uncertain significance 298868 rs886046731 GRCh37: 10:112772094-112772094
GRCh38: 10:111012336-111012336
32 SHOC2 NM_007373.3(SHOC2):c.355A>G (p.Ile119Val) SNV Uncertain significance 181527 rs147068827 GRCh37: 10:112724471-112724471
GRCh38: 10:110964713-110964713
33 SHOC2 NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) SNV Uncertain significance 40637 rs730881019 GRCh37: 10:112724190-112724190
GRCh38: 10:110964432-110964432
34 SHOC2 NM_007373.3(SHOC2):c.-244G>T SNV Uncertain significance 139105 rs192673935 GRCh37: 10:112679406-112679406
GRCh38: 10:110919648-110919648
35 SHOC2 NM_007373.4(SHOC2):c.-235+15A>G SNV Uncertain significance 877713 GRCh37: 10:112679430-112679430
GRCh38: 10:110919672-110919672
36 SHOC2 NM_007373.3(SHOC2):c.-114C>G SNV Uncertain significance 40633 GRCh37: 10:112724003-112724003
GRCh38: 10:110964245-110964245
37 SHOC2 NM_007373.3(SHOC2):c.32C>A (p.Ser11Tyr) SNV Uncertain significance 496406 rs1381863749 GRCh37: 10:112724148-112724148
GRCh38: 10:110964390-110964390
38 SHOC2 NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg) SNV Uncertain significance 877714 GRCh37: 10:112724172-112724172
GRCh38: 10:110964414-110964414
39 SHOC2 NM_007373.4(SHOC2):c.*979C>T SNV Uncertain significance 877760 GRCh37: 10:112772555-112772555
GRCh38: 10:111012797-111012797
40 SHOC2 NM_007373.4(SHOC2):c.*990T>G SNV Uncertain significance 877761 GRCh37: 10:112772566-112772566
GRCh38: 10:111012808-111012808
41 SHOC2 NM_007373.4(SHOC2):c.*1269A>G SNV Uncertain significance 877762 GRCh37: 10:112772845-112772845
GRCh38: 10:111013087-111013087
42 SHOC2 NM_007373.4(SHOC2):c.1215A>G (p.Val405=) SNV Likely benign 878756 GRCh37: 10:112767342-112767342
GRCh38: 10:111007584-111007584
43 SHOC2 NM_007373.3(SHOC2):c.*1062dup Duplication Likely benign 298876 rs530047047 GRCh37: 10:112772637-112772638
GRCh38: 10:111012879-111012880
44 SHOC2 NM_007373.3(SHOC2):c.*506_*509del Deletion Likely benign 298867 rs371679867 GRCh37: 10:112772082-112772085
GRCh38: 10:111012324-111012327
45 SHOC2 NM_007373.3(SHOC2):c.703+15ATT[3] Microsatellite Likely benign 298861 rs370351651 GRCh37: 10:112724834-112724836
GRCh38: 10:110965076-110965078
46 SHOC2 NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala) SNV Likely benign 181526 rs730881018 GRCh37: 10:112724154-112724154
GRCh38: 10:110964396-110964396
47 SHOC2 NM_007373.3(SHOC2):c.*1775del Deletion Likely benign 298888 rs527775221 GRCh37: 10:112773342-112773342
GRCh38: 10:111013584-111013584
48 SHOC2 NM_007373.3(SHOC2):c.*164T>A SNV Benign 298865 rs191293913 GRCh37: 10:112771740-112771740
GRCh38: 10:111011982-111011982
49 SHOC2 NM_007373.3(SHOC2):c.*16C>A SNV Benign 378581 rs753327392 GRCh37: 10:112771592-112771592
GRCh38: 10:111011834-111011834
50 SHOC2 NM_007373.4(SHOC2):c.*20C>T SNV Benign 879344 GRCh37: 10:112771596-112771596
GRCh38: 10:111011838-111011838

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

72
# Symbol AA change Variation ID SNP ID
1 SHOC2 p.Ser2Gly VAR_060199 rs267607048
2 SHOC2 p.Met173Ile VAR_074030 rs730881020

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 GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 PTPN11 KRAS HRAS
2
Show member pathways
12.63 PTPN11 KRAS HRAS
3
Show member pathways
12.62 PTPN11 KRAS HRAS
4
Show member pathways
12.57 PTPN11 KRAS HRAS
5
Show member pathways
12.55 PTPN11 KRAS HRAS
6
Show member pathways
12.51 PTPN11 KRAS HRAS
7
Show member pathways
12.49 PTPN11 KRAS HRAS
8
Show member pathways
12.38 PTPN11 KRAS HRAS
9
Show member pathways
12.37 PTPN11 KRAS HRAS
10
Show member pathways
12.36 PTPN11 KRAS HRAS
11
Show member pathways
12.35 PTPN11 KRAS HRAS
12
Show member pathways
12.27 PTPN11 KRAS HRAS
13
Show member pathways
12.25 PTPN11 KRAS HRAS
14
Show member pathways
12.24 PTPN11 KRAS HRAS
15
Show member pathways
12.19 PTPN11 KRAS HRAS
16
Show member pathways
12.14 PTPN11 KRAS HRAS
17
Show member pathways
12.13 PTPN11 KRAS HRAS
18
Show member pathways
12.12 PTPN11 KRAS HRAS
19
Show member pathways
12.11 PTPN11 KRAS HRAS
20
Show member pathways
12.1 SHOC2 PTPN11 KRAS HRAS
21 12.02 PTPN11 KRAS HRAS
22
Show member pathways
11.97 PTPN11 KRAS HRAS
23
Show member pathways
11.95 PTPN11 KRAS HRAS
24 11.91 PTPN11 KRAS HRAS
25
Show member pathways
11.86 PTPN11 KRAS HRAS
26
Show member pathways
11.82 PTPN11 KRAS HRAS
27 11.81 KRAS HRAS
28 11.81 KRAS HRAS
29 11.79 KRAS HRAS
30
Show member pathways
11.78 KRAS HRAS
31
Show member pathways
11.78 KRAS HRAS
32 11.76 PTPN11 KRAS HRAS
33 11.74 KRAS HRAS
34
Show member pathways
11.73 PTPN11 HRAS
35
Show member pathways
11.7 PTPN11 HRAS
36
Show member pathways
11.7 KRAS HRAS
37
Show member pathways
11.7 PTPN11 HRAS
38
Show member pathways
11.69 KRAS HRAS
39 11.68 KRAS HRAS
40
Show member pathways
11.68 PTPN11 KRAS HRAS
41
Show member pathways
11.65 KRAS HRAS
42 11.59 KRAS HRAS
43 11.59 KRAS HRAS
44 11.57 KRAS HRAS
45 11.57 KRAS HRAS
46 11.56 KRAS HRAS
47
Show member pathways
11.56 PTPN11 KRAS HRAS
48 11.55 KRAS HRAS
49
Show member pathways
11.53 KRAS HRAS
50 11.52 KRAS HRAS

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

Biological processes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.48 KRAS HRAS
2 liver development GO:0001889 9.46 KRAS HRAS
3 ephrin receptor signaling pathway GO:0048013 9.43 PTPN11 HRAS
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.4 SHOC2 PTPN11
5 positive regulation of MAP kinase activity GO:0043406 9.37 KRAS HRAS
6 positive regulation of Ras protein signal transduction GO:0046579 9.32 SHOC2 HRAS
7 homeostasis of number of cells within a tissue GO:0048873 9.26 PTPN11 KRAS
8 regulation of long-term neuronal synaptic plasticity GO:0048169 9.16 KRAS HRAS
9 response to isolation stress GO:0035900 8.96 KRAS HRAS
10 Ras protein signal transduction GO:0007265 8.8 SHOC2 KRAS HRAS

Molecular functions related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 8.62 KRAS HRAS

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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