Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Eye diseases Cardiovascular diseases Skin diseases

See all MalaCards categories (disease lists)

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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.

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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:

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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	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

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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

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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

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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

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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	Motta M...De Luca A	31059601	2019
2	SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. ⁵⁷ ⁵	Young LC...Rodriguez-Viciana P	30348783	2018
3	A Novel SHOC2 Variant in Rasopathy. ⁵⁷ ⁵	Hannig V...Galperin E	25137548	2014
4	Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. ⁵⁷ ⁵	Gripp KW...Sol-Church K	23918763	2013
5	Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. ⁵⁷ ⁵	Hoban R...Shephard B	22528146	2012
6	Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. ⁵⁷ ⁵	Komatsuzaki S...Matsubara Y	20882035	2010
7	Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. ⁵⁷ ⁵	Cordeddu V...Tartaglia M	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	Marinakis NM...Traeger-Synodinos J	34008892	2021
9	The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. ⁵⁷	Bertola D...Kim C	28211982	2017
10	Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. ⁵	Choi JH...Yoo HW	25563136	2015
11	Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. ⁵	Zmolikova M...Krepelova A	24458596	2014
12	Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. ⁵	Gargano G...Garavelli L	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	Ekvall S...Bondeson ML	21548061	2011
15	Noonan-like syndrome with loose anagen hair: a new syndrome? ⁵⁷	Mazzanti L...Forabosco A	12673660	2003
16	Loose anagen hair. ⁵⁷	Tosti A...Fanti PA	9301585	1997
17	Loose anagen hair in a child with Noonan's syndrome. ⁵⁷	Tosti A...Patrizi A	1884862	1991
18	Central nervous system involvement in individuals with RASopathies. ⁶²	Weaver KN...Gripp KW	36454176	2022
19	Shoc2 controls ERK1/2-driven neural crest development by balancing components of the extracellular matrix. ⁶²	Norcross RG...Galperin E	36265687	2022
20	Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. ⁶²	Motta M...Tartaglia M	35348676	2022
21	Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. ⁶²	Maruwaka K...Kurahashi H	35338599	2022
22	Nodular Sclerosing Hodgkin Lymphoma Combined with Disseminated Talaromyces marneffei Infection: A Case Report. ⁶²	Yang Z...Zhang J	34992393	2021
23	Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. ⁶²	Couser NL...Aylsworth AS	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	Uehara T...Kosaki K	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	Motta M...Tartaglia M	27466182	2016
26	Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma. ⁶²	Garavelli L...Tartaglia M	25846317	2015
27	Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair. ⁶²	Lo FS...Lee NC	25858597	2015
28	GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome). ⁶²	Mazzanti L...Tartaglia M	24124081	2013

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

Genes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	1348.77	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	19684605 20882035 21548061 (more) 22528146 23918763 24458587 24458596 25137548 25563136 30348783 31059601 34008892 22670144
2	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	4.1	DISEASES inferred ¹⁴
3	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	3.17	DISEASES inferred ¹⁴
4	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3.04	DISEASES inferred ¹⁴

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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

Sources

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.

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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	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.48	SHOC2 PTPN11 KRAS HRAS
2	Signal Transduction ⁶⁶	13.46	SHOC2 PTPN11 KRAS HRAS
3	RAF/MAP kinase cascade ⁶⁶ Show member pathways Diseases of signal transduction by growth factor receptors and second messengers ⁶⁶ MAPK family signaling cascades ⁶⁶ MAPK1/MAPK3 signaling ⁶⁶	13.03	SHOC2 PTPN11 KRAS HRAS
4	Downstream signaling of activated FGFR2 ⁶⁶ Show member pathways Activated NTRK2 signals through CDK5 ⁶⁶ Activated NTRK2 signals through FRS2 and FRS3 ⁶⁶ Activated NTRK2 signals through FYN ⁶⁶ Activated NTRK2 signals through PI3K ⁶⁶ Activated NTRK2 signals through PLCG1 ⁶⁶ Activated NTRK2 signals through RAS ⁶⁶ Activated point mutants of FGFR2 ⁶⁶ BDNF activates NTRK2 (TRKB) signaling ⁶⁶ betaKlotho-mediated ligand binding ⁶⁶ Downstream signaling of activated FGFR1 ⁶⁶ Downstream signaling of activated FGFR3 ⁶⁶ Downstream signaling of activated FGFR4 ⁶⁶ FGFR2c ligand binding and activation ⁶⁶ FGFR4 ligand binding and activation ⁶⁶ FGFR4 mutant receptor activation ⁶⁶ FRS-mediated FGFR1 signaling ⁶⁶ FRS-mediated FGFR2 signaling ⁶⁶ FRS-mediated FGFR3 signaling ⁶⁶ FRS-mediated FGFR4 signaling ⁶⁶ Inhibition of Ribosome Biogenesis by p19(ARF) ⁶⁴ NTF3 activates NTRK2 (TRKB) signaling ⁶⁶ NTF4 activates NTRK2 (TRKB) signaling ⁶⁶ NTRK2 activates RAC1 ⁶⁶ Phospholipase C-mediated cascade: FGFR1 ⁶⁶ Phospholipase C-mediated cascade; FGFR2 ⁶⁶ Phospholipase C-mediated cascade; FGFR3 ⁶⁶ Phospholipase C-mediated cascade; FGFR4 ⁶⁶ PI-3K cascade:FGFR1 ⁶⁶ PI-3K cascade:FGFR2 ⁶⁶ PI-3K cascade:FGFR3 ⁶⁶ PI-3K cascade:FGFR4 ⁶⁶ SHC-mediated cascade:FGFR1 ⁶⁶ SHC-mediated cascade:FGFR2 ⁶⁶ SHC-mediated cascade:FGFR3 ⁶⁶ SHC-mediated cascade:FGFR4 ⁶⁶ Signaling by FGFR3 in disease ⁶⁶ Signaling by FGFR4 in disease ⁶⁶ Signaling by NTRK2 (TRKB) ⁶⁶	12.67	HRAS KRAS PTPN11
5	IL-9 Signaling Pathways ⁶⁵ Show member pathways Adipocytokines and Insulin Signaling ⁶⁵ Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁵ Development Thrombopoietin-regulated cell processes ²² IL-15 Signaling Pathways ⁶⁵ IL-2 Signaling Pathways ⁶⁵ IL-21 Signaling Pathways ⁶⁵ IL-4 Pathway ⁶⁴ IL-4 Signaling Pathways ⁶⁵ IL-7 Signaling Pathways ⁶⁵ IL-9 Pathway ⁶⁴ Immune response IL-9 signaling pathway ²² Interleukin-9 signaling ⁶⁶	12.63	PTPN11 KRAS HRAS
6	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.61	PTPN11 KRAS HRAS
7	Insulin receptor signalling cascade ⁶⁶ Show member pathways Glucose homeostasis ⁷⁴ IGF1R signaling cascade ⁶⁶ IRS activation ⁶⁶ IRS-mediated signalling ⁶⁶ IRS-related events triggered by IGF1R ⁶⁶ PI3K Cascade ⁶⁶ SHC-related events triggered by IGF1R ⁶⁶ Signal attenuation ⁶⁶ Signaling by Insulin receptor ⁶⁶ Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) ⁶⁶ SOS-mediated signalling ⁶⁶	12.49	PTPN11 KRAS HRAS
8	CNTF Signaling ⁶⁴ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁶ FLT3 Signaling ⁶⁴ G-protein signaling Ras family GTPases in kinase cascades (scheme) ²² Host-pathogen interaction of human coronaviruses - MAPK signaling ⁷⁴ IL-3 Pathway ⁶⁴ Immune response Oncostatin M signaling via MAPK in human cells ²² Inhibition of exosome biogenesis and secretion by Manumycin A in CRPC cells ⁷⁴ MAPK cascade ⁷⁴ Nur77-Induced AICD in Macrophage ⁶⁴ OSM Pathway ⁶⁴	12.44	PTPN11 KRAS HRAS
9	Signaling downstream of RAS mutants ⁶⁶ Show member pathways MAP2K and MAPK activation ⁶⁶ Negative regulation of MAPK pathway ⁶⁶ Paradoxical activation of RAF signaling by kinase inactive BRAF ⁶⁶ RAF activation ⁶⁶ Signaling by high-kinase activity BRAF mutants ⁶⁶ Signaling by moderate kinase activity BRAF mutants ⁶⁶ Signaling by RAF1 mutants ⁶⁶ Signaling by RAS mutants ⁶⁶	12.44	SHOC2 KRAS HRAS
10	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.4	PTPN11 KRAS HRAS
11	IL-1 Family Signaling Pathways ⁶⁵ Show member pathways IL1 signaling pathway ⁶⁷ Immune response IL-1 signaling pathway ²² Interleukin-1 (IL-1) structural pathway ⁷⁴ Interleukin-33 signaling ⁶⁶ Interleukin-36 pathway ⁶⁶ Mucin expression in CF via TLRs, EGFR signaling pathways ²² Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.4	PTPN11 KRAS HRAS
12	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ⁶¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ⁶¹ Immune response IL-10 signaling pathway ²² RAC1/PAK1/p38/MMP2 pathway ⁷⁴	12.35	PTPN11 KRAS HRAS
13	Negative regulation of FGFR1 signaling ⁶⁶ Show member pathways FGFR1 ligand binding and activation ⁶⁶ FGFR1b ligand binding and activation ⁶⁶ FGFR1c and Klotho ligand binding and activation ⁶⁶ FGFR1c ligand binding and activation ⁶⁶ FGFRL1 modulation of FGFR1 signaling ⁶⁶ Negative regulation of FGFR2 signaling ⁶⁶ Negative regulation of FGFR3 signaling ⁶⁶ Negative regulation of FGFR4 signaling ⁶⁶ Signaling by activated point mutants of FGFR1 ⁶⁶ Signaling by FGFR1 ⁶⁶ Signaling by FGFR1 amplification mutants ⁶⁶ Signaling by FGFR3 ⁶⁶ Signaling by FGFR4 ⁶⁶ Spry regulation of FGF signaling ⁶⁶	12.34	PTPN11 KRAS HRAS
14	Signaling by NTRKs ⁶⁶ Show member pathways Activated NTRK3 signals through PI3K ⁶⁶ Activated NTRK3 signals through PLCG1 ⁶⁶ Activated NTRK3 signals through RAS ⁶⁶ Activation of TRKA receptors ⁶⁶ NGF-independant TRKA activation ⁶⁶ NTF3 activates NTRK3 signaling ⁶⁶ NTRK3 as a dependence receptor ⁶⁶ PI3K/AKT activation ⁶⁶ Retrograde neurotrophin signalling ⁶⁶ Signaling by NTRK1 (TRKA) ⁶⁶ Signaling by NTRK3 (TRKC) ⁶⁶	12.31	PTPN11 KRAS HRAS
15	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.2	PTPN11 KRAS HRAS
16	MET promotes cell motility ⁶⁶ Show member pathways Beta1 integrin cell surface interactions ⁶¹ MET activates PTK2 signaling ⁶⁶ MET activates RAP1 and RAC1 ⁶⁶ MET activates RAS signaling ⁶⁶ MET interacts with TNS proteins ⁶⁶ MET Receptor Activation ⁶⁶ MET receptor recycling ⁶⁶ Signaling by MET ⁶⁶	12.15	PTPN11 KRAS HRAS
17	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²² Extra-nuclear estrogen signaling ⁶⁶	12.13	HRAS KRAS PTPN11
18	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	12.11	PTPN11 KRAS HRAS
19	Development FGFR signaling pathway ²² Show member pathways Development FGF-family signaling ²² Development Flt3 signaling ²² FGF Pathway ⁶⁴	12.11	PTPN11 KRAS HRAS
20	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.03	PTPN11 KRAS HRAS
21	Signaling by FGFR2 ⁶⁶ Show member pathways FGFR2 ligand binding and activation ⁶⁶ FGFR2b ligand binding and activation ⁶⁶ Signaling by FGFR ⁶⁶	11.97	PTPN11 KRAS HRAS
22	Cell surface interactions at the vascular wall ⁶⁶ Show member pathways Fibronectin matrix formation ⁶⁶ PECAM1 interactions ⁶⁶ Tie2 Signaling ⁶⁶	11.89	PTPN11 KRAS HRAS
23	Signaling by ERBB2 ⁶⁶ Show member pathways Downregulation of ERBB2 signaling ⁶⁶ Downregulation of ERBB2:ERBB3 signaling ⁶⁶ ERBB2 Activates PTK6 Signaling ⁶⁶ ERBB2 Regulates Cell Motility ⁶⁶ GRB7 events in ERBB2 signaling ⁶⁶	11.85	KRAS HRAS
24	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.85	PTPN11 KRAS
25	G12-G13 in Cellular Signaling ⁶⁴	11.85	KRAS HRAS
26	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	11.84	KRAS HRAS
27	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	11.82	PTPN11 HRAS
28	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF1 fusions ⁶⁶	11.81	SHOC2 KRAS HRAS
29	Thermogenesis ⁷⁴ Show member pathways mitochondrial L-carnitine shuttle ⁶¹	11.8	KRAS HRAS
30	Development EGFR signaling via small GTPases ²² Show member pathways Development EGFR signaling via PIP3 ²² Development PDGF signaling via MAPK cascades ²²	11.8	KRAS HRAS
31	Signalling to ERKs ⁶⁶ Show member pathways ARMS-mediated activation ⁶⁶ Frs2-mediated activation ⁶⁶ p38MAPK events ⁶⁶ Prolonged ERK activation events ⁶⁶ Signalling to p38 via RIT and RIN ⁶⁶ Signalling to RAS ⁶⁶	11.77	KRAS HRAS
32	NCAM signaling for neurite out-growth ⁶⁶ Show member pathways NCAM1 interactions ⁶⁶	11.77	KRAS HRAS
33	FLT3 signaling in disease ⁶⁶ Show member pathways FLT3 Signaling ⁶⁶ FLT3 signaling by CBL mutants ⁶⁶ FLT3 signaling through SRC family kinases ⁶⁶ Negative regulation of FLT3 ⁶⁶ Signaling by FLT3 fusion proteins ⁶⁶ Signaling by FLT3 ITD and TKD mutants ⁶⁶ STAT5 Activation ⁶⁶ STAT5 activation downstream of FLT3 ITD mutants ⁶⁶	11.77	HRAS KRAS PTPN11
34	DNA damage response (only ATM dependent) ⁷⁴	11.75	HRAS KRAS
35	Immune response IL-2 activation and signaling pathway ²² Show member pathways IL-2 signaling pathway ⁷⁴ Immune response IL-3 activation and signaling pathway ²²	11.73	PTPN11 HRAS
36	FGFR1 mutant receptor activation ⁶⁶ Show member pathways Signaling by cytosolic FGFR1 fusion mutants ⁶⁶ Signaling by FGFR1 in disease ⁶⁶ Signaling by plasma membrane FGFR1 fusions ⁶⁶	11.69	KRAS HRAS
37	VEGF Pathway (Tocris) ⁷⁰ Show member pathways Sorafenib Pharmacodynamics ⁶⁰	11.63	KRAS HRAS
38	mTOR Pathway ⁷⁰ Show member pathways TGF-beta Pathway ⁷⁰	11.63	KRAS HRAS
39	FCERI mediated Ca+2 mobilization ⁶⁶ Show member pathways CLEC7A (Dectin-1) induces NFAT activation ⁶⁶ FCERI mediated MAPK activation ⁶⁶	11.63	KRAS HRAS
40	Gastrin signaling pathway ⁷⁴	11.63	PTPN11 KRAS HRAS
41	RET signaling ⁶⁶ Show member pathways Signaling events regulated by Ret tyrosine kinase ⁶¹	11.62	PTPN11 HRAS
42	DAP12 interactions ⁶⁶ Show member pathways DAP12 signaling ⁶⁶	11.61	KRAS HRAS
43	Head and neck squamous cell carcinoma ⁷⁴	11.59	KRAS HRAS
44	Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ⁶¹	11.58	PTPN11 HRAS
45	Signaling by SCF-KIT ⁶⁶ Show member pathways Regulation of KIT signaling ⁶⁶ Signaling by KIT in disease ⁶⁶ Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants ⁶⁶	11.54	PTPN11 KRAS HRAS
46	Ras signaling ⁷⁴	11.52	SHOC2 PTPN11 KRAS HRAS
47	Serotonin HTR1 group and FOS pathway ⁷⁴ Show member pathways Serotonin receptor 2 and ELK-SRF/GATA4 signaling ⁷⁴ Serotonin receptor 4/6/7 and NR3C signaling ⁷⁴	11.51	KRAS HRAS
48	BDNF-TrkB signaling ⁷⁴ Show member pathways Synaptic signaling pathways associated with autism spectrum disorder ⁷⁴	11.5	KRAS HRAS
49	Signaling by EGFR ⁶⁶ Show member pathways EGFR downregulation ⁶⁶ GAB1 signalosome ⁶⁶	11.49	PTPN11 KRAS HRAS
50	CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling ⁶⁶ Show member pathways Ras activation upon Ca2+ influx through NMDA receptor ⁶⁶ RSK activation ⁶⁶	11.47	KRAS HRAS

Sources

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

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

¹ BitterDB

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³ Cell Signaling Technology

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⁹ dbSNP

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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

Aliases & Classifications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

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Inheritance:

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

Expression 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:

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:

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

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