Details of Disease

General Information of Disease (ID: DISNHV62)

Disease Name Aarskog-Scott syndrome, X-linked
Synonyms
Aarskog Scott syndrome; faciogenital dysplasia with attention Deficit-hyperactivity disorder; MRXS16, included; mental retardation, X-linked, syndromic 16; mental retardation, X-linked, syndromic 16, included; facio-digito-genital dysplasia; FGD; faciogenital dysplasia; faciodigitogenital syndrome; FGDY; Aarskog syndrome; faciodigitogenital syndrome, recessive; AAS; Aarskog-Scott syndrome; Aarskog-like syndrome; Scott Aarskog syndrome; Aarskog disease; Aarskog-Scott syndrome, X-linked; Aarskog-Scott syndrome, X-linked recessive; mental retardation, X-linked syndromic 16, X-linked recessive; Aarskog syndrome, X-linked
Definition Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
Disease Hierarchy
DIS3PN9X: X-linked disease
DISWMY4U: Faciodigitogenital syndrome
DIS2MEFU: FG syndrome
DISNHV62: Aarskog-Scott syndrome, X-linked
Disease Identifiers
MONDO ID
MONDO_0010589
MESH ID
C535331
UMLS CUI
C0175701
OMIM ID
305400
MedGen ID
61234
SNOMED CT ID
14921002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NNT TTKIH76 moderate Genetic Variation [1]
PTPN11 TT7WUAV Strong Biomarker [2]
RAF1 TTAN5W2 Strong Biomarker [3]
TXNRD3 TTDYFVB Definitive Genetic Variation [4]
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This Disease Is Related to 15 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARHGEF2 OTBQTFRT moderate Genetic Variation [5]
RASGRF1 OTNWJ7EN moderate Altered Expression [6]
SLC2A4RG OTW3LX8D moderate Genetic Variation [5]
AAAS OTJT9T23 Strong Genetic Variation [7]
FGD5 OT5VIRP2 Strong Genetic Variation [8]
LZTR1 OTIDM6XO Strong Biomarker [9]
MCM4 OT19PNNG Strong Biomarker [10]
MRAP OTLBWM7X Strong Biomarker [11]
PGAM2 OT9BE03I Strong Biomarker [12]
PLEK OTB73XXA Strong Genetic Variation [13]
RIT1 OTVNOGOH Strong Biomarker [14]
SOS1 OTTCWXC3 Strong Altered Expression [6]
FGD1 OTV3T64P Definitive X-linked [15]
FGD3 OTIH6283 Definitive Genetic Variation [16]
SMOC1 OTJG2JQY Definitive Biomarker [17]
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⏷ Show the Full List of 15 DOT(s)

References

1 Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.Hum Mutat. 2016 Oct;37(10):1074-84. doi: 10.1002/humu.23046. Epub 2016 Aug 8.
2 Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.Nat Med. 2004 Aug;10(8):849-57. doi: 10.1038/nm1084. Epub 2004 Jul 25.
3 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.Mol Cell Biol. 2012 Oct;32(19):3872-90. doi: 10.1128/MCB.00751-12. Epub 2012 Jul 23.
4 MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.Eur J Endocrinol. 2017 Sep;177(3):R99-R111. doi: 10.1530/EJE-17-0128. Epub 2017 Apr 27.
5 Proline-rich domain plays a crucial role in extracellular stimuli-responsive translocation of a Cdc42 guanine nucleotide exchange factor, FGD1.Biol Pharm Bull. 2010;33(1):35-9. doi: 10.1248/bpb.33.35.
6 FGD5 Regulates VEGF Receptor-2 Coupling to PI3 Kinase and Receptor Recycling.Arterioscler Thromb Vasc Biol. 2017 Dec;37(12):2301-2310. doi: 10.1161/ATVBAHA.117.309978. Epub 2017 Oct 19.
7 Heterogeneity in the molecular basis of ACTH resistance syndrome.Eur J Endocrinol. 2008 Jul;159(1):61-8. doi: 10.1530/EJE-08-0079. Epub 2008 Apr 21.
8 Characterization of FGD5 Expression in Primary Breast Cancers and Lymph Node Metastases.J Histochem Cytochem. 2018 Nov;66(11):787-799. doi: 10.1369/0022155418792032. Epub 2018 Jul 27.
9 Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.Science. 2018 Dec 7;362(6419):1177-1182. doi: 10.1126/science.aap7607. Epub 2018 Nov 15.
10 ACTH resistance: genes and mechanisms.Endocr Dev. 2013;24:57-66. doi: 10.1159/000342504. Epub 2013 Feb 1.
11 ACTH signalling and adrenal development: lessons from mouse models.Endocr Connect. 2019 Jul;8(7):R122-R130. doi: 10.1530/EC-19-0190.
12 Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes.Genomics. 1990 Nov;8(3):487-91. doi: 10.1016/0888-7543(90)90035-s.
13 Novel variant in the FGD1 gene causing Aarskog-Scott syndrome.Exp Ther Med. 2017 Jun;13(6):2623-2628. doi: 10.3892/etm.2017.4301. Epub 2017 Apr 5.
14 New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to -adrenergic stimulation-induced cardiac fibrosis.EBioMedicine. 2019 Apr;42:43-53. doi: 10.1016/j.ebiom.2019.03.014. Epub 2019 Mar 18.
15 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
16 Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue.Gene. 2000 Jan 25;242(1-2):237-47. doi: 10.1016/s0378-1119(99)00518-1.
17 Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.Am J Med Genet. 1994 Sep 1;52(3):339-45. doi: 10.1002/ajmg.1320520317.