Aarskog-Scott Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AAS MCID: ARS001 MIFTS: 52	Aarskog-Scott Syndrome (AAS) malady Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Download Expand all tables

Sources

Aliases & Classifications for Aarskog-Scott Syndrome

Aliases & Descriptions for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome ⁵⁴ ¹² ²⁴ ²⁵ ⁵⁶ ⁶⁶ ¹³

Aarskog Syndrome ¹² ⁵⁰ ²⁴ ²⁵ ⁵⁶ ⁵² ⁴² ¹⁴ ⁶⁹

Faciogenital Dysplasia ¹² ⁵⁰ ²⁴ ²⁵ ⁵⁶ ⁶⁶

Faciodigitogenital Syndrome ⁵⁰ ²⁴ ⁵⁶ ⁶⁶

Aarskog Disease ⁵⁰ ²⁹

Aas ²⁵ ⁶⁶

Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder ⁶⁶

Facio-Digito-Genital Dysplasia ²⁵

Aarskog Scott Syndrome ⁵⁰

Scott Aarskog Syndrome ⁵⁰

Greig's Syndrome ¹²

Fgdy ⁵⁰

Characteristics:

Orphanet epidemiological data:

⁵⁶

aarskog-scott syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: any age;

HPO:

³²

aarskog-scott syndrome:
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁶

Rare neurological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁴ 305400

Disease Ontology ¹² DOID:6683

ICD10 ³³ Q87.1

MeSH ⁴² C535331 D001289

SNOMED-CT ⁶⁴ 14921002 205809002

Orphanet ⁵⁶ ORPHA915

UMLS via Orphanet ⁷⁰ C0175701

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴⁰ C0175701 C1844569 C3275558 more

UMLS ⁶⁹ C0175701

Sources

Summaries for Aarskog-Scott Syndrome

OMIM : ⁵⁴ Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature,... (305400) more...

MalaCards based summary : Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to amyloidosis aa and helsmoortel-van der aa syndrome, and has symptoms including hypertelorism, short neck and pectus excavatum. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways/superpathways are Signaling by Rho GTPases and p75 NTR receptor-mediated signalling. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and endothelial.

Disease Ontology : ¹² A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.

Genetics Home Reference : ²⁵ Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.

NIH Rare Diseases : ⁵⁰ aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. intellectual development may also be affected. about 20 percent of people with aarskog-scott syndrome have mutations in the fgd1 gene. the cause in other affected individuals is unknown. the condition is inherited in an x-linked recessive pattern. last updated: 9/7/2011

UniProtKB/Swiss-Prot : ⁶⁶ Aarskog-Scott syndrome: A rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.

Sources

Related Diseases for Aarskog-Scott Syndrome

Diseases related to Aarskog-Scott Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)

id	Related Disease	Score	Top Affiliating Genes
1	amyloidosis aa	12.2
2	helsmoortel-van der aa syndrome	12.1
3	faciodigitogenital syndrome, autosomal recessive	11.8
4	alopecia areata	11.7
5	adnp syndrome	11.4
6	aplastic anemia	11.1
7	hydrocephalus, sprengel anomaly, and costovertebral dysplasia	11.0
8	renal nutcracker syndrome	11.0
9	superior mesenteric artery syndrome	10.9
10	7q11.23 duplication syndrome	10.9
11	sveinsson choreoretinal atrophy	10.9
12	scott syndrome	10.8
13	greig cephalopolysyndactyly syndrome	10.8
14	amyloidosis, hereditary, transthyretin-related	10.8
15	chromosome 7q11.23 duplication syndrome	10.8
16	adnp-related intellectual disability and autism spectrum disorder	10.7
17	amyloidosis	10.4
18	polymicrogyria	10.1
19	endotheliitis	10.1
20	attention deficit-hyperactivity disorder	10.1
21	cerebrovascular disease	10.1
22	unilateral focal polymicrogyria	10.1
23	arthropathy	10.1
24	myopathy	10.1
25	trichothiodystrophy 2, photosensitive	10.0	CDC42 MCF2
26	arthritis	9.9
27	al amyloidosis	9.8
28	rheumatoid arthritis	9.8
29	spastic paraplegia 26, autosomal recessive	9.8	CDC42 FGD4
30	leukemia	9.7
31	spastic hemiplegia	9.7
32	hemiplegia	9.7
33	spasticity	9.7
34	isolated growth hormone deficiency	9.7
35	growth hormone deficiency	9.7
36	metatarsus adductus	9.7
37	prostatitis	9.7
38	dermatitis	9.6
39	sarcoma	9.6
40	nephrotic syndrome	9.6
41	cerebritis	9.6
42	lymphoma	9.6
43	prostate cancer	9.6
44	pulmonary hypertension	9.6
45	obesity	9.6
46	myositis	9.6
47	atopic dermatitis	9.6
48	arteriovenous malformation	9.6
49	thyroiditis	9.6
50	neuropathy	9.6

Graphical network of the top 20 diseases related to Aarskog-Scott Syndrome:

Sources

Symptoms & Phenotypes for Aarskog-Scott Syndrome

Symptoms by clinical synopsis from OMIM:

305400

Clinical features from OMIM:

305400

Human phenotypes related to Aarskog-Scott Syndrome:

⁵⁶ ³² (show top 50) (show all 71)

id	Description	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁶ ³²	Very frequent (99-80%)	HP:0000316
2	short neck ⁵⁶ ³²	Occasional (29-5%)	HP:0000470
3	pectus excavatum ⁵⁶ ³²	Occasional (29-5%)	HP:0000767
4	finger syndactyly ⁵⁶ ³²	Frequent (79-30%)	HP:0006101
5	ptosis ⁵⁶ ³²	Frequent (79-30%)	HP:0000508
6	inguinal hernia ⁵⁶ ³²	Frequent (79-30%)	HP:0000023
7	wide nasal bridge ⁵⁶ ³²	Frequent (79-30%)	HP:0000431
8	umbilical hernia ⁵⁶ ³²	Very frequent (99-80%)	HP:0001537
9	pes planus ⁵⁶ ³²	Occasional (29-5%)	HP:0001763
10	anteverted nares ⁵⁶ ³²	Frequent (79-30%)	HP:0000463
11	short stature ⁵⁶ ³²	Very frequent (99-80%)	HP:0004322
12	cognitive impairment ⁵⁶ ³²	Frequent (79-30%)	HP:0100543
13	cleft palate ⁵⁶ ³²	Occasional (29-5%)	HP:0000175
14	long philtrum ⁵⁶ ³²	Frequent (79-30%)	HP:0000343
15	strabismus ⁵⁶ ³²	Occasional (29-5%)	HP:0000486
16	delayed eruption of teeth ⁵⁶ ³²	Occasional (29-5%)	HP:0000684
17	short palm ⁵⁶ ³²	Very frequent (99-80%)	HP:0004279
18	joint hyperflexibility ⁵⁶ ³²	Frequent (79-30%)	HP:0005692
19	epicanthus ⁵⁶ ³²	Occasional (29-5%)	HP:0000286
20	megalocornea ⁵⁶ ³²	Occasional (29-5%)	HP:0000485
21	congestive heart failure ⁵⁶ ³²	Occasional (29-5%)	HP:0001635
22	short foot ⁵⁶ ³²	Very frequent (99-80%)	HP:0001773
23	everted lower lip vermilion ⁵⁶ ³²	Very frequent (99-80%)	HP:0000232
24	genu recurvatum ⁵⁶ ³²	Occasional (29-5%)	HP:0002816
25	cryptorchidism ⁵⁶ ³²	Frequent (79-30%)	HP:0000028
26	attention deficit hyperactivity disorder ⁵⁶ ³²	Occasional (29-5%)	HP:0007018
27	broad forehead ⁵⁶ ³²	Frequent (79-30%)	HP:0000337
28	clinodactyly of the 5th finger ⁵⁶ ³²	Frequent (79-30%)	HP:0004209
29	small hand ⁵⁶ ³²	Very frequent (99-80%)	HP:0200055
30	hypoplasia of the maxilla ⁵⁶ ³²	Occasional (29-5%)	HP:0000327
31	low-set, posteriorly rotated ears ⁵⁶ ³²	Frequent (79-30%)	HP:0000368
32	downslanted palpebral fissures ⁵⁶ ³²	Frequent (79-30%)	HP:0000494
33	round face ⁵⁶ ³²	Occasional (29-5%)	HP:0000311
34	camptodactyly of finger ⁵⁶ ³²	Very frequent (99-80%)	HP:0100490
35	external ear malformation ⁵⁶ ³²	Frequent (79-30%)	HP:0008572
36	cleft upper lip ⁵⁶ ³²	Occasional (29-5%)	HP:0000204
37	hyperextensible skin ⁵⁶ ³²	Frequent (79-30%)	HP:0000974
38	talipes ⁵⁶ ³²	Occasional (29-5%)	HP:0001883
39	broad foot ⁵⁶ ³²	Very frequent (99-80%)	HP:0001769
40	shawl scrotum ⁵⁶ ³²	Very frequent (99-80%)	HP:0000049
41	single transverse palmar crease ⁵⁶ ³²	Occasional (29-5%)	HP:0000954
42	broad palm ⁵⁶ ³²	Very frequent (99-80%)	HP:0001169
43	abnormal vertebral segmentation and fusion ⁵⁶ ³²	Occasional (29-5%)	HP:0005640
44	high anterior hairline ⁵⁶ ³²	Frequent (79-30%)	HP:0009890
45	clinodactyly ³²		HP:0030084
46	intellectual disability ³²		HP:0001249
47	failure to thrive ³²		HP:0001508
48	scoliosis ³²		HP:0002650
49	behavioral abnormality ⁵⁶	Occasional (29-5%)
50	abnormality of the teeth ⁵⁶	Occasional (29-5%)

Sources

Drugs & Therapeutics for Aarskog-Scott Syndrome

Drugs for Aarskog-Scott Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

id	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Neuroserpin
2	Astragalus	Nutraceutical

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Genetic Disease Gene Identification	Unknown status	NCT00916903

Search NIH Clinical Center for Aarskog-Scott Syndrome

Cochrane evidence based reviews: aarskog syndrome

Sources

Genetic Tests for Aarskog-Scott Syndrome

Genetic tests related to Aarskog-Scott Syndrome:

id	Genetic test	Affiliating Genes
1	Aarskog Syndrome ²⁹ ²⁴	FGD1

Sources

Anatomical Context for Aarskog-Scott Syndrome

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

³⁹

Heart, Skin, Endothelial

Sources

Publications for Aarskog-Scott Syndrome

Articles related to Aarskog-Scott Syndrome:

(show all 32)

id	Title	Authors	Year
1	A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )	Hamzeh A.R....Bastaki F.	2017
2	A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )	Griffin L.B....Keegan C.E.	2016
3	A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )	ParA+ltay E....A9zkan B.	2016
4	Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )	Trevizol A.P....Shiozawa P.	2015
5	Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )	PAcrez-Coria M....MartA-nez-de-Villarreal L.E.	2015
6	Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )	VAPlter C....Kress W.	2014
7	Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149 )	Orrico A....Fryns J.P.	2014
8	A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )	AltA+ncA+k A....BAPber E.	2013
9	Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )	Al-Semari A....Meyer B.F.	2013
10	Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )	Aten E....den Dunnen J.T.	2013
11	Aarskog-Scott syndrome. ( 23673187 )	Shanavas M....Sharif A.	2013
12	Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )	Ronce N....Raynaud M.	2012
13	Mania with Aarskog-Scott syndrome. ( 22565081 )	Nayak R.B....Pandurangi A.	2012
14	Aarskog-scott syndrome: a review and case report. ( 25206170 )	Closs L.Q....Vargas I.A.	2012
15	Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )	Pilozzi-Edmonds L....Alfares A.	2011
16	The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474 )	Daubon T....GAcnot E.	2011
17	Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )	Orrico A....Fryns J.P.	2011
18	Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )	Orrico A....Sorrentino V.	2010
19	First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )	Bedoyan J.K....Ahmad A.	2009
20	Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )	DiLuna M.L....Gunel M.	2007
21	Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1. ( 17847065 )	Bottani A....Conrad B.	2007
22	Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )	Orrico A....Sorrentino V.	2007
23	Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )	Kaname T....Naritomi K.	2006
24	Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )	Moraes S.G....Maciel-Guerra A.T.	2006
25	Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997 )	Orrico A....Sorrentino V.	2005
26	Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. ( 14560308 )	Orrico A....Sorrentino V.	2004
27	A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). ( 10930571 )	Orrico A....Sorrentino V.	2000
28	Sperm acrosome defects in a patient with Aarskog-Scott syndrome. ( 8985497 )	Meschede D....Nieschlag E.	1996
29	Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. ( 7810566 )	Stevenson R.E....Schwartz C.E.	1994
30	Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. ( 7954831 )	Pasteris N.G....Gorski J.L.	1994
31	The Aarskog-Scott syndrome in four brothers. ( 1227529 )	Archibald R.M....German J.	1975
32	Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. ( 1227568 )	Bartsocas C.S....Dimitriou J.K.	1975

Sources

Genes for Aarskog-Scott Syndrome

Genes related to Aarskog-Scott Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	FGD1	FYVE, RhoGEF And PH Domain Containing 1	1724.5	Molecular basis known ⁵⁴ Pathogenic ⁶ Causative germline mutation ⁵⁶ Causative variation ⁶⁶ Genetic Tests ²⁴ DISEASES inferred ¹⁴ Novoseek inferred ⁵² GeneCards inferred via : Disorders Publications Gene name Variants (show sections)	10906777 10458911 11093277 (more) 10721717 9268645 16353258 11940089
2	FGD3	FYVE, RhoGEF And PH Domain Containing 3	26.88	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
3	CDC42	Cell Division Cycle 42	26.25	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
4	MCF2	MCF.2 Cell Line Derived Transforming Sequence	25.92	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
5	FGD4	FYVE, RhoGEF And PH Domain Containing 4	24.93	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
6	FAM120C	Family With Sequence Similarity 120C	24.89	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	24.81	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)

Sources

Variations for Aarskog-Scott Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Aarskog-Scott Syndrome:

⁶⁶

id	Symbol	AA change	Variation ID	SNP ID
1	FGD1	p.Arg522His	VAR_015236	rs137853264
2	FGD1	p.Arg610Gln	VAR_015237	rs28935497
3	FGD1	p.Ser205Ile	VAR_019268
4	FGD1	p.Glu380Ala	VAR_019270
5	FGD1	p.Arg443His	VAR_019271

ClinVar genetic disease variations for Aarskog-Scott Syndrome:

⁶ (show all 19)

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FGD1	FGD1, 1-BP INS, 2122G	insertion	Pathogenic
2	FGD1	NM_004463.2(FGD1): c.1829G> A (p.Arg610Gln)	single nucleotide variant	Pathogenic	rs28935497	GRCh37	Chromosome X, 54482666: 54482666
3	FGD1	NM_004463.2(FGD1): c.1565G> A (p.Arg522His)	single nucleotide variant	Pathogenic	rs137853264	GRCh37	Chromosome X, 54491955: 54491955
4	FGD1	FGD1, EX9-12DEL	deletion	Pathogenic
5	FGD1	FGD1, 1-BP INS, 528C	insertion	Pathogenic
6	FGD1	NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln)	single nucleotide variant	Pathogenic	rs137853265	GRCh37	Chromosome X, 54494334: 54494334
7	FGD1	FGD1, 1-BP DEL, 2189A	deletion	Pathogenic
8	FGD1	NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu)	single nucleotide variant	Pathogenic	rs137853266	GRCh37	Chromosome X, 54494229: 54494229
9	FGD1	FGD1, 1-BP INS, 945C	insertion	Pathogenic
10	FGD1	NM_004463.2(FGD1): c.1396A> G (p.Met466Val)	single nucleotide variant	Pathogenic	rs137853267	GRCh37	Chromosome X, 54492230: 54492230
11	FGD1	NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter)	single nucleotide variant	Pathogenic	rs387906718	GRCh37	Chromosome X, 54481930: 54481930
12	FGD1	NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter)	single nucleotide variant	Pathogenic	rs398124155	GRCh37	Chromosome X, 54494270: 54494270
13	FGD1	NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter)	single nucleotide variant	Pathogenic	rs398124156	GRCh37	Chromosome X, 54492158: 54492158
14	FGD1	NM_004463.2(FGD1): c.175C> T (p.Gln59Ter)	single nucleotide variant	Pathogenic	rs398124160	GRCh37	Chromosome X, 54521691: 54521691
15	FGD1	NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs)	insertion	Pathogenic	rs398124161	GRCh37	Chromosome X, 54476127: 54476128
16	FGD1	NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs)	duplication	Pathogenic	rs398124162	GRCh37	Chromosome X, 54476105: 54476105
17	FGD1	NM_004463.2(FGD1): c.2016-2A> G	single nucleotide variant	Pathogenic	rs794727099	GRCh37	Chromosome X, 54476736: 54476736
18	FGD1	NM_004463.2(FGD1): c.527dupC (p.Leu177Thrfs)	duplication	Pathogenic	rs756586058	GRCh37	Chromosome X, 54497148: 54497148
19	FGD1	NM_004463.2(FGD1): c.527delC (p.Pro176Hisfs)	deletion	Pathogenic	rs780428919	GRCh38	Chromosome X, 54470715: 54470715

Sources

Expression for Aarskog-Scott Syndrome

Search GEO for disease gene expression data for Aarskog-Scott Syndrome.

Sources

Pathways for Aarskog-Scott Syndrome

Pathways related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	Signaling by Rho GTPases ⁶² Show member pathways RHO GTPase Effectors ⁶²	12.52	CDC42 FGD1 FGD3 FGD4 MCF2
2	p75 NTR receptor-mediated signalling ⁶² Show member pathways Axonal growth inhibition (RHOA activation) ⁶² Axonal growth stimulation ⁶² Cell death signalling via NRAGE, NRIF and NADE ⁶² G alpha (12/13) signalling events ⁶² NADE modulates death signalling ⁶² NF-kB is activated and signals survival ⁶² NRAGE signals death through JNK ⁶² NRIF signals cell death from the nucleus ⁶² p75NTR negatively regulates cell cycle via SC1 ⁶² p75NTR recruits signalling complexes ⁶² p75NTR regulates axonogenesis ⁶² p75NTR signals via NF-kB ⁶² Regulated proteolysis of p75NTR ⁶² Rho GTPase cycle ⁶²	12.32	CDC42 FGD1 FGD3 FGD4 MCF2
3	Regulation of actin cytoskeleton ³⁷ ¹	12.11	CDC42 FGD1 FGD3
4	Adherens junction ³⁷	11.26	CDC42 FARP2
5	G-protein signaling_Regulation of CDC42 activity ²¹	10.76	CDC42 FGD1 FGD4 MCF2
6	Nectin adhesion pathway ¹	10.72	CDC42 FARP2
7	Regulation of CDC42 activity ¹	10.4	CDC42 FARP2 FGD1 MCF2

Sources

GO Terms for Aarskog-Scott Syndrome

Cellular components related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	9.8	CDC42 FARP2 FGD1 FGD3 FGD4 MCF2
2	lamellipodium	GO:0030027	9.33	FGD1 FGD3 FGD4
3	filopodium	GO:0030175	9.26	CDC42 FGD4
4	ruffle	GO:0001726	9.13	FGD1 FGD3 FGD4
5	cytoskeleton	GO:0005856	9.1	CDC42 FARP2 FGD1 FGD3 FGD4 MCF2

Biological processes related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of GTPase activity	GO:0043547	9.72	FARP2 FGD1 FGD3 FGD4 MCF2
2	positive regulation of apoptotic process	GO:0043065	9.67	FGD1 FGD3 FGD4 MCF2
3	cytoskeleton organization	GO:0007010	9.63	FGD1 FGD3 FGD4
4	regulation of cell shape	GO:0008360	9.61	FGD1 FGD3 FGD4
5	regulation of GTPase activity	GO:0043087	9.58	FGD1 FGD3 FGD4
6	actin cytoskeleton organization	GO:0030036	9.56	CDC42 FGD1 FGD3 FGD4
7	regulation of small GTPase mediated signal transduction	GO:0051056	9.55	CDC42 FGD1 FGD3 FGD4 MCF2
8	regulation of Rho protein signal transduction	GO:0035023	9.35	FARP2 FGD1 FGD3 FGD4 MCF2
9	filopodium assembly	GO:0046847	8.92	CDC42 FGD1 FGD3 FGD4

Molecular functions related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	guanyl-nucleotide exchange factor activity	GO:0005085	9.46	FGD1 FGD3 FGD4 MCF2
2	small GTPase binding	GO:0031267	9.13	FGD1 FGD3 FGD4
3	Rho guanyl-nucleotide exchange factor activity	GO:0005089	9.02	FARP2 FGD1 FGD3 FGD4 MCF2

Sources

Sources for Aarskog-Scott Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ GeneTests

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MeSH

⁴³ MESH via Orphanet

⁴⁴ MGI

⁴⁵ NCBI Bookshelf

⁴⁶ NCI

⁴⁷ NCIt

⁴⁸ NDF-RT

⁴⁹ NIH Clinical Center

⁵⁰ NIH Rare Diseases

⁵¹ NINDS

⁵² Novoseek

⁵³ Novus Biologicals

⁵⁴ OMIM

⁵⁵ OMIM via Orphanet

⁵⁶ Orphanet

⁵⁷ PathCards

⁵⁸ PharmGKB

⁵⁹ PubMed

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via Orphanet

⁶⁶ UniProtKB/Swiss-Prot

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ Wikipedia

Aarskog-Scott Syndrome (AAS) malady

Aliases & Classifications for Aarskog-Scott Syndrome

Aliases & Descriptions for Aarskog-Scott Syndrome:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Aarskog-Scott Syndrome

Related Diseases for Aarskog-Scott Syndrome

Diseases related to Aarskog-Scott Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Aarskog-Scott Syndrome:

Symptoms & Phenotypes for Aarskog-Scott Syndrome

Symptoms by clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Aarskog-Scott Syndrome:

Drugs & Therapeutics for Aarskog-Scott Syndrome

Drugs for Aarskog-Scott Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: aarskog syndrome

Genetic Tests for Aarskog-Scott Syndrome

Genetic tests related to Aarskog-Scott Syndrome:

Anatomical Context for Aarskog-Scott Syndrome

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

Publications for Aarskog-Scott Syndrome

Articles related to Aarskog-Scott Syndrome:

Genes for Aarskog-Scott Syndrome

Genes related to Aarskog-Scott Syndrome (1 elite genes):

Variations for Aarskog-Scott Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Aarskog-Scott Syndrome:

ClinVar genetic disease variations for Aarskog-Scott Syndrome:

Expression for Aarskog-Scott Syndrome

Pathways for Aarskog-Scott Syndrome

Pathways related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

GO Terms for Aarskog-Scott Syndrome

Cellular components related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

Sources for Aarskog-Scott Syndrome