Visually grasp and better understand critical information with the aid of algorithms, photographs, radiographs, and line drawings to illustrate essential concepts, nuances of clinical presentation and technique, and decision making. [books.google.com]

On this page you can find some general statistics about the data present in DIDA. General database statistics Variant effects Almost all variants present in DIDA are non-synonymous: 68.41% are missense, 13.74% are frameshift and 8.79% are nonsense. [dida.ibsquare.be]

The clinical findings of the family presented in this study are very similar to the two cases reported by Al-Awadi and Mégarbané (Table), and it may be suggested that this is the report of a 3rd family with a similar clinical presentation. [jpma.org.pk]

This condition, in which the hypogonadism is secondary and polydactyly is not present, is similar to, but distinct from, the syndromes of Laurence-Moon (245800) and Biedl-Bardet (209900). [omim.org]

Peripheral neuropathy may be present and contribute to motor disability. MRI findings are consistent with hypomyelination with minimal or extremely slow myelination. Myelin is present in the internal capsule and is usually normal in the cerebellum. [rarediseases.org]

• Splenomegaly

  Clinical findings include enlarged, abnormally shaped liver and portal hypertension resulting in splenomegaly, hypersplenism, and gastroesophageal varices. [centogene.com]

  […] impairment Rare Symptoms - Less than 30% cases Tics Male infertility Retinal dystrophy Visual loss Microcephaly Hearing impairment Abdominal pain Nyctalopia External genital hypoplasia Vomiting Global developmental delay Clumsiness Growth delay Neoplasm Pain Splenomegaly [mendelian.co]

• Goiter

  MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND [books.google.com]

  Goiter, multinodular 1, with or with out sertoli-leydig cell tum or s Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Goiter, multinodular 1, with or with out sertoli-leydig cell tum or s phenotype from the curated ClinVar [amp.pharm.mssm.edu]

  Familial, with Hypothyroidism Goiter, Nonendemic Simple Gout, HPRT-related GRACILE Syndrome Greater Agonists Promoted Contractility Greig Cephalopolysyndactyly Syndrome Griscelli Syndrome, Type 2 Growth Hormone Deficiency Growth Hormone Deficiency, [sequencing.com]

  Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. [ojrd.biomedcentral.com]

• Thyroid Nodule

  MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID [books.google.com]

• Fatigue

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Previous 1 2 3 4 ... 7 Next Last [checkrare.com]

  With low levels of thyroid stimulating hormone, people will experience many different symptoms: fatigue, sensitivity to cold, poor ability to concentrate, weight gain, constipation, shortness of breath. [rarediseases.org]

• Swelling

  […] painless testicular mass, or as a testicular swelling with vague discomfort, suggesting a mild epididymitis, though there will be no response to antibiotics Staging germ cell tumors? Stage I limited to the testis, epididymis, or spermatic cord. [quizlet.com]

• Constipation

  With low levels of thyroid stimulating hormone, people will experience many different symptoms: fatigue, sensitivity to cold, poor ability to concentrate, weight gain, constipation, shortness of breath. [rarediseases.org]

  Tics Male infertility Retinal dystrophy Visual loss Microcephaly Hearing impairment Abdominal pain Nyctalopia External genital hypoplasia Vomiting Global developmental delay Clumsiness Growth delay Neoplasm Pain Splenomegaly Fever Blindness Seizures Constipation [mendelian.co]

• Tachycardia

  catecholaminergic polymorphic, 2 CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 TRDN VLCAD deficiency ACADVL Walker-Warburg syndrome (congenital with brain and eye anomalies) FKTN Wilson disease [ceifer.com]

  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC [amp.pharm.mssm.edu]

  […] limb-girdle, type 2A) CARD9 (Candidiasis, familial chronic mucocutaneous, autosomal recessive) CASK (FG syndrome 4) CASP10 (Autoimmune lymphoproliferative syndrome, type II) CASP8 (Autoimmune lymphoproliferative syndrome, type IIB) CASQ2 (Ventricular tachycardia [en.praenatal-medizin.de]

• 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.com]

  100%) HP:0000510 3 pigmentary retinopathy 60 33 obligate (100%) Obligate (100%) HP:0000580 4 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750 5 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823 6 osteoporosis [malacards.org]

  Screening for primary or hypogonadotrophic hypogonadism, as well as osteoporosis, should be done in adulthood. [ojrd.biomedcentral.com]

  ATAXIA AND SEIZURES Nijmegen breakage syndrome nonphotosensitive trichothiodystrophy oculocutaneous albinism Oligodontia-Colorectal Cancer Syndrome Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures orofaciodigital syndrome V osteoporosis-pseudoglioma [rgd.mcw.edu]

  Osteogenesis imperfecta, type XIX; Olmsted syndrome, X-linked; IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked P3H1 Osteogenesis imperfecta, type VIII PLOD2 Bruck syndrome 2 PLS3 Bone mineral density QTL18, osteoporosis [asperbio.com]

• Fracture

  […] hallmark (90%) HP:0003164 15 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513 16 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164 17 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 18 recurrent fractures [malacards.org]

  Gene Set From OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or with out fractures phenotype from the curated OMIM Gene-Disease Associations dataset. sh or t-rib th or acic dysplasia [amp.pharm.mssm.edu]

  Spinal muscular atrophy, distal, X-linked 3 ATP6V0A2 Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome B3GALT6 Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [asperbio.com]

  Type 1 hyperoxaluria is also associated with advanced skeletal age in young patients, increased FGF23 (Fibroblast Growth Factor 23) levels and decreased bone mineral density, thus promoting fractures [ 132 ]. [ojrd.biomedcentral.com]

• Recurrent Fractures

  fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002757 19 reduced bone mineral density 60 Frequent (79-30%) 20 anterior hypopituitarism 60 Very frequent (99-80%) 21 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency 60 Very frequent [malacards.org]

• Myalgia

  […] septal defect Abnormal cardiac septum morphology Nephrotic syndrome Abnormal cornea morphology Absent frontal sinuses Crackles Abnormal respiratory motile cilium morphology Scoliosis Hepatomegaly Diarrhea Erythema Hyperhidrosis Arthritis Arthralgia Myalgia [mendelian.co]

• Paresthesia

  Symptoms of metachromatic leukodystrophy may include seizures, personality changes, spasticity, progressive dementia, painful paresthesias, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness. [rarediseases.org]

• Amenorrhea

  Services Research Training Industry About us Home Ontologies Documentation About Contact Us OLS Orphanet Rare Disease Ontolog ORDO Orphanet:2235 This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea [ebi.ac.uk]

  HP:0000580 4 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750 5 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823 6 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939 7 primary amenorrhea [malacards.org]

  The young woman, aged 18 years, had secondary amenorrhea and polycystic ovaries; her brother, aged 15 years, had gynecomastia and hypergonadotropic hypogonadism. [omim.org]

  The females presented with primary amenorrhea. Both had partial alopecia especially on the temporo-parietal regions of the cranium. Their eyebrows and eyelashes were intact. They had streak ovaries. [jpma.org.pk]

  Bronchitis Immotile cilia Ciliary dyskinesia Recurrent otitis media Otitis media Leukocytosis Dyskinesia Respiratory tract infection Pneumonia Recurrent respiratory infections Primary amenorrhea Schwannoma Pterygium Multiple lentigines Asymmetry of the [mendelian.co]

• Primary Amenorrhea

  Services Research Training Industry About us Home Ontologies Documentation About Contact Us OLS Orphanet Rare Disease Ontolog ORDO Orphanet:2235 This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea [ebi.ac.uk]

  amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000786 8 absence of secondary sex characteristics 60 33 hallmark (90%) Very frequent (99-80%) HP:0008187 9 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144 10 secondary [malacards.org]

  The females presented with primary amenorrhea. Both had partial alopecia especially on the temporo-parietal regions of the cranium. Their eyebrows and eyelashes were intact. They had streak ovaries. [jpma.org.pk]

  The initial findings include one or several of the following features: gait disturbance, visual impairment due to chorioretinal dystrophy or atrophy, anterior hypopituitarism, or delayed puberty/primary amenorrhea. [ncbi.nlm.nih.gov]

  amenorrhea Schwannoma Pterygium Multiple lentigines Asymmetry of the thorax Synovitis Abnormality of color vision Atrial flutter Restrictive cardiomyopathy Neuroblastoma Abnormality of blood and blood-forming tissues Abnormality of the vertebral column [mendelian.co]

• Nocturia

  Brand-new chapters and comprehensive updates throughout include new information on perioperative care in adults and children, premature ejaculation, retroperitoneal tumors, nocturia, and more! [books.google.com]

• Premature Ejaculation

  Brand-new chapters and comprehensive updates throughout include new information on perioperative care in adults and children, premature ejaculation, retroperitoneal tumors, nocturia, and more! [books.google.com]

METHODS: Two unrelated women with a disorder showing retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalograms underwent a comprehensive workup [ncbi.nlm.nih.gov]

• Delayed Bone Age

  bone age due to thyroid hormone metabolism deficiency Short stature-pituitary and cerebellar defects-small sella turcica syndrome Sickle cell anemia Siegler-Brewer-Carey syndrome Staphylococcal necrotizing pneumonia Sudden infant death-dysgenesis of [se-atlas.de]

• Abnormal Thyroid Function Test

  THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL [books.google.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.com]

including rituximab and who either had a treatment-free ... [centerwatch.com]

Diagnosis - Hypogonadism retinitis pigmentosa Home medical testing related to Hypogonadism - retinitis pigmentosa: Vision & Eye Health: Home Testing: Home Eye Tests Home Vision Tests Prognosis - Hypogonadism retinitis pigmentosa Not supplied. [checkorphan.org]

prognosis? -damage to the Leydig cells impairs testosterone production and/or damages the seminiferous tubules, with resulting oligospermia or azoospermia and elevated LH and FSH, in a setting of low testosterone. [quizlet.com]

The prognosis of hereditary haemochromatosis has improved due to earlier genetic screening. [ojrd.biomedcentral.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.es]

Definition, Prevalence, Etiology, and Pathogenesis Prader, Labhart, and Willi described the first patient with this syndrome in 1956. 2 Prader-Willi syndrome (PWS) is the most common syndromal cause of human obesity, with an estimated prevalence of about [clinicalgate.com]

The cases presented may be a part of the syndrome, or an allelic entity, the etiology of which is currently unknown. [jpma.org.pk]

A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med. 1977 Jul 7. 297(1):1-6. [Medline]. Rossman CM, Forrest JB, Lee RM, Newhouse MT. The dyskinetic cilia syndrome. [emedicine.medscape.com]

Etiology is usually unknown. Sperm counts may be slightly low if one testis is undescended but are almost always very low if both are undescended. [msdmanuals.com]

67 Obstructive Azoospermia 83 Azoospermia due to Spermatogenic Failure 97 Ejaculatory Dysfunction 115 Male Contraception 145 Semen Assessment 163 Identification and Preparation of Sperm for ART 169 The Role of Nutraceuticals in Male Fertility 181 The Epidemiology [books.google.com]

Sjögren–Larsson syndrome in Sweden: a clinical, genetic and epidemiologic study. Clin Genetics. 1981;19:233–256. Rogers GR, Rizzo WB, Zlotogorski A, et al. [healio.com]

Fraser syndrome: Epidemiological study in a European population. Am J Med Genet A 2013; 161A:1012–1018. Google Scholar | Crossref | ISI267. Bierich, JR, Christie, M, Heinrich, JJ, Martinez, AS. [journals.sagepub.com]

The molecular pathophysiology of PWS remains unclear, although several candidate genes in this region have been studied and their expression has been shown to be absent in postmortem brains of PWS patients. 4 Balanced translocations that leave the SNURF-SNRPN [clinicalgate.com]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med 1996; 335(25):1870-1878. Nakae J, Tajima T, Sugawara T et al. [endocrine.gr]

On the whole, the pathophysiology of endocrine dysfunctions in IEM remains poorly understood. [ojrd.biomedcentral.com]

N Engl J Med 2003;349:1614-1627 Seminara SB, Hayes FJ, Crowley WF, Jr: Gonado-tropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. [karger.com]

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): Pathophysiological and genetic considerations. Endocr Rev 1998;19:521–539. Google Scholar | ISI23. [journals.sagepub.com]

Prevention - Hypogonadism retinitis pigmentosa Not supplied. [checkorphan.org]

Good dietary control may prevent the formation and progression of cataracts and it has been reported that they may regress as well but only prior to the rupture of cell membranes. [disorders.eyes.arizona.edu]

The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid. [rarediseases.org]

Prevention of Secondary Complications Daily physical therapy is recommended to maintain and improve coordination, muscle strength, and gait; reduce spasticity; and prevent contractures. [ncbi.nlm.nih.gov]

It also prevents closure of the potassium channels, inducing a defect in insulin secretion [ 13 – 15 ]. Insulin sensitivity in skeletal muscle is also decreased [ 15 ]. [ojrd.biomedcentral.com]