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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
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Aliases & Classifications for Aarskog-Scott Syndrome

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MalaCards integrated aliases for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome 57 12 76 25 59 75 37 13
Aarskog Syndrome 12 76 53 25 59 29 55 6 44 15 73
Faciogenital Dysplasia 57 12 53 25 59 75
Faciodigitogenital Syndrome 57 53 25 59 75
Fgdy 57 53 25
Aas 57 25 75
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 75
Facio-Digito-Genital Dysplasia 25
Faciogenital Dysplasia; Fgdy 57
Aarskog Syndrome, X-Linked 57
Aarskog-Scott Syndrome ) 40
Aarskog Scott Syndrome 53
Scott Aarskog Syndrome 53
Greig's Syndrome 12
Aarskog Disease 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
x-linked recessive

Miscellaneous:
normal fertility


HPO:

32
aarskog-scott syndrome:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Mental diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Aarskog-Scott Syndrome

About this section
OMIM : 57 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, bone and skin, and related phenotypes are hypertelorism and short neck

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 : 53 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 : 75 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 : 76 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

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

(show top 50) (show all 560)
# 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 12.3
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 11.3
11 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.3
12 renal nutcracker syndrome 11.3
13 sveinsson chorioretinal atrophy 11.2
14 superior mesenteric artery syndrome 11.2
15 7q11.23 duplication syndrome 11.2
16 greig cephalopolysyndactyly syndrome 11.0
17 amyloidosis, hereditary, transthyretin-related 11.0
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 scoliosis 10.3
24 arthropathy 10.3
25 myopathy 10.3
26 cerebrovascular disease 10.3
27 polymicrogyria 10.3
28 familial mediterranean fever 10.1
29 taqi polymorphism 10.1
30 al amyloidosis 10.1
31 nephrotic syndrome 10.1
32 alzheimer disease 10.0
33 alopecia 9.9
34 autism 9.9
35 tardive dyskinesia 9.9
36 isolated growth hormone deficiency 9.9
37 spastic hemiplegia 9.9
38 hemiplegia 9.9
39 epilepsy 9.9
40 growth hormone deficiency 9.9
41 metatarsus adductus 9.9
42 prostate cancer 9.9
43 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
44 glomerulonephritis 9.9
45 leukemia 9.9
46 sarcoma 9.9
47 dermatitis 9.9
48 spondyloarthropathy 1 9.8
49 arteries, anomalies of 9.8
50 breast cancer 9.8

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



Diseases related to Aarskog-Scott Syndrome
Sources

Symptoms & Phenotypes for Aarskog-Scott Syndrome

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Aarskog-Scott Syndrome:

59 32 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 very rare (1%) Very frequent (99-80%) HP:0000316
2 short neck 59 32 very rare (1%) Occasional (29-5%) HP:0000470
3 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
4 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
5 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
6 inguinal hernia 59 32 very rare (1%) Frequent (79-30%) HP:0000023
7 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
8 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
9 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
10 anteverted nares 59 32 very rare (1%) Frequent (79-30%) HP:0000463
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
13 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
14 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
15 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
16 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
17 short palm 59 32 very rare (1%) Very frequent (99-80%) HP:0004279
18 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
19 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
20 megalocornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000485
21 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
22 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
23 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
24 genu recurvatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002816
25 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
26 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
27 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
28 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
29 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
30 small hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0200055
31 hypoplasia of the maxilla 59 32 occasional (7.5%) Occasional (29-5%) HP:0000327
32 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
33 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
34 round face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000311
35 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
36 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
37 hyperextensible skin 59 32 frequent (33%) Frequent (79-30%) HP:0000974
38 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
39 broad foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001769
40 shawl scrotum 59 32 very rare (1%) Very frequent (99-80%) HP:0000049
41 single transverse palmar crease 59 32 occasional (7.5%) Occasional (29-5%) HP:0000954
42 broad palm 59 32 very rare (1%) Very frequent (99-80%) HP:0001169
43 abnormal vertebral segmentation and fusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0005640
44 high anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0009890
45 clinodactyly 32 HP:0030084
46 failure to thrive 32 HP:0001508
47 scoliosis 32 HP:0002650
48 behavioral abnormality 59 Occasional (29-5%)
49 global developmental delay 32 very rare (1%) HP:0001263
50 abnormality of the dentition 59 Occasional (29-5%)
Sources

Drugs & Therapeutics for Aarskog-Scott Syndrome

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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

Sources

Genetic Tests for Aarskog-Scott Syndrome

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Genetic tests related to Aarskog-Scott Syndrome:

# Genetic test Affiliating Genes
1 Aarskog Syndrome 29 FGD1
Sources

Anatomical Context for Aarskog-Scott Syndrome

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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

41
Heart, Bone, Skin, Lung, Brain, Kidney, Liver
Sources

Publications for Aarskog-Scott Syndrome

About this section

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 )
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
Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. ( 10721717 )
2000
44
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. ( 11093277 )
2000
45
Prenatal sonographic diagnosis of Aarskog syndrome. ( 10511304 )
1999
46
Brief report: autism and Aarskog syndrome. ( 10382140 )
1999
47
Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature. ( 10204459 )
1999
48
Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues. ( 10458911 )
1999
49
The effect of growth hormone treatment on stature in Aarskog syndrome. ( 10392362 )
1999
50
Intelligence and development in Aarskog syndrome. ( 9875050 )
1998
Sources

Variations for Aarskog-Scott Syndrome

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

75
# 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 57)
# 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 FGD1, 1-BP INS, 528C insertion Pathogenic
10 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh37 Chromosome X, 54494334: 54494334
11 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh38 Chromosome X, 54467901: 54467901
12 FGD1 FGD1, 1-BP DEL, 2189A deletion Pathogenic
13 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh37 Chromosome X, 54494229: 54494229
14 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh38 Chromosome X, 54467796: 54467796
15 FGD1 FGD1, 1-BP INS, 945C insertion Pathogenic
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 GRCh38 Chromosome X, 54455497: 54455497
19 FGD1 NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs387906718 GRCh37 Chromosome X, 54481930: 54481930
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.2016-2A> G single nucleotide variant Pathogenic rs794727099 GRCh37 Chromosome X, 54476736: 54476736
33 FGD1 NM_004463.2(FGD1): c.2016-2A> G single nucleotide variant Pathogenic rs794727099 GRCh38 Chromosome X, 54450303: 54450303
34 FGD1 NM_004463.2(FGD1): c.527dup (p.Leu177Thrfs) duplication Pathogenic/Likely pathogenic rs756586058 GRCh37 Chromosome X, 54497148: 54497148
35 FGD1 NM_004463.2(FGD1): c.527dup (p.Leu177Thrfs) duplication Pathogenic/Likely pathogenic rs756586058 GRCh38 Chromosome X, 54470715: 54470715
36 FGD1 NM_004463.2(FGD1): c.2761C> T (p.Arg921Ter) single nucleotide variant Uncertain significance rs869312743 GRCh38 Chromosome X, 54446234: 54446234
37 FGD1 NM_004463.2(FGD1): c.2761C> T (p.Arg921Ter) single nucleotide variant Uncertain significance rs869312743 GRCh37 Chromosome X, 54472667: 54472667
38 FGD1 NM_004463.2(FGD1): c.527delC (p.Pro176Hisfs) deletion Pathogenic rs780428919 GRCh37 Chromosome X, 54497148: 54497148
39 FGD1 NM_004463.2(FGD1): c.527delC (p.Pro176Hisfs) deletion Pathogenic rs780428919 GRCh38 Chromosome X, 54470715: 54470715
40 FGD1 NM_004463.2(FGD1): c.892dup (p.Cys298Leufs) duplication Likely pathogenic GRCh38 Chromosome X, 54470225: 54470225
41 FGD1 NM_004463.2(FGD1): c.892dup (p.Cys298Leufs) duplication Likely pathogenic GRCh37 Chromosome X, 54496658: 54496658
42 FGD1 NM_004463.2(FGD1): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 54470665: 54470665
43 FGD1 NM_004463.2(FGD1): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 54497098: 54497098
44 FGD1 NM_004463.2(FGD1): c.2728C> T (p.Arg910Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 54472700: 54472700
45 FGD1 NM_004463.2(FGD1): c.2728C> T (p.Arg910Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 54446267: 54446267
46 FGD1 NM_004463.2(FGD1): c.2006T> G (p.Leu669Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 54481890: 54481890
47 FGD1 NM_004463.2(FGD1): c.2006T> G (p.Leu669Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 54455457: 54455457
48 FGD1 NM_004463.2(FGD1): c.1733T> C (p.Leu578Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 54482762: 54482762
49 FGD1 NM_004463.2(FGD1): c.1733T> C (p.Leu578Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 54456329: 54456329
50 FGD1 NM_004463.2(FGD1): c.1445_1447dup (p.Asn482_Thr483insAsn) duplication Uncertain significance GRCh38 Chromosome X, 54465746: 54465748
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Expression for Aarskog-Scott Syndrome

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

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Pathways related to Aarskog-Scott Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Signaling by Rho GTPases 66
Show member pathways
 12.51 ARHGEF2 CDC42 FGD1 FGD3 MCF2
2
Actin Nucleation by ARP-WASP Complex 64
Show member pathways
 12.46 ARHGEF2 CDC42 FGD1 FGD3
3
p75 NTR receptor-mediated signalling 66
Show member pathways
 12.31 ARHGEF2 CDC42 FGD1 FGD3 MCF2
4
Regulation of actin cytoskeleton 1 37
12.22 CDC42 FGD1 FGD3
5
Cytoskeletal Signaling 4
12.07 ARHGEF2 CDC42 MCF2
6
Guidance Cues and Growth Cone Motility 64
11.56 ARHGEF2 CDC42
7
Signaling by Slit 64
11.14 ARHGEF2 CDC42
8
Regulation of RhoA activity 1
11.1 ARHGEF2 MCF2
9
Regulation of RAC1 activity 1
10.96 ARHGEF2 MCF2
10
G-protein signaling_Regulation of CDC42 activity 22
10.64 CDC42 FGD1 MCF2
11
Regulation of CDC42 activity 1
10.28 CDC42 FGD1 MCF2
Sources

GO Terms for Aarskog-Scott Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.56 ARHGEF2 FGD1 FGD3 FGD6
2 lamellipodium GO:0030027 9.33 FGD1 FGD3 FGD6
3 ruffle GO:0001726 9.13 FGD1 FGD3 FGD6
4 cytoskeleton GO:0005856 9.1 ARHGEF2 CDC42 FGD1 FGD3 FGD6 MCF2

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 9.02 ARHGEF2 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 guanyl-nucleotide exchange factor activity GO:0005085 9.35 ARHGEF2 FGD1 FGD3 FGD6 MCF2
2 small GTPase binding GO:0031267 9.33 FGD1 FGD3 FGD6
3 Rho guanyl-nucleotide exchange factor activity GO:0005089 9.02 ARHGEF2 FGD1 FGD3 FGD6 MCF2
Sources

Sources for Aarskog-Scott Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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