AAS
MCID: ARS001
MIFTS: 55

Aarskog-Scott Syndrome (AAS) malady

Neuronal, Cardiovascular, Skin, Fetal categories

Summaries for Aarskog-Scott Syndrome

Sources:
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 scott syndrome and amyloidosis, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and short neck. 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 endothelial.

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

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Cardiovascular, Skin


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 61
faciogenital dysplasia 8 43 21 49
aarskog disease 43 20 22
faciodigitogenital syndrome 43 49
facio-digito-genital dysplasia 21
aarskog scott syndrome 43
greig's syndrome 8
fgdy 43
aas 21


External Ids:

Disease Ontology8 DOID:6683
SNOMED-CT57 205809002, 14921002
MeSH35 C535331
ICD10 via Orphanet26 Q87.1

Related Diseases for Aarskog-Scott Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Aarskog-Scott Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1scott syndrome11.0
2amyloidosis10.9
3fg syndrome10.8
4amyloidosis, renal10.5
5n syndrome10.4
6char syndrome10.4
7amyloidosis, secondary10.4
8arthritis10.4
9al amyloidosis10.3
10attention deficit hyperactivity disorder10.3
11hypermobility syndrome10.3
12arthropathy10.3
13polymicrogyria10.3
14short syndrome10.3
15short stature10.3
16unilateral polymicrogyria10.3
17unilateral focal polymicrogyria10.3
18amyloidosis aa10.3
19hydrocephalus, costovertebral dysplasia, and sprengel anomaly10.3
20castleman's disease10.2
21familial mediterranean fever10.2
22amyloid tumor10.2
23alopecia areata10.1
24aplastic anemia10.1
25crohn's disease10.1
26lattice corneal dystrophy10.1
27atopic dermatitis10.1
28protein-losing enteropathy10.1
29hereditary amyloidosis10.1
30renal nutcracker syndrome10.1
31rheumatic disease10.1
32localized castleman disease10.1
33spastic hemiplegia10.0
34greig cephalopolysyndactyly syndrome10.0
35fg syndrome 210.0
36growth hormone deficiency10.0
37metatarsus adductus10.0
38isolated growth hormone deficiency10.0
39parkinson's disease10.0
40superior mesenteric artery syndrome10.0
41hemoglobinuria10.0
42polycystic kidney disease10.0
43asthma10.0
44autosomal dominant disease10.0
45polycystic kidney disease, autosomal dominant10.0
46hyperlipidemia type 310.0
47multicentric castleman’s disease10.0
48paroxysmal nocturnal hemoglobinuria10.0
49microscopic polyangiitis10.0
50septic shock10.0

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



Diseases related to aarskog-scott syndrome

Clinical Features for Aarskog-Scott Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

305400,100050

Clinical synopsis from OMIM:

100050

Symptoms:

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

Drugs & Therapeutics for Aarskog-Scott Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

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

33
Endothelial

Animal Models for Aarskog-Scott Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Aarskog-Scott Syndrome

Sources:
51PubMed
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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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Aarskog-Scott Syndrome:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 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

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 12EMD Millipore, 4Cell Signaling Technology
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Compounds for genes affiliated with Aarskog-Scott Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1jasplakinolide45 6010.2CDC42, CTTN
2guanosine 5-o-(3-thiotriphosphate)459.2PLEK, CDC42
3gdp458.9CDC42, MCF2, PLEK, FGD4
4pip2458.9CTTN, PLEK, CDC42
5threonine458.6CTTN, CDC42, MCF2, PLEK
6gtp45 299.3CDC42, PLEK, FGD4, MCF2, CTTN

GO Terms for genes affiliated with Aarskog-Scott Syndrome

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet