AAS
MCID: ARS001
MIFTS: 64

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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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 based summary: Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to b-cell lymphomas and leukemia, and has symptoms including hypertelorism, everted lower lip and umbilical hernia. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF and PH domain containing 1), and among its related pathways are EGFR1 Signaling Pathway and Cytoskeletal Signaling. The compounds Guanosine monophosphate and Guanosine diphosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes.

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.

Descriptions from OMIM:46 100050,305400

Aliases & Classifications for Aarskog-Scott Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Aarskog-Scott Syndrome, Aliases & Descriptions:

Name: Aarskog-Scott Syndrome 8 9 21 46 10 48 62
Aarskog Syndrome 8 42 21 44 48 62
Faciogenital Dysplasia 8 42 21 48 62
Aarskog Disease 42 20 22 62
Faciodigitogenital Syndrome 42 48 62
Facio-Digito-Genital Dysplasia 21 62
 
Scott Aarskog Syndrome 42 62
Fgdy 42 62
Aarskog Scott Syndrome 42
Greig's Syndrome 8
Aas 21


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


External Ids:

Disease Ontology8 DOID:6683
MeSH34 C535331
SNOMED-CT57 205809002, 14921002
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0175701

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:

100050

Clinical features from OMIM:

100050,305400

Symptoms:

48 (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 126)
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 cryptorchidism HP:0000028
43 shawl scrotum HP:0000049
44 cleft palate HP:0000175
45 oral cleft HP:0000202
46 cleft upper lip HP:0000204
47 hypertelorism HP:0000316
48 hypoplasia of the maxilla HP:0000327
49 long philtrum HP:0000343
50 widow's peak HP:0000349
51 lop ear HP:0000394
52 wide nasal bridge HP:0000431
53 anteverted nares HP:0000463
54 hyperopic astigmatism HP:0000484
55 strabismus HP:0000486
56 downslanted palpebral fissures HP:0000494
57 ptosis HP:0000508
58 ophthalmoplegia HP:0000602
59 abnormality of the thorax HP:0000765
60 single transverse palmar crease HP:0000954
61 hyperextensible skin HP:0000974
62 lymphedema HP:0001004
63 brachydactyly syndrome HP:0001156
64 syndactyly HP:0001159
65 flexion contracture HP:0001371
66 ligamentous laxity HP:0001380
67 cirrhosis HP:0001394
68 x-linked inheritance HP:0001417
69 sex-limited autosomal dominant HP:0001470
70 pes planus HP:0001763
71 macrocytic anemia HP:0001972
72 anal atresia HP:0002023
73 curved linear dimple below the lower lip HP:0002055
74 hepatomegaly HP:0002240
75 genu recurvatum HP:0002816
76 cervical spine hypermobility HP:0003318
77 mild short stature HP:0003502
78 rectoperineal fistula HP:0004792
79 proximal finger joint hyperextensibility HP:0005190
80 interstitial pulmonary disease HP:0006530
81 radial deviation of finger HP:0009466
82 osteochondrosis dissecans HP:0010886
83 clinodactyly HP:0030084
84 inguinal hernia HP:0000023
85 cryptorchidism HP:0000028
86 shawl scrotum HP:0000049
87 cleft palate HP:0000175
88 cleft upper lip HP:0000204
89 broad philtrum HP:0000289
90 round face HP:0000311
91 hypertelorism HP:0000316
92 hypoplasia of the maxilla HP:0000327
93 widow's peak HP:0000349
94 wide nasal bridge HP:0000431
95 anteverted nares HP:0000463
96 short neck HP:0000470
97 strabismus HP:0000486
98 downslanted palpebral fissures HP:0000494
99 ptosis HP:0000508
100 hypermetropia HP:0000540
101 hypodontia HP:0000668
102 pectus excavatum HP:0000767
103 delayed puberty HP:0000823
104 single transverse palmar crease HP:0000954
105 brachydactyly syndrome HP:0001156
106 syndactyly HP:0001159
107 broad palm HP:0001169
108 intellectual disability HP:0001249
109 x-linked recessive inheritance HP:0001419
110 failure to thrive HP:0001508
111 prominent umbilicus HP:0001544
112 broad foot HP:0001769
113 short foot HP:0001773
114 curved linear dimple below the lower lip HP:0002055
115 scoliosis HP:0002650
116 short nose HP:0003196
117 hypoplasia of the odontoid process HP:0003311
118 cervical spine hypermobility HP:0003318
119 mild short stature HP:0003502
120 short palm HP:0004279
121 finger joint hyperextensibility HP:0006158
122 attention deficit hyperactivity disorder HP:0007018
123 radial deviation of finger HP:0009466
124 large earlobe HP:0009748
125 increased upper to lower segment ratio HP:0012774
126 clinodactyly HP:0030084

Drugs & Therapeutics for Aarskog-Scott Syndrome

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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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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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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

32
Bone, Skin, Testes, Heart, 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 27)
idTitleAuthorsYear
1
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). (25227149)
2014
2
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. (24770546)
2014
3
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. (23169394)
2013
4
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. (23211637)
2013
5
A novel mutation in a mother and a son with Aarskog-Scott syndrome. (23443263)
2013
6
Aarskog-Scott syndrome. (23673187)
2013
7
Aarskog-scott syndrome: a review and case report. (25206170)
2012
8
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. (22211847)
2012
9
Mania with Aarskog-Scott syndrome. (22565081)
2012
10
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. (21911474)
2011
11
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). (21654724)
2011
12
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. (21739585)
2011
13
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. (20082460)
2010
14
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. (19110080)
2009
15
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. (17152066)
2007
16
Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)
2007
17
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
18
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)
2006
19
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)
2006
20
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
21
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
22
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (10930571)
2000
23
Sperm acrosome defects in a patient with Aarskog-Scott syndrome. (8985497)
1996
24
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (7810566)
1994
25
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (7954831)
1994
26
The Aarskog-Scott syndrome in four brothers. (1227529)
1975
27
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:

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:

6 (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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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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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
9.0CDC42, FGD1, FGD3
58.9FGD1, CDC42, MCF2
68.9MCF2, CDC42, FGD1
7
Show member pathways
8.5MCF2, CDC42, FGD1, FGD3
8
Show member pathways
8.5MCF2, CDC42, FGD1, FGD3
9
Show member pathways
8.5FGD3, FGD1, CDC42, MCF2
10
Show member pathways
8.5FGD3, FGD1, CDC42, MCF2

Compounds for genes affiliated with Aarskog-Scott Syndrome

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 28IUPHAR
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Compounds related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1Guanosine monophosphate249.4CDC42, MCF2
2Guanosine diphosphate249.3CDC42, MCF2
3guanosine 5-o-(3-thiotriphosphate)449.3CDC42, PLEK
4pip2449.3CDC42, PLEK
5guanosine44 24 1111.3CDC42, PLEK
6guanine44 24 1111.2CDC42, MCF2
7phosphatidylinositol-3,4,5-trisphosphate44 2410.2CDC42, PLEK
8phosphatidylserine44 28 1111.1PLEK, CDC42
9agar449.0MCF2, CDC42
10gdp448.8MCF2, PLEK, CDC42
11gtp44 289.8MCF2, PLEK, CDC42
12arginine448.7CDC42, PLEK, MCF2
13threonine448.7MCF2, PLEK, CDC42
14cysteine448.7CDC42, PLEK, MCF2
15lipid448.5CDC42, PLEK, MCF2
16Guanosine triphosphate248.2FGD3, FGD1, FGD5, CDC42, MCF2

GO Terms for genes affiliated with Aarskog-Scott Syndrome

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

Products for genes affiliated with Aarskog-Scott Syndrome

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Sources for Aarskog-Scott Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet