Presentation
If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. [dovemed.com]
Although others have presented theories on this topic, hers remains the most commonly accepted theory in nursing. 3. [sarcomacancer.org]
Entire Body System
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Fever
Tunglang Savage Bellman syndrome * Vohwinkel\'s mutilating keratoderma * Otospondylomegaepiphyseal dysplasia * Robinson\'s syndrome * Charcot-Marie-Tooth-Hoffmann syndrome, X-linked type 2 * Klippel-Feil syndrome * Fanconi anaemia * Blau syndrome * Typhus fever [checkorphan.org]
Tularemia Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS) Tungiasis Tunglang Savage Bellman syndrome Turcot syndrome Turner syndrome Twenty-nail dystrophy Twin twin transfusion syndrome Tylosis Type 1 plasminogen deficiency Typhoid fever [personalizedcause.com]
Syndromes Coma Gallbladder radionuclide scan Gaseous abdominal fullness Anaphylaxis (a rare but severe allergic reaction) Irregular vaginal bleeding Cataracts Multiple-sleep latency test Low blood pressure Look for the cause of a fever There are very [sarcomacancer.org]
[…] creases * Deletion 6q16 q21 * Delleman Oorthuys syndrome * Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency * Delta-sarcoglycanopathy * Dementia, familial British * Dementia, familial Danish * Demodicidosis * Demyelinating diseases * Dengue fever [medicalgeek.com]
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Anemia
congenital * Dyserythropoietic anemia, congenital type 1 * Dyserythropoietic anemia, congenital type 2 * Dyserythropoietic anemia, congenital type 3 * Dysesthetic Vulvodynia * Dysferlinopathy * Dysfibrinogenemia, familial * Dysgerminoma * Dysgnathia [medicalgeek.com]
[…] degeneration symmetrical infantile Thalamic degeneration symmetric infantile Thalassemia Thanatophoric dysplasia Glasgow variant Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Theodor Hertz Goodman syndrome Thiamine responsive megaloblastic anemia [personalizedcause.com]
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Inflammation
Begin the physical examination by inspecting the external ear for inflammation, boils, foreign bodies, and discharge. Then apply pressure to the tragus and mastoid to elicit tenderness. [checkorphan.org]
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Pain
Does the patient have ear pain? If so, is it unilateral or bilateral, or continuous or intermittent? Ask the patient if he has noticed discharge from one or both ears. If so, have him describe its color and consistency, and note when it began. [checkorphan.org]
Liver, Gall & Pancreas
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Jaundice
[…] type 2 * Klippel-Feil syndrome * Fanconi anaemia * Blau syndrome * Typhus fever * Mucosulfatidosis * Upper respiratory tract infection * Glomus jugulare tumor * Down syndrome * ABCD syndrome * Iduronate sulphatase deficiency * Rickettsiae * Neonatal jaundice [checkorphan.org]
Cholestasis, intrahepatic of pregnancy * Cholestasis, progressive familial intrahepatic 1 * Cholestasis, progressive familial intrahepatic 2 * Cholestasis, progressive familial intrahepatic 3 * Cholestasis, progressive familial intrahepatic 4 * Cholestatic jaundice [medicalgeek.com]
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Neonatal Jaundice
jaundice * Biotinidase deficiency * Athabaskan brain stem dysgenesis * Johanson-Blizzard syndrome * Basilar artery migraine * Wegener\'s granulomatosis * Multiple lentigines syndrome * I-cell disease * Galactosamine-6-sulfatase deficiency * Head injury [checkorphan.org]
Musculoskeletal
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Fracture
Thyroid cancer Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Ti-Tl Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [bioreference.net]
Thyroid cancer Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Ti–Tn Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [ipfs.io]
[…] cancer Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Ti–Tn [ edit ] Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [en.wikipedia.org]
Ears
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Hearing Impairment
Human phenotypes related to Tunglang Savage Bellman Syndrome: 59 32 # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407 2 hyponatremia 59 32 hallmark [malacards.org]
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Hearing Problem
The complications of Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome may include: Severe loss of hearing Depression Withdrawal from society, due to hearing problems Coma, resulting from untreated hyponatremia Complications may [dovemed.com]
Neurologic
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Dizziness
Does he experience dizziness? If so, when did he first notice it? Begin the physical examination by inspecting the external ear for inflammation, boils, foreign bodies, and discharge. [checkorphan.org]
The signs and symptoms of Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome may include the following: Low levels of sodium in blood, which can cause: Headaches Nausea Dizziness, confusion Weakness, fatigue Elevated plasma aldosterone [dovemed.com]
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Neurologic Manifestation
Diseases Nervous System Diseases Neurologic Manifestations Sensation Disorders Hearing Disorders Hearing Loss Hearing Loss, Sensorineural Tunglang Savage Bellman syndrome 4. [ctdbase.org]
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Sensation Disorder
Diseases Nervous System Diseases Neurologic Manifestations Sensation Disorders Hearing Disorders Hearing Loss Hearing Loss, Sensorineural Tunglang Savage Bellman syndrome 4. [ctdbase.org]
Workup
Serum
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Hyponatremia
Human phenotypes related to Tunglang Savage Bellman Syndrome: 59 32 # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407 2 hyponatremia 59 32 hallmark [malacards.org]
Last updated May 29, 2018 Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. [dovemed.com]
Treatment
Treatment - Tunglang Savage Bellman syndrome The list of treatments mentioned in various sources for Tunglang-Savage-Bellman syndrome includes the following list. [checkorphan.org]
and in some cases, due to treatment also. [dovemed.com]
Aortic dissection: summary diagnosis and exigency treatment are criti- cal. Peptide liberation is normally affected by incessant treatment with 1 % TFA in DCM or via using TFE in DCM (view Note 18). 1. [sarcomacancer.org]
Prognosis
Prognosis - Tunglang Savage Bellman syndrome Not supplied. Treatment - Tunglang Savage Bellman syndrome The list of treatments mentioned in various sources for Tunglang-Savage-Bellman syndrome includes the following list. [checkorphan.org]
prognosis than those with severe symptoms and complications Typically, the prognosis may be assessed on a case-by-case basis Additional and Relevant Useful Information for Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome: The [dovemed.com]
Etiology
(Etiology) The cause of development of Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome is not clearly known The disorder is believed to be inherited in an autosomal recessive manner Autosomal recessive inheritance: Autosomal [dovemed.com]
Pathophysiology
Fried has extensively explored the cutting-edge data on preclinical and clinical fact-finding on endothelial dysfunction, and he masterfully explains that this dysfunction is the underlying pathophysiological organization behind numerous seditious and [sarcomacancer.org]
Prevention
[…] granulomatosis * Multiple lentigines syndrome * I-cell disease * Galactosamine-6-sulfatase deficiency * Head injury * Diffuse sclerosis of Schilder * Strachan\'s syndrome * Sanfilippo disease * Goldscheider\'s disease * Arias oculootoradial syndrome Prevention [checkorphan.org]
Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]