Occipital horn syndrome

A rare X-linked recessive connective tissue disorder characterized by hyperelastic and bruisable skin, HERNIAS, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the OCCIPITAL BONE are a common feature. Mutations in the ATP7A gene have been identified. OMIM: 304150

Also Known As:

Networked: 48 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Menkes Kinky Hair Syndrome (Menkes Disease)
2.	Hepatolenticular Degeneration (Wilson's Disease)
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
5.	Type IV Ehlers-Danlos Syndrome

Experts

1.	Kaler, Stephen G: 6 articles (05/2015 - 01/2002)
2.	Kodama, Hiroko: 3 articles (06/2012 - 03/2011)
3.	Timmerman, Vincent: 2 articles (10/2019 - 03/2010)
4.	Yi, Ling: 2 articles (05/2015 - 05/2014)
5.	Bhadhprasit, Wattanaporn: 2 articles (03/2012 - 03/2011)
6.	Fujisawa, Chie: 2 articles (03/2012 - 03/2011)
7.	Tang, Jingrong: 2 articles (03/2010 - 11/2006)
8.	Liu, Po-Ching: 2 articles (02/2003 - 01/2002)
9.	Alworth, Samuel V: 1 article (01/2021)
10.	Armstrong, Judith: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Occipital horn syndrome:

1.	Protein Isoforms (Isoforms)IBA 08/01/1998 - "Other studies of a patient with occipital horn syndrome, an allelic variant of Menkes disease, have demonstrated that only this alternatively spliced isoform and not the full-length form is expressed in this patient. "
2.	CopperIBA 06/01/2015 - "Occipital horn syndrome is a rare X-linked recessive connective tissue disorder caused by deficient copper transport. " 11/01/2006 - "We studied two brothers with typical occipital horn syndrome and used yeast complementation and timed growth assays, exploiting a Saccharomyces cerevisiae mutant strain, to assess in vitro N1304S copper transport. " 11/01/2006 - "Our objective was to characterize a novel occipital horn syndrome mutation (N1304S) not associated with aberrant splicing and to determine whether functional copper transport was associated with this allele. " 11/01/2006 - "Functional copper transport explains neurologic sparing in occipital horn syndrome." 05/01/2001 - "The phenotype was more consistent with occipital horn syndrome, a milder allelic disorder of copper metabolism, than with classic MD. "
3.	Copper Transport ProteinsIBA 12/01/2019 - "Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. " 01/01/2021 - "The ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). " 05/01/2014 - "Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome. " 01/01/2021 - "Wilson's disease and Menkes disease are neurodevelopmental disorders resulting from mutations in the copper transporters ATP7A and ATP7B, with ATP7A mutations also causing occipital horn syndrome, and distal motor neuropathy. " 01/01/2020 - "ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders. "
4.	Copper-Transporting ATPasesIBA 03/01/1995 - "Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse." 10/01/2019 - "Mutations in the ATP7A gene, encoding for a copper-transporting ATPase, have been associated with the severe infantile neurodegenerative Menkes disease and in its milder variant, the Occipital Horn Syndrome. " 11/01/1996 - "Occipital horn syndrome (OHS), an X-linked connective tissue disorder, has recently been shown to result from mutations in the Menkes disease gene (MNK), which encodes a copper-transporting ATPase. " 01/01/2018 - "Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that include Menkes disease, occipital horn syndrome, and ATP7A-related distal motor neuropathy. "
5.	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 04/01/2012 - "Mutations in ATP7A cause Menkes disease and occipital horn syndrome (OHS), allelic X-linked recessive conditions that feature vascular abnormalities ascribed to low activity of lysyl oxidase, a copper-dependent enzyme. " 04/01/1996 - "We report here that the amount of lysyl oxidase mRNA, as studied by Northern blotting, and the number of lysyl oxidase mRNA molecules per picogram of RNA, as determined by a quantitative PCR method, were decreased in three cultured skin fibroblast lines from patients with the Menkes syndrome and two from patients with the occipital horn syndrome compared with four control cell lines. " 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "
6.	P-type ATPasesIBA 05/01/2015 - "ATP7A is a P-type ATPase in which diverse mutations lead to X-linked recessive Menkes disease or occipital horn syndrome. " 02/05/2003 - "Menkes disease and occipital horn syndrome (OHS) are allelic disorders of copper transport caused by defects in a X-linked gene (ATP7A) that encodes a P-type ATPase that transports copper across cellular membranes, including the trans-Golgi network. " 12/01/2016 - "Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.1,2 About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.2 The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B. "
7.	Collagen Type III (Type III Collagen)IBA 01/01/1995 - "Recent advances in the molecular analysis of EDS have identify defects responsible for EDS VI (homozygous and compound heterozygous mutations in the lysyl-hydroxylase gene), EDS VIIA and EDS VIIB (mutations in the type I collagene genes), EDS VIIC (deficiency of procollagen N-proteinase), EDS IX (mutations in the MNK gene), and EDS IV (mutations in the type III collagen gene). " 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "
8.	Procollagen N-Endopeptidase (Procollagen Peptidase)IBA 01/01/1995 - "Recent advances in the molecular analysis of EDS have identify defects responsible for EDS VI (homozygous and compound heterozygous mutations in the lysyl-hydroxylase gene), EDS VIIA and EDS VIIB (mutations in the type I collagene genes), EDS VIIC (deficiency of procollagen N-proteinase), EDS IX (mutations in the MNK gene), and EDS IV (mutations in the type III collagen gene). " 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "
9.	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 01/01/1995 - "Recent advances in the molecular analysis of EDS have identify defects responsible for EDS VI (homozygous and compound heterozygous mutations in the lysyl-hydroxylase gene), EDS VIIA and EDS VIIB (mutations in the type I collagene genes), EDS VIIC (deficiency of procollagen N-proteinase), EDS IX (mutations in the MNK gene), and EDS IV (mutations in the type III collagen gene). " 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "
10.	Adenosine Triphosphatases (ATPase)IBA 11/01/2006 - "Both phenotypes are caused by mutations in ATP7A, which encodes a copper-transporting adenosine triphosphatase, although defects causing occipital horn syndrome are rarely reported and nearly always involve exon-skipping (six of eight prior reports). " 03/01/1997 - "Menkes' disease (MD) and occipital horn syndrome (OHS) are allelic X-linked disorders caused by mutations in the copper ion transporting ATPase, ATP7A. "

Therapies and Procedures

1.	Complementary Therapies (Alternative Medicine) 08/01/1999 - "Therefore, alternative therapies for Menkes disease and occipital horn syndrome should be studied."