AAS
MCID: ARS001
MIFTS: 57

Aarskog-Scott Syndrome (AAS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

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:



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 Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone, 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...

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 609)
# 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 12.2
7 alopecia areata 12.0
8 adnp syndrome 11.9
9 williams-beuren region duplication syndrome 11.6
10 aplastic anemia 11.4
11 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.3
12 renal nutcracker syndrome 11.3
13 sveinsson chorioretinal atrophy 11.3
14 superior mesenteric artery syndrome 11.2
15 7q11.23 duplication syndrome 11.2
16 greig cephalopolysyndactyly syndrome 11.1
17 amyloidosis, hereditary, transthyretin-related 11.1
18 adnp-related intellectual disability and autism spectrum disorder 11.0
19 amyloidosis 10.8
20 arthritis 10.3
21 rheumatoid arthritis 10.3
22 attention deficit-hyperactivity disorder 10.3
23 pol iii-related leukodystrophies 10.3
24 scoliosis 10.3
25 arthropathy 10.3
26 myopathy 10.3
27 cerebrovascular disease 10.3
28 polymicrogyria 10.3
29 familial mediterranean fever 10.1
30 hypertelorism 10.1
31 taqi polymorphism 10.1
32 nephrotic syndrome 10.1
33 al amyloidosis 10.1
34 alzheimer disease 10.1
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
36 breast cancer 10.0
37 alopecia 10.0
38 leukemia 10.0
39 brucellosis 10.0
40 prostate cancer 9.9
41 prostate cancer, hereditary, 8 9.9
42 prostate cancer, hereditary, 6 9.9
43 autism 9.9
44 tardive dyskinesia 9.9
45 isolated growth hormone deficiency 9.9
46 spastic hemiplegia 9.9
47 hemiplegia 9.9
48 epilepsy 9.9
49 growth hormone deficiency 9.9
50 metatarsus adductus 9.9

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



Diseases related to Aarskog-Scott Syndrome

Symptoms & Phenotypes for Aarskog-Scott Syndrome

Human phenotypes related to Aarskog-Scott Syndrome:

60 33 (show top 50) (show all 73)
# 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

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 Neuroserpin
2 Astragalus

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

Genetic Tests for Aarskog-Scott Syndrome

Genetic tests related to Aarskog-Scott Syndrome:

# Genetic test Affiliating Genes
1 Aarskog Syndrome 30 FGD1

Anatomical Context for Aarskog-Scott Syndrome

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

42
Heart, Skin, Bone, Endothelial

Publications for Aarskog-Scott Syndrome

Articles related to Aarskog-Scott Syndrome:

(show top 50) (show all 98)
# Title Authors Year
1
Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature. ( 29689188 )
2018
2
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )
2017
3
Aarskog-Scott syndrome: An unusual cause of scoliosis. ( 29021683 )
2017
4
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322 )
2017
5
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )
2016
6
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )
2016
7
Identifying Aarskog Syndrome. ( 28209013 )
2016
8
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )
2015
9
Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome. ( 28663972 )
2015
10
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )
2015
11
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149 )
2014
12
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )
2014
13
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )
2013
14
Aarskog-Scott syndrome. ( 23673187 )
2013
15
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )
2013
16
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )
2013
17
X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype. ( 22876573 )
2012
18
Aarskog-scott syndrome: a review and case report. ( 25206170 )
2012
19
Mania with Aarskog-Scott syndrome. ( 22565081 )
2012
20
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )
2012
21
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )
2011
22
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )
2011
23
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474 )
2011
24
Familial syndrome resembling Aarskog syndrome. ( 20607856 )
2010
25
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )
2010
26
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )
2009
27
Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report. ( 18812898 )
2008
28
Aarskog syndrome: a case report and literature review. ( 18577494 )
2008
29
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 )
2007
30
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )
2007
31
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )
2007
32
Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. ( 16353258 )
2006
33
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )
2006
34
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )
2006
35
Aarskog syndrome with aortic root dilatation and sub-valvular aortic stenosis: surgical management. ( 17670353 )
2005
36
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997 )
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 )
2004
38
Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data. ( 14594174 )
2003
39
Orthodontic treatment of a case of Aarskog syndrome. ( 12739682 )
2003
40
Aarskog syndrome. ( 11976476 )
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 )
2000
42
Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). ( 10906777 )
2000
43
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. ( 11093277 )
2000
44
Prenatal sonographic diagnosis of Aarskog syndrome. ( 10511304 )
1999
45
Brief report: autism and Aarskog syndrome. ( 10382140 )
1999
46
Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature. ( 10204459 )
1999
47
Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues. ( 10458911 )
1999
48
The effect of growth hormone treatment on stature in Aarskog syndrome. ( 10392362 )
1999
49
Intelligence and development in Aarskog syndrome. ( 9875050 )
1998
50
Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene. ( 9268645 )
1997

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 NM_004463.2(FGD1): c.527dup (p.Leu177Thrfs) duplication Pathogenic/Likely pathogenic rs756586058 GRCh37 Chromosome X, 54497148: 54497148
2 FGD1 NM_004463.2(FGD1): c.527dup (p.Leu177Thrfs) duplication Pathogenic/Likely pathogenic rs756586058 GRCh38 Chromosome X, 54470715: 54470715
3 FGD1 FGD1, 1-BP INS, 2122G insertion Pathogenic
4 FGD1 NM_004463.2(FGD1): c.1829G> A (p.Arg610Gln) single nucleotide variant Pathogenic rs28935497 GRCh37 Chromosome X, 54482666: 54482666
5 FGD1 NM_004463.2(FGD1): c.1829G> A (p.Arg610Gln) single nucleotide variant Pathogenic rs28935497 GRCh38 Chromosome X, 54456233: 54456233
6 FGD1 NM_004463.2(FGD1): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs137853264 GRCh37 Chromosome X, 54491955: 54491955
7 FGD1 NM_004463.2(FGD1): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs137853264 GRCh38 Chromosome X, 54465522: 54465522
8 FGD1 FGD1, EX9-12DEL deletion Pathogenic
9 FGD1 NM_004463.2(FGD1): c.935C> T (p.Pro312Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs28935498 GRCh37 Chromosome X, 54496615: 54496615
10 FGD1 NM_004463.2(FGD1): c.935C> T (p.Pro312Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs28935498 GRCh38 Chromosome X, 54470182: 54470182
11 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh37 Chromosome X, 54494334: 54494334
12 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh38 Chromosome X, 54467901: 54467901
13 FGD1 FGD1, 1-BP DEL, 2189A deletion Pathogenic
14 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh37 Chromosome X, 54494229: 54494229
15 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh38 Chromosome X, 54467796: 54467796
16 FGD1 NM_004463.3(FGD1): c.944dup (p.Ala316Cysfs) duplication Pathogenic GRCh37 Chromosome X, 54496606: 54496606
17 FGD1 NM_004463.3(FGD1): c.944dup (p.Ala316Cysfs) duplication Pathogenic GRCh38 Chromosome X, 54470173: 54470173
18 FGD1 NM_004463.2(FGD1): c.1396A> G (p.Met466Val) single nucleotide variant Pathogenic rs137853267 GRCh37 Chromosome X, 54492230: 54492230
19 FGD1 NM_004463.2(FGD1): c.1396A> G (p.Met466Val) single nucleotide variant Pathogenic rs137853267 GRCh38 Chromosome X, 54465797: 54465797
20 FGD1 NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs387906718 GRCh37 Chromosome X, 54481930: 54481930
21 FGD1 NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs387906718 GRCh38 Chromosome X, 54455497: 54455497
22 FGD1 NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter) single nucleotide variant Pathogenic rs398124155 GRCh38 Chromosome X, 54467837: 54467837
23 FGD1 NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs398124156 GRCh37 Chromosome X, 54492158: 54492158
24 FGD1 NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs398124156 GRCh38 Chromosome X, 54465725: 54465725
25 FGD1 NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter) single nucleotide variant Pathogenic rs398124155 GRCh37 Chromosome X, 54494270: 54494270
26 FGD1 NM_004463.2(FGD1): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs398124160 GRCh37 Chromosome X, 54521691: 54521691
27 FGD1 NM_004463.2(FGD1): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs398124160 GRCh38 Chromosome X, 54495258: 54495258
28 FGD1 NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs) insertion Pathogenic rs398124161 GRCh37 Chromosome X, 54476127: 54476128
29 FGD1 NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs) insertion Pathogenic rs398124161 GRCh38 Chromosome X, 54449694: 54449695
30 FGD1 NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs) duplication Pathogenic rs398124162 GRCh37 Chromosome X, 54476105: 54476105
31 FGD1 NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs) duplication Pathogenic rs398124162 GRCh38 Chromosome X, 54449672: 54449672
32 FGD1 NM_004463.2(FGD1): c.395G> A (p.Arg132Gln) single nucleotide variant Benign/Likely benign rs145644275 GRCh37 Chromosome X, 54497833: 54497833
33 FGD1 NM_004463.2(FGD1): c.395G> A (p.Arg132Gln) single nucleotide variant Benign/Likely benign rs145644275 GRCh38 Chromosome X, 54471400: 54471400
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

Expression for Aarskog-Scott Syndrome

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

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
Show member pathways
12.51 ARHGEF2 CDC42 FGD1 FGD3 MCF2
2
Show member pathways
12.46 ARHGEF2 CDC42 FGD1 FGD3
3
Show member pathways
12.31 ARHGEF2 CDC42 FGD1 FGD3 MCF2
4 12.24 CDC42 FGD1 FGD3
5 12.1 ARHGEF2 CDC42 MCF2
6 11.59 ARHGEF2 CDC42
7 11.37 CDC42 FARP2
8 11.16 ARHGEF2 CDC42
9 11.12 ARHGEF2 MCF2
10 11 ARHGEF2 MCF2
11 10.77 CDC42 FARP2
12 10.64 CDC42 FGD1 MCF2
13 10.4 CDC42 FARP2 FGD1 MCF2

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 for Aarskog-Scott Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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