Symptoma

PDE4D Haploinsufficiency Syndrome

Chromosome 5q12 Deletion Syndrome

Fifty-eight percent of our families presented with the same pituitary adenoma type (homogeneous FIPA families), whereas different adenoma types were present in the same family in 42% of the cases. [clincancerres.aacrjournals.org]

In contrast, the patients with PRKAR1A mutations and ADOHR presented no mental retardation (our series) ( 21 ), although eight of 14 presented some behavioral disorders. [academic.oup.com]

Best Poster Presentation Desmond Chin (PI: A/Prof Motomi Osato) Title: Cbfb deficiency results in differentiation blocks and stem cell/progenitor expansion in hematopoiesis. [csi.nus.edu.sg]

Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. [science.gov]

BDE is present in 70-78% of individuals with PHP [ 19 ]. [ojrd.biomedcentral.com]

  • Pain

    Her research includes the effects and molecular mechanism of natural polyphenols and target synthetic drugs on neurodegenerative and psychiatric disorders, such as age-related cognitive disorders, depression, anxiety, and neuropathic pain. [books.google.es]

    ORPHA Number Disease or Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases or families 2309 Pachyonychia congenita 1000 Cases 1952 Pacman dysplasia 10 Cases 991 PAGOD syndrome 6 Cases 1993 Pai syndrome 37 Cases 300501 Painful [azkurs.org]

    FAMILIAL DYSAUTONOMIA Also known as Riley-Day syndrome, congenital insensitivity to pain, and hereditary sensory and autonomic neuropathy type III. [musculoskeletalkey.com]

  • Marfanoid Habitus

    habitus Growth Weight: decreased body mass index [malacards.org]

    habitus syndrome 4 Cases 672 Pallister-Hall syndrome 100 Cases 140966 Palmoplantar keratoderma, Nagashima type 20 Cases 2202 Palmoplantar keratoderma- deafness syndrome 10 Families 2198 Palmoplantar keratoderma- esophageal carcinoma syndrome 10 Families [azkurs.org]

    habitus X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness X-linked mixed conductive and sensorineural hearing loss X-linked mixed deafness [csbg.cnb.csic.es]

  • Osteoporosis

    Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus. [books.google.de]

    Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. [uniprot.org]

    […] appearance syndrome Acromegaly Acromesomelic dwarfism Acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, Hunter-Thomson type Acromesomelic dysplasia, Maroteaux type Acrometageria Acromicric dysplasia Acroosteolysis dominant type Acroosteolysis with osteoporosis [csbg.cnb.csic.es]

  • Ptosis

    Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: ptosis strabismus esotropia long palpebral fissures Head And Neck Face: long philtrum micrognathia large forehead small chin Skeletal Hands: long fingers Muscle Soft Tissue: hypotonia Neurologic [malacards.org]

    Related symptoms: Autosomal dominant inheritance Hypertelorism Ptosis Depressed nasal bridge Delayed speech and language development SOURCES: MONDO UMLS OMIM More info about CRANIOSYNOSTOSIS 4; CRS4 High match HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE [mendelian.co]

    Dispermic Fertilization Winberg J, Gustavsson P, Lagerstedt-robinson K, Blennow E, Lundin J, Iwarsson E, et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010;152A(9):2277-86 De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis [ki.se]

    B, MRI of a 6-year-old female AIP mutation–positive patient (p.R304*) presenting with acute severe headache and ptosis on the right side due to pituitary apoplexy of a large pituitary adenoma (courtesy of Dr. Miles Levy, Leicester, United Kingdom). [clincancerres.aacrjournals.org]

  • Strabismus

    Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: ptosis strabismus esotropia long palpebral fissures Head And Neck Face: long philtrum micrognathia large forehead small chin Skeletal Hands: long fingers Muscle Soft Tissue: hypotonia Neurologic [malacards.org]

    Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. [mendelian.co]

    Eyes: hooded eyelids, strabismus, and myopia. Psychomotor delay; seizures; cardiovascular anomalies, including aortic and pulmonary stenosis and septal defects; and genitourinary anomalies, including absent kidney and cryptorchidism. [musculoskeletalkey.com]

    Other frequent features are: lymphedema, congenital malformations of the urinary system (30-40%), abnormalities of the external ocular appendages, (epicanthal folds, ptosis, hypertelorism, upward slanting palpebral fissures), strabismus and hypermetropia [ojrd.biomedcentral.com]

    Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-strabismus [csbg.cnb.csic.es]

  • Esotropia

    Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: ptosis strabismus esotropia long palpebral fissures Head And Neck Face: long philtrum micrognathia large forehead small chin Skeletal Hands: long fingers Muscle Soft Tissue: hypotonia Neurologic [malacards.org]

  • Fear

    He has made fundamental contributions to the understanding of neural circuits and neurochemistry related to human anxiety, fear, mood and discovery of new treatment for mood and anxiety disorders. [books.google.de]

    Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors. Biol Psychiatry. 2012;72(3):182–190. Bryn V, Halvorsen B, Ueland T, et al. [medcraveonline.com]

  • Anxiety Disorder

    He is a world expert in the neurobiology and treatment of mood and anxiety disorders. [books.google.de]

  • Psychiatric Manifestation

    […] synopsis from OMIM: 58 Head And Neck Eyes: ptosis strabismus esotropia long palpebral fissures Head And Neck Face: long philtrum micrognathia large forehead small chin Skeletal Hands: long fingers Muscle Soft Tissue: hypotonia Neurologic Behavioral Psychiatric [malacards.org]

  • Cognitive Disorder

    Her research includes the effects and molecular mechanism of natural polyphenols and target synthetic drugs on neurodegenerative and psychiatric disorders, such as age-related cognitive disorders, depression, anxiety, and neuropathic pain. [books.google.es]

    Some of these targets have also reported to be differentially expressed in humans and have been associated with cognitive disorders such as autism. 7 Hence, we selected common target genes that may have these exact or related functions. [medcraveonline.com]

  • Cognitive Disorder

    Her research includes the effects and molecular mechanism of natural polyphenols and target synthetic drugs on neurodegenerative and psychiatric disorders, such as age-related cognitive disorders, depression, anxiety, and neuropathic pain. [books.google.es]

    Some of these targets have also reported to be differentially expressed in humans and have been associated with cognitive disorders such as autism. 7 Hence, we selected common target genes that may have these exact or related functions. [medcraveonline.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.de]

More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. [books.google.es]

Corticotroph adenomas with mutated USP8 are more frequently found in females (67% vs. 38%; ref. 87 ), are smaller tumors, have higher ACTH production, and show better prognosis ( 87, 90 ). [clincancerres.aacrjournals.org]

[…] abstract structured in up to 10 sections: Definition of the disease – Epidemiology – Clinical description – Aetiology – Diagnostic methods – Differential diagnosis - Genetic counseling (if relevant) – Antenatal diagnosis (if relevant) – Management – Prognosis [doczz.fr]

Several risk factors influence the prognosis of breast cancer. For instance, hormonal receptors and oncoproteins could affect the growth rate of cancer. [current-oncology.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene ( PIG-A ) on the X chromosome, which blocks synthesis of the glycolipid moiety and causes deficiency in GPI-anchored proteins. [jimmunol.org]

Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. Orphanet J Rare Dis 2014;9:167. PMID: 25373420. 22. Bae JS, Kim NK, Lee C, Kim SC, Lee HR, Song HR, et al. [e-apem.org]

To date, only an autosomal-recessive inheritance pattern has been described in individuals with this disorder, with a molecular etiology established in about three-fourths of cases. [science.gov]

The purpose of the study was to briefly highlight the role of environmental exposure to the agricultural and combustion pollutant, nitrous oxide (N2O), as a possible etiological factor in neurodevelopmental disorders. [medicalresearch.com]

In some cases, the experts are contacted to answer a specific question (on nomenclature, on genetics or on epidemiological data) in order to update the Orphanet content. [doczz.fr]

Clinical and epidemiological data including cancer family history (FH) is prospectively collected on each consenting patient. [current-oncology.com]

Figure 1 N 57; Epidemiological distribution of the pathological fractures, traumatic fractures, and nonunion. [medcraveonline.com]

He has served on NIH review panels in the neuroscience and drug discovery areas, including as founding Chair of the Pathophysiological Basis of Mental Disorders and Addictions study section, and is Associate Editor for the Journal of Pharmacology and [books.google.es]

We have demonstrated molecular signatures associated with positive and negative regulators in T cells, suggesting novel pathophysiologic mechanisms in PNH. [jimmunol.org]

Additional genes are likely to be identified that may expand our understanding on the pathophysiology of the cAMP signalling pathway and how genetic defects cause CNC and its individual components such as adrenal tumours. [els.net]

By preventing cAMP breakdown, PDE4-Is can enhance intracellular signal transduction and increase the phosphorylation of cAMP response element-binding protein (CREB) and transcription of proteins related to synaptic plasticity and associated memory formation [semanticscholar.org]

Published on behalf of the Royal College of Psychiatrists, the journal’s overriding concern is to improve the prevention, investigation, diagnosis, treatment, and care of mental illness, as well as the promotion of mental health globally. [bjp.rcpsych.org]

who may also be referred to a local specialist to perform the whole cancer prevention process. [current-oncology.com]

Response : Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which affect about 1 in 68 children in the United States, according to data from the Centers for Disease Control and Prevention. [medicalresearch.com]

[…] targets MET (MET receptor tyrosine kinase), TCF4, SNAP25 (synaptosomal-associated protein of 25 kDa) and PTPN11, which are candidate genes for ASD. 103 -107 PAX6 regulation by miR-3666 is not only important to maintain the levels of FOXP2 but also to prevent [medcraveonline.com]