Aarskog-Scott Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Aarskog-Scott Syndrome

Sources:
⁸Disease Ontology, ²¹Genetics Home Reference, ⁴²NIH Rare Diseases, ⁴⁶OMIM, ³²MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard

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: Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to amyloidosis and arthritis, and has symptoms including simian crease/transverse/unique palmar crease, cleft lip and palate and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. 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 testes, skin and bone.

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:⁴⁶ 305400,100050

Aliases & Classifications for Aarskog-Scott Syndrome

Sources:
⁸Disease Ontology, ⁹diseasecard, ²¹Genetics Home Reference, ⁴⁶OMIM, ¹⁰DISEASES, ⁴⁸Orphanet, ⁴²NIH Rare Diseases, ⁴⁴Novoseek, ⁶⁰UMLS, ²⁰GeneTests, ²²GTR, ³⁴MeSH, ⁵⁶SNOMED-CT, ⁵⁷SNOMED-CT via Orphanet, ²⁶ICD10 via Orphanet
See all sources

Classifications:

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

ICD10: ²⁶

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

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

Aliases & Descriptions:

aarskog-scott syndrome ⁸ ⁹ ²¹ ⁴⁶ ¹⁰ ⁴⁸

aarskog syndrome ⁸ ⁴² ²¹ ⁴⁴ ⁴⁸ ⁶⁰

faciogenital dysplasia ⁸ ⁴² ²¹ ⁴⁸

aarskog disease ⁴² ²⁰ ²²

faciodigitogenital syndrome ⁴² ⁴⁸

facio-digito-genital dysplasia ²¹

aarskog scott syndrome ⁴²

greig's syndrome ⁸

fgdy ⁴²

aas ²¹

External Ids:

Disease Ontology⁸ DOID:6683

OMIM⁴⁶ 305400, 100050

MeSH³⁴ C535331

SNOMED-CT⁵⁶ 205809002, 14921002

SNOMED-CT via Orphanet⁵⁷ 14921002

ICD10 via Orphanet²⁶ Q87.1

UMLS⁶⁰ C0175701

Related Diseases for Aarskog-Scott Syndrome

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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

(show top 50) (show all 178)

id	Related Disease	Score	Top Affiliating Genes
1	amyloidosis	10.9
2	arthritis	10.4
3	rheumatoid arthritis	10.3
4	attention deficit hyperactivity disorder	10.3
5	hypermobility syndrome	10.3
6	arthropathy	10.3
7	cerebrovascular disease	10.3
8	myopathy	10.3
9	polymicrogyria	10.3
10	hydrocephalus, costovertebral dysplasia, and sprengel anomaly	10.3
11	amyloidosis aa	10.2
12	familial mediterranean fever	10.1
13	nephrotic syndrome	10.1
14	proteinuria	10.1
15	breast cancer	10.1
16	prostate cancer	10.1
17	prostatitis	10.1
18	alopecia areata	10.1
19	aplastic anemia	10.1
20	dermatitis	10.1
21	spastic hemiplegia	10.0
22	greig cephalopolysyndactyly syndrome	10.0
23	hemiplegia	10.0
24	parkinson's disease	10.0
25	crohn's disease	10.0
26	lattice corneal dystrophy	10.0
27	atopic dermatitis	10.0
28	protein-losing enteropathy	10.0
29	corneal dystrophy	10.0
30	myositis	10.0
31	obesity	10.0
32	renal nutcracker syndrome	10.0
33	wiskott-aldrich syndrome	10.0	CTTN, CDC42, PLEK
34	age related macular degeneration	9.9
35	egg allergy	9.9
36	cerebritis	9.9
37	superior mesenteric artery syndrome	9.9
38	hemoglobinuria	9.9
39	amyloid tumor	9.9
40	alzheimer's disease	9.9
41	polycystic kidney disease	9.9
42	asthma	9.9
43	inflammatory bowel disease	9.9
44	influenza	9.9
45	kidney disease	9.9
46	mouth disease	9.9
47	osteosarcoma	9.9
48	ovarian cancer	9.9
49	pneumonia	9.9
50	sarcoma	9.9

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

Clinical Features for Aarskog-Scott Syndrome

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

simian crease/transverse/unique palmar crease
cleft lip and palate
cleft palate without cleft lip/submucosal cleft palate/bifid uvula
anomalies of teeth and dentition
cleft lip
epicanthic folds
strabismus/squint
megalocornea
hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
round face
delayed dentition/eruption of teeth/lack of eruption of teeth
short neck
psychic/behavioural troubles
hyperactivity/attention deficit
heart/cardiac failure
congenital cardiac anomaly/malformation/cardiopathy
flat foot
talipes-varus/metatarsal varus
genu recurvatum
anomalies of spine, vertebrae and pelvis
pectus excavatum
hyperextensible joints/articular hyperlaxity
intellectual deficit/mental/psychomotor retardation/learning disability
short stature/dwarfism/nanism
x-linked recessive inheritance

shawl scrotum
broad foot
short foot/brachydactyly of toes
camptodactyly of some fingers
small hand/acromicria
short hand/brachydactyly
anomalies of hands
umbilical hernia
everted lower lip
broad forehead
downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
ptosis
undescended/ectopic testes/cryptorchidia/unfixed testes
high hair line (front)/widow peak
hyperelastic skin/cutaneous hyperlaxity
clinodactyly of fifth finger
syndactyly of fingers/interdigital palm
inguinal/inguinoscrotal/crural hernia
low set ears/posteriorly rotated ears
external ear anomalies
long philtrum
anteverted nares/nostrils
broad nasal root
hypertelorism

Drugs & Therapeutics for Aarskog-Scott Syndrome

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

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
See all sources

Genetic tests related to Aarskog-Scott Syndrome:

id	Genetic test	Affiliating Genes
1	Aarskog Syndrome²⁰ ²²	FGD1

Anatomical Context for Aarskog-Scott Syndrome

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Aarskog-Scott Syndrome:

³²

Testes, Skin, Bone, Heart, Endothelial

Animal Models for Aarskog-Scott Syndrome or affiliated genes

Publications for Aarskog-Scott Syndrome

Sources:
⁵⁰PubMed
See all sources

Articles related to Aarskog-Scott Syndrome:

(show all 25)

id	Title	Authors	Year
1	Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. (23169394)	Aten E.... den Dunnen J.T.	2013
2	Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. (23211637)	Al-Semari A.... Meyer B.F.	2013
3	A novel mutation in a mother and a son with Aarskog-Scott syndrome. (23443263)	AltA+ncA+k A.... BAPber E.	2013
4	Aarskog-Scott syndrome. (23673187)	Shanavas M.... Sharif A.	2013
5	Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. (22211847)	Ronce N.... Raynaud M.	2012
6	Mania with Aarskog-Scott syndrome. (22565081)	Nayak R.B.... Pandurangi A.	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)	Daubon T.... GAcnot E.	2011
8	Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). (21654724)	Orrico A.... Fryns J.P.	2011
9	Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. (21739585)	Pilozzi-Edmonds L.... Alfares A.	2011
10	Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. (20082460)	Orrico A.... Sorrentino V.	2010
11	First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. (19110080)	Bedoyan J.K.... Ahmad A.	2009
12	Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. (17152066)	Orrico A.... Sorrentino V.	2007
13	A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. (17506099)	Hoffman J.D.... Zackai E.H.	2007
14	Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)	DiLuna M.L.... Gunel M.	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)	Bottani A.... Conrad B.	2007
16	Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)	Kaname T.... Naritomi K.	2006
17	Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)	Moraes S.G.... Maciel-Guerra A.T.	2006
18	Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)	Orrico A.... Sorrentino V.	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)	Orrico A.... Sorrentino V.	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)	Orrico A.... Sorrentino V.	2000
21	Sperm acrosome defects in a patient with Aarskog-Scott syndrome. (8985497)	Meschede D.... Nieschlag E.	1996
22	Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (7810566)	Stevenson R.E.... Schwartz C.E.	1994
23	Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (7954831)	Pasteris N.G.... Gorski J.L.	1994
24	The Aarskog-Scott syndrome in four brothers. (1227529)	Archibald R.M.... German J.	1975
25	Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. (1227568)	Bartsocas C.S.... Dimitriou J.K.	1975

Genes related to Aarskog-Scott Syndrome

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot, ²⁰GeneTests
See all sources

Genes related to Aarskog-Scott Syndrome:

(show all 12)

id	Symbol	Description	Score	Implication
1	FGD1	FYVE, RhoGEF and PH domain containing 1	21.08	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶² Genetic Tests ²⁰ GeneCards inferred : Publications, Disorders, Gene name (show sections)
2	NEXN	nexilin (F actin binding protein)	19.24	GeneCards inferred : Disorders (show sections)
3	MCF2	MCF.2 cell line derived transforming sequence	17.58	GeneCards inferred : Disorders (show sections)
4	FGD3	FYVE, RhoGEF and PH domain containing 3	15.91	GeneCards inferred : Disorders (show sections)
5	FARP2	FERM, RhoGEF and pleckstrin domain protein 2	14.24	GeneCards inferred : Disorders (show sections)
6	FGD4	FYVE, RhoGEF and PH domain containing 4	12.58	GeneCards inferred : Disorders (show sections)
7	SLC2A4RG	SLC2A4 regulator	10.91	GeneCards inferred : Disorders (show sections)
8	PLEK	pleckstrin	9.24	GeneCards inferred : Publications, Disorders (show sections)
9	FGD2	FYVE, RhoGEF and PH domain containing 2	7.58	GeneCards inferred : Disorders (show sections)
10	CTTN	cortactin	5.91	GeneCards inferred : Disorders (show sections)
11	FGD5	FYVE, RhoGEF and PH domain containing 5	4.24	GeneCards inferred : Disorders (show sections)
12	CDC42	cell division cycle 42	2.58	GeneCards inferred : Disorders (show sections)

Products for genes related to Aarskog-Scott Syndrome disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	11	11	12
2	LSBio	-	-	12

Genetic Variations for Aarskog-Scott Syndrome

Sources:
⁶²UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Aarskog-Scott Syndrome:

⁶²

id	Symbol	AA change	Variation ID	SNP ID
1	FGD1	p.Arg522His	VAR_015236
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

Expression for genes affiliated with Aarskog-Scott Syndrome

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

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:
⁵³Reactome, ³⁷NCBI BioSystems Database, ⁵¹QIAGEN, ²⁹KEGG, ¹²EMD Millipore, ⁴Cell Signaling Technology
See all sources

Pathways related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

(show all 14)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Sema4D in semaphorin signaling⁵³ Hide members Semaphorin interactions⁵³ Sema4D induced cell migration and growth-cone collapse⁵³	9.6	CDC42, FARP2
2	Nectin adhesion pathway³⁷	9.6	CDC42, FARP2
3	Actin Nucleation by ARP-WASP Complex⁵¹ Hide members CDC42 Pathway⁵¹ Actin Nucleation and Branching⁵¹	9.4	CDC42, FGD3, FGD1
4	Regulation of Actin Cytoskeleton³⁷ Hide members Regulation of actin cytoskeleton²⁹	9.4	CDC42, FGD3, FGD1
5	Cell adhesion Cadherin-mediated cell adhesion¹²	9.3	CDC42, CTTN
6	Shigellosis²⁹	9.3	CDC42, CTTN
7	E-cadherin signaling in the nascent adherens junction³⁷	9.3	CDC42, CTTN
8	Regulation of CDC42 activity³⁷	9.0	FGD1, MCF2, CDC42, FARP2
9	Cytoskeletal Signaling⁴	9.0	MCF2, CDC42, CTTN
10	G-protein signaling Regulation of CDC42 activity¹²	9.0	CDC42, MCF2, FGD1, FGD4
11	Rho GTPase cycle⁵³ Hide members Signaling by Rho GTPases⁵³	8.2	CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
12	Signaling by GPCR⁵³ Hide members GPCR downstream signaling⁵³ Signal Transduction⁵³	8.2	CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
13	Signaling by FGFR⁵³ Hide members Signalling by NGF⁵³ Signaling by EGFR⁵³ Signaling by EGFR in Cancer⁵³	8.2	CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
14	Cell death signalling via NRAGE, NRIF and NADE⁵³ Hide members NRAGE signals death through JNK⁵³ G alpha (12/13) signalling events⁵³ p75 NTR receptor-mediated signalling⁵³	8.2	FGD4, FGD1, FGD3, FGD2, MCF2, CDC42

Compounds for genes affiliated with Aarskog-Scott Syndrome

Sources:
⁴⁴Novoseek, ⁵⁹Tocris Bioscience, ²⁸IUPHAR
See all sources

Compounds related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	jasplakinolide⁴⁴ ⁵⁹	10.2	CDC42, CTTN
2	guanosine 5-o-(3-thiotriphosphate)⁴⁴	9.2	PLEK, CDC42
3	gdp⁴⁴	8.9	CDC42, MCF2, PLEK, FGD4
4	pip2⁴⁴	8.9	CTTN, PLEK, CDC42
5	threonine⁴⁴	8.6	CTTN, CDC42, MCF2, PLEK
6	gtp⁴⁴ ²⁸	9.3	CDC42, PLEK, FGD4, MCF2, CTTN

GO Terms for genes affiliated with Aarskog-Scott Syndrome

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	filopodium	GO:030175	9.6	FGD4, CDC42
2	ruffle membrane	GO:032587	8.6	FGD2, FGD5, PLEK
3	Golgi apparatus	GO:005794	7.9	FGD2, FGD3, FGD1, FGD4, FGD5
4	ruffle	GO:001726	7.7	CTTN, FGD2, FGD3, FGD1, FGD4, FGD5
5	lamellipodium	GO:030027	7.7	FGD5, FGD4, FGD1, FGD3, CTTN, FGD2
6	cytosol	GO:005829	7.4	FGD3, PLEK, FGD4, FARP2, CDC42, MCF2
7	cytoskeleton	GO:005856	7.2	CTTN, FARP2, NEXN, MCF2, FGD2, FGD3
8	cytoplasm	GO:005737	5.9	SLC2A4RG, CTTN, CDC42, FGD2, FGD3, FGD1

Biological processes related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of Rho protein signal transduction	GO:035023	9.8	MCF2, FARP2
2	actin cytoskeleton reorganization	GO:031532	9.4	PLEK, FARP2
3	apoptotic signaling pathway	GO:097190	8.8	MCF2, FGD2, FGD3, FGD1, FGD4
4	positive regulation of apoptotic process	GO:043065	8.7	MCF2, FGD2, FGD3, FGD1, FGD4
5	neurotrophin TRK receptor signaling pathway	GO:048011	8.6	MCF2, FGD2, FGD3, FGD1, FGD4
6	regulation of Cdc42 GTPase activity	GO:043088	8.4	FGD2, FGD3, FGD1, FGD4, FGD5
7	regulation of small GTPase mediated signal transduction	GO:051056	8.4	CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
8	cytoskeleton organization	GO:007010	8.3	FGD2, FGD3, FGD1, FGD4, FGD5
9	regulation of cell shape	GO:008360	8.3	FGD2, FGD3, FGD1, FGD4, FGD5
10	small GTPase mediated signal transduction	GO:007264	8.2	CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
11	filopodium assembly	GO:046847	7.9	FGD5, FGD4, FGD1, FGD3, FGD2, CDC42
12	actin cytoskeleton organization	GO:030036	7.9	CDC42, FGD2, FGD3, FGD1, FGD4, FGD5

Molecular functions related to Aarskog-Scott Syndrome according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	small GTPase binding	GO:031267	8.2	FGD2, FGD3, FGD1, FGD4, FGD5
2	guanyl-nucleotide exchange factor activity	GO:005085	7.9	FGD2, FGD3, FGD1, FGD4, FGD5
3	metal ion binding	GO:046872	7.8	SLC2A4RG, FGD5, FGD4, FGD1, FGD3, FGD2
4	Rho guanyl-nucleotide exchange factor activity	GO:005089	7.6	FGD5, FGD4, FGD1, FGD3, FGD2, MCF2
5	phospholipid binding	GO:005543	7.4	FARP2, MCF2, FGD2, FGD3, FGD1, FGD4