AAS
MCID: ARS001
MIFTS: 52

Aarskog-Scott Syndrome (AAS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Aarskog-Scott Syndrome

Aliases & Descriptions for Aarskog-Scott Syndrome:

Name: Aarskog-Scott Syndrome 54 12 24 25 56 66 13
Aarskog Syndrome 12 50 24 25 56 52 42 14 69
Faciogenital Dysplasia 12 50 24 25 56 66
Faciodigitogenital Syndrome 50 24 56 66
Aarskog Disease 50 29
Aas 25 66
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 66
Facio-Digito-Genital Dysplasia 25
Aarskog Scott Syndrome 50
Scott Aarskog Syndrome 50
Greig's Syndrome 12
Fgdy 50

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
aarskog-scott syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 305400
Disease Ontology 12 DOID:6683
ICD10 33 Q87.1
SNOMED-CT 64 14921002 205809002
Orphanet 56 ORPHA915
UMLS via Orphanet 70 C0175701
ICD10 via Orphanet 34 Q87.1
UMLS 69 C0175701

Summaries for Aarskog-Scott Syndrome

OMIM : 54 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 amyloidosis aa and helsmoortel-van der aa syndrome, and has symptoms including hypertelorism, short neck and pectus excavatum. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways/superpathways are Signaling by Rho GTPases and p75 NTR receptor-mediated signalling. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and endothelial.

Disease Ontology : 12 A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.

Genetics Home Reference : 25 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 : 50 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 : 66 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

Diseases related to Aarskog-Scott Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
id Related Disease Score Top Affiliating Genes
1 amyloidosis aa 12.2
2 helsmoortel-van der aa syndrome 12.1
3 faciodigitogenital syndrome, autosomal recessive 11.8
4 alopecia areata 11.7
5 adnp syndrome 11.4
6 aplastic anemia 11.1
7 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.0
8 renal nutcracker syndrome 11.0
9 superior mesenteric artery syndrome 10.9
10 7q11.23 duplication syndrome 10.9
11 sveinsson choreoretinal atrophy 10.9
12 scott syndrome 10.8
13 greig cephalopolysyndactyly syndrome 10.8
14 amyloidosis, hereditary, transthyretin-related 10.8
15 chromosome 7q11.23 duplication syndrome 10.8
16 adnp-related intellectual disability and autism spectrum disorder 10.7
17 amyloidosis 10.4
18 polymicrogyria 10.1
19 endotheliitis 10.1
20 attention deficit-hyperactivity disorder 10.1
21 cerebrovascular disease 10.1
22 unilateral focal polymicrogyria 10.1
23 arthropathy 10.1
24 myopathy 10.1
25 trichothiodystrophy 2, photosensitive 10.0 CDC42 MCF2
26 arthritis 9.9
27 al amyloidosis 9.8
28 rheumatoid arthritis 9.8
29 spastic paraplegia 26, autosomal recessive 9.8 CDC42 FGD4
30 leukemia 9.7
31 spastic hemiplegia 9.7
32 hemiplegia 9.7
33 spasticity 9.7
34 isolated growth hormone deficiency 9.7
35 growth hormone deficiency 9.7
36 metatarsus adductus 9.7
37 prostatitis 9.7
38 dermatitis 9.6
39 sarcoma 9.6
40 nephrotic syndrome 9.6
41 cerebritis 9.6
42 lymphoma 9.6
43 prostate cancer 9.6
44 pulmonary hypertension 9.6
45 obesity 9.6
46 myositis 9.6
47 atopic dermatitis 9.6
48 arteriovenous malformation 9.6
49 thyroiditis 9.6
50 neuropathy 9.6

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



Diseases related to Aarskog-Scott Syndrome

Symptoms & Phenotypes for Aarskog-Scott Syndrome

Symptoms by clinical synopsis from OMIM:

305400

Clinical features from OMIM:

305400

Human phenotypes related to Aarskog-Scott Syndrome:

56 32 (show top 50) (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 short neck 56 32 Occasional (29-5%) HP:0000470
3 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
4 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
5 ptosis 56 32 Frequent (79-30%) HP:0000508
6 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
7 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
8 umbilical hernia 56 32 Very frequent (99-80%) HP:0001537
9 pes planus 56 32 Occasional (29-5%) HP:0001763
10 anteverted nares 56 32 Frequent (79-30%) HP:0000463
11 short stature 56 32 Very frequent (99-80%) HP:0004322
12 cognitive impairment 56 32 Frequent (79-30%) HP:0100543
13 cleft palate 56 32 Occasional (29-5%) HP:0000175
14 long philtrum 56 32 Frequent (79-30%) HP:0000343
15 strabismus 56 32 Occasional (29-5%) HP:0000486
16 delayed eruption of teeth 56 32 Occasional (29-5%) HP:0000684
17 short palm 56 32 Very frequent (99-80%) HP:0004279
18 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
19 epicanthus 56 32 Occasional (29-5%) HP:0000286
20 megalocornea 56 32 Occasional (29-5%) HP:0000485
21 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
22 short foot 56 32 Very frequent (99-80%) HP:0001773
23 everted lower lip vermilion 56 32 Very frequent (99-80%) HP:0000232
24 genu recurvatum 56 32 Occasional (29-5%) HP:0002816
25 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
26 attention deficit hyperactivity disorder 56 32 Occasional (29-5%) HP:0007018
27 broad forehead 56 32 Frequent (79-30%) HP:0000337
28 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
29 small hand 56 32 Very frequent (99-80%) HP:0200055
30 hypoplasia of the maxilla 56 32 Occasional (29-5%) HP:0000327
31 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
32 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
33 round face 56 32 Occasional (29-5%) HP:0000311
34 camptodactyly of finger 56 32 Very frequent (99-80%) HP:0100490
35 external ear malformation 56 32 Frequent (79-30%) HP:0008572
36 cleft upper lip 56 32 Occasional (29-5%) HP:0000204
37 hyperextensible skin 56 32 Frequent (79-30%) HP:0000974
38 talipes 56 32 Occasional (29-5%) HP:0001883
39 broad foot 56 32 Very frequent (99-80%) HP:0001769
40 shawl scrotum 56 32 Very frequent (99-80%) HP:0000049
41 single transverse palmar crease 56 32 Occasional (29-5%) HP:0000954
42 broad palm 56 32 Very frequent (99-80%) HP:0001169
43 abnormal vertebral segmentation and fusion 56 32 Occasional (29-5%) HP:0005640
44 high anterior hairline 56 32 Frequent (79-30%) HP:0009890
45 clinodactyly 32 HP:0030084
46 intellectual disability 32 HP:0001249
47 failure to thrive 32 HP:0001508
48 scoliosis 32 HP:0002650
49 behavioral abnormality 56 Occasional (29-5%)
50 abnormality of the teeth 56 Occasional (29-5%)

Drugs & Therapeutics for Aarskog-Scott Syndrome

Drugs for Aarskog-Scott Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Aarskog-Scott Syndrome

Cochrane evidence based reviews: aarskog syndrome

Genetic Tests for Aarskog-Scott Syndrome

Genetic tests related to Aarskog-Scott Syndrome:

id Genetic test Affiliating Genes
1 Aarskog Syndrome 29 24 FGD1

Anatomical Context for Aarskog-Scott Syndrome

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

39
Heart, Skin, Endothelial

Publications for Aarskog-Scott Syndrome

Articles related to Aarskog-Scott Syndrome:

(show all 32)
id Title Authors Year
1
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )
2017
2
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )
2016
3
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )
2016
4
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )
2015
5
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )
2015
6
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )
2014
7
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149 )
2014
8
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )
2013
9
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )
2013
10
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )
2013
11
Aarskog-Scott syndrome. ( 23673187 )
2013
12
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )
2012
13
Mania with Aarskog-Scott syndrome. ( 22565081 )
2012
14
Aarskog-scott syndrome: a review and case report. ( 25206170 )
2012
15
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )
2011
16
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474 )
2011
17
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )
2011
18
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )
2010
19
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )
2009
20
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )
2007
21
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
22
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )
2007
23
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )
2006
24
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )
2006
25
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997 )
2005
26
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
27
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). ( 10930571 )
2000
28
Sperm acrosome defects in a patient with Aarskog-Scott syndrome. ( 8985497 )
1996
29
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. ( 7810566 )
1994
30
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. ( 7954831 )
1994
31
The Aarskog-Scott syndrome in four brothers. ( 1227529 )
1975
32
Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. ( 1227568 )
1975

Variations for Aarskog-Scott Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 FGD1 p.Arg522His VAR_015236 rs137853264
2 FGD1 p.Arg610Gln VAR_015237 rs28935497
3 FGD1 p.Ser205Ile VAR_019268
4 FGD1 p.Glu380Ala VAR_019270
5 FGD1 p.Arg443His VAR_019271

ClinVar genetic disease variations for Aarskog-Scott Syndrome:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 FGD1 FGD1, 1-BP INS, 2122G insertion Pathogenic
2 FGD1 NM_004463.2(FGD1): c.1829G> A (p.Arg610Gln) single nucleotide variant Pathogenic rs28935497 GRCh37 Chromosome X, 54482666: 54482666
3 FGD1 NM_004463.2(FGD1): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs137853264 GRCh37 Chromosome X, 54491955: 54491955
4 FGD1 FGD1, EX9-12DEL deletion Pathogenic
5 FGD1 FGD1, 1-BP INS, 528C insertion Pathogenic
6 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh37 Chromosome X, 54494334: 54494334
7 FGD1 FGD1, 1-BP DEL, 2189A deletion Pathogenic
8 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh37 Chromosome X, 54494229: 54494229
9 FGD1 FGD1, 1-BP INS, 945C insertion Pathogenic
10 FGD1 NM_004463.2(FGD1): c.1396A> G (p.Met466Val) single nucleotide variant Pathogenic rs137853267 GRCh37 Chromosome X, 54492230: 54492230
11 FGD1 NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs387906718 GRCh37 Chromosome X, 54481930: 54481930
12 FGD1 NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter) single nucleotide variant Pathogenic rs398124155 GRCh37 Chromosome X, 54494270: 54494270
13 FGD1 NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs398124156 GRCh37 Chromosome X, 54492158: 54492158
14 FGD1 NM_004463.2(FGD1): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs398124160 GRCh37 Chromosome X, 54521691: 54521691
15 FGD1 NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs) insertion Pathogenic rs398124161 GRCh37 Chromosome X, 54476127: 54476128
16 FGD1 NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs) duplication Pathogenic rs398124162 GRCh37 Chromosome X, 54476105: 54476105
17 FGD1 NM_004463.2(FGD1): c.2016-2A> G single nucleotide variant Pathogenic rs794727099 GRCh37 Chromosome X, 54476736: 54476736
18 FGD1 NM_004463.2(FGD1): c.527dupC (p.Leu177Thrfs) duplication Pathogenic rs756586058 GRCh37 Chromosome X, 54497148: 54497148
19 FGD1 NM_004463.2(FGD1): c.527delC (p.Pro176Hisfs) deletion Pathogenic rs780428919 GRCh38 Chromosome X, 54470715: 54470715

Expression for Aarskog-Scott Syndrome

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

Pathways for Aarskog-Scott Syndrome

GO Terms for Aarskog-Scott Syndrome

Cellular components related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.8 CDC42 FARP2 FGD1 FGD3 FGD4 MCF2
2 lamellipodium GO:0030027 9.33 FGD1 FGD3 FGD4
3 filopodium GO:0030175 9.26 CDC42 FGD4
4 ruffle GO:0001726 9.13 FGD1 FGD3 FGD4
5 cytoskeleton GO:0005856 9.1 CDC42 FARP2 FGD1 FGD3 FGD4 MCF2

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.72 FARP2 FGD1 FGD3 FGD4 MCF2
2 positive regulation of apoptotic process GO:0043065 9.67 FGD1 FGD3 FGD4 MCF2
3 cytoskeleton organization GO:0007010 9.63 FGD1 FGD3 FGD4
4 regulation of cell shape GO:0008360 9.61 FGD1 FGD3 FGD4
5 regulation of GTPase activity GO:0043087 9.58 FGD1 FGD3 FGD4
6 actin cytoskeleton organization GO:0030036 9.56 CDC42 FGD1 FGD3 FGD4
7 regulation of small GTPase mediated signal transduction GO:0051056 9.55 CDC42 FGD1 FGD3 FGD4 MCF2
8 regulation of Rho protein signal transduction GO:0035023 9.35 FARP2 FGD1 FGD3 FGD4 MCF2
9 filopodium assembly GO:0046847 8.92 CDC42 FGD1 FGD3 FGD4

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

id Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.46 FGD1 FGD3 FGD4 MCF2
2 small GTPase binding GO:0031267 9.13 FGD1 FGD3 FGD4
3 Rho guanyl-nucleotide exchange factor activity GO:0005089 9.02 FARP2 FGD1 FGD3 FGD4 MCF2

Sources for Aarskog-Scott Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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