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

MCID: ARS001 MIFTS: 53	Aarskog-Scott Syndrome malady Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases
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Aliases & Classifications for Aarskog-Scott Syndrome

Sources:
⁴⁹OMIM, ¹⁰Disease Ontology, ¹¹diseasecard, ⁴⁵NIH Rare Diseases, ²²GeneTests, ²³Genetics Home Reference, ⁴⁷Novoseek, ¹²DISEASES, ⁵¹Orphanet, ⁶⁷UniProtKB/Swiss-Prot, ³⁶MeSH, ²⁴GTR, ⁶⁵UMLS, ²⁷ICD10, ⁵⁹SNOMED-CT, ²⁸ICD10 via Orphanet, ⁶⁶UMLS via Orphanet, ³⁴MedGen, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome ⁴⁹ ¹⁰ ¹¹ ²² ²³ ¹² ⁵¹ ⁶⁷

Aarskog Syndrome ¹⁰ ⁴⁵ ²² ²³ ⁴⁷ ⁵¹ ³⁶ ⁶⁵

Faciogenital Dysplasia ¹⁰ ⁴⁵ ²² ²³ ⁵¹ ⁶⁷

Faciodigitogenital Syndrome ⁴⁵ ²² ⁵¹ ⁶⁷

Aarskog Disease ⁴⁵ ²⁴

Aas ²³ ⁶⁷

Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder ⁶⁷

Facio-Digito-Genital Dysplasia ²³

Scott Aarskog Syndrome ⁴⁵

Aarskog Scott Syndrome ⁴⁵

Greig's Syndrome ¹⁰

Fgdy ⁴⁵

Characteristics:

Orphanet epidemiological data:

⁵¹

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:

⁶¹

aarskog-scott syndrome:
Inheritance: x-linked recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ²⁸ ²⁷

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: ⁵¹

Rare neurological diseases

Rare circulatory system diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM⁴⁹ 305400

Disease Ontology¹⁰ DOID:6683

ICD10²⁷ Q87.1

MeSH³⁶ C535331, D001289

SNOMED-CT⁵⁹ 14921002, 205809002

Orphanet⁵¹ 915

ICD10 via Orphanet²⁸ Q87.1

UMLS via Orphanet⁶⁶ C0175701

MedGen³⁴ C0175701, C1844569, C3275558 CN069557, more

UMLS⁶⁵ C0175701

Summaries for Aarskog-Scott Syndrome

Sources:
¹⁰Disease Ontology, ²³Genetics Home Reference, ⁴⁵NIH Rare Diseases, ⁴⁹OMIM, ⁶⁷UniProtKB/Swiss-Prot, ³³MalaCards
See all MalaCards sources

OMIM:⁴⁹ 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 shawl scrotum, everted lower lip vermilion and hypertelorism. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways are Shigellosis and Regulation of actin cytoskeleton. Affiliated tissues include skin, bone and heart.

Disease Ontology:¹⁰ A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.

Genetics Home Reference:²³ 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:⁴⁵ 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:⁶⁷ 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:
²⁰GeneCards, ¹⁹GeneAnalytics
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 213)

id	Related Disease	Score	Top Affiliating Genes
1	amyloidosis aa	12.3
2	helsmoortel-van der aa syndrome	12.1
3	alopecia areata	11.4
4	adnp syndrome	11.2
5	aplastic anemia	11.2
6	hydrocephalus, costovertebral dysplasia, and sprengel anomaly	11.1
7	7q11.23 duplication syndrome	11.0
8	scott syndrome	10.9
9	greig cephalopolysyndactyly syndrome	10.9
10	sveinsson choreoretinal atrophy	10.9
11	adnp-related intellectual disability and autism spectrum disorder	10.9
12	amyloidosis	10.5
13	attention deficit-hyperactivity disorder	10.2
14	arthropathy	10.2
15	myopathy	10.2
16	cerebrovascular disease	10.2
17	polymicrogyria	10.2
18	endotheliitis	10.2
19	unilateral focal polymicrogyria	10.2
20	arthritis	10.0
21	superior mesenteric artery syndrome	10.0
22	hyperlipidemia type 3	10.0
23	rheumatoid arthritis	10.0
24	al amyloidosis	10.0
25	balantidiasis	9.9	BTRC, CDC42
26	amyloidosis, hereditary, transthyretin-related	9.9
27	chromosome 7q11.23 duplication syndrome	9.9
28	leukemia	9.8
29	prostatitis	9.8
30	spastic hemiplegia	9.8
31	hemiplegia	9.8
32	growth hormone deficiency	9.8
33	isolated growth hormone deficiency	9.8
34	metatarsus adductus	9.8
35	spasticity	9.8
36	prostate cancer	9.8
37	nephrotic syndrome	9.8
38	alopecia	9.8
39	lymphoma	9.8
40	arteriovenous malformation	9.8
41	dermatitis	9.8
42	myositis	9.8
43	thyroiditis	9.8
44	breast cancer	9.7
45	obesity	9.7
46	crohn's disease	9.7
47	protein-losing enteropathy	9.7
48	rheumatic disease	9.7
49	corneal dystrophy	9.7
50	atopic dermatitis	9.7

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

Symptoms for Aarskog-Scott Syndrome

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology, ⁵¹Orphanet
See all MalaCards sources

Symptoms by clinical synopsis from OMIM:

305400

Clinical features from OMIM:

305400

Symptoms:

⁵¹ (show all 49)

hypertelorism
everted lower lip
umbilical hernia
anomalies of hands
short hand/brachydactyly
small hand/acromicria
camptodactyly of some fingers
short foot/brachydactyly of toes
broad foot
shawl scrotum
x-linked recessive inheritance
short stature/dwarfism/nanism
broad forehead
downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
ptosis
broad nasal root
anteverted nares/nostrils
long philtrum
external ear anomalies
low set ears/posteriorly rotated ears
inguinal/inguinoscrotal/crural hernia
syndactyly of fingers/interdigital palm
clinodactyly of fifth finger
hyperelastic skin/cutaneous hyperlaxity
high hair line (front)/widow peak

undescended/ectopic testes/cryptorchidia/unfixed testes
intellectual deficit/mental/psychomotor retardation/learning disability
hyperextensible joints/articular hyperlaxity
round face
hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
megalocornea
strabismus/squint
epicanthic folds
cleft lip
cleft lip and palate
cleft palate without cleft lip/submucosal cleft palate/bifid uvula
anomalies of teeth and dentition
delayed dentition/eruption of teeth/lack of eruption of teeth
short neck
pectus excavatum
anomalies of spine, vertebrae and pelvis
simian crease/transverse/unique palmar crease
genu recurvatum
talipes-varus/metatarsal varus
flat foot
congenital cardiac anomaly/malformation/cardiopathy
heart/cardiac failure
hyperactivity/attention deficit
psychic/behavioural troubles

HPO human phenotypes related to Aarskog-Scott Syndrome:

(show all 82)

id	Description	Frequency	HPO Source Accession
1	shawl scrotum	hallmark (90%)	HP:0000049
2	everted lower lip vermilion	hallmark (90%)	HP:0000232
3	hypertelorism	hallmark (90%)	HP:0000316
4	brachydactyly syndrome	hallmark (90%)	HP:0001156
5	umbilical hernia	hallmark (90%)	HP:0001537
6	broad foot	hallmark (90%)	HP:0001769
7	short toe	hallmark (90%)	HP:0001831
8	short palm	hallmark (90%)	HP:0004279
9	short stature	hallmark (90%)	HP:0004322
10	camptodactyly of finger	hallmark (90%)	HP:0100490
11	cryptorchidism	typical (50%)	HP:0000028
12	broad forehead	typical (50%)	HP:0000337
13	long philtrum	typical (50%)	HP:0000343
14	low-set, posteriorly rotated ears	typical (50%)	HP:0000368
15	wide nasal bridge	typical (50%)	HP:0000431
16	anteverted nares	typical (50%)	HP:0000463
17	downslanted palpebral fissures	typical (50%)	HP:0000494
18	ptosis	typical (50%)	HP:0000508
19	hyperextensible skin	typical (50%)	HP:0000974
20	joint hypermobility	typical (50%)	HP:0001382
21	clinodactyly of the 5th finger	typical (50%)	HP:0004209
22	finger syndactyly	typical (50%)	HP:0006101
23	external ear malformation	typical (50%)	HP:0008572
24	high anterior hairline	typical (50%)	HP:0009890
25	cognitive impairment	typical (50%)	HP:0100543
26	cleft palate	occasional (7.5%)	HP:0000175
27	cleft upper lip	occasional (7.5%)	HP:0000204
28	epicanthus	occasional (7.5%)	HP:0000286
29	round face	occasional (7.5%)	HP:0000311
30	short neck	occasional (7.5%)	HP:0000470
31	megalocornea	occasional (7.5%)	HP:0000485
32	strabismus	occasional (7.5%)	HP:0000486
33	delayed eruption of teeth	occasional (7.5%)	HP:0000684
34	pectus excavatum	occasional (7.5%)	HP:0000767
35	single transverse palmar crease	occasional (7.5%)	HP:0000954
36	congestive heart failure	occasional (7.5%)	HP:0001635
37	pes planus	occasional (7.5%)	HP:0001763
38	talipes	occasional (7.5%)	HP:0001883
39	genu recurvatum	occasional (7.5%)	HP:0002816
40	attention deficit hyperactivity disorder	occasional (7.5%)	HP:0007018
41	clinodactyly		HP:0030084
42	increased upper to lower segment ratio		HP:0012774
43	large earlobe		HP:0009748
44	radial deviation of finger		HP:0009466
45	attention deficit hyperactivity disorder		HP:0007018
46	short palm		HP:0004279
47	mild short stature		HP:0003502
48	cervical spine hypermobility		HP:0003318
49	hypoplasia of the odontoid process		HP:0003311
50	short nose		HP:0003196
51	scoliosis		HP:0002650
52	curved linear dimple below the lower lip		HP:0002055
53	short foot		HP:0001773
54	broad foot		HP:0001769
55	prominent umbilicus		HP:0001544
56	failure to thrive		HP:0001508
57	intellectual disability		HP:0001249
58	hyperextensibility of the finger joints		HP:0001187
59	broad palm		HP:0001169
60	syndactyly		HP:0001159
61	brachydactyly syndrome		HP:0001156
62	single transverse palmar crease		HP:0000954
63	delayed puberty		HP:0000823
64	pectus excavatum		HP:0000767
65	hypodontia		HP:0000668
66	hypermetropia		HP:0000540
67	ptosis		HP:0000508
68	downslanted palpebral fissures		HP:0000494
69	strabismus		HP:0000486
70	short neck		HP:0000470
71	anteverted nares		HP:0000463
72	wide nasal bridge		HP:0000431
73	widow's peak		HP:0000349
74	hypoplasia of the maxilla		HP:0000327
75	hypertelorism		HP:0000316
76	round face		HP:0000311
77	broad philtrum		HP:0000289
78	cleft upper lip		HP:0000204
79	cleft palate		HP:0000175
80	shawl scrotum		HP:0000049
81	cryptorchidism		HP:0000028
82	inguinal hernia		HP:0000023

Drugs & Therapeutics for Aarskog-Scott Syndrome

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ⁶Cochrane Library, ⁶⁵UMLS, ⁴³NDF-RT, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
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		Astragalus	Nutraceutical		48

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Genetic Disease Gene Identification	Enrolling by invitation	NCT00916903

Search NIH Clinical Center for Aarskog-Scott Syndrome

Cochrane evidence based reviews: aarskog syndrome

Genetic Tests for Aarskog-Scott Syndrome

Sources:
²²GeneTests
See all MalaCards sources

Genetic tests related to Aarskog-Scott Syndrome:

id	Genetic test	Affiliating Genes
1	Aarskog Syndrome²²	FGD1

Anatomical Context for Aarskog-Scott Syndrome

Sources:
³³MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

³³

Skin, Bone, Heart, Testes, Breast, Endothelial, Neutrophil

Animal Models for Aarskog-Scott Syndrome or affiliated genes

Publications for Aarskog-Scott Syndrome

Sources:
⁵⁴PubMed
See all MalaCards sources

Articles related to Aarskog-Scott Syndrome:

(show all 29)

id	Title	Authors	Year
1	Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. (26029706)	PAcrez-Coria M.... MartA-nez-de-Villarreal L.E.	2015
2	Aarskog-Scott syndrome presenting with psychosis: A case study. (25911513)	Trevizol A.P.... Shiozawa P.	2015
3	Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). (25227149)	Orrico A.... Fryns J.P.	2014
4	Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. (24770546)	VAPlter C.... Kress W.	2014
5	Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. (23169394)	Aten E.... den Dunnen J.T.	2013
6	Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. (23211637)	Al-Semari A.... Meyer B.F.	2013
7	A novel mutation in a mother and a son with Aarskog-Scott syndrome. (23443263)	AltA+ncA+k A.... BAPber E.	2013
8	Aarskog-Scott syndrome. (23673187)	Shanavas M.... Sharif A.	2013
9	Aarskog-scott syndrome: a review and case report. (25206170)	Closs L.Q.... Vargas I.A.	2012
10	Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. (22211847)	Ronce N.... Raynaud M.	2012
11	Mania with Aarskog-Scott syndrome. (22565081)	Nayak R.B.... Pandurangi A.	2012
12	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
13	Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). (21654724)	Orrico A.... Fryns J.P.	2011
14	Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. (21739585)	Pilozzi-Edmonds L.... Alfares A.	2011
15	Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. (20082460)	Orrico A.... Sorrentino V.	2010
16	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
17	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
18	Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)	DiLuna M.L.... Gunel M.	2007
19	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
20	Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)	Kaname T.... Naritomi K.	2006
21	Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)	Moraes S.G.... Maciel-Guerra A.T.	2006
22	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
23	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
24	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
25	Sperm acrosome defects in a patient with Aarskog-Scott syndrome. (8985497)	Meschede D.... Nieschlag E.	1996
26	Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (7810566)	Stevenson R.E.... Schwartz C.E.	1994
27	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
28	The Aarskog-Scott syndrome in four brothers. (1227529)	Archibald R.M.... German J.	1975
29	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:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁵¹Orphanet, ⁶⁷UniProtKB/Swiss-Prot, ²²GeneTests, ¹²DISEASES, ⁴⁷Novoseek
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	1725.08	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative germline mutation ⁵¹ Causative variation ⁶⁷ Genetic Tests ²² DISEASES inferred ¹² Novoseek inferred ⁴⁷ 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	18.43	DISEASES inferred ¹²
3	CDC42	Cell Division Cycle 42	17.89	DISEASES inferred ¹²
4	MCF2	MCF.2 Cell Line Derived Transforming Sequence	17.52	DISEASES inferred ¹²
5	FGD4	FYVE, RhoGEF And PH Domain Containing 4	16.64	DISEASES inferred ¹²
6	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	16.42	DISEASES inferred ¹²
7	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	15.52	DISEASES inferred ¹²

Variations for Aarskog-Scott Syndrome

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar, ⁸dbSNP
See all MalaCards sources

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

⁶⁷

id	Symbol	AA change	Variation ID	SNP ID
1	FGD1	p.Arg522His	VAR_015236
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 18)

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	Chr X, 54482666: 54482666
3	FGD1	NM_004463.2(FGD1): c.1565G> A (p.Arg522His)	single nucleotide variant	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)	single nucleotide variant	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)	single nucleotide variant	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)	single nucleotide variant	Pathogenic	rs137853267	GRCh37	Chr X, 54492230: 54492230
11	FGD1	NM_004463.2(FGD1): c.2016-2A> G	single nucleotide variant	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)	single nucleotide variant	Pathogenic	rs387906718	GRCh37	Chr X, 54481930: 54481930
14	FGD1	NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter)	single nucleotide variant	Pathogenic	rs398124155	GRCh37	Chr X, 54494270: 54494270
15	FGD1	NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter)	single nucleotide variant	Pathogenic	rs398124156	GRCh37	Chr X, 54492158: 54492158
16	FGD1	NM_004463.2(FGD1): c.175C> T (p.Gln59Ter)	single nucleotide variant	Pathogenic	rs398124160	GRCh37	Chr X, 54521691: 54521691
17	FGD1	NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs)	insertion	Pathogenic	rs398124161	GRCh37	Chr X, 54476127: 54476128
18	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:
¹⁷Gene 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:
⁵²PathCards, ³¹KEGG, ³⁹NCBI BioSystems Database, ⁶²Thomson Reuters, ⁵⁷Reactome
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Shigellosis³¹	9.5	BTRC, CDC42
2	Regulation of actin cytoskeleton³⁹ ³¹ Show member pathways Regulation of Actin Cytoskeleton³⁹	9.2	CDC42, FGD1, FGD3
3	Adherens junction³¹	9.2	CDC42, FARP2
4	Nectin adhesion pathway³⁹	9.2	CDC42, FARP2
5	G-protein signaling_Regulation of CDC42 activity⁶²	8.5	CDC42, FGD1, FGD4, MCF2
6	Regulation of CDC42 activity³⁹	8.3	CDC42, FARP2, FGD1, MCF2
7	p75 NTR receptor-mediated signalling⁵⁷ Show member pathways NRAGE signals death through JNK⁵⁷ Cell death signalling via NRAGE, NRIF and NADE⁵⁷ G alpha (12/13) signalling events⁵⁷ Axonal growth stimulation⁵⁷ p75NTR regulates axonogenesis⁵⁷ Axonal growth inhibition (RHOA activation)⁵⁷ p75NTR signals via NF-kB⁵⁷ p75NTR recruits signalling complexes⁵⁷ Regulated proteolysis of p75NTR⁵⁷ p75NTR negatively regulates cell cycle via SC1⁵⁷ NF-kB is activated and signals survival⁵⁷ NRIF signals cell death from the nucleus⁵⁷ NADE modulates death signalling⁵⁷	8.1	CDC42, FGD1, FGD3, FGD4, MCF2
8	Signaling by Rho GTPases⁵⁷ Show member pathways RHO GTPase Effectors⁵⁷ Rho GTPase cycle⁵⁷	8.1	CDC42, FGD1, FGD3, FGD4, MCF2
9	Signaling by GPCR⁵⁷ Show member pathways Signal Transduction⁵⁷ GPCR downstream signaling⁵⁷	7.6	BTRC, CDC42, FGD1, FGD3, FGD4, MCF2

GO Terms for genes affiliated with Aarskog-Scott Syndrome

Sources:
¹⁸Gene Ontology
See all MalaCards sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of cell shape	GO:0008360	9.4	FGD1, FGD3
2	cytoskeleton organization	GO:0007010	9.4	FGD1, FGD3, FGD4
3	regulation of Rho protein signal transduction	GO:0035023	9.3	FGD1, FGD3, FGD4
4	regulation of small GTPase mediated signal transduction	GO:0051056	8.1	CDC42, FGD1, FGD3, FGD4, MCF2
5	small GTPase mediated signal transduction	GO:0007264	8.0	CDC42, FGD1, FGD3, FGD4, MCF2