MCID: ARS001
MIFTS: 51

Aarskog-Scott Syndrome malady

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

Aliases & Classifications for Aarskog-Scott Syndrome

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Aliases & Descriptions for Aarskog-Scott Syndrome:

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

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

HPO:

61
aarskog-scott syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 305400
Disease Ontology10 DOID:6683
ICD1027 Q87.1
SNOMED-CT59 14921002, 205809002
Orphanet51 915
ICD10 via Orphanet28 Q87.1
UMLS via Orphanet66 C0175701
UMLS65 C0175701

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

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
1AstragalusNutraceutical48

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 FGD1

Anatomical Context for Aarskog-Scott Syndrome

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MalaCards organs/tissues related to Aarskog-Scott Syndrome:

33
Skin, Heart, Bone, Testes, Kidney, Pituitary, Neutrophil

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
Facial solar porokeratosis. (26858047)
2016
2
Identification and functional analysis of phosphorylation in Newcastle disease virus phosphoprotein. (27160999)
2016
3
Interleukin-17A and interleukin-17F gene polymorphisms and hepatitis B virus-related hepatocellular carcinoma risk in a Chinese population. (25429834)
2015
4
Differential white cell count and incident type 2 diabetes: the Insulin Resistance Atherosclerosis Study. (24141640)
2014
5
Screening of novel malaria DNA vaccine candidates using full-length cDNA library. (24055215)
2013
6
Inspection of lymph nodes for caseous lymphadenitis and its effect on the density of microbes on sheep carcasses. (22863079)
2012
7
A unilateral negative feedback loop between miR-200 microRNAs and Sox2/E2F3 controls neural progenitor cell-cycle exit and differentiation. (22993445)
2012
8
The impact of the vitamins A, C and E in the prevention of gastroesophageal reflux disease, Barrett's oesophagus and oesophageal adenocarcinoma. (23213946)
2012
9
Severe combined immunodeficiency in a Caspian filly. (21736619)
2011
10
Molecular analysis of a patient with type I Glanzmann thrombasthenia and clinical impact of the presence of anti-I+IIbI^3 alloantibodies. (21136216)
2011
11
Association of APOE polymorphisms and insulin resistance with TCM syndromes in type 2 diabetes patients with macroangiopathy. (21822540)
2011
12
Rasburicase improves hyperuricemia in infants with acute kidney injury. (19936796)
2010
13
The natural progression of Gambiense sleeping sickness: what is the evidence? (19104656)
2008
14
Physical activity and insulin sensitivity: the RISC study. (18591396)
2008
15
A new HLA-B*40 allele, HLA-B*4085, identified by sequence-based typing in the Korean population. (18721280)
2008
16
Pleomorphic adenoma in the infra-temporal space: the first case report. (20614271)
2007
17
Development of nasal skin necrosis associated with rituximab treatment for WaldenstrAPm's macroglobulinemia and subsequent spontaneous resolution. (16909812)
2006
18
Further evidence for insufficient hypothalamic-pituitary-glandular axes in polymyalgia rheumatica. (16821261)
2006
19
A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer. (15942101)
2005
20
Biotin availability regulates expression of the sodium-dependent multivitamin transporter and the rate of biotin uptake in HepG2 cells. (15905112)
2005
21
Genetic polymorphisms of nucleotide repair gene hMTH1 in southern Chinese Han population]. (15730954)
2005
22
Human paraoxonase-1 gene expression by HepG2 cells is downregulated by interleukin-1beta and tumor necrosis factor-alpha, but is upregulated by interleukin-6. (14511766)
2003
23
Role of Ca2+-activated K+ channels in human erythrocyte apoptosis. (14600080)
2003
24
Ultrastructural localization of cell junctional components (desmoglein, plakoglobin, E-cadherin, and beta-catenin) in Hailey-Hailey disease, Darier's disease, and pemphigus vulgaris. (9521500)
1998
25
Xanthogranulomatous cholecystitis. Fine needle aspiration cytology in 17 cases. (9100775)
1997
26
Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis. (8257993)
1993
27
Gonorrhea, genital chlamydial infection, and nonspecific urethritis in male partners of women hospitalized and treated for acute pelvic inflammatory disease. (8511708)
1993
28
Tumor necrosis factor alpha priming of phospholipase D in human neutrophils. Correlation between phosphatidic acid production and superoxide generation. (1847915)
1991
29
Regulation of indoleamine 2,3-dioxygenase gene expression in human fibroblasts by interferon-gamma. Upstream control region discriminates between interferon-gamma and interferon-alpha. (2174056)
1990

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

idNameGO IDScoreTop Affiliating Genes
1regulation of cell shapeGO:00083609.4FGD1, FGD3
2cytoskeleton organizationGO:00070109.4FGD1, FGD3, FGD4
3regulation of Rho protein signal transductionGO:00350239.3FGD1, FGD3, FGD4
4regulation of small GTPase mediated signal transductionGO:00510568.1CDC42, FGD1, FGD3, FGD4, MCF2
5small GTPase mediated signal transductionGO:00072648.0CDC42, FGD1, FGD3, FGD4, MCF2

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

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:00312679.7FGD1, FGD3

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