AAS
MCID: ARS001
MIFTS: 63

Aarskog-Scott Syndrome (AAS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories
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Summaries for Aarskog-Scott Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to b-cell lymphomas and leukemia, and has symptoms including anomalies of hands, simian crease/transverse/unique palmar crease and round face. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF and PH domain containing 1), and among its related pathways are Cytoskeletal Signaling and EGFR1 Signaling Pathway. The compounds Guanosine monophosphate and Guanosine diphosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and skin.

Disease Ontology:8 A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.

Genetics Home Reference:21 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.

Description from OMIM:47 305400,100050

Aliases & Classifications for Aarskog-Scott Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 58SNOMED-CT, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
aarskog-scott syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

aarskog-scott syndrome 8 9 21 47 10 49
aarskog syndrome 8 43 21 45 49 62
faciogenital dysplasia 8 43 21 49
aarskog disease 43 20 22
faciodigitogenital syndrome 43 49
facio-digito-genital dysplasia 21
aarskog scott syndrome 43
scott aarskog syndrome 43
greig's syndrome 8
fgdy 43
aas 21


External Ids:

Disease Ontology8 DOID:6683
MeSH35 C535331
SNOMED-CT58 205809002, 14921002
UMLS via Orphanet63 C0175701
SNOMED-CT via Orphanet59 14921002
ICD10 via Orphanet26 Q87.1

Related Diseases for Aarskog-Scott Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

100050

Clinical features from OMIM:

305400,100050

Symptoms:

49 (show all 49)
  • anomalies of hands
  • simian crease/transverse/unique palmar crease
  • round face
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • clinodactyly of fifth finger
  • cleft lip and palate
  • external ear anomalies
  • broad forehead
  • talipes-varus/metatarsal varus
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • everted lower lip
  • megalocornea
  • shawl scrotum
  • broad foot
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • hyperelastic skin/cutaneous hyperlaxity
  • cleft lip
  • camptodactyly of some fingers
  • small hand/acromicria
  • anomalies of spine, vertebrae and pelvis
  • high hair line (front)/widow peak
  • hyperactivity/attention deficit
  • x-linked recessive inheritance
  • flat foot
  • anomalies of teeth and dentition
  • umbilical hernia
  • psychic/behavioural troubles
  • inguinal/inguinoscrotal/crural hernia
  • ptosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • syndactyly of fingers/interdigital palm
  • pectus excavatum
  • short neck
  • low set ears/posteriorly rotated ears
  • anteverted nares/nostrils
  • short stature/dwarfism/nanism
  • long philtrum
  • genu recurvatum
  • broad nasal root
  • short foot/brachydactyly of toes
  • strabismus/squint
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • hyperextensible joints/articular hyperlaxity
  • short hand/brachydactyly
  • heart/cardiac failure
  • epicanthic folds
  • congenital cardiac anomaly/malformation/cardiopathy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hypertelorism

Drugs & Therapeutics for Aarskog-Scott Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Aarskog-Scott Syndrome

Search NIH Clinical Center for Aarskog-Scott Syndrome

Genetic Tests for Aarskog-Scott Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Aarskog-Scott Syndrome:

id Genetic test Affiliating Genes
1 Aarskog Syndrome20 22 FGD1

Anatomical Context for Aarskog-Scott Syndrome

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33MalaCards
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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

33
Testes, Bone, Skin, Heart, Endothelial

Animal Models for Aarskog-Scott Syndrome or affiliated genes

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Publications for Aarskog-Scott Syndrome

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52PubMed
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Articles related to Aarskog-Scott Syndrome:

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

Variations for Aarskog-Scott Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Aarskog-Scott Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FGD1p.Arg522HisVAR_015236
2FGD1p.Arg610GlnVAR_015237rs28935497
3FGD1p.Ser205IleVAR_019268
4FGD1p.Glu380AlaVAR_019270
5FGD1p.Arg443HisVAR_019271

Clinvar genetic disease variations for Aarskog-Scott Syndrome:

1 (show all 11)
id Gene Name 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.1966C> T (p.Arg656Ter)single nucleotide variantPathogenicrs387906718GRCh37Chr X, 54481930: 54481930

Expression for genes affiliated with Aarskog-Scott Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aarskog-Scott Syndrome

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

Pathways for genes affiliated with Aarskog-Scott Syndrome

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50PathCards, 5Cell Signaling Technology, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 60Thomson Reuters, 55Reactome
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Pathways related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CDC42, MCF2
29.3CDC42, MCF2
3
Show member pathways
9.0FGD3, FGD1, CDC42
4
Show member pathways
9.0FGD3, FGD1, CDC42
58.9MCF2, FGD1, CDC42
68.9MCF2, CDC42, FGD1
7
Show member pathways
8.5FGD1, FGD3, MCF2, CDC42
8
Show member pathways
8.5FGD3, FGD1, CDC42, MCF2
9
Show member pathways
8.5MCF2, CDC42, FGD1, FGD3
10
Show member pathways
8.5FGD3, FGD1, CDC42, MCF2

Compounds for genes affiliated with Aarskog-Scott Syndrome

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24HMDB, 45Novoseek, 11DrugBank, 29IUPHAR
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Compounds related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1Guanosine monophosphate249.4MCF2, CDC42
2Guanosine diphosphate249.3CDC42, MCF2
3guanosine 5-o-(3-thiotriphosphate)459.3CDC42, PLEK
4pip2459.3PLEK, CDC42
5guanosine45 24 1111.3PLEK, CDC42
6guanine45 24 1111.2CDC42, MCF2
7phosphatidylinositol-3,4,5-trisphosphate45 2410.2CDC42, PLEK
8phosphatidylserine45 29 1111.1CDC42, PLEK
9agar459.0CDC42, MCF2
10gdp458.8CDC42, PLEK, MCF2
11gtp45 299.8MCF2, PLEK, CDC42
12arginine458.7MCF2, PLEK, CDC42
13threonine458.7CDC42, MCF2, PLEK
14cysteine458.7MCF2, CDC42, PLEK
15lipid458.5PLEK, MCF2, CDC42
16Guanosine triphosphate248.2FGD5, MCF2, FGD3, FGD1, CDC42

GO Terms for genes affiliated with Aarskog-Scott Syndrome

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16Gene Ontology
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Cellular components related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ruffleGO:0017269.2FGD3, FGD5, FGD1
2lamellipodiumGO:0300279.2FGD3, FGD1, FGD5
3Golgi apparatusGO:0057949.1FGD3, FGD1, FGD5
4ruffle membraneGO:0325879.0FGD5, PLEK
5cytoskeletonGO:0058568.7MCF2, FGD3, FGD1, FGD5
6cytosolGO:0058297.6MCF2, PLEK, CDC42, FGD1, FGD3
7cytoplasmGO:0057377.3PLEK, FGD5, FGD1, FGD3, CDC42

Biological processes related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of Cdc42 GTPase activityGO:0430889.3FGD5, FGD3, FGD1
2cytoskeleton organizationGO:0070109.2FGD3, FGD1, FGD5
3positive regulation of apoptotic processGO:0430659.1FGD3, FGD1, MCF2
4regulation of cell shapeGO:0083609.1FGD5, FGD3, FGD1
5apoptotic signaling pathwayGO:0971909.0FGD1, FGD3, MCF2
6neurotrophin TRK receptor signaling pathwayGO:0480118.8FGD1, FGD3, MCF2
7filopodium assemblyGO:0468478.7CDC42, FGD3, FGD1, FGD5
8regulation of small GTPase mediated signal transductionGO:0510568.6FGD1, FGD3, MCF2, CDC42
9actin cytoskeleton organizationGO:0300368.6CDC42, FGD5, FGD1, FGD3
10small GTPase mediated signal transductionGO:0072648.6FGD1, FGD3, CDC42, MCF2

Molecular functions related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1guanyl-nucleotide exchange factor activityGO:0050859.1FGD5, FGD1, FGD3
2small GTPase bindingGO:0312678.8FGD1, FGD3, FGD5
3Rho guanyl-nucleotide exchange factor activityGO:0050898.5FGD5, FGD3, FGD1, MCF2

Products for genes affiliated with Aarskog-Scott Syndrome

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  • Antibodies
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Sources for Aarskog-Scott Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet