AAS
MCID: ARS001
MIFTS: 52

Aarskog-Scott Syndrome (AAS) malady

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

Aliases & Classifications for Aarskog-Scott Syndrome

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Aliases & Descriptions for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome 52 11 24 25 54 70 12
Aarskog Syndrome 11 48 24 25 54 50 39 13 68
Faciogenital Dysplasia 11 48 24 25 54 70
Faciodigitogenital Syndrome 48 24 54 70
Aarskog Disease 48 27
Aas 25 70
 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 70
Facio-Digito-Genital Dysplasia 25
Scott Aarskog Syndrome 48
Aarskog Scott Syndrome 48
Greig's Syndrome 11
Fgdy 48

Characteristics:

Orphanet epidemiological data:

54
aarskog syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: any age

HPO:

64
aarskog-scott syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 305400
Disease Ontology11 DOID:6683
ICD1030 Q87.1
SNOMED-CT62 14921002, 205809002
Orphanet54 ORPHA915
UMLS via Orphanet69 C0175701
ICD10 via Orphanet31 Q87.1

Summaries for Aarskog-Scott Syndrome

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OMIM:52 Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature,... (305400) more...

MalaCards based summary: Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to amyloidosis aa and helsmoortel-van der aa syndrome, and has symptoms including Array, Array and Array. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways are Nectin adhesion pathway and Adherens junction. Affiliated tissues include heart, skin and endothelial.

Disease Ontology:11 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:48 Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. intellectual development may also be affected. about 20 percent of people with aarskog-scott syndrome have mutations in the fgd1 gene. the cause in other affected individuals is unknown. the condition is inherited in an x-linked recessive pattern. last updated: 9/7/2011

UniProtKB/Swiss-Prot:70 Aarskog-Scott syndrome: A rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.

Related Diseases for Aarskog-Scott Syndrome

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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 112)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis aa12.2
2helsmoortel-van der aa syndrome12.1
3faciodigitogenital syndrome, autosomal recessive11.8
4alopecia areata11.7
5adnp syndrome11.4
6aplastic anemia11.1
7hydrocephalus, sprengel anomaly, and costovertebral dysplasia11.0
8renal nutcracker syndrome11.0
9superior mesenteric artery syndrome10.9
10sveinsson choreoretinal atrophy10.9
117q11.23 duplication syndrome10.9
12scott syndrome10.8
13greig cephalopolysyndactyly syndrome10.8
14amyloidosis, hereditary, transthyretin-related10.8
15chromosome 7q11.23 duplication syndrome10.8
16adnp-related intellectual disability and autism spectrum disorder10.7
17amyloidosis10.4
18attention deficit-hyperactivity disorder10.1
19arthropathy10.1
20myopathy10.1
21cerebrovascular disease10.1
22polymicrogyria10.1
23endotheliitis10.1
24unilateral focal polymicrogyria10.1
25trichothiodystrophy 2, photosensitive10.0CDC42, MCF2
26arthritis9.9
27rheumatoid arthritis9.8
28al amyloidosis9.8
29spastic paraplegia 26, autosomal recessive9.8CDC42, FGD4
30leukemia9.7
31isolated growth hormone deficiency9.7
32spastic hemiplegia9.7
33hemiplegia9.7
34growth hormone deficiency9.7
35metatarsus adductus9.7
36spasticity9.7
37prostatitis9.7
38prostate cancer9.6
39pulmonary hypertension9.6
40lymphoma9.6
41sarcoma9.6
42nephrotic syndrome9.6
43dermatitis9.6
44cerebritis9.6
45obesity9.6
46alopecia9.6
47arteriovenous malformation9.6
48atopic dermatitis9.6
49myositis9.6
50thyroiditis9.6

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



Diseases related to aarskog-scott syndrome

Symptoms & Phenotypes for Aarskog-Scott Syndrome

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Symptoms by clinical synopsis from OMIM:

305400

Clinical features from OMIM:

305400

Human phenotypes related to Aarskog-Scott Syndrome:

 54 64 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia64 54 Frequent (79-30%) HP:0000023
2 cryptorchidism64 54 Frequent (79-30%) HP:0000028
3 shawl scrotum64 54 Very frequent (99-80%) HP:0000049
4 abnormality of the teeth54 Occasional (29-5%)
5 cleft palate64 54 Occasional (29-5%) HP:0000175
6 oral cleft54 Occasional (29-5%)
7 cleft upper lip64 54 Occasional (29-5%) HP:0000204
8 everted lower lip vermilion64 54 Very frequent (99-80%) HP:0000232
9 epicanthus64 54 Occasional (29-5%) HP:0000286
10 round face64 54 Occasional (29-5%) HP:0000311
11 hypertelorism64 54 Very frequent (99-80%) HP:0000316
12 hypoplasia of the maxilla64 54 Occasional (29-5%) HP:0000327
13 broad forehead64 54 Frequent (79-30%) HP:0000337
14 long philtrum64 54 Frequent (79-30%) HP:0000343
15 low-set, posteriorly rotated ears64 54 Frequent (79-30%) HP:0000368
16 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
17 anteverted nares64 54 Frequent (79-30%) HP:0000463
18 short neck64 54 Occasional (29-5%) HP:0000470
19 megalocornea64 54 Occasional (29-5%) HP:0000485
20 strabismus64 54 Occasional (29-5%) HP:0000486
21 downslanted palpebral fissures64 54 Frequent (79-30%) HP:0000494
22 ptosis64 54 Frequent (79-30%) HP:0000508
23 delayed eruption of teeth64 54 Occasional (29-5%) HP:0000684
24 behavioral abnormality54 Occasional (29-5%)
25 pectus excavatum64 54 Occasional (29-5%) HP:0000767
26 single transverse palmar crease64 54 Occasional (29-5%) HP:0000954
27 hyperextensible skin64 54 Frequent (79-30%) HP:0000974
28 broad palm64 54 Very frequent (99-80%) HP:0001169
29 umbilical hernia64 54 Very frequent (99-80%) HP:0001537
30 congestive heart failure64 54 Occasional (29-5%) HP:0001635
31 pes planus64 54 Occasional (29-5%) HP:0001763
32 broad foot64 54 Very frequent (99-80%) HP:0001769
33 short foot64 54 Very frequent (99-80%) HP:0001773
34 talipes64 54 Occasional (29-5%) HP:0001883
35 malformation of the heart and great vessels54 Occasional (29-5%)
36 genu recurvatum64 54 Occasional (29-5%) HP:0002816
37 abnormality of the cervical spine54 Occasional (29-5%)
38 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
39 short palm64 54 Very frequent (99-80%) HP:0004279
40 short stature64 54 Very frequent (99-80%) HP:0004322
41 abnormal vertebral segmentation and fusion64 54 Occasional (29-5%) HP:0005640
42 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
43 finger syndactyly64 54 Frequent (79-30%) HP:0006101
44 attention deficit hyperactivity disorder64 54 Occasional (29-5%) HP:0007018
45 external ear malformation64 54 Frequent (79-30%) HP:0008572
46 high anterior hairline64 54 Frequent (79-30%) HP:0009890
47 camptodactyly of finger64 54 Very frequent (99-80%) HP:0100490
48 cognitive impairment64 54 Frequent (79-30%) HP:0100543
49 small hand64 54 Very frequent (99-80%) HP:0200055
50 broad philtrum64 HP:0000289
51 widow's peak64 HP:0000349
52 hypermetropia64 HP:0000540
53 hypodontia64 HP:0000668
54 delayed puberty64 HP:0000823
55 brachydactyly syndrome64 HP:0001156
56 syndactyly64 HP:0001159
57 hyperextensibility of the finger joints64 HP:0001187
58 intellectual disability64 HP:0001249
59 failure to thrive64 HP:0001508
60 prominent umbilicus64 HP:0001544
61 curved linear dimple below the lower lip64 HP:0002055
62 scoliosis64 HP:0002650
63 short nose64 HP:0003196
64 hypoplasia of the odontoid process64 HP:0003311
65 cervical spine hypermobility64 HP:0003318
66 mild short stature64 HP:0003502
67 radial deviation of finger64 HP:0009466
68 large earlobe64 HP:0009748
69 increased upper to lower segment ratio64 HP:0012774
70 clinodactyly64 HP:0030084
71 abnormality of cardiovascular system morphology64 HP:0030680

Drugs & Therapeutics for Aarskog-Scott Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Neuroserpin3
2AstragalusNutraceutical55

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationUnknown statusNCT00916903

Search NIH Clinical Center for Aarskog-Scott Syndrome


Cochrane evidence based reviews: aarskog syndrome

Genetic Tests for Aarskog-Scott Syndrome

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Genetic tests related to Aarskog-Scott Syndrome:

id Genetic test Affiliating Genes
1 Aarskog Syndrome27 24 FGD1

Anatomical Context for Aarskog-Scott Syndrome

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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

36
Heart, Skin, Endothelial

Publications for Aarskog-Scott Syndrome

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Articles related to Aarskog-Scott Syndrome:

(show all 32)
idTitleAuthorsYear
1
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. (28103835)
2017
2
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. (27551683)
2016
3
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. (27544718)
2016
4
Aarskog-Scott syndrome presenting with psychosis: A case study. (25911513)
2015
5
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. (26029706)
2015
6
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. (24770546)
2014
7
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). (25227149)
2014
8
A novel mutation in a mother and a son with Aarskog-Scott syndrome. (23443263)
2013
9
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. (23211637)
2013
10
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. (23169394)
2013
11
Aarskog-Scott syndrome. (23673187)
2013
12
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. (22211847)
2012
13
Mania with Aarskog-Scott syndrome. (22565081)
2012
14
Aarskog-scott syndrome: a review and case report. (25206170)
2012
15
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. (21739585)
2011
16
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. (21911474)
2011
17
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). (21654724)
2011
18
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. (20082460)
2010
19
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. (19110080)
2009
20
Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)
2007
21
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
22
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. (17152066)
2007
23
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)
2006
24
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)
2006
25
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
26
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
27
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (10930571)
2000
28
Sperm acrosome defects in a patient with Aarskog-Scott syndrome. (8985497)
1996
29
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (7810566)
1994
30
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (7954831)
1994
31
The Aarskog-Scott syndrome in four brothers. (1227529)
1975
32
Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. (1227568)
1975

Variations for Aarskog-Scott Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1FGD1p.Arg522HisVAR_015236rs137853264
2FGD1p.Arg610GlnVAR_015237rs28935497
3FGD1p.Ser205IleVAR_019268
4FGD1p.Glu380AlaVAR_019270
5FGD1p.Arg443HisVAR_019271

Clinvar genetic disease variations for Aarskog-Scott Syndrome:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1FGD1FGD1, 1-BP INS, 2122GinsertionPathogenic
2FGD1NM_ 004463.2(FGD1): c.1829G> A (p.Arg610Gln)SNVPathogenicrs28935497GRCh37Chr X, 54482666: 54482666
3FGD1NM_ 004463.2(FGD1): c.1565G> A (p.Arg522His)SNVPathogenicrs137853264GRCh37Chr X, 54491955: 54491955
4FGD1FGD1, EX9-12DELdeletionPathogenic
5FGD1FGD1, 1-BP INS, 528CinsertionPathogenic
6FGD1NM_ 004463.2(FGD1): c.1223G> A (p.Arg408Gln)SNVPathogenicrs137853265GRCh37Chr X, 54494334: 54494334
7FGD1FGD1, 1-BP DEL, 2189AdeletionPathogenic
8FGD1NM_ 004463.2(FGD1): c.1328G> T (p.Arg443Leu)SNVPathogenicrs137853266GRCh37Chr X, 54494229: 54494229
9FGD1FGD1, 1-BP INS, 945CinsertionPathogenic
10FGD1NM_ 004463.2(FGD1): c.1396A> G (p.Met466Val)SNVPathogenicrs137853267GRCh37Chr X, 54492230: 54492230
11FGD1NM_ 004463.2(FGD1): c.2016-2A> GSNVPathogenicrs794727099GRCh37Chr X, 54476736: 54476736
12FGD1NM_ 004463.2(FGD1): c.527dupC (p.Leu177Thrfs)duplicationPathogenicrs756586058GRCh37Chr X, 54497148: 54497148
13FGD1NM_ 004463.2(FGD1): c.1966C> T (p.Arg656Ter)SNVPathogenicrs387906718GRCh37Chr X, 54481930: 54481930
14FGD1NM_ 004463.2(FGD1): c.527delC (p.Pro176Hisfs)deletionPathogenicrs780428919GRCh38Chr X, 54470715: 54470715
15FGD1NM_ 004463.2(FGD1): c.1287T> G (p.Tyr429Ter)SNVPathogenicrs398124155GRCh37Chr X, 54494270: 54494270
16FGD1NM_ 004463.2(FGD1): c.1468C> T (p.Gln490Ter)SNVPathogenicrs398124156GRCh37Chr X, 54492158: 54492158
17FGD1NM_ 004463.2(FGD1): c.175C> T (p.Gln59Ter)SNVPathogenicrs398124160GRCh37Chr X, 54521691: 54521691
18FGD1NM_ 004463.2(FGD1): c.2112_ 2113insTT (p.Asn705Leufs)insertionPathogenicrs398124161GRCh37Chr X, 54476127: 54476128
19FGD1NM_ 004463.2(FGD1): c.2135dupC (p.Pro713Thrfs)duplicationPathogenicrs398124162GRCh37Chr X, 54476105: 54476105

Expression for genes affiliated with Aarskog-Scott Syndrome

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

Pathways for genes affiliated with Aarskog-Scott Syndrome

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GO Terms for genes affiliated with Aarskog-Scott Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1filopodiumGO:003017510.0CDC42, FGD4
2lamellipodiumGO:00300279.6FGD1, FGD3, FGD4
3ruffleGO:00017269.1FGD1, FGD3, FGD4
4cytoskeletonGO:00058568.4CDC42, FARP2, FGD1, FGD3, FGD4, MCF2
5cytosolGO:00058298.2CDC42, FARP2, FGD1, FGD3, FGD4, MCF2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cytoskeleton organizationGO:00070109.8FGD1, FGD3, FGD4
2regulation of cell shapeGO:00083609.7FGD1, FGD3, FGD4
3regulation of GTPase activityGO:00430879.7FGD1, FGD3, FGD4
4actin cytoskeleton organizationGO:00300369.3CDC42, FGD1, FGD3, FGD4
5filopodium assemblyGO:00468479.3CDC42, FGD1, FGD3, FGD4
6positive regulation of apoptotic processGO:00430659.3FGD1, FGD3, FGD4, MCF2
7positive regulation of GTPase activityGO:00435478.7FARP2, FGD1, FGD3, FGD4, MCF2
8regulation of Rho protein signal transductionGO:00350238.6FARP2, FGD1, FGD3, FGD4, MCF2
9regulation of small GTPase mediated signal transductionGO:00510568.1CDC42, FGD1, FGD3, FGD4, MCF2

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

idNameGO IDScoreTop Affiliating Genes
1guanyl-nucleotide exchange factor activityGO:00050859.1FGD1, FGD3, FGD4, MCF2
2small GTPase bindingGO:00312679.1FGD1, FGD3, FGD4
3Rho guanyl-nucleotide exchange factor activityGO:00050898.4FARP2, FGD1, FGD3, FGD4, MCF2

Sources for Aarskog-Scott Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet