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 50 11 23 24 13 52 68 12
Aarskog Syndrome 11 46 23 24 52 48 37 66
Faciogenital Dysplasia 11 46 23 24 52 68
Faciodigitogenital Syndrome 46 23 52 68
Aarskog Disease 46 25
Aas 24 68
 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 68
Facio-Digito-Genital Dysplasia 24
Scott Aarskog Syndrome 46
Aarskog Scott Syndrome 46
Greig's Syndrome 11
Fgdy 46

Characteristics:

Orphanet epidemiological data:

52
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:

62
aarskog-scott syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 305400
Disease Ontology11 DOID:6683
ICD1028 Q87.1
SNOMED-CT60 14921002, 205809002
Orphanet52 ORPHA915
ICD10 via Orphanet29 Q87.1
UMLS via Orphanet67 C0175701

Summaries for Aarskog-Scott Syndrome

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OMIM:50 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 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.

NIH Rare Diseases:46 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:68 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.

Genetics Home Reference:24 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.

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 90)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis aa12.3
2helsmoortel-van der aa syndrome12.1
3faciodigitogenital syndrome, autosomal recessive11.9
4alopecia areata11.4
5adnp syndrome11.2
6aplastic anemia11.2
7hydrocephalus, sprengel anomaly, and costovertebral dysplasia11.1
87q11.23 duplication syndrome11.0
9scott syndrome10.9
10greig cephalopolysyndactyly syndrome10.9
11sveinsson choreoretinal atrophy10.9
12adnp-related intellectual disability and autism spectrum disorder10.9
13amyloidosis10.5
14attention deficit-hyperactivity disorder10.2
15arthropathy10.2
16myopathy10.2
17cerebrovascular disease10.2
18polymicrogyria10.2
19endotheliitis10.2
20unilateral focal polymicrogyria10.2
21superior mesenteric artery syndrome10.0
22hyperlipidemia type 310.0
23arthritis10.0
24rheumatoid arthritis10.0
25al amyloidosis10.0
26amyloidosis, hereditary, transthyretin-related9.9
27chromosome 7q11.23 duplication syndrome9.9
28xeroderma pigmentosum, group b9.9CDC42, MCF2
29leukemia9.9
30prostatitis9.8
31spastic hemiplegia9.8
32hemiplegia9.8
33isolated growth hormone deficiency9.8
34growth hormone deficiency9.8
35metatarsus adductus9.8
36spasticity9.8
37prostate cancer9.8
38lymphoma9.8
39nephrotic syndrome9.8
40dermatitis9.8
41obesity9.7
42alopecia9.7
43sarcoma9.7
44arteriovenous malformation9.7
45atopic dermatitis9.7
46cerebritis9.7
47myositis9.7
48thyroiditis9.7
49breast cancer9.7
50crohn's disease9.7

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

Symptoms:

 52 (show all 49)
  • inguinal hernia
  • cryptorchidism
  • shawl scrotum
  • abnormality of the teeth
  • cleft palate
  • oral cleft
  • cleft upper lip
  • everted lower lip vermilion
  • epicanthus
  • round face
  • hypertelorism
  • hypoplasia of the maxilla
  • broad forehead
  • long philtrum
  • low-set, posteriorly rotated ears
  • wide nasal bridge
  • anteverted nares
  • short neck
  • megalocornea
  • strabismus
  • downslanted palpebral fissures
  • ptosis
  • delayed eruption of teeth
  • behavioral abnormality
  • pectus excavatum
  • single transverse palmar crease
  • hyperextensible skin
  • broad palm
  • umbilical hernia
  • congestive heart failure
  • pes planus
  • broad foot
  • short foot
  • talipes
  • malformation of the heart and great vessels
  • genu recurvatum
  • abnormality of the cervical spine
  • clinodactyly of the 5th finger
  • short palm
  • short stature
  • abnormal vertebral segmentation and fusion
  • joint hyperflexibility
  • finger syndactyly
  • attention deficit hyperactivity disorder
  • external ear malformation
  • high anterior hairline
  • camptodactyly of finger
  • cognitive impairment
  • small hand

HPO human phenotypes related to Aarskog-Scott Syndrome:

(show all 82)
id Description Frequency HPO Source Accession
1 shawl scrotum hallmark (90%) HP:0000049
2 everted lower lip vermilion hallmark (90%) HP:0000232
3 hypertelorism hallmark (90%) HP:0000316
4 brachydactyly syndrome hallmark (90%) HP:0001156
5 umbilical hernia hallmark (90%) HP:0001537
6 broad foot hallmark (90%) HP:0001769
7 short toe hallmark (90%) HP:0001831
8 short palm hallmark (90%) HP:0004279
9 short stature hallmark (90%) HP:0004322
10 camptodactyly of finger hallmark (90%) HP:0100490
11 cryptorchidism typical (50%) HP:0000028
12 broad forehead typical (50%) HP:0000337
13 long philtrum typical (50%) HP:0000343
14 low-set, posteriorly rotated ears typical (50%) HP:0000368
15 wide nasal bridge typical (50%) HP:0000431
16 anteverted nares typical (50%) HP:0000463
17 downslanted palpebral fissures typical (50%) HP:0000494
18 ptosis typical (50%) HP:0000508
19 hyperextensible skin typical (50%) HP:0000974
20 joint hypermobility typical (50%) HP:0001382
21 clinodactyly of the 5th finger typical (50%) HP:0004209
22 finger syndactyly typical (50%) HP:0006101
23 external ear malformation typical (50%) HP:0008572
24 high anterior hairline typical (50%) HP:0009890
25 cognitive impairment typical (50%) HP:0100543
26 cleft palate occasional (7.5%) HP:0000175
27 cleft upper lip occasional (7.5%) HP:0000204
28 epicanthus occasional (7.5%) HP:0000286
29 round face occasional (7.5%) HP:0000311
30 short neck occasional (7.5%) HP:0000470
31 megalocornea occasional (7.5%) HP:0000485
32 strabismus occasional (7.5%) HP:0000486
33 delayed eruption of teeth occasional (7.5%) HP:0000684
34 pectus excavatum occasional (7.5%) HP:0000767
35 single transverse palmar crease occasional (7.5%) HP:0000954
36 congestive heart failure occasional (7.5%) HP:0001635
37 pes planus occasional (7.5%) HP:0001763
38 talipes occasional (7.5%) HP:0001883
39 genu recurvatum occasional (7.5%) HP:0002816
40 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
41 inguinal hernia HP:0000023
42 cryptorchidism HP:0000028
43 shawl scrotum HP:0000049
44 cleft palate HP:0000175
45 cleft upper lip HP:0000204
46 broad philtrum HP:0000289
47 round face HP:0000311
48 hypertelorism HP:0000316
49 hypoplasia of the maxilla HP:0000327
50 widow's peak HP:0000349
51 wide nasal bridge HP:0000431
52 anteverted nares HP:0000463
53 short neck HP:0000470
54 strabismus HP:0000486
55 downslanted palpebral fissures HP:0000494
56 ptosis HP:0000508
57 hypermetropia HP:0000540
58 hypodontia HP:0000668
59 pectus excavatum HP:0000767
60 delayed puberty HP:0000823
61 single transverse palmar crease HP:0000954
62 brachydactyly syndrome HP:0001156
63 syndactyly HP:0001159
64 broad palm HP:0001169
65 hyperextensibility of the finger joints HP:0001187
66 intellectual disability HP:0001249
67 failure to thrive HP:0001508
68 prominent umbilicus HP:0001544
69 broad foot HP:0001769
70 short foot HP:0001773
71 curved linear dimple below the lower lip HP:0002055
72 scoliosis HP:0002650
73 short nose HP:0003196
74 hypoplasia of the odontoid process HP:0003311
75 cervical spine hypermobility HP:0003318
76 mild short stature HP:0003502
77 short palm HP:0004279
78 attention deficit hyperactivity disorder HP:0007018
79 radial deviation of finger HP:0009466
80 large earlobe HP:0009748
81 increased upper to lower segment ratio HP:0012774
82 clinodactyly HP:0030084

Drugs & Therapeutics for Aarskog-Scott Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

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 Syndrome25 23 FGD1

Anatomical Context for Aarskog-Scott Syndrome

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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

34
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:

68
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, 2122GinsertionPathogenic
2FGD1NM_004463.2(FGD1): c.1829G> A (p.Arg610Gln)single nucleotide variantPathogenicrs28935497GRCh37Chr X, 54482666: 54482666
3FGD1NM_004463.2(FGD1): c.1565G> A (p.Arg522His)single nucleotide variantPathogenicrs137853264GRCh37Chr X, 54491955: 54491955
4FGD1FGD1, EX9-12DELdeletionPathogenic
5FGD1FGD1, 1-BP INS, 528CinsertionPathogenic
6FGD1NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln)single nucleotide variantPathogenicrs137853265GRCh37Chr X, 54494334: 54494334
7FGD1FGD1, 1-BP DEL, 2189AdeletionPathogenic
8FGD1NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu)single nucleotide variantPathogenicrs137853266GRCh37Chr X, 54494229: 54494229
9FGD1FGD1, 1-BP INS, 945CinsertionPathogenic
10FGD1NM_004463.2(FGD1): c.1396A> G (p.Met466Val)single nucleotide variantPathogenicrs137853267GRCh37Chr X, 54492230: 54492230
11FGD1NM_004463.2(FGD1): c.2016-2A> Gsingle nucleotide variantPathogenicrs794727099GRCh37Chr X, 54476736: 54476736
12FGD1NM_004463.2(FGD1): c.527dupC (p.Leu177Thrfs)duplicationPathogenicrs756586058GRCh37Chr X, 54497148: 54497148
13FGD1NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter)single nucleotide variantPathogenicrs387906718GRCh37Chr X, 54481930: 54481930
14FGD1NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter)single nucleotide variantPathogenicrs398124155GRCh37Chr X, 54494270: 54494270
15FGD1NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter)single nucleotide variantPathogenicrs398124156GRCh37Chr X, 54492158: 54492158
16FGD1NM_004463.2(FGD1): c.175C> T (p.Gln59Ter)single nucleotide variantPathogenicrs398124160GRCh37Chr 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:00301759.8CDC42, FGD4
2ruffleGO:00017269.6FGD1, FGD3, FGD4
3lamellipodiumGO:00300279.2FGD1, FGD3, FGD4
4cytoskeletonGO:00058568.9FARP2, 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:00070109.0FGD1, FGD3, FGD4
4actin cytoskeleton organizationGO:00300368.9CDC42, FGD1, FGD3, FGD4
5filopodium assemblyGO:00468478.9CDC42, FGD1, FGD3, FGD4
6positive regulation of apoptotic processGO:00430658.7FGD1, FGD3, FGD4, MCF2
7regulation of small GTPase mediated signal transductionGO:00510568.5CDC42, FGD1, FGD3, FGD4, MCF2
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:00050897.7FARP2, FGD1, FGD3, FGD4, MCF2

Sources for Aarskog-Scott Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet