Disease #01966 (HHF1 (hypoglycemia, hyperinsulinemic, familial, type 1(HHF-1)), OMIM:256450)

Official abbreviation HHF1
Name hypoglycemia, hyperinsulinemic, familial, type 1(HHF-1)
OMIM ID 256450
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 17
Phenotype entries for this disease 17
Associated with 1 gene ABCC8
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Disease features -
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Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00100348 - - - M - India - - 0 - Diazoxide HHF1 - UCP2 UCP2 1 1 Thomas Laver
00305888 1 - - F - China - - - - - HHF1 - ABCC8 ABCC8 1 1 Sha Hong
00305902 17 - - M - China - - - - - HHF1 - ABCC8 ABCC8 2 1 Sha Hong
00305903 18 - - F - China - - - - - HHF1 - ABCC8 ABCC8 2 1 Sha Hong
00306183 81 - - M - China - - - - - HHF1 - ABCC8 ABCC8 2 1 Sha Hong
00306196 94 - - M - China - - - - - HHF1 - ABCC8 ABCC8 2 1 Sha Hong
00320435 P2 in Saint-Martin et al - - F no Belgium - - - - - HHF1 Hyperinsulinemic hypoglycemia - unresponsive to diazoxide - focal form ABCC8, KCNJ11 ABCC8 2 1 Cécile Saint-Martin
00320436 P3 in Saint-Martin et al - - M no Belgium - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form ABCC8, KCMF1, KCNJ11 ABCC8 2 1 Cécile Saint-Martin
00320437 P4 in Saint-Martin et al - - M ? India - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, focal form ABCC8, KCNJ11 ABCC8 1 1 Cécile Saint-Martin
00320441 P5 in Saint-Martin et al - - F - France - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide ABCC8, KCNJ11 ABCC8, KCNJ11 2 1 Cécile Saint-Martin
00320444 P6 in Saint-Martin et al - - M yes Lebanon - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form ABCC8, GCK, HNF1A, HNF4A, KCNJ11 ABCC8 2 1 Cécile Saint-Martin
00320447 P7 in Saint-Martin et al - - M no - Mother from Lebanon, Father from Greece - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide ABCC8, GCK, KCNJ11 ABCC8 1 1 Cécile Saint-Martin
00320449 P8 in Saint-Martin et al - - F ? ? (unknown) - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form ABCC8, KCNJ11 ABCC8 1 1 Cécile Saint-Martin
00320450 P9 in Saint-Martin et al - - F ? France - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, focal form ABCC8, KCNJ11 ABCC8 1 1 Cécile Saint-Martin
00320452 P11 in Saint-Martin et al - - M ? France - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form ABCC8, KCNJ11 ABCC8 2 1 Cécile Saint-Martin
00320455 P18 in Saint-Martin et al - - M ? France - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form ABCC8, KCNJ11 ABCC8 2 1 Cécile Saint-Martin
00320458 P20 in Saint-Martin et al - - F ? Algeria - - - - - HHF1 Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, focal form ABCC8, KCNJ11 ABCC8 1 1 Cécile Saint-Martin
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