MCID: ARS001
MIFTS: 52

Aarskog-Scott Syndrome 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 51 11 24 25 53 69 12 13
Aarskog Syndrome 11 47 24 25 53 49 38 67
Faciogenital Dysplasia 11 47 24 25 53 69
Faciodigitogenital Syndrome 47 24 53 69
Aarskog Disease 47 26
Aas 25 69
 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 69
Facio-Digito-Genital Dysplasia 25
Scott Aarskog Syndrome 47
Aarskog Scott Syndrome 47
Greig's Syndrome 11
Fgdy 47

Characteristics:

Orphanet epidemiological data:

53
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

HPO:

63
aarskog-scott syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM51 305400
Disease Ontology11 DOID:6683
ICD1029 Q87.1
SNOMED-CT61 14921002, 205809002
Orphanet53 ORPHA915
UMLS via Orphanet68 C0175701
ICD10 via Orphanet30 Q87.1

Summaries for Aarskog-Scott Syndrome

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OMIM:51 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 helsmoortel-van der aa syndrome and amyloidosis aa, and has symptoms including shawl scrotum, everted lower lip vermilion and hypertelorism. 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.

UniProtKB/Swiss-Prot:69 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 96)
idRelated DiseaseScoreTop Affiliating Genes
1helsmoortel-van der aa syndrome12.1
2amyloidosis aa12.0
3faciodigitogenital syndrome, autosomal recessive11.8
4aplastic anemia11.1
5alopecia areata11.1
6renal nutcracker syndrome11.0
7hydrocephalus, sprengel anomaly, and costovertebral dysplasia11.0
8superior mesenteric artery syndrome10.9
9hyperlipidemia type 310.9
107q11.23 duplication syndrome10.9
11scott syndrome10.8
12amyloidosis, hereditary, transthyretin-related10.8
13chromosome 7q11.23 duplication syndrome10.8
14greig cephalopolysyndactyly syndrome10.8
15sveinsson choreoretinal atrophy10.7
16adnp-related intellectual disability and autism spectrum disorder10.7
17adnp syndrome10.7
18amyloidosis10.4
19attention deficit-hyperactivity disorder10.1
20arthropathy10.1
21myopathy10.1
22polymicrogyria10.1
23endotheliitis10.1
24unilateral focal polymicrogyria10.1
25arthritis9.9
26xeroderma pigmentosum, group b9.9CDC42, MCF2
27rheumatoid arthritis9.8
28al amyloidosis9.8
29leukemia9.7
30spastic hemiplegia9.7
31hemiplegia9.7
32growth hormone deficiency9.7
33isolated growth hormone deficiency9.7
34metatarsus adductus9.7
35spasticity9.7
36prostatitis9.7
37prostate cancer9.7
38pulmonary hypertension9.7
39lymphoma9.7
40dermatitis9.7
41cerebritis9.7
42obesity9.6
43alopecia9.6
44sarcoma9.6
45arteriovenous malformation9.6
46atopic dermatitis9.6
47myositis9.6
48thyroiditis9.6
49neuropathy9.6
50breast cancer9.5

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



Diseases related to aarskog-scott syndrome

Symptoms 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:

 63 53 (show all 72)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 shawl scrotum63 53 hallmark (90%) Very frequent (99-80%) HP:0000049
2 everted lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000232
3 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
4 brachydactyly syndrome63 hallmark (90%) HP:0001156
5 umbilical hernia63 53 hallmark (90%) Very frequent (99-80%) HP:0001537
6 broad foot63 53 hallmark (90%) Very frequent (99-80%) HP:0001769
7 short toe63 hallmark (90%) HP:0001831
8 short palm63 53 hallmark (90%) Very frequent (99-80%) HP:0004279
9 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
10 camptodactyly of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0100490
11 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
12 broad forehead63 53 typical (50%) Frequent (79-30%) HP:0000337
13 long philtrum63 53 typical (50%) Frequent (79-30%) HP:0000343
14 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
15 wide nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0000431
16 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
17 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
18 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
19 hyperextensible skin63 53 typical (50%) Frequent (79-30%) HP:0000974
20 joint hypermobility63 typical (50%) HP:0001382
21 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
22 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
23 external ear malformation63 53 typical (50%) Frequent (79-30%) HP:0008572
24 high anterior hairline63 53 typical (50%) Frequent (79-30%) HP:0009890
25 cognitive impairment63 53 typical (50%) Frequent (79-30%) HP:0100543
26 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
27 cleft upper lip63 53 occasional (7.5%) Occasional (29-5%) HP:0000204
28 epicanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000286
29 round face63 53 occasional (7.5%) Occasional (29-5%) HP:0000311
30 short neck63 53 occasional (7.5%) Occasional (29-5%) HP:0000470
31 megalocornea63 53 occasional (7.5%) Occasional (29-5%) HP:0000485
32 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
33 delayed eruption of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0000684
34 pectus excavatum63 53 occasional (7.5%) Occasional (29-5%) HP:0000767
35 single transverse palmar crease63 53 occasional (7.5%) Occasional (29-5%) HP:0000954
36 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
37 pes planus63 53 occasional (7.5%) Occasional (29-5%) HP:0001763
38 talipes63 53 occasional (7.5%) Occasional (29-5%) HP:0001883
39 genu recurvatum63 53 occasional (7.5%) Occasional (29-5%) HP:0002816
40 attention deficit hyperactivity disorder63 53 occasional (7.5%) Occasional (29-5%) HP:0007018
41 inguinal hernia63 53 Frequent (79-30%) HP:0000023
42 broad philtrum63 HP:0000289
43 hypoplasia of the maxilla63 53 Occasional (29-5%) HP:0000327
44 widow's peak63 HP:0000349
45 hypermetropia63 HP:0000540
46 hypodontia63 HP:0000668
47 delayed puberty63 HP:0000823
48 syndactyly63 HP:0001159
49 broad palm63 53 Very frequent (99-80%) HP:0001169
50 hyperextensibility of the finger joints63 HP:0001187
51 intellectual disability63 HP:0001249
52 failure to thrive63 HP:0001508
53 prominent umbilicus63 HP:0001544
54 short foot63 53 Very frequent (99-80%) HP:0001773
55 curved linear dimple below the lower lip63 HP:0002055
56 scoliosis63 HP:0002650
57 short nose63 HP:0003196
58 hypoplasia of the odontoid process63 HP:0003311
59 cervical spine hypermobility63 HP:0003318
60 mild short stature63 HP:0003502
61 radial deviation of finger63 HP:0009466
62 large earlobe63 HP:0009748
63 increased upper to lower segment ratio63 HP:0012774
64 clinodactyly63 HP:0030084
65 abnormality of the teeth53 Occasional (29-5%)
66 oral cleft53 Occasional (29-5%)
67 behavioral abnormality53 Occasional (29-5%)
68 malformation of the heart and great vessels53 Occasional (29-5%)
69 abnormality of the cervical spine53 Occasional (29-5%)
70 abnormal vertebral segmentation and fusion53 Occasional (29-5%)
71 joint hyperflexibility53 Frequent (79-30%)
72 small hand53 Very frequent (99-80%)

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
2AstragalusNutraceutical52

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 Syndrome26 24 FGD1

Anatomical Context for Aarskog-Scott Syndrome

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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

35
Heart, Skin, Endothelial

Animal Models for Aarskog-Scott Syndrome or affiliated genes

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Publications for Aarskog-Scott Syndrome

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Articles related to Aarskog-Scott Syndrome:

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

Variations for Aarskog-Scott Syndrome

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

69
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 18)
id Gene Variation Type Significance SNP ID Assembly Location
1FGD1FGD1, 1-BP INS, 2122GinsertionPathogenicChr na, -1: -1
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, EX9-12DELdeletionPathogenicChr na, -1: -1
5FGD1FGD1, 1-BP INS, 528CinsertionPathogenicChr na, -1: -1
6FGD1NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln)SNVPathogenicrs137853265GRCh37Chr X, 54494334: 54494334
7FGD1FGD1, 1-BP DEL, 2189AdeletionPathogenicChr na, -1: -1
8FGD1NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu)SNVPathogenicrs137853266GRCh37Chr X, 54494229: 54494229
9FGD1FGD1, 1-BP INS, 945CinsertionPathogenicChr na, -1: -1
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.1287T> G (p.Tyr429Ter)SNVPathogenicrs398124155GRCh37Chr X, 54494270: 54494270
15FGD1NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter)SNVPathogenicrs398124156GRCh37Chr X, 54492158: 54492158
16FGD1NM_004463.2(FGD1): c.175C> T (p.Gln59Ter)SNVPathogenicrs398124160GRCh37Chr X, 54521691: 54521691
17FGD1NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs)insertionPathogenicrs398124161GRCh37Chr X, 54476127: 54476128
18FGD1NM_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:00301759.7CDC42, FGD4
2ruffleGO:00017269.6FGD1, FGD3, FGD4
3lamellipodiumGO:00300278.8FGD1, FGD3, FGD4
4cytoskeletonGO:00058568.8FARP2, FGD1, FGD3, MCF2
5cytosolGO:00058297.6CDC42, 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
1regulation of GTPase activityGO:00430879.5FGD1, FGD3, FGD4
2regulation of cell shapeGO:00083609.4FGD1, FGD3, FGD4
3cytoskeleton organizationGO:00070109.1FGD1, FGD3, FGD4
4filopodium assemblyGO:00468479.0CDC42, FGD1, FGD3, FGD4
5regulation of small GTPase mediated signal transductionGO:00510568.5CDC42, FGD1, FGD3, FGD4, MCF2
6positive regulation of apoptotic processGO:00430658.4FGD1, FGD3, FGD4, MCF2
7actin cytoskeleton organizationGO:00300368.3CDC42, FGD1, FGD3, FGD4
8regulation of Rho protein signal transductionGO:00350238.2FARP2, FGD1, FGD3, FGD4, MCF2
9positive regulation of GTPase activityGO:00435478.0FARP2, FGD1, FGD3, FGD4, MCF2

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

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:00312679.4FGD1, FGD3, FGD4
2guanyl-nucleotide exchange factor activityGO:00050858.5FGD1, FGD3, FGD4, MCF2
3Rho guanyl-nucleotide exchange factor activityGO:00050898.1FARP2, FGD1, FGD3, FGD4, MCF2

Sources for Aarskog-Scott Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet