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
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Aliases & Classifications for Aarskog-Scott Syndrome

Sources:
¹¹Disease Ontology, ¹²diseasecard, ¹³DISEASES, ²⁴GeneTests, ²⁵Genetics Home Reference, ²⁷GTR, ³⁰ICD10, ³¹ICD10 via Orphanet, ³⁷MedGen, ³⁹MeSH, ⁴⁸NIH Rare Diseases, ⁵⁰Novoseek, ⁵²OMIM, ⁵⁴Orphanet, ⁶²SNOMED-CT, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁶⁹UMLS via Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome ⁵² ¹¹ ²⁴ ²⁵ ⁵⁴ ⁷⁰ ¹²

Aarskog Syndrome ¹¹ ⁴⁸ ²⁴ ²⁵ ⁵⁴ ⁵⁰ ³⁹ ¹³ ⁶⁸

Faciogenital Dysplasia ¹¹ ⁴⁸ ²⁴ ²⁵ ⁵⁴ ⁷⁰

Faciodigitogenital Syndrome ⁴⁸ ²⁴ ⁵⁴ ⁷⁰

Aarskog Disease ⁴⁸ ²⁷

Aas ²⁵ ⁷⁰

Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder ⁷⁰

Facio-Digito-Genital Dysplasia ²⁵

Scott Aarskog Syndrome ⁴⁸

Aarskog Scott Syndrome ⁴⁸

Greig's Syndrome ¹¹

Fgdy ⁴⁸

Characteristics:

Orphanet epidemiological data:

⁵⁴

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

HPO:

⁶⁴

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: ³¹ ³⁰

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: ⁵⁴

Rare neurological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM⁵² 305400

Disease Ontology¹¹ DOID:6683

ICD10³⁰ Q87.1

MeSH³⁹ C535331, D001289

SNOMED-CT⁶² 14921002, 205809002

Orphanet⁵⁴ ORPHA915

UMLS via Orphanet⁶⁹ C0175701

ICD10 via Orphanet³¹ Q87.1

MedGen³⁷ C0175701, C1844569, C3275558 CN069557, more

UMLS⁶⁸ C0175701

Summaries for Aarskog-Scott Syndrome

Sources:
¹¹Disease Ontology, ²⁵Genetics Home Reference, ³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

OMIM:⁵² 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 Array, Array and Array. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways are Nectin adhesion pathway and Adherens junction. Affiliated tissues include heart, skin and endothelial.

Disease Ontology:¹¹ 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:⁴⁸ 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:⁷⁰ 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.

Related Diseases for Aarskog-Scott Syndrome

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

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	sveinsson choreoretinal atrophy	10.9
11	7q11.23 duplication syndrome	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	attention deficit-hyperactivity disorder	10.1
19	arthropathy	10.1
20	myopathy	10.1
21	cerebrovascular disease	10.1
22	polymicrogyria	10.1
23	endotheliitis	10.1
24	unilateral focal polymicrogyria	10.1
25	trichothiodystrophy 2, photosensitive	10.0	CDC42, MCF2
26	arthritis	9.9
27	rheumatoid arthritis	9.8
28	al amyloidosis	9.8
29	spastic paraplegia 26, autosomal recessive	9.8	CDC42, FGD4
30	leukemia	9.7
31	isolated growth hormone deficiency	9.7
32	spastic hemiplegia	9.7
33	hemiplegia	9.7
34	growth hormone deficiency	9.7
35	metatarsus adductus	9.7
36	spasticity	9.7
37	prostatitis	9.7
38	prostate cancer	9.6
39	pulmonary hypertension	9.6
40	lymphoma	9.6
41	sarcoma	9.6
42	nephrotic syndrome	9.6
43	dermatitis	9.6
44	cerebritis	9.6
45	obesity	9.6
46	alopecia	9.6
47	arteriovenous malformation	9.6
48	atopic dermatitis	9.6
49	myositis	9.6
50	thyroiditis	9.6

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

Symptoms & Phenotypes for Aarskog-Scott Syndrome

Sources:
⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

Symptoms by clinical synopsis from OMIM:

305400

Clinical features from OMIM:

305400

Human phenotypes related to Aarskog-Scott Syndrome:

⁵⁴ ⁶⁴ (show all 71)

id	Description	Orphanet Frequency	HPO Source Accession
1	inguinal hernia⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000023
2	cryptorchidism⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000028
3	shawl scrotum⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000049
4	abnormality of the teeth⁵⁴	Occasional (29-5%)
5	cleft palate⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000175
6	oral cleft⁵⁴	Occasional (29-5%)
7	cleft upper lip⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000204
8	everted lower lip vermilion⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000232
9	epicanthus⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000286
10	round face⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000311
11	hypertelorism⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000316
12	hypoplasia of the maxilla⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000327
13	broad forehead⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000337
14	long philtrum⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000343
15	low-set, posteriorly rotated ears⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000368
16	wide nasal bridge⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000431
17	anteverted nares⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000463
18	short neck⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000470
19	megalocornea⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000485
20	strabismus⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000486
21	downslanted palpebral fissures⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000494
22	ptosis⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000508
23	delayed eruption of teeth⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000684
24	behavioral abnormality⁵⁴	Occasional (29-5%)
25	pectus excavatum⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000767
26	single transverse palmar crease⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0000954
27	hyperextensible skin⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0000974
28	broad palm⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0001169
29	umbilical hernia⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0001537
30	congestive heart failure⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0001635
31	pes planus⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0001763
32	broad foot⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0001769
33	short foot⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0001773
34	talipes⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0001883
35	malformation of the heart and great vessels⁵⁴	Occasional (29-5%)
36	genu recurvatum⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0002816
37	abnormality of the cervical spine⁵⁴	Occasional (29-5%)
38	clinodactyly of the 5th finger⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0004209
39	short palm⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0004279
40	short stature⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0004322
41	abnormal vertebral segmentation and fusion⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0005640
42	joint hyperflexibility⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0005692
43	finger syndactyly⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0006101
44	attention deficit hyperactivity disorder⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0007018
45	external ear malformation⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0008572
46	high anterior hairline⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0009890
47	camptodactyly of finger⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0100490
48	cognitive impairment⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0100543
49	small hand⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0200055
50	broad philtrum⁶⁴		HP:0000289
51	widow's peak⁶⁴		HP:0000349
52	hypermetropia⁶⁴		HP:0000540
53	hypodontia⁶⁴		HP:0000668
54	delayed puberty⁶⁴		HP:0000823
55	brachydactyly syndrome⁶⁴		HP:0001156
56	syndactyly⁶⁴		HP:0001159
57	hyperextensibility of the finger joints⁶⁴		HP:0001187
58	intellectual disability⁶⁴		HP:0001249
59	failure to thrive⁶⁴		HP:0001508
60	prominent umbilicus⁶⁴		HP:0001544
61	curved linear dimple below the lower lip⁶⁴		HP:0002055
62	scoliosis⁶⁴		HP:0002650
63	short nose⁶⁴		HP:0003196
64	hypoplasia of the odontoid process⁶⁴		HP:0003311
65	cervical spine hypermobility⁶⁴		HP:0003318
66	mild short stature⁶⁴		HP:0003502
67	radial deviation of finger⁶⁴		HP:0009466
68	large earlobe⁶⁴		HP:0009748
69	increased upper to lower segment ratio⁶⁴		HP:0012774
70	clinodactyly⁶⁴		HP:0030084
71	abnormality of cardiovascular system morphology⁶⁴		HP:0030680

Drugs & Therapeutics for Aarskog-Scott Syndrome

Sources:
¹BitterDB, ⁴ClinicalTrials, ⁷Cochrane Library, ¹⁰DGIdb, ¹⁴DrugBank, ²⁹HMDB, ³³IUPHAR, ⁴⁶NDF-RT, ⁵⁰Novoseek, ⁵⁶PharmGKB, ⁶⁸UMLS
See all MalaCards sources

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			3
2	Astragalus	Nutraceutical		55

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

Genetic Tests for Aarskog-Scott Syndrome

Sources:
²⁴GeneTests, ²⁷GTR
See all MalaCards sources

Genetic tests related to Aarskog-Scott Syndrome:

id	Genetic test	Affiliating Genes
1	Aarskog Syndrome²⁷ ²⁴	FGD1

Anatomical Context for Aarskog-Scott Syndrome

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

³⁶

Heart, Skin, Endothelial

Publications for Aarskog-Scott Syndrome

Sources:
⁵⁷PubMed
See all MalaCards sources

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

Genes related to Aarskog-Scott Syndrome

Sources:
⁵Clinvar, ¹³DISEASES, ²¹GeneCards, ²⁴GeneTests, ⁵⁰Novoseek, ⁵²OMIM, ⁵⁴Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

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	1724.50	Molecular basis known ⁵² Pathogenic ⁵ Causative germline mutation ⁵⁴ Causative variation ⁷⁰ Genetic Tests ²⁴ DISEASES inferred ¹³ Novoseek inferred ⁵⁰ 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 ¹³ GeneCards inferred via : Disorders (show sections)
3	CDC42	Cell Division Cycle 42	26.25	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
4	MCF2	MCF.2 Cell Line Derived Transforming Sequence	25.92	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
5	FGD4	FYVE, RhoGEF And PH Domain Containing 4	24.93	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
6	FAM120C	Family With Sequence Similarity 120C	24.89	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
7	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	24.81	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)

Variations for Aarskog-Scott Syndrome

Sources:
⁵Clinvar, ⁹dbSNP, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

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

⁷⁰

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:

⁵ (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)	SNV	Pathogenic	rs28935497	GRCh37	Chr X, 54482666: 54482666
3	FGD1	NM_ 004463.2(FGD1): c.1565G> A (p.Arg522His)	SNV	Pathogenic	rs137853264	GRCh37	Chr 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)	SNV	Pathogenic	rs137853265	GRCh37	Chr X, 54494334: 54494334
7	FGD1	FGD1, 1-BP DEL, 2189A	deletion	Pathogenic
8	FGD1	NM_ 004463.2(FGD1): c.1328G> T (p.Arg443Leu)	SNV	Pathogenic	rs137853266	GRCh37	Chr X, 54494229: 54494229
9	FGD1	FGD1, 1-BP INS, 945C	insertion	Pathogenic
10	FGD1	NM_ 004463.2(FGD1): c.1396A> G (p.Met466Val)	SNV	Pathogenic	rs137853267	GRCh37	Chr X, 54492230: 54492230
11	FGD1	NM_ 004463.2(FGD1): c.2016-2A> G	SNV	Pathogenic	rs794727099	GRCh37	Chr X, 54476736: 54476736
12	FGD1	NM_ 004463.2(FGD1): c.527dupC (p.Leu177Thrfs)	duplication	Pathogenic	rs756586058	GRCh37	Chr X, 54497148: 54497148
13	FGD1	NM_ 004463.2(FGD1): c.1966C> T (p.Arg656Ter)	SNV	Pathogenic	rs387906718	GRCh37	Chr X, 54481930: 54481930
14	FGD1	NM_ 004463.2(FGD1): c.527delC (p.Pro176Hisfs)	deletion	Pathogenic	rs780428919	GRCh38	Chr X, 54470715: 54470715
15	FGD1	NM_ 004463.2(FGD1): c.1287T> G (p.Tyr429Ter)	SNV	Pathogenic	rs398124155	GRCh37	Chr X, 54494270: 54494270
16	FGD1	NM_ 004463.2(FGD1): c.1468C> T (p.Gln490Ter)	SNV	Pathogenic	rs398124156	GRCh37	Chr X, 54492158: 54492158
17	FGD1	NM_ 004463.2(FGD1): c.175C> T (p.Gln59Ter)	SNV	Pathogenic	rs398124160	GRCh37	Chr X, 54521691: 54521691
18	FGD1	NM_ 004463.2(FGD1): c.2112_ 2113insTT (p.Asn705Leufs)	insertion	Pathogenic	rs398124161	GRCh37	Chr X, 54476127: 54476128
19	FGD1	NM_ 004463.2(FGD1): c.2135dupC (p.Pro713Thrfs)	duplication	Pathogenic	rs398124162	GRCh37	Chr X, 54476105: 54476105

Expression for genes affiliated with Aarskog-Scott Syndrome

Sources:
¹⁸Gene Expression Omnibus DataSets
See all MalaCards sources

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

Pathways for genes affiliated with Aarskog-Scott Syndrome

Sources:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁶⁰Reactome, ⁶⁵Thomson Reuters
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Nectin adhesion pathway⁴²	9.5	CDC42, FARP2
2	Adherens junction³⁴	9.5	CDC42, FARP2
3	Regulation of actin cytoskeleton³⁴ ⁴² Show member pathways Regulation of Actin Cytoskeleton⁴²	9.2	CDC42, FGD1, FGD3
4	Regulation of CDC42 activity⁴²	8.6	CDC42, FARP2, FGD1, MCF2
5	G-protein signaling_Regulation of CDC42 activity⁶⁵	8.5	CDC42, FGD1, FGD4, MCF2
6	Signaling by Rho GTPases⁶⁰ Show member pathways RHO GTPase Effectors⁶⁰	8.1	CDC42, FGD1, FGD3, FGD4, MCF2
7	p75 NTR receptor-mediated signalling⁶⁰ Show member pathways Rho GTPase cycle⁶⁰ Cell death signalling via NRAGE, NRIF and NADE⁶⁰ NRAGE signals death through JNK⁶⁰ G alpha (12/13) signalling events⁶⁰ Axonal growth inhibition (RHOA activation)⁶⁰ p75NTR regulates axonogenesis⁶⁰ Regulated proteolysis of p75NTR⁶⁰ p75NTR signals via NF-kB⁶⁰ p75NTR recruits signalling complexes⁶⁰ NRIF signals cell death from the nucleus⁶⁰ NF-kB is activated and signals survival⁶⁰ Axonal growth stimulation⁶⁰ NADE modulates death signalling⁶⁰ p75NTR negatively regulates cell cycle via SC1⁶⁰	8.1	CDC42, FGD1, FGD3, FGD4, MCF2

GO Terms for genes affiliated with Aarskog-Scott Syndrome

Sources:
¹⁹Gene Ontology
See all MalaCards sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	filopodium	GO:0030175	10.0	CDC42, FGD4
2	lamellipodium	GO:0030027	9.6	FGD1, FGD3, FGD4
3	ruffle	GO:0001726	9.1	FGD1, FGD3, FGD4
4	cytoskeleton	GO:0005856	8.4	CDC42, FARP2, FGD1, FGD3, FGD4, MCF2
5	cytosol	GO:0005829	8.2	CDC42, FARP2, FGD1, FGD3, FGD4, MCF2

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

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton organization	GO:0007010	9.8	FGD1, FGD3, FGD4
2	regulation of cell shape	GO:0008360	9.7	FGD1, FGD3, FGD4
3	regulation of GTPase activity	GO:0043087	9.7	FGD1, FGD3, FGD4
4	actin cytoskeleton organization	GO:0030036	9.3	CDC42, FGD1, FGD3, FGD4
5	filopodium assembly	GO:0046847	9.3	CDC42, FGD1, FGD3, FGD4
6	positive regulation of apoptotic process	GO:0043065	9.3	FGD1, FGD3, FGD4, MCF2
7	positive regulation of GTPase activity	GO:0043547	8.7	FARP2, FGD1, FGD3, FGD4, MCF2
8	regulation of Rho protein signal transduction	GO:0035023	8.6	FARP2, FGD1, FGD3, FGD4, MCF2
9	regulation of small GTPase mediated signal transduction	GO:0051056	8.1	CDC42, FGD1, FGD3, FGD4, MCF2

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	9.1	FGD1, FGD3, FGD4, MCF2
2	small GTPase binding	GO:0031267	9.1	FGD1, FGD3, FGD4
3	Rho guanyl-nucleotide exchange factor activity	GO:0005089	8.4	FARP2, FGD1, FGD3, FGD4, MCF2