AAS
MCID: ARS001
MIFTS: 65

Aarskog-Scott Syndrome (AAS) malady

Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Summaries for Aarskog-Scott Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 amyloidosis and arthritis, and has symptoms including simian crease/transverse/unique palmar crease, cleft lip and palate and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF and PH domain containing 1), and among its related pathways are Sema4D in semaphorin signaling and Nectin adhesion pathway. The compounds jasplakinolide and guanosine 5-o-(3-thiotriphosphate) have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and bone.

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:46 305400,100050

Aliases & Classifications for Aarskog-Scott Syndrome

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8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 42NIH Rare Diseases, 44Novoseek, 60UMLS, 20GeneTests, 22GTR, 34MeSH, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46 10 48
aarskog syndrome 8 42 21 44 48 60
faciogenital dysplasia 8 42 21 48
aarskog disease 42 20 22
faciodigitogenital syndrome 42 48
facio-digito-genital dysplasia 21
aarskog scott syndrome 42
greig's syndrome 8
fgdy 42
aas 21


External Ids:

Disease Ontology8 DOID:6683
MeSH34 C535331
SNOMED-CT56 205809002, 14921002
SNOMED-CT via Orphanet57 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

Clinical Features for Aarskog-Scott Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

305400,100050

Clinical synopsis from OMIM:

100050

Symptoms:

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

Drugs & Therapeutics for Aarskog-Scott Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Aarskog-Scott Syndrome

Drug clinical trials:

Search ClinicalTrials for Aarskog-Scott Syndrome

Search NIH Clinical Center for Aarskog-Scott Syndrome

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

32
Testes, Skin, Bone, Heart, Endothelial

Animal Models for Aarskog-Scott Syndrome or affiliated genes

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Publications for Aarskog-Scott Syndrome

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50PubMed
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Articles related to Aarskog-Scott Syndrome:

(show all 25)
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
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. (17506099)
2007
14
Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)
2007
15
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
16
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)
2006
17
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)
2006
18
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
19
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
20
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (10930571)
2000
21
Sperm acrosome defects in a patient with Aarskog-Scott syndrome. (8985497)
1996
22
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (7810566)
1994
23
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (7954831)
1994
24
The Aarskog-Scott syndrome in four brothers. (1227529)
1975
25
Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. (1227568)
1975

Genetic Variations for Aarskog-Scott Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Aarskog-Scott Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FGD1p.Arg522HisVAR_015236
2FGD1p.Arg610GlnVAR_015237rs28935497
3FGD1p.Ser205IleVAR_019268
4FGD1p.Glu380AlaVAR_019270
5FGD1p.Arg443HisVAR_019271

Expression for genes affiliated with Aarskog-Scott Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aarskog-Scott Syndrome

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Pathways for genes affiliated with Aarskog-Scott Syndrome

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53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology
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Compounds for genes affiliated with Aarskog-Scott Syndrome

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44Novoseek, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1jasplakinolide44 5910.2CDC42, CTTN
2guanosine 5-o-(3-thiotriphosphate)449.2PLEK, CDC42
3gdp448.9CDC42, MCF2, PLEK, FGD4
4pip2448.9CTTN, PLEK, CDC42
5threonine448.6CTTN, CDC42, MCF2, PLEK
6gtp44 289.3CDC42, PLEK, FGD4, MCF2, CTTN

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
1filopodiumGO:0301759.6FGD4, CDC42
2ruffle membraneGO:0325878.6FGD2, FGD5, PLEK
3Golgi apparatusGO:0057947.9FGD2, FGD3, FGD1, FGD4, FGD5
4ruffleGO:0017267.7CTTN, FGD2, FGD3, FGD1, FGD4, FGD5
5lamellipodiumGO:0300277.7FGD5, FGD4, FGD1, FGD3, CTTN, FGD2
6cytosolGO:0058297.4FGD3, PLEK, FGD4, FARP2, CDC42, MCF2
7cytoskeletonGO:0058567.2CTTN, FARP2, NEXN, MCF2, FGD2, FGD3
8cytoplasmGO:0057375.9SLC2A4RG, CTTN, CDC42, FGD2, FGD3, FGD1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of Rho protein signal transductionGO:0350239.8MCF2, FARP2
2actin cytoskeleton reorganizationGO:0315329.4PLEK, FARP2
3apoptotic signaling pathwayGO:0971908.8MCF2, FGD2, FGD3, FGD1, FGD4
4positive regulation of apoptotic processGO:0430658.7MCF2, FGD2, FGD3, FGD1, FGD4
5neurotrophin TRK receptor signaling pathwayGO:0480118.6MCF2, FGD2, FGD3, FGD1, FGD4
6regulation of Cdc42 GTPase activityGO:0430888.4FGD2, FGD3, FGD1, FGD4, FGD5
7regulation of small GTPase mediated signal transductionGO:0510568.4CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
8cytoskeleton organizationGO:0070108.3FGD2, FGD3, FGD1, FGD4, FGD5
9regulation of cell shapeGO:0083608.3FGD2, FGD3, FGD1, FGD4, FGD5
10small GTPase mediated signal transductionGO:0072648.2CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
11filopodium assemblyGO:0468477.9FGD5, FGD4, FGD1, FGD3, FGD2, CDC42
12actin cytoskeleton organizationGO:0300367.9CDC42, FGD2, FGD3, FGD1, FGD4, FGD5

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

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:0312678.2FGD2, FGD3, FGD1, FGD4, FGD5
2guanyl-nucleotide exchange factor activityGO:0050857.9FGD2, FGD3, FGD1, FGD4, FGD5
3metal ion bindingGO:0468727.8SLC2A4RG, FGD5, FGD4, FGD1, FGD3, FGD2
4Rho guanyl-nucleotide exchange factor activityGO:0050897.6FGD5, FGD4, FGD1, FGD3, FGD2, MCF2
5phospholipid bindingGO:0055437.4FARP2, MCF2, FGD2, FGD3, FGD1, FGD4

Products for genes affiliated with Aarskog-Scott Syndrome

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Sources for Aarskog-Scott Syndrome

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3CDC
13ExPASy
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
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43NINDS
44Novoseek
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47OMIM via Orphanet
50PubMed
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57SNOMED-CT via Orphanet
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61UMLS via Orphanet