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, Neuronal diseases, Rare diseases, Skin diseases
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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 11 73 28 5 14
Mazzanti Syndrome 57 73 5
Tosti Syndrome 57 73
Nslh1 57 73
Nslh 57 73
Noonan Syndrome-Like Disorder with Loose Anagen Hair 71
Noonan Syndrome-Like with Loose Anagen Hair 1 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
intra- and interfamilial clinical variability


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 08-Dec-2022)

MalaCards based summary: Noonan Syndrome-Like Disorder with Loose Anagen Hair 1, also known as mazzanti syndrome, is related to noonan syndrome-like disorder with loose anagen hair and exanthem. 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 Disease and Signal Transduction. Affiliated tissues include skin and brain, and related phenotypes are deep palmar crease and hypoplasia of the corpus callosum

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A Noonan-like syndrome with loose anagen hair that has material basis in heterozygous mutation in the SHOC2 gene on chromosome 10q25.

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 166)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with loose anagen hair 30.7 SHOC2 PTPN11
2 exanthem 30.4 KRAS HRAS
3 rasopathy 29.6 SHOC2 PTPN11 KRAS HRAS
4 noonan syndrome 1 29.6 SHOC2 PTPN11 KRAS HRAS
5 hypertrophic cardiomyopathy 29.6 SHOC2 PTPN11 KRAS HRAS
6 systemic lupus erythematosus 10.4
7 cardiomyopathy, familial hypertrophic, 1 10.4
8 systemic lupus erythematosus 1 10.4
9 malaria 10.4
10 lupus erythematosus 10.4
11 growth hormone deficiency 10.0
12 testicular spermatocytic seminoma 10.0 PTPN11 HRAS
13 skin granular cell tumor 10.0 SHOC2 PTPN11
14 cystic lymphangioma 10.0 SHOC2 PTPN11
15 pulmonary valve stenosis 10.0 SHOC2 PTPN11
16 pulmonary valve disease 10.0 SHOC2 PTPN11
17 myelodysplastic/myeloproliferative neoplasm 10.0 PTPN11 HRAS
18 trachea carcinoma in situ 9.9 KRAS HRAS
19 common bile duct neoplasm 9.9 KRAS HRAS
20 ampulla of vater benign neoplasm 9.9 KRAS HRAS
21 bladder urachal carcinoma 9.9 KRAS HRAS
22 hepatic flexure cancer 9.9 KRAS HRAS
23 vaginal carcinosarcoma 9.9 KRAS HRAS
24 carcinosarcoma 9.9 KRAS HRAS
25 heart septal defect 9.9 SHOC2 PTPN11
26 urachus cancer 9.9 KRAS HRAS
27 adenosquamous lung carcinoma 9.9 KRAS HRAS
28 descending colon cancer 9.9 KRAS HRAS
29 mucinous intrahepatic cholangiocarcinoma 9.9 KRAS HRAS
30 intrahepatic cholangiocarcinoma 9.9 KRAS HRAS
31 sigmoid neoplasm 9.9 KRAS HRAS
32 appendiceal neoplasm 9.9 KRAS HRAS
33 pancreatic mucinous cystadenoma 9.9 KRAS HRAS
34 acneiform dermatitis 9.9 KRAS HRAS
35 transverse colon cancer 9.9 KRAS HRAS
36 liver angiosarcoma 9.9 KRAS HRAS
37 ascending colon cancer 9.9 KRAS HRAS
38 mucinous lung adenocarcinoma 9.9 KRAS HRAS
39 cystadenofibroma 9.9 KRAS HRAS
40 endosalpingiosis 9.9 KRAS HRAS
41 ovarian mucinous neoplasm 9.9 KRAS HRAS
42 appendix adenocarcinoma 9.9 KRAS HRAS
43 large cell carcinoma 9.9 KRAS HRAS
44 large cell carcinoma with rhabdoid phenotype 9.9 KRAS HRAS
45 pancreatic signet ring cell adenocarcinoma 9.9 KRAS HRAS
46 signet ring cell adenocarcinoma 9.9 KRAS HRAS
47 cecum adenocarcinoma 9.9 KRAS HRAS
48 biliary tract benign neoplasm 9.9 KRAS HRAS
49 periampullary adenocarcinoma 9.9 KRAS HRAS
50 pancreatic acinar cell 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:

30 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 deep palmar crease 30 Occasional (7.5%) HP:0006191
2 hypoplasia of the corpus callosum 30 Occasional (7.5%) HP:0002079
3 intellectual disability 30 Very rare (1%) HP:0001249
4 failure to thrive 30 Very rare (1%) HP:0001508
5 ptosis 30 Very rare (1%) HP:0000508
6 high palate 30 Very rare (1%) HP:0000218
7 short neck 30 Very rare (1%) HP:0000470
8 global developmental delay 30 Very rare (1%) HP:0001263
9 inguinal hernia 30 Very rare (1%) HP:0000023
10 hypertelorism 30 Very rare (1%) HP:0000316
11 short stature 30 Very rare (1%) HP:0004322
12 ichthyosis 30 Very rare (1%) HP:0008064
13 prominent forehead 30 Very rare (1%) HP:0011220
14 hyperkeratosis 30 Very rare (1%) HP:0000962
15 strabismus 30 Very rare (1%) HP:0000486
16 cryptorchidism 30 Very rare (1%) HP:0000028
17 attention deficit hyperactivity disorder 30 Very rare (1%) HP:0007018
18 cubitus valgus 30 Very rare (1%) HP:0002967
19 low-set ears 30 Very rare (1%) HP:0000369
20 webbed neck 30 Very rare (1%) HP:0000465
21 epicanthus 30 Very rare (1%) HP:0000286
22 myopia 30 Very rare (1%) HP:0000545
23 atrial septal defect 30 Very rare (1%) HP:0001631
24 hypertrophic cardiomyopathy 30 Very rare (1%) HP:0001639
25 joint laxity 30 Very rare (1%) HP:0001388
26 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
27 polyhydramnios 30 Very rare (1%) HP:0001561
28 sparse scalp hair 30 Very rare (1%) HP:0002209
29 nasal speech 30 Very rare (1%) HP:0001611
30 ventricular septal defect 30 Very rare (1%) HP:0001629
31 broad forehead 30 Very rare (1%) HP:0000337
32 hoarse voice 30 Very rare (1%) HP:0001609
33 pulmonic stenosis 30 Very rare (1%) HP:0001642
34 hemangioma 30 Very rare (1%) HP:0001028
35 eczema 30 Very rare (1%) HP:0000964
36 hyperextensible skin 30 Very rare (1%) HP:0000974
37 abnormality of coagulation 30 Very rare (1%) HP:0001928
38 multiple lentigines 30 Very rare (1%) HP:0001003
39 large for gestational age 30 Very rare (1%) HP:0001520
40 long eyelashes 30 Very rare (1%) HP:0000527
41 astigmatism 30 Very rare (1%) HP:0000483
42 feeding difficulties 30 Very rare (1%) HP:0011968
43 keratosis pilaris 30 Very rare (1%) HP:0032152
44 posteriorly rotated ears 30 Very rare (1%) HP:0000358
45 relative macrocephaly 30 Very rare (1%) HP:0004482
46 cafe-au-lait spot 30 Very rare (1%) HP:0000957
47 aortic regurgitation 30 Very rare (1%) HP:0001659
48 generalized hypotonia 30 Very rare (1%) HP:0001290
49 duplicated collecting system 30 Very rare (1%) HP:0000081
50 curly hair 30 Very rare (1%) HP:0002212

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
long eyelashes
downslanting palpebral fissures
more
Muscle Soft Tissue:
hypotonia

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

Neurologic Central Nervous System:
thin corpus callosum
mental retardation
delayed independent walking
decreased white matter volume
vertical tentorium
more
Growth Weight:
increased birth weight

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomalies

Growth Other:
failure to thrive

Head And Neck Neck:
short neck
webbed neck

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

Voice:
hypernasal voice

Endocrine Features:
low or absent growth hormone

Clinical features from OMIM®:

607721 (Updated 08-Dec-2022)

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

25
# 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.46 HRAS KRAS PTPN11 SHOC2
2 respiratory system MP:0005388 9.26 HRAS KRAS PTPN11 SHOC2
3 integument MP:0010771 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 28 SHOC2

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

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

MalaCards : Skin, Brain

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 28)
# Title Authors PMID Year
1
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 62 57 5
31059601 2019
2
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. 57 5
30348783 2018
3
A Novel SHOC2 Variant in Rasopathy. 57 5
25137548 2014
4
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. 57 5
23918763 2013
5
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 57 5
22528146 2012
6
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 57 5
20882035 2010
7
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 57 5
19684605 2009
8
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
9
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 57
28211982 2017
10
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. 5
25563136 2015
11
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 5
24458596 2014
12
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 5
24458587 2014
13
RE(ACT)®: INTERNATIONAL CONGRESS ON RESEARCH ON RARE AND ORPHAN DISEASES. 5
22670144 2012
14
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 5
21548061 2011
15
Noonan-like syndrome with loose anagen hair: a new syndrome? 57
12673660 2003
16
Loose anagen hair. 57
9301585 1997
17
Loose anagen hair in a child with Noonan's syndrome. 57
1884862 1991
18
Central nervous system involvement in individuals with RASopathies. 62
36454176 2022
19
Shoc2 controls ERK1/2-driven neural crest development by balancing components of the extracellular matrix. 62
36265687 2022
20
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. 62
35348676 2022
21
Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. 62
35338599 2022
22
Nodular Sclerosing Hodgkin Lymphoma Combined with Disseminated Talaromyces marneffei Infection: A Case Report. 62
34992393 2021
23
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. 62
30240112 2018
24
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. 62
29737035 2018
25
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling. 62
27466182 2016
26
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma. 62
25846317 2015
27
Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair. 62
25858597 2015
28
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). 62
24124081 2013

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:

5 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHOC2 NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr) INDEL Pathogenic
973849 rs1848064627 GRCh37: 10:112745489-112745490
GRCh38: 10:110985731-110985732
2 SHOC2 NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) SNV Pathogenic
Pathogenic
6821 rs267607048 GRCh37: 10:112724120-112724120
GRCh38: 10:110964362-110964362
3 SHOC2 NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) SNV Pathogenic
181528 rs730881020 GRCh37: 10:112724635-112724635
GRCh38: 10:110964877-110964877
4 SHOC2 NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg) SNV Likely Pathogenic
1339314 GRCh37: 10:112724273-112724273
GRCh38: 10:110964515-110964515
5 SHOC2 NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) SNV Likely Pathogenic
218698 rs864309599 GRCh37: 10:112745488-112745488
GRCh38: 10:110985730-110985730
6 SHOC2 NM_007373.4(SHOC2):c.517A>G (p.Met173Val) SNV Likely Pathogenic
Conflicting Interpretations Of Pathogenicity
373090 rs1057518206 GRCh37: 10:112724633-112724633
GRCh38: 10:110964875-110964875
7 SHOC2 NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) SNV Conflicting Interpretations Of Pathogenicity
976139 rs995403413 GRCh37: 10:112769487-112769487
GRCh38: 10:111009729-111009729
8 SHOC2 NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) SNV Uncertain Significance
181527 rs147068827 GRCh37: 10:112724471-112724471
GRCh38: 10:110964713-110964713
9 SHOC2 NM_007373.3(SHOC2):c.-346T>G SNV Uncertain Significance
880483 rs1203298501 GRCh37: 10:112679304-112679304
GRCh38: 10:110919546-110919546
10 SHOC2 NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) SNV Uncertain Significance
179760 rs536611911 GRCh37: 10:112724286-112724286
GRCh38: 10:110964528-110964528
11 SHOC2 NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) SNV Uncertain Significance
40637 rs730881019 GRCh37: 10:112724190-112724190
GRCh38: 10:110964432-110964432
12 SHOC2 NM_007373.4(SHOC2):c.1422+9_1422+11del DEL Uncertain Significance
298864 rs750754038 GRCh37: 10:112769150-112769152
GRCh38: 10:111009392-111009394
13 SHOC2 NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) SNV Uncertain Significance
1696502 GRCh37: 10:112745415-112745415
GRCh38: 10:110985657-110985657
14 SHOC2 NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs) INDEL Uncertain Significance
1030214 rs1847643137 GRCh37: 10:112724622-112724623
GRCh38: 10:110964864-110964865
15 SHOC2 NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile) SNV Uncertain Significance
1030215 rs1848065186 GRCh37: 10:112745518-112745518
GRCh38: 10:110985760-110985760
16 SHOC2 NM_007373.4(SHOC2):c.*685C>T SNV Uncertain Significance
879705 rs749942762 GRCh37: 10:112772261-112772261
GRCh38: 10:111012503-111012503
17 SHOC2 NM_007373.4(SHOC2):c.*825G>A SNV Uncertain Significance
879706 rs921664394 GRCh37: 10:112772401-112772401
GRCh38: 10:111012643-111012643
18 SHOC2 NM_007373.4(SHOC2):c.-264A>T SNV Uncertain Significance
880484 rs1367943420 GRCh37: 10:112679386-112679386
GRCh38: 10:110919628-110919628
19 SHOC2 NM_007373.4(SHOC2):c.-259G>A SNV Uncertain Significance
880485 rs138612584 GRCh37: 10:112679391-112679391
GRCh38: 10:110919633-110919633
20 SHOC2 NM_007373.4(SHOC2):c.1284+15G>A SNV Uncertain Significance
298863 rs770745229 GRCh37: 10:112767426-112767426
GRCh38: 10:111007668-111007668
21 SHOC2 NM_007373.4(SHOC2):c.*404A>G SNV Uncertain Significance
298866 rs539394184 GRCh37: 10:112771980-112771980
GRCh38: 10:111012222-111012222
22 SHOC2 NM_007373.4(SHOC2):c.*1486dup DUP Uncertain Significance
298883 rs549502834 GRCh37: 10:112773061-112773062
GRCh38: 10:111013303-111013304
23 SHOC2 NM_007373.4(SHOC2):c.*614T>G SNV Uncertain Significance
298869 rs886046732 GRCh37: 10:112772190-112772190
GRCh38: 10:111012432-111012432
24 SHOC2 NM_007373.4(SHOC2):c.774A>G (p.Gly258=) SNV Uncertain Significance
298862 rs753237615 GRCh37: 10:112745456-112745456
GRCh38: 10:110985698-110985698
25 SHOC2 NM_007373.4(SHOC2):c.*958C>A SNV Uncertain Significance
298875 rs372493479 GRCh37: 10:112772534-112772534
GRCh38: 10:111012776-111012776
26 SHOC2 NM_007373.4(SHOC2):c.*1218C>T SNV Uncertain Significance
298878 rs886046735 GRCh37: 10:112772794-112772794
GRCh38: 10:111013036-111013036
27 SHOC2 NM_007373.4(SHOC2):c.*1324G>A SNV Uncertain Significance
298881 rs559572636 GRCh37: 10:112772900-112772900
GRCh38: 10:111013142-111013142
28 SHOC2 NM_007373.4(SHOC2):c.*1575A>G SNV Uncertain Significance
298887 rs886046736 GRCh37: 10:112773151-112773151
GRCh38: 10:111013393-111013393
29 SHOC2 NM_007373.4(SHOC2):c.701T>C (p.Ile234Thr) SNV Uncertain Significance
298860 rs751292868 GRCh37: 10:112724817-112724817
GRCh38: 10:110965059-110965059
30 SHOC2 NM_007373.4(SHOC2):c.*625del DEL Uncertain Significance
298870 rs886046733 GRCh37: 10:112772192-112772192
GRCh38: 10:111012434-111012434
31 SHOC2 NM_007373.4(SHOC2):c.*1245T>C SNV Uncertain Significance
298879 rs754913685 GRCh37: 10:112772821-112772821
GRCh38: 10:111013063-111013063
32 SHOC2 NM_007373.4(SHOC2):c.*1487G>T SNV Uncertain Significance
298885 rs7074770 GRCh37: 10:112773063-112773063
GRCh38: 10:111013305-111013305
33 SHOC2 NM_007373.4(SHOC2):c.-254C>T SNV Uncertain Significance
298859 rs886046728 GRCh37: 10:112679396-112679396
GRCh38: 10:110919638-110919638
34 SHOC2 NM_007373.4(SHOC2):c.*656C>G SNV Uncertain Significance
298871 rs557334390 GRCh37: 10:112772232-112772232
GRCh38: 10:111012474-111012474
35 SHOC2 NM_007373.4(SHOC2):c.*518T>C SNV Uncertain Significance
298868 rs886046731 GRCh37: 10:112772094-112772094
GRCh38: 10:111012336-111012336
36 SHOC2 NM_007373.4(SHOC2):c.-244G>T SNV Uncertain Significance
139105 rs192673935 GRCh37: 10:112679406-112679406
GRCh38: 10:110919648-110919648
37 SHOC2 NM_007373.4(SHOC2):c.-235+15A>G SNV Uncertain Significance
877713 rs1309762163 GRCh37: 10:112679430-112679430
GRCh38: 10:110919672-110919672
38 SHOC2 NM_007373.4(SHOC2):c.-114C>G SNV Uncertain Significance
40633 rs1057217316 GRCh37: 10:112724003-112724003
GRCh38: 10:110964245-110964245
39 SHOC2 NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr) SNV Uncertain Significance
496406 rs1381863749 GRCh37: 10:112724148-112724148
GRCh38: 10:110964390-110964390
40 SHOC2 NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg) SNV Uncertain Significance
877714 rs1847632082 GRCh37: 10:112724172-112724172
GRCh38: 10:110964414-110964414
41 SHOC2 NM_007373.4(SHOC2):c.*979C>T SNV Uncertain Significance
877760 rs994617323 GRCh37: 10:112772555-112772555
GRCh38: 10:111012797-111012797
42 SHOC2 NM_007373.4(SHOC2):c.*990T>G SNV Uncertain Significance
877761 rs1274288913 GRCh37: 10:112772566-112772566
GRCh38: 10:111012808-111012808
43 SHOC2 NM_007373.4(SHOC2):c.*1269A>G SNV Uncertain Significance
877762 rs772654155 GRCh37: 10:112772845-112772845
GRCh38: 10:111013087-111013087
44 SHOC2 NM_007373.4(SHOC2):c.*1381G>C SNV Uncertain Significance
878792 rs997392575 GRCh37: 10:112772957-112772957
GRCh38: 10:111013199-111013199
45 SHOC2 NM_007373.4(SHOC2):c.*1508G>T SNV Uncertain Significance
878793 rs202206864 GRCh37: 10:112773084-112773084
GRCh38: 10:111013326-111013326
46 SHOC2 NM_007373.4(SHOC2):c.*1775del DEL Likely Benign
298888 rs527775221 GRCh37: 10:112773342-112773342
GRCh38: 10:111013584-111013584
47 SHOC2 NM_007373.4(SHOC2):c.*506_*509del DEL Likely Benign
298867 rs371679867 GRCh37: 10:112772082-112772085
GRCh38: 10:111012324-111012327
48 SHOC2 NM_007373.4(SHOC2):c.*1062dup DUP Likely Benign
298876 rs530047047 GRCh37: 10:112772637-112772638
GRCh38: 10:111012879-111012880
49 SHOC2 NM_007373.4(SHOC2):c.703+15ATT[3] MICROSAT Likely Benign
298861 rs370351651 GRCh37: 10:112724834-112724836
GRCh38: 10:110965076-110965078
50 SHOC2 NM_007373.4(SHOC2):c.1215A>G (p.Val405=) SNV Likely Benign
878756 rs749123957 GRCh37: 10:112767342-112767342
GRCh38: 10:111007584-111007584

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

73
# 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 81)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 SHOC2 PTPN11 KRAS HRAS
2 13.46 SHOC2 PTPN11 KRAS HRAS
3
Show member pathways
13.03 SHOC2 PTPN11 KRAS HRAS
4
Show member pathways
12.67 HRAS KRAS PTPN11
5
Show member pathways
12.63 PTPN11 KRAS HRAS
6 12.61 PTPN11 KRAS HRAS
7
Show member pathways
12.49 PTPN11 KRAS HRAS
8
Show member pathways
12.44 PTPN11 KRAS HRAS
9
Show member pathways
12.44 SHOC2 KRAS HRAS
10
Show member pathways
12.4 PTPN11 KRAS HRAS
11
Show member pathways
12.4 PTPN11 KRAS HRAS
12
Show member pathways
12.35 PTPN11 KRAS HRAS
13
Show member pathways
12.34 PTPN11 KRAS HRAS
14
Show member pathways
12.31 PTPN11 KRAS HRAS
15
Show member pathways
12.2 PTPN11 KRAS HRAS
16
Show member pathways
12.15 PTPN11 KRAS HRAS
17
Show member pathways
12.13 HRAS KRAS PTPN11
18
Show member pathways
12.11 PTPN11 KRAS HRAS
19
Show member pathways
12.11 PTPN11 KRAS HRAS
20
Show member pathways
12.03 PTPN11 KRAS HRAS
21
Show member pathways
11.97 PTPN11 KRAS HRAS
22
Show member pathways
11.89 PTPN11 KRAS HRAS
23
Show member pathways
11.85 KRAS HRAS
24
Show member pathways
11.85 PTPN11 KRAS
25 11.85 KRAS HRAS
26
Show member pathways
11.84 KRAS HRAS
27
Show member pathways
11.82 PTPN11 HRAS
28
Show member pathways
11.81 SHOC2 KRAS HRAS
29
Show member pathways
11.8 KRAS HRAS
30
Show member pathways
11.8 KRAS HRAS
31
Show member pathways
11.77 KRAS HRAS
32
Show member pathways
11.77 KRAS HRAS
33
Show member pathways
11.77 HRAS KRAS PTPN11
34 11.75 HRAS KRAS
35
Show member pathways
11.73 PTPN11 HRAS
36
Show member pathways
11.69 KRAS HRAS
37
Show member pathways
11.63 KRAS HRAS
38
Show member pathways
11.63 KRAS HRAS
39
Show member pathways
11.63 KRAS HRAS
40 11.63 PTPN11 KRAS HRAS
41
Show member pathways
11.62 PTPN11 HRAS
42
Show member pathways
11.61 KRAS HRAS
43 11.59 KRAS HRAS
44 11.58 PTPN11 HRAS
45
Show member pathways
11.54 PTPN11 KRAS HRAS
46 11.52 SHOC2 PTPN11 KRAS HRAS
47
Show member pathways
11.51 KRAS HRAS
48
Show member pathways
11.5 KRAS HRAS
49
Show member pathways
11.49 PTPN11 KRAS HRAS
50
Show member pathways
11.47 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 fibroblast growth factor receptor signaling pathway GO:0008543 9.56 SHOC2 PTPN11
2 homeostasis of number of cells within a tissue GO:0048873 9.46 PTPN11 KRAS
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.26 KRAS HRAS
4 Ras protein signal transduction GO:0007265 9.1 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 G protein activity GO:0003925 9.26 KRAS HRAS
2 protein serine/threonine kinase activator activity GO:0043539 9.16 KRAS HRAS
3 protein-membrane adaptor activity GO:0043495 8.62 KRAS HRAS

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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