All individuals with variants in gene SCNN1B

25 entries on 1 page. Showing entries 1 - 25.
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00050458 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior 1 1 Johan den Dunnen
00106705 - PubMed: 19462466 - - - - white - - - - Healthy/Control Normal 1 1 Abul Kalam Azad
00106706 - PubMed: Mutesa 2008; PubMed: 19462466 - - - - African/white - - - - Healthy/Control Normal 1 1 Abul Kalam Azad
00106707 - PubMed: 19462466 - - - - white - - - - ? CF-like 1 1 Abul Kalam Azad
00106708 - PubMed: Mutesa 2008; PubMed: 19462466 - - - - African/white - - - - Healthy/Control Normal 1 1 Abul Kalam Azad
00106709 - PubMed: Mutesa 2008 - - - - African - - - - ? CF-like 1 1 Abul Kalam Azad
00106710 - PubMed: Mutesa 2008 - - - - African - - - - ? CF-like 1 1 Abul Kalam Azad
00106711 - PubMed: Mutesa 2008 - - - - African - - - - ? CF-like 1 1 Abul Kalam Azad
00106712 - PubMed: 19462466 - - - - white - - - - ? CF-like 1 1 Abul Kalam Azad
00106713 - PubMed: Mutesa 2008 - - - - African - - - - ? CF-like 1 1 Abul Kalam Azad
00106714 - PubMed: 19462466 - - - - white - - - - ? CF-like 1 1 Abul Kalam Azad
00106715 - PubMed: 19462466 - - - - white - - - - ? CF 1 1 Abul Kalam Azad
00106716 - PubMed: 19462466 - - - - white - - - - ? CF-like 1 1 Abul Kalam Azad
00226267 - PubMed: Chang (1996) - M yes Israel Arabic - - - - PHA1B Dehydration (HP:0001944), hypotension (HP:0002615), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859) 1 1 Susan Tzotzos
00226272 - PubMed: Kerem (1999) - F ? Israel Jewish-Ashkenazi - - - - PHA1B Elevated sweat chloride (HP:0012236), renal salt wasting (HP:0000127), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperreninemia (plasma renin activity > 10 ng/mL/h (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205), tachypnea (HP:0002789) 2 1 Susan Tzotzos
00226273 - PubMed: Belot (2008) - F yes - - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) 1 1 Susan Tzotzos
00226275 - PubMed: Edelheit (2010) - F ? Israel Jewish-Ashkenazi - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), elevated plasma renin activity (HP:0000841), elevated sweat chloride (HP:0012236), renal salt wasting (HP:0000127), seborrheic dermatitis (HP:0007569) 2 1 Susan Tzotzos
00226276 - PubMed: Dogan (2012) - M no Turkey - - - - - PHA1B - 1 1 Susan Tzotzos
00226277 - PubMed: Nobel (2016) - F ? United States African - - - - PHA1B Hyperkalemia (HP:0002153), muscle pain (HP:0003326), increased plasma renin activity (HP:0000841), hyperaldosteronism (HP0000859), metabolic acidosis (HP:0001942). Serum Na+, lower normal range; serum K+, upper normal range. 2 1 Susan Tzotzos
00226278 - PubMed: Saxena (2002) - M yes Scotland - - - - - PHA1B - 1 1 Susan Tzotzos
00226279 - PubMed: Edelheit (2005) - M yes Israel Arabic - - - - PHA1B Hyperkalemia (HP:0002153), hyponatremia (HP:0002902), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841). Recurrent episodes of vomiting (HP.0002013), hyperkalemia (HP:0002153), salt wasting (HP:0000127), dehydration (HP:0001944) necessitated frequent hospitalisation. 1 1 Susan Tzotzos
00235345 - PubMed: Cayir (2019) - M yes Turkey - 00y06m - - - PHA1B Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), skin rash (HP:0001047), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), tachycardia (HP:0001649), tachypnea (HP:0002789), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859). 2 1 Susan Tzotzos
00332560 - PubMed: Seyhanli 2020 - F yes Turkey - - - - - PHA1B HP:0008872, HP:0002902, HP:0001944, HP:0002153, HP:0002615, HP:0001047, HP:0002904, HP:0001262, HP:0001942, HP:0000859, HP:0000841 1 1 Susan Tzotzos
00333489 - PubMed: Gopal-Kothandapani, 2019 - F yes United Kingdom (Great Britain) Asian Pakistani - - - - PHA1B HP:0002902, HP:0002153, HP:0001942, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0001047 1 1 Susan Tzotzos
00377141 Pat1 PubMed: Abdalla 2021 - M yes Sudan - - - - - PHA1B HP:0001945, HP:0002789, HP:0002902, HP:0002153, HP:0001944, HP:0002205, HP:0030828, HP:0012735, HP:0002013, HP:0002014, HP:0001824, HP:0001047, HP:0001942, HP:0000848, HP:0000859, HP:0012236, HP:0003119 1 1 Susan Tzotzos
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