The classic triad may not be present in all individuals. [ncbi.nlm.nih.gov]

The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. [malacards.org]

TEST CHARACTERISTICS 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) Not determined; probably >95%. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) Difficult to comment on as [nature.com]

Dyskeratosis congenita presenting with dysphagia. Indian Dermatol Online J 2016;7:275-7 How to cite this URL: Gupta K, Tripathi S, Agarwal N, Bareth A. Dyskeratosis congenita presenting with dysphagia. [idoj.in]

Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. [rarediseases.org]

• Developmental Delay

  Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. [malacards.org]

  […] onset of hypotonia and developmental delay with subsequent impaired intellectual development and severe speech delay. [ncbi.nlm.nih.gov]

  Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome.. Note=The disease is caused by mutations affecting the gene represented in this entry. [antibodyplus.com]

• Short Stature

  Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke (summary by Bergmann et al., 2009 ). [mendelian.co]

  These include: Hoyeraal–Hreidarsson syndrome – very short stature, bone marrow failure, immunodeficiency, underdeveloped cerebellum idiopathic aplastic anaemia (anaemia due to bone marrow failure) myelodysplasia (bone marrow failure) idiopathic pulmonary [dermnetnz.org]

  Learning difficulties, mild-to-moderate developmental delay, or short stature may be seen in some patients. Low bone density increases the risk of fractures. [seattlecca.org]

  stature (16%) Cutaneous signs: Hyperpigmentation, telangiectasia, atrophy (poïkilodermia) Dystrophic nails and palmoplantar keratoderma, hyperhidrosis Mucosal leucoplakia Dental caries or loss ( 18%) Blepharitis, conjunctivitis, epiphora (36%) Sparse [atlasgeneticsoncology.org]

• Falling

  Dyskeratosis congenita often causes the fingernails and toenails to grow poorly, fall off, and have ridges or a thin "spoon" shape. Skin abnormalities. [stanfordchildrens.org]

  Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. [invitae.com]

  MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]

• Developmental Disorder

  These conditions include schizophrenia, anxiety, intellectual disability, attention-deficit/hyperactivity disorder, adjustment disorder, mood disorders, or pervasive developmental disorders. [26] Mortality/morbidity In an analysis of individuals with [emedicine.medscape.com]

  Platelet-Type, 11 3 Bleeding Disorder, Platelet-Type, 13, Susceptibility To 3 Bleeding Disorder, Platelet-Type, 14 2 Bleeding Disorder, Platelet-Type, 15 2 Bleeding Disorder, Platelet-Type, 17 3 Bleeding Disorder, Platelet-Type, 18 1 Bleeding Disorder [preventiongenetics.com]

• Crying

  Cri du Chat syndrome Cri du chat (‘cat cry’) syndrome is also known as 5p-syndrome is caused by a deletion on the short arm of chromosome 5 (5p). [news-medical.net]

• Dyspnea

  Case Report A 33 year old male patient, non – addict, was admitted to the hospital with complaint of class II dyspnea, easy fatiguability and generalized weakness since 3 years. [japi.org]

  Individuals with anemia may experience tiredness, increased need for sleep, weakness, lightheadedness, dizziness, irritability, headaches, pale skin color, difficulty breathing (dyspnea), and cardiac symptoms. [rarediseases.org]

• Dysphagia

  Dyskeratosis congenita presenting with dysphagia. Indian Dermatol Online J 2016;7:275-7 How to cite this URL: Gupta K, Tripathi S, Agarwal N, Bareth A. Dyskeratosis congenita presenting with dysphagia. [idoj.in]

  His disease took a rapidly progressive course with severe dysphagia and vomiting developing over 3 weeks. In addition, he developed severe pancytopenia with acute liver failure and succumbed to his illness 4 months after the initial diagnosis. [bmcmedgenet.biomedcentral.com]

  3 1 Myopathy, Congenital, Compton-North 4 Myopathy, Distal, 1 3 Myopathy, Distal, 2 3 Myopathy, Distal, 4 2 Myopathy, Distal, Tateyama Type 1 Myopathy, Distal, With Anterior Tibial Onset 3 Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia [preventiongenetics.com]

• Abdominal Pain

  pain Spontaneous abortion Otitis media Pulmonary arterial hypertension Visual loss Leukopenia Clumsiness Myeloid leukemia Severe sensorineural hearing impairment Aplastic anemia Verrucae Somatic mutation Arterial thrombosis Fever Microcephaly Abnormal [mendelian.co]

• Hyperpigmentation

  It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. [malacards.org]

  Dyskeratosis congenita: nail dystrophy dyskeratosis congenita A rare X-linked or autosomal dominant disease characterized by dystrophic formation of the nails, oral leukoplakia, and hyperpigmentation of the skin. [medical-dictionary.thefreedictionary.com]

• Alopecia

  2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

  The patient had diffuse alopecia over the scalp. The nails were brittle with vertical ridges [Figure 4]. There was no abdominal organomegaly or free fluid. [e-ijd.org]

  Cutaneous signs: Hyperpigmentation, telangiectasia, atrophy (poïkilodermia) Dystrophic nails and palmoplantar keratoderma, hyperhidrosis Mucosal leucoplakia Dental caries or loss ( 18%) Blepharitis, conjunctivitis, epiphora (36%) Sparse eyebrows / eyelashes Alopecia [atlasgeneticsoncology.org]

  He had alopecia in the outer third of his eyebrows (Omnibus sign) and a saddle nose (Figure 1B, C). Micropenis was present and the testicles were found to be hypoplastic (left testicle: 11x5mm, right testicle: 10x5mm). [hormones.gr]

  […] nonsyndromic SLC24A5 Albinism, oculocutaneous type 1A TYR Albinism, oculocutaneous type 1B TYR Albinism, oculocutaneous type 2 OCA2 Albinism, oculocutaneous type 3 TYRP1 Albinism, oculocutaneous type 4 SLC45A2 Albinism, oculocutaneous type 5 C10ORF11 Alopecia [centogene.com]

• Palmoplantar Keratosis

  Typical features include palmoplantar keratosis, painful corneal ulcers, and mental retardation. [ read more ] 1357662 TERT causing DKCA2 613989 The disease is caused by mutations affecting the gene represented in this entry. [nectarmutation.org]

• Blepharitis

  Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, [ncbi.nlm.nih.gov]

  Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. [ read more ] 9341865 [nectarmutation.org]

  […] membranes, bone marrow Phenotype and clinics Short stature (16%) Cutaneous signs: Hyperpigmentation, telangiectasia, atrophy (poïkilodermia) Dystrophic nails and palmoplantar keratoderma, hyperhidrosis Mucosal leucoplakia Dental caries or loss ( 18%) Blepharitis [atlasgeneticsoncology.org]

  The clinical spectrum includes various presentations with bone marrow failure, pulmonary fibrosis, liver failure, oesophageal stenosis, urethral stenosis, as well as eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis [bmcmedgenet.biomedcentral.com]

  Keratinization of the lid margins, absent lacrimal puncta, trichiasis, cicatrizing conjunctivitis, entropion, ectropion, blepharitis, sparse eyelashes, and symblephara are important features. [disorders.eyes.arizona.edu]

• Excessive Tearing

  A proposed modification of the definition is: One or more features of the classic mucocutaneous triad Bone marrow failure, such as aplastic anaemia Two or more of the other internal changes known to occur in dyskeratosis congenita: eyes – excessive tears [dermnetnz.org]

• Spastic Paralysis

  15 4 Spastic Paraplegia 17 4 Spastic Paraplegia 18 3 Spastic Paraplegia 2 4 Spastic Paraplegia 26 3 Spastic Paraplegia 28 4 Spastic Paraplegia 3 4 Spastic Paraplegia 30 4 Spastic Paraplegia 31 4 Spastic Paraplegia 33 2 Spastic paraplegia 35 4 Spastic [preventiongenetics.com]

Ten of the patients included in this study were also included in our previous study.8 Flow FISH lymphocyte telomere length was measured in 41 patients as part of the diagnostic workup for DC; 3 patients did not have telomere length test results available [ng.neurology.org]

In surgical neuropathology practice, the diagnostic workup of diffuse gliomas, medulloblastomas, low-grade circumscribed gliomas, as well as other diseases, now routinely incorporates the results of genomic studies. [cancerindex.org]

The most common chemotherapeutic drug used for treatment has been 5-fluorouracil (5-FU), but development of patient drug resistance is a major obstacle to successful treatment. [oda.hioa.no]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Pedigree: X-linked recessive, carrier mother X-linked recessive, father affected Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Diagnosing the condition is very important so treatment can start. [seattlechildrens.org]

[…] agents or emollients may be the only treatment required. [slideshare.net]

TREATMENT AND PROGNOSIS • Treatment of the warty dyskeratoma consists of conservative excision. • The prognosis is excellent; these lesions have not been reported to recur, and they have no apparent malignant potential. 30. [slideshare.net]

[…] related to RTEL1 gene prognosis reporting PUBMED functional study RTEL1 staging "The association of gastric non-Hodgkin's lymphoma ...... " 2087111 RTEL1 metastasis; tumorigenesis; staging "Recurrent amplification of RTEL1 and ABCA13 and it ...... " [cis.hku.hk]

What is the Prognosis of Dyskeratosis Congenita? (Outcomes/Resolutions) The prognosis of Dyskeratosis Congenita depends on the severity of the signs and symptoms. [dovemed.com]

Down-regulation of MicroRNA-126 in Glioblastoma and its Correlation with Patient Prognosis: A Pilot Study. [cancerindex.org]

PMID: 16394462 Prognosis Güngör T, Corbacioglu S, Storb R, Seger RA Bone Marrow Transplant 2003 Mar;31(5):407-10. doi: 10.1038/sj.bmt.1703844. PMID: 12634734 [ncbi.nlm.nih.gov]

Abstract The role of genetic polymorphisms in pediatric brain tumor (PBT) etiology is poorly understood. [zora.uzh.ch]

Etiology Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article Diagnosis Bizarro J, Meier UT Mol Genet Genomic Med 2017 Nov;5(6):805-808. Epub 2017 Aug 15 doi: 10.1002/mgg3.314. [ncbi.nlm.nih.gov]

[…] oral carcinoma ( 10972098, 8060104 ) laryngeal carcinoma ( 20198396 ) Associations idiopathic pulmonary fibrosis ( usual interstitial pneumonia - UIP) ( 11641517, 9701856, 18370353, 17392301, 15945534 ) noncirrhotic portal hypertension ( 12925870 ) Etiology [humpath.com]

Dyskeratosis Congenita with Portal Hypertension of Unknown Etiology Neelam N Redkar***, Dharmendra B Pandey**, HR Jerajani****, Rupal Padhiyar**, Aniruddha Dhokare* *Junior Resident, **Lecturer, ***Associate Professor, ****Professor, Department of Medicine [japi.org]

These findings are consistent with previous studies suggesting more clinical complications in patients with TBDs due to recessive or TINF2 disease and that these genetic etiologies result in exceedingly short telomeres.14,15 Notably, there were fewer [ng.neurology.org]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare non-melanic pigmentary disorders. [link.springer.com]

SAS: MD, Branch Chief, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, USA. [bmcmedgenet.biomedcentral.com]

Relevant External Links for NHP2 Genetic Association Database (GAD) NHP2 Human Genome Epidemiology (HuGE) Navigator NHP2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NHP2 No data available for Genatlas for NHP2 Gene Mutations in the [genecards.org]

This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare non-melanic pigmentary disorders. [link.springer.com]

At present, it is unclear if defective pseudouridylation and/or rRNA processing plays any role in the pathophysiology of X-linked dyskeratosis congenita, but the clinical phenotype observed in highly proliferative tissues and stem cells of dyskeratosis [tandfonline.com]

Young Blood 2016 128:1044; Abstract The pathophysiology of bone marrow failure (BMF) can be immune, as in acquired aplastic anemia (AA), or constitutional, due to germline mutations in genes critical for DNA repair and telomere maintenance. [bloodjournal.org]

Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: An update from the Diamond Blackfan Anemia Registry. Pediatric Blood & Cancer, Vol. 46, Issue. 5, p. 558. CrossRef Google Scholar [cambridge.org]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Telomeres are highly specialized structures composed of TTAGGG nucleotide repeats and proteins that protect chromosome ends. [mayocliniclabs.com]

Cancer Research UK recently distributed a press release discussing the possibility for tumor prevention through the work of what is called a “DNA unraveler”. [igeaneuro.com]

Resolves G4 structures, preventing replication pausing and double-strand breaks (DSBs) at G4 motifs. Involved in the maintenance of telomeric DNA. [string-db.org]

While telomerase activity per se is dispensable for suppression of the Rtel1 telomere phenotype, blocking telomerase assembly or preventing its recruitment to the telomere is sufficient to mitigate the effects of deleting Rtel1. [lifesci.dundee.ac.uk]

Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere. [cusabio.com]

The treatments measures may include the following: Use of moisturizing creams to prevent damage to the skin Good dental hygiene to help prevent early tooth loss. [dovemed.com]