MCID: ARS001
MIFTS: 54

Aarskog-Scott Syndrome

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

Aliases & Classifications for Aarskog-Scott Syndrome

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:



Summaries for Aarskog-Scott Syndrome

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 skin, heart and bone, and related phenotypes are hypertelorism and short neck

Disease Ontology : 12 A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.

Genetics Home Reference : 25 Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.

NIH Rare Diseases : 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...

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 91)
# Related Disease Score Top Affiliating Genes
1 scott syndrome 30.8 ARHGEF2 FGD1
2 unilateral focal polymicrogyria 30.0 ARHGEF2 FGD1
3 amyloidosis aa 12.4
4 helsmoortel-van der aa syndrome 12.3
5 aarskog syndrome, autosomal dominant 12.2
6 faciodigitogenital syndrome, autosomal recessive 12.1
7 alopecia areata 11.8
8 adnp syndrome 11.7
9 williams-beuren region duplication syndrome 11.5
10 aplastic anemia 11.2
11 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.1
12 renal nutcracker syndrome 11.1
13 sveinsson chorioretinal atrophy 11.1
14 superior mesenteric artery syndrome 11.0
15 7q11.23 duplication syndrome 11.0
16 greig cephalopolysyndactyly syndrome 10.9
17 amyloidosis, hereditary, transthyretin-related 10.9
18 adnp-related intellectual disability and autism spectrum disorder 10.9
19 amyloidosis 10.4
20 attention deficit-hyperactivity disorder 10.1
21 scoliosis 10.1
22 arthropathy 10.1
23 myopathy 10.1
24 cerebrovascular disease 10.1
25 polymicrogyria 10.1
26 endotheliitis 10.1
27 arthritis 10.0
28 rheumatoid arthritis 10.0
29 al amyloidosis 9.9
30 alzheimer disease 9.9
31 breast cancer 9.8
32 aging 9.8
33 familial mediterranean fever 9.8
34 leukemia 9.8
35 brucellosis 9.8
36 autism 9.8
37 tardive dyskinesia 9.8
38 isolated growth hormone deficiency 9.8
39 spastic hemiplegia 9.8
40 hemiplegia 9.8
41 epilepsy 9.8
42 prostatitis 9.8
43 prostate cancer 9.7
44 lung cancer 9.7
45 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
46 sarcoma 9.7
47 nephrotic syndrome 9.7
48 dermatitis 9.7
49 cerebritis 9.7
50 neuropathy 9.7

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



Diseases related to Aarskog-Scott Syndrome

Symptoms & Phenotypes for Aarskog-Scott Syndrome

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

GenitourinaryInternal GenitaliaMale:
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 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 59 32 occasional (7.5%) 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 frequent (33%) 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 frequent (33%) 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 hallmark (90%) 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 32 59 hallmark (90%) Very frequent (99-80%) HP:0001769
40 shawl scrotum 59 32 hallmark (90%) 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 hallmark (90%) 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 intellectual disability 32 HP:0001249
47 failure to thrive 32 HP:0001508
48 scoliosis 32 HP:0002650
49 behavioral abnormality 59 Occasional (29-5%)
50 abnormality of the dentition 59 Occasional (29-5%)

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 Nutraceutical

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 29 FGD1

Anatomical Context for Aarskog-Scott Syndrome

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

41
Skin, Heart, Bone, Endothelial

Publications for Aarskog-Scott Syndrome

Articles related to Aarskog-Scott Syndrome:

(show top 50) (show all 61)
# Title Authors Year
1
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )
2017
2
Aarskog-Scott syndrome: An unusual cause of scoliosis. ( 29021683 )
2017
3
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322 )
2017
4
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )
2016
5
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )
2016
6
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )
2015
7
Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome. ( 28663972 )
2015
8
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )
2015
9
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149 )
2014
10
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )
2014
11
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )
2013
12
Aarskog-Scott syndrome. ( 23673187 )
2013
13
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )
2013
14
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )
2013
15
X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype. ( 22876573 )
2012
16
Aarskog-scott syndrome: a review and case report. ( 25206170 )
2012
17
Mania with Aarskog-Scott syndrome. ( 22565081 )
2012
18
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )
2012
19
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )
2011
20
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )
2011
21
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474 )
2011
22
Familial syndrome resembling Aarskog syndrome. ( 20607856 )
2010
23
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )
2010
24
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )
2009
25
Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report. ( 18812898 )
2008
26
Aarskog syndrome: a case report and literature review. ( 18577494 )
2008
27
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
28
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )
2007
29
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )
2007
30
Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. ( 16353258 )
2006
31
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )
2006
32
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )
2006
33
Aarskog syndrome with aortic root dilatation and sub-valvular aortic stenosis: surgical management. ( 17670353 )
2005
34
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997 )
2005
35
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
36
Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data. ( 14594174 )
2003
37
Orthodontic treatment of a case of Aarskog syndrome. ( 12739682 )
2003
38
Aarskog syndrome. ( 11976476 )
2002
39
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). ( 10930571 )
2000
40
Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). ( 10906777 )
2000
41
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. ( 11093277 )
2000
42
Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. ( 10721717 )
2000
43
Prenatal sonographic diagnosis of Aarskog syndrome. ( 10511304 )
1999
44
Brief report: autism and Aarskog syndrome. ( 10382140 )
1999
45
Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature. ( 10204459 )
1999
46
Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues. ( 10458911 )
1999
47
The effect of growth hormone treatment on stature in Aarskog syndrome. ( 10392362 )
1999
48
Intelligence and development in Aarskog syndrome. ( 9875050 )
1998
49
Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene. ( 9268645 )
1997
50
Aarskog syndrome associated with hypermetropia and toe anomaly. ( 9497838 )
1997

Variations for Aarskog-Scott Syndrome

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 all 39)
# 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 FGD1, 1-BP INS, 528C insertion Pathogenic
8 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh37 Chromosome X, 54494334: 54494334
9 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh38 Chromosome X, 54467901: 54467901
10 FGD1 FGD1, 1-BP DEL, 2189A deletion Pathogenic
11 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh37 Chromosome X, 54494229: 54494229
12 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh38 Chromosome X, 54467796: 54467796
13 FGD1 FGD1, 1-BP INS, 945C insertion Pathogenic
14 FGD1 NM_004463.2(FGD1): c.1396A> G (p.Met466Val) single nucleotide variant Pathogenic rs137853267 GRCh37 Chromosome X, 54492230: 54492230
15 FGD1 NM_004463.2(FGD1): c.1396A> G (p.Met466Val) single nucleotide variant Pathogenic rs137853267 GRCh38 Chromosome X, 54465797: 54465797
16 FGD1 NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs387906718 GRCh37 Chromosome X, 54481930: 54481930
17 FGD1 NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs387906718 GRCh38 Chromosome X, 54455497: 54455497
18 FGD1 NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter) single nucleotide variant Pathogenic rs398124155 GRCh37 Chromosome X, 54494270: 54494270
19 FGD1 NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter) single nucleotide variant Pathogenic rs398124155 GRCh38 Chromosome X, 54467837: 54467837
20 FGD1 NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs398124156 GRCh37 Chromosome X, 54492158: 54492158
21 FGD1 NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs398124156 GRCh38 Chromosome X, 54465725: 54465725
22 FGD1 NM_004463.2(FGD1): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs398124160 GRCh37 Chromosome X, 54521691: 54521691
23 FGD1 NM_004463.2(FGD1): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs398124160 GRCh38 Chromosome X, 54495258: 54495258
24 FGD1 NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs) insertion Pathogenic rs398124161 GRCh37 Chromosome X, 54476127: 54476128
25 FGD1 NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs) insertion Pathogenic rs398124161 GRCh38 Chromosome X, 54449694: 54449695
26 FGD1 NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs) duplication Pathogenic rs398124162 GRCh37 Chromosome X, 54476105: 54476105
27 FGD1 NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs) duplication Pathogenic rs398124162 GRCh38 Chromosome X, 54449672: 54449672
28 FGD1 NM_004463.2(FGD1): c.2016-2A> G single nucleotide variant Pathogenic rs794727099 GRCh37 Chromosome X, 54476736: 54476736
29 FGD1 NM_004463.2(FGD1): c.2016-2A> G single nucleotide variant Pathogenic rs794727099 GRCh38 Chromosome X, 54450303: 54450303
30 FGD1 NM_004463.2(FGD1): c.527dup (p.Leu177Thrfs) duplication Pathogenic/Likely pathogenic rs756586058 GRCh37 Chromosome X, 54497148: 54497148
31 FGD1 NM_004463.2(FGD1): c.527dup (p.Leu177Thrfs) duplication Pathogenic/Likely pathogenic rs756586058 GRCh38 Chromosome X, 54470715: 54470715
32 FGD1 NM_004463.2(FGD1): c.2761C> T (p.Arg921Ter) single nucleotide variant Uncertain significance rs869312743 GRCh38 Chromosome X, 54446234: 54446234
33 FGD1 NM_004463.2(FGD1): c.2761C> T (p.Arg921Ter) single nucleotide variant Uncertain significance rs869312743 GRCh37 Chromosome X, 54472667: 54472667
34 FGD1 NM_004463.2(FGD1): c.527delC (p.Pro176Hisfs) deletion Pathogenic rs780428919 GRCh37 Chromosome X, 54497148: 54497148
35 FGD1 NM_004463.2(FGD1): c.527delC (p.Pro176Hisfs) deletion Pathogenic rs780428919 GRCh38 Chromosome X, 54470715: 54470715
36 FGD1 NM_004463.2(FGD1): c.892dup (p.Cys298Leufs) duplication Likely pathogenic GRCh38 Chromosome X, 54470225: 54470225
37 FGD1 NM_004463.2(FGD1): c.892dup (p.Cys298Leufs) duplication Likely pathogenic GRCh37 Chromosome X, 54496658: 54496658
38 FGD1 NM_004463.2(FGD1): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 54497098: 54497098
39 FGD1 NM_004463.2(FGD1): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 54470665: 54470665

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:

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

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 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.78 ARHGEF2 FGD1 FGD3 MCF2
2 positive regulation of apoptotic process GO:0043065 9.71 ARHGEF2 FGD1 FGD3 MCF2
3 regulation of molecular function GO:0065009 9.67 ARHGEF2 FGD1 FGD3 MCF2
4 cytoskeleton organization GO:0007010 9.63 FGD1 FGD3 FGD6
5 actin cytoskeleton organization GO:0030036 9.62 CDC42 FGD1 FGD3 FGD6
6 regulation of GTPase activity GO:0043087 9.61 FGD1 FGD3 FGD6
7 regulation of cell shape GO:0008360 9.56 CDC42 FGD1 FGD3 FGD6
8 actin filament organization GO:0007015 9.49 ARHGEF2 CDC42
9 regulation of small GTPase mediated signal transduction GO:0051056 9.35 ARHGEF2 CDC42 FGD1 FGD3 MCF2
10 filopodium assembly GO:0046847 9.33 FGD1 FGD3 FGD6
11 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 for Aarskog-Scott Syndrome

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