Disease #02144

Official abbreviation AHC
Name adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism)
OMIM ID 300200
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 135
Phenotype entries for this disease 124
Associated with 1 gene NR0B1
Associated tissues -
Disease features -
Remarks -


Individuals

135 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

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Consanguinity     

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Data_av     

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Disease     

Phenotype details     

Genes screened

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Variants     

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Owner     
00029662 - PubMed: Carrie 1999 - M - - - - 0 - - AHC, MRT - IL1RAPL1, NR0B1 IL1RAPL1, NR0B1 2 1 Johan den Dunnen
00029663 - PubMed: Carrie 1999 - M - ? (unknown) - - 0 - - AHC, GKD, ID - GK, IL1RAPL1, NR0B1 GK, IL1RAPL1, NR0B1 3 1 Johan den Dunnen
00029664 - PubMed: Carrie 1999 - M - ? (unknown) - - 0 - - AHC, ID - IL1RAPL1, NR0B1 IL1RAPL1, NR0B1 2 1 Johan den Dunnen
00029665 - PubMed: Carrie 1999 - M - ? (unknown) - - 0 - - AHC, ID - IL1RAPL1, NR0B1 IL1RAPL1, NR0B1 2 1 Johan den Dunnen
00034400 - PubMed: Hellerud 2003 - M - Poland - - 0 - - AHC, GKD - DMD DMD 1 1 Johan den Dunnen
00034401 - PubMed: Hellerud 2003 - M - Poland - - 0 - - AHC, GKD - DMD DMD 1 1 Johan den Dunnen
00034402 - PubMed: McCabe 1989 - M - United States - - 0 - - AHC, GKD dystrophic myopathy DMD DMD 1 1 Johan den Dunnen
00034404 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034405 - PubMed: Zhang 2004 - M - - - - 0 - - AHC, DMD, GKD, MRX;IDX intellectual disability (HP:0001249) DMD, GK, IL1RAPL1, NR0B1 DMD 1 1 Johan den Dunnen
00034406 - PubMed: Zhang 2004 - M - - - - 0 - - AHC, GKD, MRX;IDX intellectual disability (HP:0001249) DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034407 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034408 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034411 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - ARX, DMD, GK, IL1RAPL1, NR0B1 ARX, DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034412 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034413 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034414 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034415 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034418 - PubMed: Piko 2009 - ? - Hungary - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034422 - PubMed: Chelly 1988, UMD 727 database mother carrier M - (France) - 22y 0 - - AHC, GKD, MRX;IDX poor psychomotor development, IQ45; 9m-biopsy numerous necrotic muscle fibers, foci regenerating fibers, discrete type 1 fiber predominance, marked increase collagen endomysial tissue DMD DMD 1 2 Johan den Dunnen
00049063 - L Medne ASHG 2010 A1669 - M - - - - 0 - - AHC, GKD , hyponatremia, adrenal insufficiency, hyperCKemia; phenotype/onset: seizures; elevated serum CPK (HP:0003236) DMD DMD 1 1 Johan den Dunnen
00112403 - PubMed: Guo 1995 - - - - - - 0 - - AHC phenotype inlcudes GKD; adrenal hypoplasia, congenital (OMIM300200);Glycerol kinase deficiency NR0B1 GK, NR0B1 1 1 Bert Bakker
00112404 - PubMed: Guo 1995 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112405 09195207-Pat3 PubMed: Kinoshita 1997 - M - Japan - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112406 - PubMed: Ozisik 2003 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112408 - PubMed: Binder 2000 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112409 - PubMed: Meloni 1996 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112410 - - - M - Netherlands - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112411 - PubMed: Hamaguchi 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112412 - PubMed: Nakae 1997; OMIM:var0015 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112413 - PubMed: Zhang 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112414 - PubMed: Nakae 1996; OMIM:var0011 2 sibs M - Japan - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112415 - PubMed: Muscatelli 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112416 - PubMed: Muscatelli 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112417 - PubMed: Phelan 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112418 - PubMed: Zhang 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112419 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112420 09195207-Fam1Pat1 PubMed: Kinoshita 1997 3-generation fmily, 6 affecteds (6M), 2 unaffected heterozygous carrier females M - Japan - - 0 - - AHC - NR0B1 NR0B1 2 6 Bert Bakker
00112421 - PubMed: Peter 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112422 - PubMed: Domenice 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112423 - - - M - Netherlands - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112424 - PubMed: Reutens 1999 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112425 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112426 - PubMed: Binder 2000 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112427 - PubMed: Phelan 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112428 - PubMed: Zhang 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112429 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112430 - PubMed: Peter 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112431 - PubMed: Binder 2000 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112433 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112434 - PubMed: Reutens 1999 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112435 - PubMed: Zhang 1998 - M - United States - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112436 - PubMed: Yanase 1996; OMIM:var0006 - M - Korea - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112437 - PubMed: Muscatelli 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112438 - PubMed: Zhang 1998 - M - Japan - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112439 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112440 - PubMed: Zanaria 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112441 - PubMed: Peter 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112442 - PubMed: Bassett 1999 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112443 - PubMed: Muscatelli 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112444 - PubMed: Muscatelli 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112445 - - - M - Netherlands - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112446 - PubMed: Peter 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112447 - PubMed: Caron 1999 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112448 09195207-Pat4 PubMed: Kinoshita 1997 - M - Japan - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112449 - PubMed: Zhang 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112450 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112451 - PubMed: Reutens 1999 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112452 - PubMed: Muscatelli 1994; OMIM:var0005 - M - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112453 - PubMed: Zanaria 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112454 - PubMed: Zhang 1998 - M - United States - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112455 - - - M - Netherlands - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112456 - - - M - Netherlands - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112457 - PubMed: Zanaria 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112458 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112459 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112460 - PubMed: Phelan 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112461 - PubMed: Achermann 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112462 - PubMed: Muscatelli 1994; OMIM:var0003 - - - - - - 0 - - AHC onset 8d NR0B1 NR0B1 1 1 Bert Bakker
00112463 - PubMed: Muscatelli 1994; OMIM:var0004 2 brothers - - - - - 0 - - AHC - NR0B1 NR0B1 1 2 Bert Bakker
00112464 - PubMed: Muscatelli 1994 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112465 - PubMed: Zhang 1998 - M - United States - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112466 - PubMed: Nakae 1996; OMIM:var0010 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112467 - PubMed: Bassett 1999 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112468 - PubMed: Yanase 1996; OMIM:var0007 - M - Japan - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112469 - PubMed: Muscatelli 1994; OMIM:var0001 - M - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112470 - PubMed: Franzese 2005 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112471 - PubMed: Nakae 1997; OMIM:var0017 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112472 - PubMed: Zhang 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112473 - PubMed: Brown 2003 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112474 - PubMed: Achermann 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112475 - PubMed: Takahashi 1997 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112476 - PubMed: Zhang 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112477 - PubMed: Nakae 1996; OMIM:var0013 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112478 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112479 - PubMed: Habiby 1996 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112480 09195207-Fam2Pat2 PubMed: Kinoshita 1997 3-generation family, 1 affected M - Japan - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112481 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112482 - PubMed: Muscatelli 1994; OMIM:var0002 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112483 - PubMed: Zhang 1998 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
00112484 - PubMed: Zhang 2001 - - - - - - 0 - - AHC - NR0B1 NR0B1 1 1 Bert Bakker
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