MCID: ARS001
MIFTS: 55

Aarskog-Scott Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Aarskog-Scott Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 47Novoseek, 65UMLS, 36MeSH, 22GeneTests, 24GTR, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome 49 10 11 23 12 51 67
Aarskog Syndrome 10 45 23 47 51 65 36
Faciogenital Dysplasia 10 45 22 23 51 67
Faciodigitogenital Syndrome 45 22 51 67
Aarskog Disease 45 22 24
Scott Aarskog Syndrome 45 22
 
Aas 23 67
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 67
Facio-Digito-Genital Dysplasia 23
Aarskog Scott Syndrome 45
Greig's Syndrome 10
Fgdy 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 305400
Disease Ontology10 DOID:6683
Orphanet51 915
SNOMED-CT59 205809002, 14921002
UMLS via Orphanet66 C0175701
ICD10 via Orphanet28 Q87.1

Summaries for Aarskog-Scott Syndrome

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OMIM:49 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 scott syndrome and amyloidosis, 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 Shigellosis and Regulation of actin cytoskeleton. Affiliated tissues include heart, skin and bone.

Disease Ontology:10 A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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:67 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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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:

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

HPO human phenotypes related to Aarskog-Scott Syndrome:

(show all 84)
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 malformation of the heart and great vessels occasional (7.5%) HP:0002564
40 genu recurvatum occasional (7.5%) HP:0002816
41 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
42 inguinal hernia HP:0000023
43 cryptorchidism HP:0000028
44 shawl scrotum HP:0000049
45 cleft palate HP:0000175
46 cleft upper lip HP:0000204
47 broad philtrum HP:0000289
48 round face HP:0000311
49 hypertelorism HP:0000316
50 hypoplasia of the maxilla HP:0000327
51 widow's peak HP:0000349
52 wide nasal bridge HP:0000431
53 anteverted nares HP:0000463
54 short neck HP:0000470
55 strabismus HP:0000486
56 downslanted palpebral fissures HP:0000494
57 ptosis HP:0000508
58 hypermetropia HP:0000540
59 hypodontia HP:0000668
60 pectus excavatum HP:0000767
61 delayed puberty HP:0000823
62 single transverse palmar crease HP:0000954
63 brachydactyly syndrome HP:0001156
64 syndactyly HP:0001159
65 broad palm HP:0001169
66 hyperextensibility of the finger joints HP:0001187
67 intellectual disability HP:0001249
68 x-linked recessive inheritance HP:0001419
69 failure to thrive HP:0001508
70 prominent umbilicus HP:0001544
71 broad foot HP:0001769
72 short foot HP:0001773
73 curved linear dimple below the lower lip HP:0002055
74 scoliosis HP:0002650
75 short nose HP:0003196
76 hypoplasia of the odontoid process HP:0003311
77 cervical spine hypermobility HP:0003318
78 mild short stature HP:0003502
79 short palm HP:0004279
80 attention deficit hyperactivity disorder HP:0007018
81 radial deviation of finger HP:0009466
82 large earlobe HP:0009748
83 increased upper to lower segment ratio HP:0012774
84 clinodactyly HP:0030084

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
1AstragalusNutraceutical43

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 Syndrome22 24 FGD1

Anatomical Context for Aarskog-Scott Syndrome

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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

33
Heart, Skin, Bone, Testes, 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 29)
idTitleAuthorsYear
1
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. (26029706)
2015
2
Aarskog-Scott syndrome presenting with psychosis: A case study. (25911513)
2015
3
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). (25227149)
2014
4
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. (24770546)
2014
5
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. (23169394)
2013
6
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. (23211637)
2013
7
A novel mutation in a mother and a son with Aarskog-Scott syndrome. (23443263)
2013
8
Aarskog-Scott syndrome. (23673187)
2013
9
Aarskog-scott syndrome: a review and case report. (25206170)
2012
10
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. (22211847)
2012
11
Mania with Aarskog-Scott syndrome. (22565081)
2012
12
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. (21911474)
2011
13
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). (21654724)
2011
14
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. (21739585)
2011
15
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. (20082460)
2010
16
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. (19110080)
2009
17
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. (17152066)
2007
18
Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)
2007
19
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
20
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)
2006
21
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)
2006
22
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
23
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
24
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (10930571)
2000
25
Sperm acrosome defects in a patient with Aarskog-Scott syndrome. (8985497)
1996
26
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (7810566)
1994
27
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (7954831)
1994
28
The Aarskog-Scott syndrome in four brothers. (1227529)
1975
29
Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. (1227568)
1975

Variations for Aarskog-Scott Syndrome

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

67
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:

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
1ruffleGO:00017269.5FGD1, FGD3, FGD4
2filopodiumGO:00301759.4CDC42, FGD4
3lamellipodiumGO:00300279.1FGD1, FGD3, FGD4
4cytoskeletonGO:00058568.0FARP2, FGD1, FGD3, MCF2
5cytosolGO:00058296.6BTRC, CDC42, FARP2, FGD1, FGD3, FGD4

Biological processes related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of GTPase activityGO:00430879.7FGD1, FGD3, FGD4
2regulation of cell shapeGO:00083609.5FGD1, FGD3, FGD4
3cytoskeleton organizationGO:00070109.1FGD1, FGD3, FGD4
4filopodium assemblyGO:00468479.1CDC42, FGD1, FGD3, FGD4
5apoptotic signaling pathwayGO:00971909.0FGD1, FGD3, FGD4, MCF2
6positive regulation of apoptotic processGO:00430659.0FGD1, FGD3, FGD4, MCF2
7actin cytoskeleton organizationGO:00300368.9CDC42, FGD1, FGD3, FGD4
8neurotrophin TRK receptor signaling pathwayGO:00480118.8FGD1, FGD3, FGD4, MCF2
9regulation of small GTPase mediated signal transductionGO:00510568.5CDC42, FGD1, FGD3, FGD4, MCF2
10regulation of Rho protein signal transductionGO:00350238.1FARP2, FGD1, FGD3, FGD4, MCF2
11small GTPase mediated signal transductionGO:00072647.8CDC42, FGD1, FGD3, FGD4, MCF2
12positive regulation of GTPase activityGO:00435477.7FARP2, FGD1, FGD3, FGD4, MCF2

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

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:00312679.5FGD1, FGD3, FGD4
2guanyl-nucleotide exchange factor activityGO:00050858.2FGD1, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet