Diagnosis

On this page are listed some articles on investigation of genetic causes for various manifestations. All references listed are intended for physicians who see patients investigating genetic diseases. Research flowcharts should be evaluated with caution, as the prevalence of certain genetic conditions can be significantly different in the population for which the flowchart was proposed. Some of the references are restricted to subscribers or for whom institutional access.

Aortopathy, aortic aneurysm and aortic dissection

Caruana et al.  2022 - HARD working group research recommendations for aortopathies

Richer & Laberge, 2016 - review on testing for aortopathies in children.

Autism Spectrum Disorders

Schaefer, 2013 - ACMG recommendations

Autoinflammatory diseases and periodic fever

Hashkes et al., 2019 - Clinical approach to diagnosis of autoinflammatory disorders

Gaggiano et al., 2019 - Autoinflammatory disorders in adults. Includes useful flowcharts and hints.

Almeida de Jesus et al., 2013 - Includes images and describe the categories for "classical" autoinflammatory disorders.

Breast cancer

Daly et al., 2020 - NCCN Screening Criteria for Breast, Ovarian, and Pancreatic Cancer, 2020 Update

Ashton-Prolla, 2009 - simplified questionnaire to identify hereditary breast cancer in primary health care.

Cancer

Lindor, 2008 - familial cancer overview

Candidiasis and other recurrent fungal diseases

Zhang et al., 2020 - review on monogenic causes of fungal diseases.

Cardiomyopathies

Valentini et al., 2022 - Diagnostic and prognostic value of low QRS voltages in cardiomyopathies

Monda E et al., 2021 - Nonsarchomeric causes of hypertrophic cardiomyopathy (HCM) in children

Scurr I et al., 2011 - Detailed phenotipic description of Cantú syndrome, a cause of HCM in children

Reid AB et al., 2021 - MELAS case report. Includes a figure comparing findings of MELAS, Anderson-Fabry and HCM 

Van Hove et al, 2013 - Late onset MPS IIIA as a cause of HCM without neurologic involvement.

GAMUTS - Metabolic causes of cardiomyopathy and other cardiovascular phenotypes

 

Cholestasis

Genereviews - overview of Pediatric Genetic Cholestatic Liver Diseases

Colorectal cancer

Gupta et al., 2019 - review of NCCN criteria for testing for colorectal cancer predisposition syndromes.

Cohen & Leininger, 2014 - review on the genetic bases of Lynch syndrome

Sereno et al., 2014 - review on MUTYH-associated polyposis

Hedge et al., 2013 - review of the main syndromes associated with susceptibility to colorectal cancer, with criteria for testing.

Deafness and hearing loss

Alford, 2014 - ACMG recommendations on clinical investigation and etiological diagnosis of hearing loss

GAMUTs - Metabolic causes of hearing loss and other ear phenotypes

Developmental delay and intellectual disability

Zubler et al., 2022 - Revised evidence-based development milestones

ACMG, 2020 - Systematic review on outcomes of exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Mithyantha et al., 2017 - Evidence-based recommendations on investigating children with global developmental delay

Treatable-ID - allows searching for treatable causes of intellectual disability, according to associated signs and symptoms

Dystonia

Forman et al., 2020 - Comprehensive review of genetic causes in children and how to recognize them.

GAMUTS - Metabolic causes of dystonia and other movement disorders

Elevated 7 dehydrocholesterol

Gillespie et al., 2014 - Mild elevations of 7-DHC in Lanosterol C14-Demethylase (CYP51A1) a condition associated with isolated or syndromic cataracts

der Velden, et al. 2008 - Cerebrotendinous xanthomatosis with elevated 7-DHC

Witsch-Baumgartner et al., 2000 - Correlation between DHC levels and severity of Smith Lemli Opitz syndrome

Elevated glycosaminoglycans

Maccari et al., 2003 - elevated heparan sulfate in gel electrophoresis of patients with Pseudoxanthoma elasticum

Schmidt et al., 2016 - elevation of GAGs in septic shock

Thompson J.N., 2003 - includes a useful figure (Fig. 18.4) with a flowchart for conditions with elevated glycosaminoglycans in patients with a clinical impression of MPS

Elevated methylmalonic acid

Keyfi et al., 2016 - Differential diagnosis of methylmalonic acidemias. Includes an interesting table with both serum and urinary levels of MMA.

 

Epilepsy

Axeen & Oslon, 2018 - Neonatal epilepsy genetics

Gastric cancer

Blair et al., 2020 - review on diffuse gastric cancer, with guidelines on research and clinical management.

Glomerular Diseases

Freedman & Cohen, 2015 - Discusses APOL1 vs hypertension-attributed nephropathy

Vairo FP, et al., 2020 - Nail-patella syndrome as a cause of FSGS with myelin figures simulating Fabry Disease

Hamartomatous polyposis

Jelsig et al., 2014 - review of hamartomatous polyposis syndromes.

Hepatomegaly, splenomegaly and lymphoproliferation

UpToDate - Comprehensive review of genetic and non-genetic causes of hepatomegaly in adults.

Costagiola G, et al., 2024 - A review on causes of lymphoproliferation in childhood.

GAMUTs - Metabolic causes of hepatomegaly and other liver disorders

Hyperinsulinism, syndromic

Zenker et al., 2023 - A review on causes of syndromic hyperinsulinism

Jaundice

Sato et al., 2020 - Bile acid reference values to aid in the investigation of disorders of bile acid synthesis.

Kidney cancer

Motzer et al., 2020 - Review of NCCN Kidney Cancer Testing Criteria

Hasumi & Yao, 2018 - review on kidney cancer predisposition syndromes

Megaloblastic anemia and macrocytosis

Pillai et al., 2020 - Riboflavin Transporter Deficiency presenting as megaloblastic anemia with neurological symptoms

Torrez et al., 2021 - Acquired megaloblastic anemia

Cackmakli et al., 2019 - Macrocytosis in Lesch-Nyhan syndrome

GAMUTs - Lists IEMs associated to hematological abnormalities, including megaloblastic and macrocytic anemia

Movement disorders

Piscitello LM et al., 2021 - useful reference on benign movement disorders in normal infants with video examples

 

Non-immune hydrops fetalis

Sparks et al., 2020 - original research evaluating exome yield for prenatal diagnosis.

Ovary cancer

Daly et al., 2020 - NCCN Screening Criteria for Breast, Ovarian, and Pancreatic Cancer, 2020 Update

Pancreatic cancer

Daly et al., 2020 - NCCN Screening Criteria for Breast, Ovarian, and Pancreatic Cancer, 2020 Update

Rustgi, 2014 - hereditary pancreatic cancer review

Pontocerebellar hypoplasia

Rüsch et al., 2020 - Describe MRI findings and checklist for clinical features to aid in the diagnosis.

Dijk et al., 2018 - Review of PCH genes and differential diagnoses

Psychiatric symptoms

Medjkane et al., 2021 - case series and review

GAMUTS - Metabolic causes of psychiatric symptoms

Short stature

Mintz et al., 2021 - ACMG guidelines

Skeletal dysplasias

ACMG, 2009 - ACMG guidelines for prenatal diagnosis of skeletal dysplasias

Stroke

Testai & Gorelick, 2010Testai & Gorelick, 2010. review of metabolic causes of stroke.

Saadoun et al., 2021 - Review of medium and large vessel vasculitis.

Sudden death and family history of sudden death

Stiles et al. - Review of causes of sudden death by the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS).

Vascular skin lesions

Sharkie & Jabbar, 2021 - review of causes of angiokeratomas

GAMUTs - metabolic causes of vascular skin lesions and other dermatoses

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