And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation

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Networked: 20 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Megalencephaly
2.	Arachnodactyly
3.	Oligohydramnios
4.	Silver-Russell Syndrome
5.	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)

Experts

1.	Achermann, John C: 3 articles (01/2020 - 05/2012)
2.	Binder, Gerhard: 2 articles (10/2020 - 11/2014)
3.	Eggermann, Thomas: 2 articles (10/2020 - 11/2014)
4.	Buonocore, Federica: 2 articles (01/2020 - 01/2019)
5.	Arboleda, Valerie A: 2 articles (01/2015 - 05/2012)
6.	Vilain, Eric: 2 articles (01/2015 - 05/2012)
7.	Bergadá, Ignacio: 2 articles (11/2014 - 05/2012)
8.	Maher, Eamonn R: 2 articles (11/2014 - 01/2012)
9.	Berland, Siren: 1 article (01/2022)
10.	Haukanes, Bjørn Ivar: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation:

1.	GlucocorticoidsIBA 01/01/2021 - "Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). " 05/01/2014 - "Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3. Sequence analysis of CDKN1C, pyrosequencing-based methylation analysis of KvDMR1 and high-density oligonucleotide array comparative genome hybridization analysis for chromosome 11p15.5 were performed, showing an identical de novo and maternally inherited CDKN1C gain-of-function mutation (p.Asp274Asn) in cases 1 and 2, respectively, and no demonstrable abnormality in case 3. The results of cases 1 and 2 with CDKN1C mutation would argue the following: [1] relative macrocephaly is consistent with maternal expression of CDKN1C in most tissues and biparental expression of CDKN1C in the foetal brain; [2] FGD-like phenotype can result from CDKN1C mutation; and [3] genital abnormalities may primarily be ascribed to placental dysfunction. "
2.	OligonucleotidesIBA 05/01/2014 - "Clinical studies revealed not only IMAGe syndrome-compatible phenotypes in cases 1-3, but also hitherto undescribed findings including relative macrocephaly and apparently normal pituitary-gonadal endocrine function in cases 1-3, familial glucocorticoid deficiency (FGD)-like adrenal phenotype and the history of oligohydramnios in case 2, and arachnodactyly in case 3. Sequence analysis of CDKN1C, pyrosequencing-based methylation analysis of KvDMR1 and high-density oligonucleotide array comparative genome hybridization analysis for chromosome 11p15.5 were performed, showing an identical de novo and maternally inherited CDKN1C gain-of-function mutation (p.Asp274Asn) in cases 1 and 2, respectively, and no demonstrable abnormality in case 3. The results of cases 1 and 2 with CDKN1C mutation would argue the following: [1] relative macrocephaly is consistent with maternal expression of CDKN1C in most tissues and biparental expression of CDKN1C in the foetal brain; [2] FGD-like phenotype can result from CDKN1C mutation; and [3] genital abnormalities may primarily be ascribed to placental dysfunction. "
3.	Proliferating Cell Nuclear Antigen (PCNA)IBA 01/01/2019 - "Mutations of the PCNA domain of the CDKN1C gene are known to be associated with IMAGe syndrome thus with adrenal disease, although neither affected patient in our case had evidence of adrenal dysfunction. " 01/01/2013 - "However, loss of PCNA binding and suppression of CDKN1C monoubiquitination by IMAGe-associated mutations hardly explain the reduced-growth phenotype characteristic of IMAGe syndrome. " 01/01/2013 - "Mutations in the proliferating cell nuclear antigen (PCNA)-binding domain of the CDKN1C gene were recently identified in patients with IMAGe syndrome. " 05/27/2012 - "Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome." 01/01/2022 - "Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding motif cause a growth-restricted condition called IMAGe syndrome. "
4.	Cyclin-Dependent Kinase Inhibitor p57IBA 01/01/2012 - "Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). " 03/01/2016 - "Some genetic alterations suggest a role for increased dosage of the imprinted CYCLIN DEPENDENT KINASE INHIBITOR 1C (CDKN1C) gene, often mutated in IMAGe Syndrome and Beckwith-Wiedemann Syndrome (BWS). "
5.	NucleotidesIBA 01/01/2021 - "A whole exome sequencing procedure with use of SureSelectXT Human ALL Exon V7, confirmed a single nucleotide variant NM_000076.2(CDKN1C):c.820G>A (p.Asp274Asn); identifying a missense mutation in the imprinted gene CDKN1C associated with IMAGe syndrome. " 01/01/2019 - "Results: All published single nucleotide variants associated with IMAGe syndrome are located in a highly-conserved "hot-spot" within the PCNA-binding domain of CDKN1C between codons 272-279. "
6.	Amino AcidsFDA Link 07/06/2023 - "The amino acid changes in this specific region were located in a narrow functional region that contained mutations previously associated with IMAGe syndrome. " 10/19/2020 - "This specific amino acid change is located within a narrow functional region containing the mutations previously associated with IMAGe syndrome. "
7.	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/01/2020 - "We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). "
8.	SteroidsIBA 01/01/2014 - "Patients with IMAGe syndrome present as an uncommon yet important challenge for dentists and anesthesiologists due to their wide range of dysmorphic facial features, adrenal insufficiency, electrolyte imbalances, and need for steroid replacement. "
9.	ElectrolytesIBA 01/01/2014 - "Patients with IMAGe syndrome present as an uncommon yet important challenge for dentists and anesthesiologists due to their wide range of dysmorphic facial features, adrenal insufficiency, electrolyte imbalances, and need for steroid replacement. "
10.	DNA Polymerase IIIBA 12/06/2018 - "DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency."