Disease #02031 (PHA1B (pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B)), OMIM:264350)

Official abbreviation PHA1B
Name pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B)
OMIM ID 264350
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 69
Phenotype entries for this disease 64
Associated with 3 genes SCNN1A, SCNN1B, SCNN1G
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

69 entries on 1 page. Showing entries 1 - 69.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00225643 - PubMed: Kerem 1999 - M ? - Northern European - - - - PHA1B Renal salt wasting (HP:0000127), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226102 - PubMed: Welzel 2013 - M yes Turkey - 00y11m - - - PHA1B Hyperbilirubinemia (HP:0002904), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205), atopic dermatitis-like rash (HP:0001047) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226103 - PubMed: Chang 1996 - M yes Saudi Arabia - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:000859) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226104 - PubMed: Chang 1996 - F yes Saudi Arabia - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226105 - PubMed: Chang 1996 - F yes Saudi Arabia - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226106 - PubMed: Mora-Lopez 2012 - F no Spain - - - - - PHA1B Elevated sweat choride (HP:0012236), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226108 - PubMed: Kala Ahluwalia 2014 - M no United States - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), dehydration (HP:0001944), metabolic acidosis (HP:0001942), increased plasma renin activity (HP:0000841), elevated plasma aldosterone (HP:0000859), elevated sweat chloride (HP:0012236) SCNN1A, SCNN1B, SCNN1G SCNN1A 2 1 Susan Tzotzos
00226109 - PubMed: Kerem 1999 - M no - Hispanic - - - - PHA1B Elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP:0002205) SCNN1A, SCNN1B, SCNN1G SCNN1A 2 1 Susan Tzotzos
00226122 - PubMed: Welzel 2013 - M yes Turkey - - - - - PHA1B Failure to thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (0000841) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226123 - PubMed: Welzel 2013 - F yes Turkey - - - - - PHA1B Failure thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:000841) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226124 - PubMed: Ekinci 2013 - F yes Korea, South (Republic) Turkish - - - - PHA1B Failure to thrive (HP:0001508), dehydration (HP:0001944), hyponatremia (HP:0002902); hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), elevated sweat choride (HP:0012236) SCNN1A SCNN1A 1 1 Susan Tzotzos
00226125 - PubMed: Dirlewanger 2011 - M yes Sri Lanka - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226137 - PubMed: Schaedel 1999 - M no Sweden - <00y02m - - - PHA1B Dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) - SCNN1A 2 2 Susan Tzotzos
00226138 - PubMed: Schaedel 1999 - M no Sweden - - - - - PHA1B Hyponatremia (HP:0002902), hypokalemia (HP:0002153), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP0002205) SCNN1A, SCNN1B SCNN1A 2 2 Susan Tzotzos
00226139 - PubMed: Welzel 2013 - M yes Sudan - - - - - PHA1B Dehydration (HP:0001944), metabolic acidosis (HP:0001942), tachycardia (HP:0001649), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) SCNN1A SCNN1A 1 1 Susan Tzotzos
00226143 - PubMed: Wang (2013) - F ? China - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942) NR3C2, SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226145 - PubMed: Silva (2013) - M no Portugal - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226146 - PubMed: Edelheit (2005) - M - Poland - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127), metabolic acidosis (HP0001942) SCNN1A, SCNN1B, SCNN1G SCNN1A 2 1 Susan Tzotzos
00226147 - PubMed: Wang (2013) - F ? China - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) SCNN1A, SCNN1B, SCNN1G SCNN1A 2 1 Susan Tzotzos
00226148 - PubMed: Saxena (2002) - M - Pakistan - - - - - PHA1B Dehydration (HP:0001944), hyponatremia (HP:0002902), renal salt wasting (HP:0000127), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226149 - PubMed: Welzel (2013) - F yes Turkey - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127) SCNN1A SCNN1A 1 1 Susan Tzotzos
00226150 - PubMed: Edelheit (2005) - F - Turkey - - - - - PHA1B - SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226151 - PubMed: Welzel (2013) - F yes Turkey - - - - - PHA1B - SCNN1A SCNN1A 1 1 Susan Tzotzos
00226152 - PubMed: Schaedel (1999) - F no Sweden - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) SCNN1A, SCNN1B SCNN1A 1 1 Susan Tzotzos
00226153 - PubMed: Schaedel (1999) - M no Sweden - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) SCNN1A, SCNN1B SCNN1A 2 1 Susan Tzotzos
00226164 - PubMed: Bonny (2002) - F yes - - - - - - PHA1B - SCNN1A, SCNN1B, SCNN1G SCNN1A 1 2 Susan Tzotzos
00226165 - PubMed: Bonny (2002) - M yes - - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), renal salt wasting (HP:0000127), recurrent respiratory infections (HP:0002205) with asthma-like symptoms SCNN1A, SCNN1B, SCNN1G SCNN1A 1 2 Susan Tzotzos
00226166 - PubMed: Welzel (2013) - M yes Turkey - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127), elevated sweat chloride (HP:0012236), recurrent pulmonary infections (HP0002205), skin rashes (HP:0001047) SCNN1A SCNN1A 1 1 Susan Tzotzos
00226168 - PubMed: Chang (1996) - F yes Iran Iran;Jewish - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), recurrent respiratory infections (HP:0002205) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226169 - PubMed: Kerem (1999) - M yes Iran Iran;Jewish - - - - PHA1B Elevated sweat chloride (HP:0012236), recurrent respiratory infections (HP0002205), tachypnea (HP:0002789) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 2 Susan Tzotzos
00226170 - PubMed: Kerem (1999) - M yes Iran Iran;Jewish - - - - PHA1B Elevated sweat chloride (HP:0012236), high concentrations of Cl- and Na+ in saliva and sweat SCNN1A, SCNN1B, SCNN1G SCNN1A 1 2 Susan Tzotzos
00226171 - PubMed: Saxena (2002) - M yes India Indian Muslim - - - - PHA1B Dehydration (HP:0001944), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), renal salt wasting (HP:0000127) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226172 - PubMed: Belot (2008) - F yes - - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), dehydration (HP:0001944), recurrent respiratory symptoms (HP:0002205) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226173 - PubMed: Turan (2018) - M yes Turkey - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 2 Susan Tzotzos
00226174 - PubMed: Turan (2018) - ? yes Turkey - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 2 Susan Tzotzos
00226175 - PubMed: Huppmann (2011) - M yes Tunisia - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002513), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), diarrhea (HP:0002014), recurrent respiratory infections (HP:0002205) SCNN1A SCNN1A 1 1 Susan Tzotzos
00226176 - PubMed: Turan (2018) - ? yes Turkey - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226180 - PubMed: Riepe (2009) - F yes Somalia - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), renal salt wasting (HP:0000127) SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00226183 - PubMed: Nur (2017) - F - Pakistan - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), elevated sweat chloride (HP:0012236), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), tachycardia (HP:0001649), recurrent respiratory infections (HP:0002205) SCNN1A SCNN1A 1 2 Susan Tzotzos
00226184 - PubMed: Nur (2017) - F - Pakistan - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942) SCNN1A SCNN1A 1 2 Susan Tzotzos
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) SCNN1A, SCNN1B, SCNN1G SCNN1B 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) SCNN1A, SCNN1B, SCNN1G SCNN1B 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) SCNN1A, SCNN1B, SCNN1G SCNN1B 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) SCNN1A, SCNN1B, SCNN1G SCNN1B 2 1 Susan Tzotzos
00226276 - PubMed: Dogan (2012) - M no Turkey - - - - - PHA1B - SCNN1A, SCNN1B, SCNN1G SCNN1B 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. SCNN1A, SCNN1B, SCNN1G SCNN1B 2 1 Susan Tzotzos
00226278 - PubMed: Saxena (2002) - M yes Scotland - - - - - PHA1B - SCNN1A, SCNN1B, SCNN1G SCNN1B 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. SCNN1A, SCNN1B, SCNN1G SCNN1B 1 1 Susan Tzotzos
00226300 - PubMed: Turan (2018) - ? yes Turkey - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) SCNN1A, SCNN1B, SCNN1G SCNN1G 1 1 Susan Tzotzos
00226302 - PubMed: Belot (2008) - F yes - - - - - - PHA1B Hyperkalemia (HP:0002153), hyponatremia (HP:0002902), elevated sweat chloride (HP:0012236), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841) SCNN1A, SCNN1B, SCNN1G SCNN1G 1 1 Susan Tzotzos
00226303 - PubMed: Adachi (2001) - M no Japan - - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841), recurrent respiratory infections (HP:0002205) SCNN1A, SCNN1B, SCNN1G SCNN1G 2 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). SCNN1A, SCNN1B SCNN1B 2 1 Susan Tzotzos
00235346 - PubMed: Cayir (2019) - F yes Turkey - - - - - PHA1B Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), tachypnea (HP:0002789), hyperaldosteronism (HP:0000859). SCNN1A, SCNN1B SCNN1A 1 1 Susan Tzotzos
00235347 - PubMed: Cayir (2019) - F yes Turkey - 00y02m - - - PHA1B Vomiting (HP:0002013), poor feeding (HP:0008872), weight loss (HP:0001824), lethargy (HP:0001254), cardiac arrhythmia (HP:0011675), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperaldosteronism (HP:000859). SCNN1A, SCNN1B SCNN1A 1 1 Susan Tzotzos
00263408 - PubMed: Gopal-Kothandapani (2019) - M yes United Kingdom (Great Britain) Asian Pakistani - - - - PHA1B Hyponatremia (HP:0002902), hyperkalemia (HP:0002153), elevated sweat chloride (HP:0012236), skin rash (HP:0001047), hyperaldosteronism (HP:0000859), recurrent pharyngitis (HP:0100776) NR3C2, SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00305949 49 - - M - China - - - - - PHA1B - SCNN1G SCNN1G 2 1 Sha Hong
00306136 71 - - F - China - - - - - PHA1B - SCNN1A SCNN1A 2 1 Sha Hong
00306137 72 - - M - China - - - - - PHA1B - SCNN1A SCNN1A 1 1 Sha Hong
00329118 - PubMed: Gopal-Kothandapani 2019 - M yes United Kingdom (Great Britain) Asian Pakistani 00y01m - - - PHA1B HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0002902, HP:0002153, HP:0001942, HP:0002205, HP:0000859 NR3C2, SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00329119 - PubMed: Gopal-Kothandapani 2019 - F yes United Kingdom (Great Britain) Asian Pakistani - - - - PHA1B HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0002902, HP:0002153, HP:0001942, HP:0002205, HP:0000859 NR3C2, SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00329151 - PubMed: Yin, 2019 - M - China - - - - - PHA1B Nephropathy, HP:0000112 SCNN1A, SCNN1B, SCNN1G SCNN1G 1 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 CYP21A2, SCNN1A, SCNN1B, SCNN1G SCNN1B 1 1 Susan Tzotzos
00333450 - PubMed: Gopal-Kothandapani, 2019 - M yes United Kingdom (Great Britain) White white 02y03m - - - PHA1B HP:0002902, HP:0002153, HP:0001942, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0031274, HP:0012236, HP:0000859, HP:0001695 NR3C2, SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00333487 - PubMed: Gopal-Kothandapani, 2019 - M yes United Kingdom (Great Britain) Asian Pakistani - - - - PHA1B HP:0002902, HP:0002153, HP:0001942, HP:0002013; HP:0001824, HP:0008872, HP:0001944, HP:0001695, HP:0000859, HP:0000841 NR3C2, SCNN1A, SCNN1B, SCNN1G SCNN1A 1 1 Susan Tzotzos
00333488 - PubMed: Gopal-Kothandapani, 2019 - M yes United Kingdom (Great Britain) Asian Pakistani - - - - PHA1B HP:0002902, HP0002153, HP:0001942, HP:0002205, HP:0002013, HP:0001824, HP:0008872, HP:0001944, HP:0000859 NR3C2, SCNN1A, SCNN1B, SCNN1G SCNN1A 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 NR3C2, SCNN1A, SCNN1B, SCNN1G SCNN1B 1 1 Susan Tzotzos
00371680 - PubMed: Huneif, 2021 - F yes Saudi Arabia - - - - - PHA1B Dehydration, HP:0001944; elevated sweat chloride, HP:0012236; feeding difficulties, HP:0008872; raised plasma renin activity, HP:0000841; hyperaldosteronism, HP:0000859; hyperkalemia, HP:0002153; hyponatremia, HP:0002902; metabolic acidosis, HP:0001942; recurrent respiratory infections, HP:0002205; lethargy, HP:0001254; renal salt wasting, HP:0000127; vomiting, HP:0002013; skin rash, HP:0001047 SCNN1A SCNN1A 1 1 Susan Tzotzos
00377140 - PubMed: Serra G, 2021 - M yes Italy - - - - - PHA1B HP:0000952, HP:0008872, HP:0001254, HP:0001649, HP:0002902, HP:0003113, HP:0002153, HP:0001942, HP:0001944, HP:0000859, HP:0012605, HP:0001047 SCNN1A, SCNN1B, SCNN1G SCNN1A 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 SCNN1A, SCNN1B, SCNN1G SCNN1B 1 1 Susan Tzotzos
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.