AAS
MCID: ARS001
MIFTS: 57

Aarskog-Scott Syndrome (AAS)

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

Aliases & Classifications for Aarskog-Scott Syndrome

MalaCards integrated aliases for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome 56 12 12 74 25 58 73 36 13
Aarskog Syndrome 12 74 52 25 58 29 54 6 43 15 71
Faciodigitogenital Syndrome 56 12 52 25 58 73
Faciogenital Dysplasia 56 12 52 25 58 73
Fgdy 56 52 25
Aas 56 25 73
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 73
Facio-Digito-Genital Dysplasia 25
Faciogenital Dysplasia; Fgdy 56
Aarskog Syndrome, X-Linked 56
X-Linked Aarskog Syndrome 12
Aarskog-Scott Syndrome ) 39
Aarskog Scott Syndrome 52
Scott Aarskog Syndrome 52
Greig's Syndrome 12
Aarskog Disease 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
x-linked recessive

Miscellaneous:
normal fertility


HPO:

31
aarskog-scott syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Aarskog-Scott Syndrome

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. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). The intellectual development of people with Aarskog-Scott syndrome varies widely. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.

MalaCards based summary : Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to unilateral focal polymicrogyria and helsmoortel-van der aa syndrome. 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 p75 NTR receptor-mediated signalling. The drug Astragalus has been mentioned in the context of this disorder. Affiliated tissues include heart, skin and eye, and related phenotypes are hypertelorism and umbilical hernia

Disease Ontology : 12 A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS.

UniProtKB/Swiss-Prot : 73 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 : 74 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 614)
# Related Disease Score Top Affiliating Genes
1 unilateral focal polymicrogyria 30.9 FGD1 ARHGEF2
2 helsmoortel-van der aa syndrome 12.8
3 amyloidosis aa 12.8
4 aarskog syndrome, autosomal dominant 12.7
5 faciodigitogenital syndrome, autosomal recessive 12.5
6 aplastic anemia 12.2
7 alopecia areata 12.2
8 williams-beuren region duplication syndrome 11.8
9 adnp-related intellectual disability and autism spectrum disorder 11.5
10 amyloidosis, hereditary, transthyretin-related 11.5
11 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.5
12 sveinsson chorioretinal atrophy 11.4
13 renal nutcracker syndrome 11.4
14 7q11.23 duplication syndrome 11.3
15 superior mesenteric artery syndrome 11.3
16 hydroxykynureninuria 11.2
17 scott syndrome 11.1
18 amyloidosis 11.1
19 nephrotic syndrome 10.6
20 brucellosis 10.5
21 familial mediterranean fever 10.5
22 attention deficit-hyperactivity disorder 10.5
23 brachydactyly 10.5
24 greig cephalopolysyndactyly syndrome 10.5
25 abnormal hair, joint laxity, and developmental delay 10.5
26 generalized epilepsy with febrile seizures plus 10.4
27 al amyloidosis 10.4
28 end stage renal disease 10.4
29 alcohol dependence 10.4
30 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.3
31 hypertelorism 10.3
32 noonan syndrome 1 10.3
33 hemifacial microsomia 10.3
34 cryptorchidism, unilateral or bilateral 10.3
35 short syndrome 10.3
36 agammaglobulinemia, x-linked 10.3
37 astigmatism 10.3
38 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
39 scoliosis 10.3
40 robinow syndrome 10.3
41 suppression amblyopia 10.3
42 amblyopia 10.3
43 agammaglobulinemia 10.3
44 arthropathy 10.3
45 pseudohypoparathyroidism 10.3
46 myopathy 10.3
47 infertility 10.3
48 cerebrovascular disease 10.3
49 hypermobile ehlers-danlos syndrome 10.3
50 polymicrogyria 10.3

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:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 very rare (1%) Very frequent (99-80%) HP:0000316
2 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
3 short stature 58 31 very rare (1%) Very frequent (99-80%) HP:0004322
4 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
5 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
6 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
7 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
8 broad foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001769
9 shawl scrotum 58 31 very rare (1%) Very frequent (99-80%) HP:0000049
10 broad palm 58 31 very rare (1%) Very frequent (99-80%) HP:0001169
11 short palm 58 31 very rare (1%) Very frequent (99-80%) HP:0004279
12 inguinal hernia 58 31 very rare (1%) Frequent (79-30%) HP:0000023
13 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
14 anteverted nares 58 31 very rare (1%) Frequent (79-30%) HP:0000463
15 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
16 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
17 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
18 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
19 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
20 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
21 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
22 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
23 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
24 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
25 high anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0009890
26 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
27 hyperextensible skin 58 31 frequent (33%) Frequent (79-30%) HP:0000974
28 short neck 58 31 very rare (1%) Occasional (29-5%) HP:0000470
29 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
30 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
31 genu recurvatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002816
32 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
33 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
34 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
35 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
36 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
37 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
38 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
39 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
40 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
41 megalocornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000485
42 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
43 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
44 abnormal vertebral segmentation and fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005640
45 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
46 global developmental delay 31 very rare (1%) HP:0001263
47 short nose 31 very rare (1%) HP:0003196
48 intellectual disability, mild 31 very rare (1%) HP:0001256
49 broad philtrum 31 very rare (1%) HP:0000289
50 short 5th finger 31 very rare (1%) HP:0009237

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia
prominent umbilicus

Skeletal Spine:
scoliosis
cervical spine hypermobility
odontoid hypoplasia

Head And Neck Mouth:
cleft palate
cleft lip

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Teeth:
hypodontia

Genitourinary External Genitalia Male:
shawl scrotum

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

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

Head And Neck Ears:
fleshy earlobes

Skeletal Feet:
short broad feet

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

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly
single transverse palmar crease
clinodactyly
mild syndactyly
short, broad hands
more
Head And Neck Face:
round face
curved linear dimple below the lower lip
maxillary hypoplasia
wide philtrum

Skin Nails Hair Skin:
single transverse palmar crease

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.7 NEXN
2 Decreased viability GR00055-A-2 9.7 NEXN
3 Decreased viability GR00381-A-1 9.7 ARHGAP21 CDC42 FGD4 FGD5 FGD6 MCF2
4 Decreased viability GR00402-S-2 9.7 FGD4
5 Increased epidermal growth factor receptor (EGFR) surface abundance GR00355-A 8.8 FARP2 FGD5 FGD6

Drugs & Therapeutics for Aarskog-Scott Syndrome

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


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

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:

40
Heart, Skin, Eye, Testes, Bone, Endothelial

Publications for Aarskog-Scott Syndrome

Articles related to Aarskog-Scott Syndrome:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. 6 61 56
20082460 2010
2
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. 6 56 61
17847065 2007
3
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 56 6 61
15809997 2005
4
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 6 56 61
11940089 2002
5
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. 61 56 6
11093277 2000
6
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). 56 61 6
10930571 2000
7
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. 61 56 6
7954831 1994
8
The facial-digital-genital (Aarskog) syndrome. 56 61 6
4146757 1973
9
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). 61 6
21654724 2011
10
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. 61 56
21739585 2011
11
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. 61 6
17152066 2007
12
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 61 6
16688726 2006
13
Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 61 6
16353258 2006
14
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. 61 6
14560308 2004
15
Intelligence and development in Aarskog syndrome. 61 56
9875050 1998
16
Congenital heart defects in Aarskog syndrome. 61 56
8209909 1994
17
Umbilical findings in Aarskog syndrome. 61 56
8076412 1994
18
Megadolichosigmoid in a young male with Aarskog syndrome. 61 56
8031541 1994
19
Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323. 61 56
8268928 1993
20
Aarskog syndrome: report of a family with review and discussion of nosology. 56 61
8322809 1993
21
Dolichomegasigmoid in Aarskog syndrome. 56 61
8418649 1993
22
Atypical case of Aarskog syndrome. 56 61
1583665 1992
23
Aarskog syndrome: the changing phenotype with age. 56 61
1605221 1992
24
Aarskog syndrome. 61 56
1999832 1991
25
Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics. 56 61
3359689 1988
26
Umbilical dysmorphology. The importance of contemplating the belly button. 61 56
4064369 1985
27
Aarskog syndrome: full male and female expression associated with an X-autosome translocation. 61 56
6711610 1984
28
Anomalous cerebral venous drainage in Aarskog syndrome. 61 56
6705262 1984
29
Aarskog syndrome with isolated growth hormone deficiency. 61 56
7227381 1981
30
The Aarskog syndrome. 61 56
7446107 1980
31
The Aarskog syndrome. 56 61
6967282 1980
32
The Aarskog (facio-digito-genital) syndrome. 56 61
519896 1979
33
Aarskog syndrome. New findings and genetic analysis. 61 56
712980 1978
34
The Aarskog syndrome. 56 61
669698 1978
35
The Aarskog syndrome in three brothers. 61 56
4430151 1974
36
The Aarskog syndrome. 56 61
4643030 1972
37
Aarskog's syndrome. 56
7436535 1980
38
A familial syndrome of short stature associated with facial dysplasia and genital anomalies. 56
5504078 1970
39
Osteochondritis dissecans with associated malformations in two brothers. A review of familial aspects. 56
4382085 1967
40
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. 61
32381089 2020
41
Structure and function of the Fgd family of divergent FYVE domain proteins 1. 61
30308128 2019
42
Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature. 61
29689188 2018
43
Aarskog-Scott syndrome: An unusual cause of scoliosis. 61
29021683 2017
44
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. 61
28587322 2017
45
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. 61
28103835 2017
46
Identifying Aarskog Syndrome. 61
28209013 2016
47
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. 61
27544718 2016
48
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. 61
27551683 2016
49
Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population. 61
26848196 2015
50
Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome. 61
28663972 2015

Variations for Aarskog-Scott Syndrome

ClinVar genetic disease variations for Aarskog-Scott Syndrome:

6 (show all 30) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGD1 NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)SNV Pathogenic 694686 X:54491930-54491930 X:54465497-54465497
2 FGD1 NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)deletion Pathogenic 694679 X:54495266-54495268 X:54468833-54468835
3 FGD1 NM_004463.3(FGD1):c.1843-1G>ASNV Pathogenic 804011 X:54482218-54482218 X:54455785-54455785
4 FGD1 NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)SNV Pathogenic 804012 X:54492174-54492174 X:54465741-54465741
5 FGD1 NM_004463.3(FGD1):c.679del (p.Ser227fs)deletion Pathogenic 869445 X:54496871-54496871 X:54470438-54470438
6 FGD1 NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter)SNV Pathogenic 29974 rs387906718 X:54481930-54481930 X:54455497-54455497
7 FGD1 FGD1, 1-BP INS, 2122Ginsertion Pathogenic 10824
8 FGD1 NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)SNV Pathogenic 10825 rs28935497 X:54482666-54482666 X:54456233-54456233
9 FGD1 NM_004463.3(FGD1):c.1565G>A (p.Arg522His)SNV Pathogenic 10826 rs137853264 X:54491955-54491955 X:54465522-54465522
10 FGD1 FGD1, EX9-12DELdeletion Pathogenic 10827
11 FGD1 NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)SNV Pathogenic 10830 rs137853265 X:54494334-54494334 X:54467901-54467901
12 FGD1 FGD1, 1-BP DEL, 2189Adeletion Pathogenic 10831
13 FGD1 NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu)SNV Pathogenic 10832 rs137853266 X:54494229-54494229 X:54467796-54467796
14 FGD1 NM_004463.3(FGD1):c.944dup (p.Ala316fs)duplication Pathogenic 10833 rs1569541255 X:54496605-54496606 X:54470172-54470173
15 FGD1 NM_004463.3(FGD1):c.1396A>G (p.Met466Val)SNV Pathogenic 10834 rs137853267 X:54492230-54492230 X:54465797-54465797
16 FGD1 NM_004463.3(FGD1):c.527del (p.Pro176fs)deletion Pathogenic 374329 rs756586058 X:54497148-54497148 X:54470715-54470715
17 FGD1 NM_004463.3(FGD1):c.527dup (p.Leu177fs)duplication Pathogenic/Likely pathogenic 196389 rs756586058 X:54497147-54497148 X:54470714-54470715
18 FGD1 NM_004463.3(FGD1):c.277dup (p.Tyr93fs)duplication Likely pathogenic 547364 rs1557191567 X:54521588-54521589 X:54495155-54495156
19 FGD1 NM_004463.3(FGD1):c.892dup (p.Cys298fs)duplication Likely pathogenic 488057 rs1557189608 X:54496657-54496658 X:54470224-54470225
20 FGD1 NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu)SNV Likely pathogenic 547365 rs1557189455 X:54494316-54494316 X:54467883-54467883
21 FGD1 NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)SNV Likely pathogenic 547370 rs1269514277 X:54472700-54472700 X:54446267-54446267
22 FGD1 NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)SNV Conflicting interpretations of pathogenicity 10828 rs28935498 X:54496615-54496615 X:54470182-54470182
23 FGD1 NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg)SNV Uncertain significance 547369 rs1557188473 X:54481890-54481890 X:54455457-54455457
24 FGD1 NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser)SNV Uncertain significance 547368 rs1557188567 X:54482762-54482762 X:54456329-54456329
25 FGD1 NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup)duplication Uncertain significance 547366 rs1557189266 X:54492178-54492179 X:54465745-54465746
26 FGD1 NM_004463.3(FGD1):c.437A>G (p.Gln146Arg)SNV Uncertain significance 804013 X:54497791-54497791 X:54471358-54471358
27 FGD1 NM_004463.3(FGD1):c.386G>A (p.Gly129Asp)SNV Uncertain significance 804014 X:54497842-54497842 X:54471409-54471409
28 FGD1 NM_004463.3(FGD1):c.598C>T (p.Pro200Ser)SNV Uncertain significance 547979 rs773941303 X:54497077-54497077 X:54470644-54470644
29 FGD1 NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter)SNV Uncertain significance 224655 rs869312743 X:54472667-54472667 X:54446234-54446234
30 FGD1 NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)SNV Benign/Likely benign 95092 rs145644275 X:54497833-54497833 X:54471400-54471400

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

73
# 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

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:

36
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 MCF2 FGD4 FGD3 FGD1 CDC42 ARHGEF2
2 12.4 WASL FGD3 FGD1 CDC42
3
Show member pathways
12.22 WASL CTTN CDC42 ARHGEF2
4 12.21 WASL MCF2 CTTN CDC42 ARHGEF2
5 12.18 WASL CTTN CDC42 ARHGEF2
6
Show member pathways
12.14 WASL MCF2 FGD4 FGD3 FGD1 CTTN
7 12.02 WASL CTTN CDC42 ARHGEF2
8 11.95 CTTN CDC42 ARHGEF2
9 11.77 WASL CDC42 ARHGEF2
10 11.52 WASL CTTN CDC42
11 11.48 WASL FARP2 CDC42
12 11.26 WASL CDC42 ARHGEF2
13 11.15 WASL CTTN CDC42
14 10.96 FARP2 CDC42
15 10.96 MCF2 FGD4 FGD1 CDC42
16 10.91 WASL CDC42
17 10.73 MCF2 FGD1 FARP2 CDC42

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 cytoplasm GO:0005737 10.19 ZFYVE16 WASL VASH2 PLEK NEXN MCF2
2 cytosol GO:0005829 10.15 ZFYVE16 WASL PLEK MCF2 FGD4 FGD3
3 Golgi apparatus GO:0005794 9.97 FGD6 FGD5 FGD4 FGD3 FGD1 CTTN
4 cell projection GO:0042995 9.91 FGD5 FGD4 FGD1 CTTN CDC42 ARHGEF2
5 focal adhesion GO:0005925 9.78 NEXN CTTN CDC42 ARHGEF2
6 ruffle GO:0001726 9.63 FGD6 FGD5 FGD4 FGD3 FGD1 CTTN
7 ruffle membrane GO:0032587 9.58 PLEK FGD5 ARHGEF2
8 lamellipodium GO:0030027 9.5 WASL FGD6 FGD5 FGD4 FGD3 FGD1
9 cytoskeleton GO:0005856 9.5 WASL VASH2 NEXN MCF2 FGD6 FGD5
10 podosome GO:0002102 9.46 CTTN ARHGEF2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.8 MCF2 FGD4 FGD3 FGD1 ARHGEF2
2 actin cytoskeleton organization GO:0030036 9.8 WASL FGD6 FGD5 FGD4 FGD3 FGD1
3 cytoskeleton organization GO:0007010 9.77 FGD6 FGD5 FGD4 FGD3 FGD1
4 regulation of GTPase activity GO:0043087 9.72 FGD6 FGD5 FGD4 FGD3 FGD1
5 actin filament organization GO:0007015 9.7 WASL CDC42 ARHGEF2
6 regulation of cell shape GO:0008360 9.7 WASL FGD6 FGD5 FGD4 FGD3 FGD1
7 actin cytoskeleton reorganization GO:0031532 9.61 PLEK FARP2 CTTN
8 positive regulation of filopodium assembly GO:0051491 9.54 WASL CDC42
9 dendritic spine morphogenesis GO:0060997 9.51 WASL CDC42
10 regulation of small GTPase mediated signal transduction GO:0051056 9.5 MCF2 FGD4 FGD3 FGD1 CDC42 ARHGEF2
11 vesicle organization GO:0016050 9.49 ZFYVE16 WASL
12 establishment of Golgi localization GO:0051683 9.48 CDC42 ARHGAP21
13 organelle transport along microtubule GO:0072384 9.46 CDC42 ARHGAP21
14 filopodium assembly GO:0046847 9.1 FGD6 FGD5 FGD4 FGD3 FGD1 CDC42

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.62 WASL VASH2 NEXN FGD4
2 guanyl-nucleotide exchange factor activity GO:0005085 9.56 MCF2 FGD6 FGD5 FGD4 FGD3 FGD1
3 small GTPase binding GO:0031267 9.55 FGD6 FGD5 FGD4 FGD3 FGD1
4 Rac guanyl-nucleotide exchange factor activity GO:0030676 9.26 FARP2 ARHGEF2
5 Rho guanyl-nucleotide exchange factor activity GO:0005089 9.23 MCF2 FGD6 FGD5 FGD4 FGD3 FGD1

Sources for Aarskog-Scott Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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