ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

Question 1

What is  ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1?

Accepted Answer

very rare
autosomal recessive
Individuals with an Antley-Bixler Syndrome (ABS)-like phenotype ... and ambiguous genitalia and disordered steroidogenesis should be recognized as having a distinct new disease: POR deficiency [Huang N et al. 2005]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Antley-Bixler-Syndrom Typ 2; Antley-Bixler ähnliches-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 201750

Question 4

Which enzymes are involved?

Accepted Answer

NADPH--cytochrome P450 reductase

Disease	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1
Synonym	PORD; P450 OXIREDUCTASE DEFICIENCY
OMIM	201750 OMIM = Online Mendelian Inheritance of Men
Orphanet	63269
Protein (UniProt)	NADPH--cytochrome P450 reductase
ExPASy	1.6.2.4
Gene locus	7q11.23
ICD	---
Summary	very rare autosomal recessive Individuals with an Antley-Bixler Syndrome (ABS)-like phenotype ... and ambiguous genitalia and disordered steroidogenesis should be recognized as having a distinct new disease: POR deficiency [Huang N et al. 2005]
Laboratory findings	17-Hydoxypregnenolone [+] normal/inc (plasma) 17-Hydroxyprogesterone normal/inc (plasma) Adrenal androgens (DHEAS, androstenedione) normal/dec (plasma) Adrenocorticotropic hormone (ACTH) normal/inc (plasma) Androstenedione (plasma) Pregnanediol inc (urine)
Symptoms	adrenal insufficiency arachnodyctyly clitoral hypertrophy craniostenosis cryptorchism genitalia, ambigous hydronephrosis hypertelorism hypospadia microcephaly (<2 SD for age) micropenis oligohydramnion (maternal) onset, childhood onset, infancy onset, neonatal polycystic ovaries scoliosis skeletal changes, skeletal abnormalities small mid-face (malar or maxillary hypoplasia) virilisation