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

AAS MCID: ARS001 MIFTS: 56	Aarskog-Scott Syndrome (AAS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Aarskog-Scott Syndrome

MalaCards integrated aliases for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome ⁵⁸ ¹² ⁷⁷ ²⁶ ⁶⁰ ⁷⁶ ³⁸ ¹³

Aarskog Syndrome ¹² ⁷⁷ ⁵⁴ ²⁶ ⁶⁰ ³⁰ ⁵⁶ ⁶ ⁴⁵ ¹⁵ ⁷⁴

Faciogenital Dysplasia ⁵⁸ ¹² ⁵⁴ ²⁶ ⁶⁰ ⁷⁶

Faciodigitogenital Syndrome ⁵⁸ ⁵⁴ ²⁶ ⁶⁰ ⁷⁶

Fgdy ⁵⁸ ⁵⁴ ²⁶

Aas ⁵⁸ ²⁶ ⁷⁶

Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder ⁷⁶

Facio-Digito-Genital Dysplasia ²⁶

Faciogenital Dysplasia; Fgdy ⁵⁸

Aarskog Syndrome, X-Linked ⁵⁸

Aarskog-Scott Syndrome ) ⁴¹

Aarskog Scott Syndrome ⁵⁴

Scott Aarskog Syndrome ⁵⁴

Greig's Syndrome ¹²

Aarskog Disease ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

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;

OMIM:

⁵⁸

Inheritance:
x-linked recessive

Miscellaneous:
normal fertility

HPO:

³³

aarskog-scott syndrome:
Inheritance x-linked recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

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: ⁶⁰

Rare neurological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:6683

OMIM ⁵⁸ 305400

KEGG ³⁸ H00569

MeSH ⁴⁵ C535331 D001289

NCIt ⁵¹ C129720

SNOMED-CT ⁶⁹ 14921002

ICD10 ³⁴ Q87.1

ICD10 via Orphanet ³⁵ Q87.1

UMLS via Orphanet ⁷⁵ C0175701

Orphanet ⁶⁰ ORPHA915

MedGen ⁴³ C0175701 C1844569 C3275558 more

SNOMED-CT via HPO ⁷⁰ 111266001 111404004 11934000 more

UMLS ⁷⁴ C0175701

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Summaries for Aarskog-Scott Syndrome

OMIM : ⁵⁸ Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010). (305400)

MalaCards based summary : Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to scott syndrome and unilateral focal polymicrogyria. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways/superpathways are Regulation of actin cytoskeleton and Signaling by Rho GTPases. The drugs Astragalus and Neuroserpin have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and lung, and related phenotypes are hypertelorism and umbilical hernia

Genetics Home Reference : ²⁶ 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 : ⁵⁴ 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.

UniProtKB/Swiss-Prot : ⁷⁶ Aarskog-Scott syndrome: An X-linked recessive, 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.

Wikipedia : ⁷⁷ Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature,... more...

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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 296)

#	Related Disease	Score	Top Affiliating Genes
1	scott syndrome	31.5	ARHGEF2 FGD1
2	unilateral focal polymicrogyria	30.2	ARHGEF2 FGD1
3	amyloidosis aa	12.6
4	helsmoortel-van der aa syndrome	12.6
5	aarskog syndrome, autosomal dominant	12.4
6	faciodigitogenital syndrome, autosomal recessive	12.3
7	alopecia areata	12.1
8	adnp syndrome	11.9
9	williams-beuren region duplication syndrome	11.7
10	aplastic anemia	11.4
11	adnp-related intellectual disability and autism spectrum disorder	11.4
12	hydrocephalus, sprengel anomaly, and costovertebral dysplasia	11.3
13	renal nutcracker syndrome	11.3
14	sveinsson chorioretinal atrophy	11.3
15	superior mesenteric artery syndrome	11.2
16	7q11.23 duplication syndrome	11.2
17	amyloidosis, hereditary, transthyretin-related	11.1
18	amyloidosis	11.0
19	greig cephalopolysyndactyly syndrome	10.8
20	arthritis	10.5
21	rheumatoid arthritis	10.4
22	familial mediterranean fever	10.3
23	attention deficit-hyperactivity disorder	10.3
24	joint disorders	10.3
25	muscle disorders	10.3
26	pol iii-related leukodystrophies	10.3
27	scoliosis	10.3
28	arthropathy	10.3
29	myopathy	10.3
30	cerebrovascular disease	10.3
31	hypermobile ehlers-danlos syndrome	10.3
32	polymicrogyria	10.3
33	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	10.2
34	nephrotic syndrome	10.2
35	al amyloidosis	10.2
36	alopecia	10.1
37	hypertelorism	10.1
38	taqi polymorphism	10.1
39	alzheimer disease	10.1
40	prostate cancer	10.1
41	prostate cancer, hereditary, 8	10.1
42	prostate cancer, hereditary, 6	10.1
43	spondyloarthropathy 1	10.0
44	colorectal cancer	10.0
45	systemic lupus erythematosus	10.0
46	glomerulonephritis	10.0
47	spondylitis	10.0
48	lupus erythematosus	10.0
49	breast cancer	9.9
50	lymphoma	9.9

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

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Symptoms & Phenotypes for Aarskog-Scott Syndrome

Human phenotypes related to Aarskog-Scott Syndrome:

⁶⁰ ³³ (show top 50) (show all 74)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁶⁰ ³³	very rare (1%)	Very frequent (99-80%)	HP:0000316
2	umbilical hernia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001537
3	short stature ⁶⁰ ³³	very rare (1%)	Very frequent (99-80%)	HP:0004322
4	short palm ⁶⁰ ³³	very rare (1%)	Very frequent (99-80%)	HP:0004279
5	short foot ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001773
6	everted lower lip vermilion ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000232
7	small hand ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0200055
8	camptodactyly of finger ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0100490
9	broad foot ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001769
10	shawl scrotum ⁶⁰ ³³	very rare (1%)	Very frequent (99-80%)	HP:0000049
11	broad palm ⁶⁰ ³³	very rare (1%)	Very frequent (99-80%)	HP:0001169
12	finger syndactyly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0006101
13	ptosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000508
14	inguinal hernia ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0000023
15	wide nasal bridge ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000431
16	anteverted nares ⁶⁰ ³³	very rare (1%)	Frequent (79-30%)	HP:0000463
17	cognitive impairment ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0100543
18	long philtrum ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000343
19	joint hyperflexibility ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005692
20	cryptorchidism ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000028
21	external ear malformation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008572
22	broad forehead ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000337
23	clinodactyly of the 5th finger ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004209
24	low-set, posteriorly rotated ears ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000368
25	downslanted palpebral fissures ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000494
26	hyperextensible skin ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000974
27	high anterior hairline ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0009890
28	short neck ⁶⁰ ³³	very rare (1%)	Occasional (29-5%)	HP:0000470
29	pectus excavatum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000767
30	pes planus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001763
31	cleft palate ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000175
32	strabismus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000486
33	delayed eruption of teeth ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000684
34	epicanthus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000286
35	megalocornea ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000485
36	congestive heart failure ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001635
37	genu recurvatum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002816
38	attention deficit hyperactivity disorder ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0007018
39	hypoplasia of the maxilla ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000327
40	round face ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000311
41	cleft upper lip ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000204
42	talipes ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001883
43	single transverse palmar crease ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000954
44	abnormal vertebral segmentation and fusion ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0005640
45	abnormality of cardiovascular system morphology ³³	occasional (7.5%)		HP:0030680
46	global developmental delay ³³	very rare (1%)		HP:0001263
47	short nose ³³	very rare (1%)		HP:0003196
48	intellectual disability, mild ³³	very rare (1%)		HP:0001256
49	broad philtrum ³³	very rare (1%)		HP:0000289
50	short 5th finger ³³	very rare (1%)		HP:0009237

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
ptosis
strabismus
downslanting palpebral fissures
hyperopia

Skeletal Hands:
clinodactyly
brachydactyly
single transverse palmar crease
mild syndactyly
short, broad hands
more

Skeletal Spine:
scoliosis
cervical spine hypermobility
odontoid hypoplasia

Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Face:
round face
curved linear dimple below the lower lip
maxillary hypoplasia
wide philtrum

Neurologic Central Nervous System:
hyperactivity
attention deficit disorder
mental retardation (one-third)

Skin Nails Hair Skin:
single transverse palmar crease

Head And Neck Nose:
broad nasal bridge
anteverted nostrils
small, short nose

Head And Neck Ears:
fleshy earlobes

Skeletal Feet:
short broad feet

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Growth Other:
failure to thrive
delayed puberty
increased upper to lower segment ratio

Abdomen External Features:
inguinal hernia
prominent umbilicus

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Teeth:
hypodontia

Genitourinary External Genitalia Male:
shawl scrotum

Skin Nails Hair Hair:
widow's peak

Growth Height:
short stature, mild to moderate

Head And Neck Neck:
short neck with or without webbing

Clinical features from OMIM:

305400

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Drugs & Therapeutics for Aarskog-Scott Syndrome

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

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

Interventional clinical trials:

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

Search NIH Clinical Center for Aarskog-Scott Syndrome

Cochrane evidence based reviews: aarskog syndrome

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Genetic Tests for Aarskog-Scott Syndrome

Genetic tests related to Aarskog-Scott Syndrome:

#	Genetic test	Affiliating Genes
1	Aarskog Syndrome ³⁰	FGD1

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Anatomical Context for Aarskog-Scott Syndrome

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

⁴²

Heart, Kidney, Lung, Skin, Bone, Prostate, Liver

Sources

Publications for Aarskog-Scott Syndrome

Articles related to Aarskog-Scott Syndrome:

(show top 50) (show all 99)

#	Title	Authors	Year
1	Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature. ( 29689188 )	Depeyre A...Ferri J	2018
2	A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )	Hamzeh AR...Bastaki F	2017
3	Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322 )	Ge Y...Cai H	2017
4	Aarskog-Scott syndrome: An unusual cause of scoliosis. ( 29021683 )	Sariyilmaz K...Domanic U	2017
5	A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )	Par?ltay E...?zkan B	2016
6	A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )	Griffin LB...Keegan CE	2016
7	Identifying Aarskog Syndrome. ( 28209013 )	Ahmed A...Hasoon U	2016
8	Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015. ( 25227149 )	Orrico A...Fryns JP	2015
9	Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )	Trevizol AP...Shiozawa P	2015
10	Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )	P?rez-Coria M...Mart?nez-de-Villarreal LE	2015
11	Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome. ( 28663972 )	C?kla U...Ba?kaya MK	2015
12	Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )	V?lter C...Kress W	2014
13	Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )	Aten E...den Dunnen JT	2013
14	Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )	Al-Semari A...Meyer BF	2013
15	A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )	Alt?nc?k A...B?ber E	2013
16	Aarskog-Scott syndrome. ( 23673187 )	Shanavas M...Sharif A	2013
17	Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )	Ronce N...Raynaud M	2012
18	Mania with Aarskog-Scott syndrome. ( 22565081 )	Nayak RB...Pandurangi A	2012
19	Aarskog-scott syndrome: a review and case report. ( 25206170 )	Closs LQ...Vargas IA	2012
20	X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype. ( 22876573 )	Verhoeven WM...Hoogeboom AJ	2012
21	Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )	Orrico A...Fryns JP	2011
22	Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )	Pilozzi-Edmonds L...Alfares A	2011
23	The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor β-stimulated aortic endothelial cells. ( 21911474 )	Daubon T...G?not E	2011
24	Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )	Orrico A...Sorrentino V	2010
25	Familial syndrome resembling Aarskog syndrome. ( 20607856 )	Xu M...Yu Y	2010
26	First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )	Bedoyan JK...Ahmad A	2009
27	Aarskog syndrome: a case report and literature review. ( 18577494 )	Taub MB...Stanton A	2008
28	Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report. ( 18812898 )	Zielinski JA...Pack LL	2008
29	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
30	Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )	Diluna ML...Gunel M	2007
31	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
32	Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )	Kaname T...Naritomi K	2006
33	Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )	Moraes SG...Maciel-Guerra AT	2006
34	Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. ( 16353258 )	Shalev SA...Schwartz CE	2006
35	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
36	Aarskog syndrome with aortic root dilatation and sub-valvular aortic stenosis: surgical management. ( 17670353 )	Nouraei SM...Dunning J	2005
37	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
38	Orthodontic treatment of a case of Aarskog syndrome. ( 12739682 )	Batra P...Parkash H	2003
39	Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data. ( 14594174 )	Darendeliler F...KIGS International Board	2003
40	Aarskog syndrome. ( 11976476 )	Chaddha V...Phadke SR	2002
41	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
42	Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. ( 10721717 )	Pasteris NG...Gorski JL	2000
43	Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). ( 10906777 )	Gorski JL...Liu Z	2000
44	Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. ( 11093277 )	Schwartz CE...Neri G	2000
45	Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature. ( 10204459 )	Reddy P...Duggal R	1999
46	Brief report: autism and Aarskog syndrome. ( 10382140 )	Assumpcao F...Mercadante M	1999
47	The effect of growth hormone treatment on stature in Aarskog syndrome. ( 10392362 )	Petryk A...Blethen SL	1999
48	Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues. ( 10458911 )	Pasteris NG...Gorski JL	1999
49	Prenatal sonographic diagnosis of Aarskog syndrome. ( 10511304 )	Sepulveda W...Aracena M	1999
50	Intelligence and development in Aarskog syndrome. ( 9875050 )	Logie LJ...Porteous ME	1998

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Genes for Aarskog-Scott Syndrome

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FGD1	FYVE, RhoGEF And PH Domain Containing 1	Protein Coding	1720.33	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
2	FGD3	FYVE, RhoGEF And PH Domain Containing 3	Protein Coding	17.8	DISEASES inferred ¹⁵
3	ARHGEF2	Rho/Rac Guanine Nucleotide Exchange Factor 2	Protein Coding	17.44	GeneCards inferred via : Publications (show sections)
4	CDC42	Cell Division Cycle 42	Protein Coding	17.37	DISEASES inferred ¹⁵
5	MCF2	MCF.2 Cell Line Derived Transforming Sequence	Protein Coding	17.16	DISEASES inferred ¹⁵
6	FGD6	FYVE, RhoGEF And PH Domain Containing 6	Protein Coding	16.12	DISEASES inferred ¹⁵
7	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	Protein Coding	16.04	DISEASES inferred ¹⁵

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Variations for Aarskog-Scott Syndrome

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

⁷⁶

#	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 top 50) (show all 53)

#	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.1829G> A (p.Arg610Gln)	single nucleotide variant	Pathogenic	rs28935497	GRCh38	Chromosome X, 54456233: 54456233
4	FGD1	NM_004463.2(FGD1): c.1565G> A (p.Arg522His)	single nucleotide variant	Pathogenic	rs137853264	GRCh37	Chromosome X, 54491955: 54491955
5	FGD1	NM_004463.2(FGD1): c.1565G> A (p.Arg522His)	single nucleotide variant	Pathogenic	rs137853264	GRCh38	Chromosome X, 54465522: 54465522
6	FGD1	FGD1, EX9-12DEL	deletion	Pathogenic
7	FGD1	NM_004463.2(FGD1): c.935C> T (p.Pro312Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28935498	GRCh37	Chromosome X, 54496615: 54496615
8	FGD1	NM_004463.2(FGD1): c.935C> T (p.Pro312Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28935498	GRCh38	Chromosome X, 54470182: 54470182
9	FGD1	NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln)	single nucleotide variant	Pathogenic	rs137853265	GRCh37	Chromosome X, 54494334: 54494334
10	FGD1	NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln)	single nucleotide variant	Pathogenic	rs137853265	GRCh38	Chromosome X, 54467901: 54467901
11	FGD1	FGD1, 1-BP DEL, 2189A	deletion	Pathogenic
12	FGD1	NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu)	single nucleotide variant	Pathogenic	rs137853266	GRCh37	Chromosome X, 54494229: 54494229
13	FGD1	NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu)	single nucleotide variant	Pathogenic	rs137853266	GRCh38	Chromosome X, 54467796: 54467796
14	FGD1	NM_004463.3(FGD1): c.944dup (p.Ala316Cysfs)	duplication	Pathogenic		GRCh37	Chromosome X, 54496606: 54496606
15	FGD1	NM_004463.3(FGD1): c.944dup (p.Ala316Cysfs)	duplication	Pathogenic		GRCh38	Chromosome X, 54470173: 54470173
16	FGD1	NM_004463.2(FGD1): c.1396A> G (p.Met466Val)	single nucleotide variant	Pathogenic	rs137853267	GRCh37	Chromosome X, 54492230: 54492230
17	FGD1	NM_004463.2(FGD1): c.1396A> G (p.Met466Val)	single nucleotide variant	Pathogenic	rs137853267	GRCh38	Chromosome X, 54465797: 54465797
18	FGD1	NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter)	single nucleotide variant	Pathogenic	rs387906718	GRCh37	Chromosome X, 54481930: 54481930
19	FGD1	NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter)	single nucleotide variant	Pathogenic	rs387906718	GRCh38	Chromosome X, 54455497: 54455497
20	FGD1	NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter)	single nucleotide variant	Pathogenic	rs398124155	GRCh37	Chromosome X, 54494270: 54494270
21	FGD1	NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter)	single nucleotide variant	Pathogenic	rs398124155	GRCh38	Chromosome X, 54467837: 54467837
22	FGD1	NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter)	single nucleotide variant	Pathogenic	rs398124156	GRCh37	Chromosome X, 54492158: 54492158
23	FGD1	NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter)	single nucleotide variant	Pathogenic	rs398124156	GRCh38	Chromosome X, 54465725: 54465725
24	FGD1	NM_004463.2(FGD1): c.175C> T (p.Gln59Ter)	single nucleotide variant	Pathogenic	rs398124160	GRCh37	Chromosome X, 54521691: 54521691
25	FGD1	NM_004463.2(FGD1): c.175C> T (p.Gln59Ter)	single nucleotide variant	Pathogenic	rs398124160	GRCh38	Chromosome X, 54495258: 54495258
26	FGD1	NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs)	insertion	Pathogenic	rs398124161	GRCh37	Chromosome X, 54476127: 54476128
27	FGD1	NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs)	insertion	Pathogenic	rs398124161	GRCh38	Chromosome X, 54449694: 54449695
28	FGD1	NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs)	duplication	Pathogenic	rs398124162	GRCh37	Chromosome X, 54476105: 54476105
29	FGD1	NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs)	duplication	Pathogenic	rs398124162	GRCh38	Chromosome X, 54449672: 54449672
30	FGD1	NM_004463.2(FGD1): c.395G> A (p.Arg132Gln)	single nucleotide variant	Benign/Likely benign	rs145644275	GRCh37	Chromosome X, 54497833: 54497833
31	FGD1	NM_004463.2(FGD1): c.395G> A (p.Arg132Gln)	single nucleotide variant	Benign/Likely benign	rs145644275	GRCh38	Chromosome X, 54471400: 54471400
32	FGD1	NM_004463.2(FGD1): c.527dup (p.Leu177Thrfs)	duplication	Pathogenic/Likely pathogenic	rs756586058	GRCh37	Chromosome X, 54497148: 54497148
33	FGD1	NM_004463.2(FGD1): c.527dup (p.Leu177Thrfs)	duplication	Pathogenic/Likely pathogenic	rs756586058	GRCh38	Chromosome X, 54470715: 54470715
34	FGD1	NM_004463.2(FGD1): c.2761C> T (p.Arg921Ter)	single nucleotide variant	Uncertain significance	rs869312743	GRCh38	Chromosome X, 54446234: 54446234
35	FGD1	NM_004463.2(FGD1): c.2761C> T (p.Arg921Ter)	single nucleotide variant	Uncertain significance	rs869312743	GRCh37	Chromosome X, 54472667: 54472667
36	FGD1	NM_004463.2(FGD1): c.527delC (p.Pro176Hisfs)	deletion	Pathogenic	rs756586058	GRCh37	Chromosome X, 54497148: 54497148
37	FGD1	NM_004463.2(FGD1): c.527delC (p.Pro176Hisfs)	deletion	Pathogenic	rs756586058	GRCh38	Chromosome X, 54470715: 54470715
38	FGD1	NM_004463.2(FGD1): c.892dup (p.Cys298Leufs)	duplication	Likely pathogenic	rs1557189608	GRCh38	Chromosome X, 54470225: 54470225
39	FGD1	NM_004463.2(FGD1): c.892dup (p.Cys298Leufs)	duplication	Likely pathogenic	rs1557189608	GRCh37	Chromosome X, 54496658: 54496658
40	FGD1	NM_004463.2(FGD1): c.2728C> T (p.Arg910Ter)	single nucleotide variant	Likely pathogenic	rs1269514277	GRCh37	Chromosome X, 54472700: 54472700
41	FGD1	NM_004463.2(FGD1): c.2728C> T (p.Arg910Ter)	single nucleotide variant	Likely pathogenic	rs1269514277	GRCh38	Chromosome X, 54446267: 54446267
42	FGD1	NM_004463.2(FGD1): c.2006T> G (p.Leu669Arg)	single nucleotide variant	Uncertain significance	rs1557188473	GRCh37	Chromosome X, 54481890: 54481890
43	FGD1	NM_004463.2(FGD1): c.2006T> G (p.Leu669Arg)	single nucleotide variant	Uncertain significance	rs1557188473	GRCh38	Chromosome X, 54455457: 54455457
44	FGD1	NM_004463.2(FGD1): c.1733T> C (p.Leu578Ser)	single nucleotide variant	Uncertain significance	rs1557188567	GRCh37	Chromosome X, 54482762: 54482762
45	FGD1	NM_004463.2(FGD1): c.1733T> C (p.Leu578Ser)	single nucleotide variant	Uncertain significance	rs1557188567	GRCh38	Chromosome X, 54456329: 54456329
46	FGD1	NM_004463.2(FGD1): c.1445_1447dup (p.Asn482_Thr483insAsn)	duplication	Uncertain significance	rs1557189266	GRCh38	Chromosome X, 54465746: 54465748
47	FGD1	NM_004463.2(FGD1): c.1445_1447dup (p.Asn482_Thr483insAsn)	duplication	Uncertain significance	rs1557189266	GRCh37	Chromosome X, 54492179: 54492181
48	FGD1	NM_004463.2(FGD1): c.1241C> T (p.Pro414Leu)	single nucleotide variant	Likely pathogenic	rs1557189455	GRCh38	Chromosome X, 54467883: 54467883
49	FGD1	NM_004463.2(FGD1): c.1241C> T (p.Pro414Leu)	single nucleotide variant	Likely pathogenic	rs1557189455	GRCh37	Chromosome X, 54494316: 54494316
50	FGD1	NM_004463.2(FGD1): c.277_278insT (p.Tyr93Leufs)	insertion	Likely pathogenic	rs1557191567	GRCh38	Chromosome X, 54495155: 54495156

Sources

Expression for Aarskog-Scott Syndrome

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

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Pathways for Aarskog-Scott Syndrome

Pathways related to Aarskog-Scott Syndrome according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Regulation of actin cytoskeleton	hsa04810

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

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Rho GTPases ⁶⁷ Show member pathways RHO GTPase Effectors ⁶⁷	12.51	ARHGEF2 CDC42 FGD1 FGD3 MCF2
2	Actin Nucleation by ARP-WASP Complex ⁶⁵ Show member pathways Actin Nucleation and Branching ⁶⁵ CDC42 Pathway ⁶⁵ RhoA Pathway ⁶⁵	12.46	ARHGEF2 CDC42 FGD1 FGD3
3	p75 NTR receptor-mediated signalling ⁶⁷ Show member pathways Axonal growth inhibition (RHOA activation) ⁶⁷ Axonal growth stimulation ⁶⁷ Cell death signalling via NRAGE, NRIF and NADE ⁶⁷ G alpha (12/13) signalling events ⁶⁷ NADE modulates death signalling ⁶⁷ NF-kB is activated and signals survival ⁶⁷ NRAGE signals death through JNK ⁶⁷ NRIF signals cell death from the nucleus ⁶⁷ p75NTR negatively regulates cell cycle via SC1 ⁶⁷ p75NTR recruits signalling complexes ⁶⁷ p75NTR regulates axonogenesis ⁶⁷ p75NTR signals via NF-kB ⁶⁷ Regulated proteolysis of p75NTR ⁶⁷ Rho GTPase cycle ⁶⁷	12.31	ARHGEF2 CDC42 FGD1 FGD3 MCF2
4	Regulation of actin cytoskeleton ³⁸ ¹	12.24	CDC42 FGD1 FGD3
5	Cytoskeletal Signaling ⁴	12.1	ARHGEF2 CDC42 MCF2
6	Guidance Cues and Growth Cone Motility ⁶⁵	11.59	ARHGEF2 CDC42
7	Adherens junction ³⁸	11.37	CDC42 FARP2
8	Signaling by Slit ⁶⁵	11.16	ARHGEF2 CDC42
9	Regulation of RhoA activity ¹	11.12	ARHGEF2 MCF2
10	Regulation of RAC1 activity ¹	11	ARHGEF2 MCF2
11	Nectin adhesion pathway ¹	10.77	CDC42 FARP2
12	G-protein signaling_Regulation of CDC42 activity ²³	10.64	CDC42 FGD1 MCF2
13	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:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:0005829	9.85	ARHGEF2 CDC42 FARP2 FGD1 FGD3 MCF2
2	cytoplasm	GO:0005737	9.8	ARHGEF2 CDC42 FARP2 FGD1 FGD3 FGD6
3	Golgi apparatus	GO:0005794	9.62	ARHGEF2 FGD1 FGD3 FGD6
4	lamellipodium	GO:0030027	9.33	FGD1 FGD3 FGD6
5	cytoskeleton	GO:0005856	9.17	ARHGEF2 CDC42 FARP2 FGD1 FGD3 FGD6
6	ruffle	GO:0001726	9.13	FGD1 FGD3 FGD6

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

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled receptor signaling pathway	GO:0007186	9.76	ARHGEF2 FGD1 FGD3 MCF2
2	positive regulation of apoptotic process	GO:0043065	9.67	ARHGEF2 FGD1 FGD3 MCF2
3	actin cytoskeleton organization	GO:0030036	9.62	CDC42 FGD1 FGD3 FGD6
4	cytoskeleton organization	GO:0007010	9.61	FGD1 FGD3 FGD6
5	regulation of GTPase activity	GO:0043087	9.58	FGD1 FGD3 FGD6
6	regulation of cell shape	GO:0008360	9.56	CDC42 FGD1 FGD3 FGD6
7	actin filament organization	GO:0007015	9.48	ARHGEF2 CDC42
8	regulation of small GTPase mediated signal transduction	GO:0051056	9.35	ARHGEF2 CDC42 FGD1 FGD3 MCF2
9	filopodium assembly	GO:0046847	9.33	FGD1 FGD3 FGD6
10	regulation of Rho protein signal transduction	GO:0035023	9.1	ARHGEF2 FARP2 FGD1 FGD3 FGD6 MCF2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	small GTPase binding	GO:0031267	9.33	FGD1 FGD3 FGD6
2	Rac guanyl-nucleotide exchange factor activity	GO:0030676	9.26	ARHGEF2 FARP2
3	guanyl-nucleotide exchange factor activity	GO:0005085	9.26	ARHGEF2 FGD1 FGD3 FGD6
4	Rho guanyl-nucleotide exchange factor activity	GO:0005089	9.1	ARHGEF2 FARP2 FGD1 FGD3 FGD6 MCF2

Sources

Sources for Aarskog-Scott Syndrome

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Aarskog-Scott Syndrome (AAS)

Aliases & Classifications for Aarskog-Scott Syndrome

MalaCards integrated aliases for Aarskog-Scott Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

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

Human phenotypes related to Aarskog-Scott Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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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 KEGG:

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