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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Antley-Bixler Syndrome Phenotype (D054882)
Parent Node: Urogenital Abnormalities (D014564)
..Starting node ..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Child Nodes:
Sister Nodes:
..Allanson Pantzar McLeod syndrome (C537048) 1
..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bladder Exstrophy (D001746) 1
..Calabro syndrome (C537960)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cryptorchidism (D003456) 12
..Disorders of Sex Development (D012734) 107
..DK Phocomelia Syndrome (C565618)
..Duker Weiss Siber syndrome (C535719)
..Epispadias (D004842) 1
..Genitopatellar Syndrome (C565255)
..Genitourinary Tract Anomalies (C564424)
..Hand foot uterus syndrome (C535627)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..Hypospadias (D007021) 17
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Lissencephaly, X-Linked, 2 (C564563)
..Microcephaly seizures genital hypoplasia (C537540)
..Microphthalmia, Syndromic 6 (C566440)
..Multicystic Dysplastic Kidney (D021782) 2
..Myotubular Myopathy with Abnormal Genital Development (C564561)
..Nephritis, Hereditary (D009394) 11
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Omphalocele exstrophy imperforate anus (C537748)
..Piepkorn Karp Hickok syndrome (C535774)
..Popliteal Pterygium Syndrome (C562509)
..Proud Syndrome (C563110)
..Pyelectasis (D058536)
..Renal Adysplasia (C563261)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal, Genital, and Middle Ear Anomalies (C564849)
..Retrocaval Ureter (D064749)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rosselli-Gulienetti Syndrome (C563117)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Ureter, Bifid Or Double (C566012)
..Urinary Fistula (D014548) 2
..Uterine Anomalies (C562565)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

767

Name:

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS

Definition:

Alternative IDs:

ParentIDs:

MESH:D014564|MESH:D054882

TreeNumbers:

C05.116.099.370.894.115/201750 |C05.660.906.181/201750 |C12.706/201750 |C13.351.875/201750 |C16.131.621.906.181/201750 |C16.131.939/201750 |C16.320.565.925.324/201750 |C18.452.648.925.324/201750

Synonyms:

ABS1

Slim Mappings:

Reference:

MedGen: 201750
MeSH: 201750
OMIM: 201750;

Genes: POR;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001438	Abnormal abdomen morphology
3	HP:0001194	Abnormalities of placenta or umbilical cord
4	HP:0001939	Abnormality of metabolism/homeostasis
5	HP:0000818	Abnormality of the endocrine system
6	HP:0000377	Abnormality of the pinna
7	HP:0000062	Ambiguous genitalia	HP:0040283
8	HP:0001166	Arachnodactyly
9	HP:0002308	Arnold-Chiari malformation
10	HP:0000048	Bifid scrotum
11	HP:0000248	Brachycephaly
12	HP:0002780	Bronchomalacia
13	HP:0012385	Camptodactyly
14	HP:0009702	Carpal synostosis
15	HP:0000453	Choanal atresia
16	HP:0000452	Choanal stenosis
17	HP:0000041	Chordee
18	HP:0008665	Clitoral hypertrophy
19	HP:0002676	Cloverleaf skull
20	HP:0000405	Conductive hearing impairment
21	HP:0001363	Craniosynostosis
22	HP:0000028	Cryptorchidism
23	HP:0005280	Depressed nasal bridge
24	HP:0002980	Femoral bowing
25	HP:0002007	Frontal bossing
26	HP:0002937	Hemivertebrae
27	HP:0000085	Horseshoe kidney
28	HP:0003041	Humeroradial synostosis
29	HP:0000316	Hypertelorism
30	HP:0000047	Hypospadias
31	HP:0009473	Joint contracture of the hand
32	HP:0000066	Labial hypoplasia
33	HP:0001601	Laryngomalacia
34	HP:0008073	Low maternal serum estriol
35	HP:0000272	Malar flattening
36	HP:0008072	Maternal virilization in pregnancy
37	HP:0000252	Microcephaly
38	HP:0000054	Micropenis
39	HP:0011800	Midface retrusion
40	HP:0001562	Oligohydramnios
41	HP:0000147	Polycystic ovaries
42	HP:0000520	Proptosis
43	HP:0002974	Radioulnar synostosis
44	HP:0001838	Rocker bottom foot
45	HP:0002650	Scoliosis
46	HP:0000046	Scrotal hypoplasia
47	HP:0001518	Small for gestational age
48	HP:0008368	Tarsal synostosis
49	HP:0003031	Ulnar bowing
50	HP:0001586	Vesicovaginal fistula

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000941.2(POR):c.15A>G (p.Gly5=)	5447	POR	Pathogenic	10262966	RCV000018413;	N	MedGen:C1860042,OMIM:201750	7	75583325	75583325	NM_000941.2:c.15A>G	NP_000932.3:p.Gly5=	NC_000007.13:g.75583325A>G	OMIM Allelic Variant:124015.0014	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
NM_000941.2(POR):c.568_580dupTACGTGGACAAGC (p.Arg194Leufs)	5447	POR	Pathogenic	786205878	RCV000018414;	N	MedGen:C1860042,OMIM:201750	7	75610417	75610429	NM_000941.2:c.568_580dupTACGTGGACAAGC	NP_000932.3:p.Arg194Leufs	NC_000007.13:g.75610417_75610429dupTACGTGGACAAGC	OMIM Allelic Variant:124015.0015	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
NM_000941.2(POR):c.731+1G>A	5447	POR	Pathogenic	786205099	RCV000018404;	N	MedGen:C1860042,OMIM:201750	7	75610925	75610925	NM_000941.2:c.731+1G>A		NC_000007.13:g.75610925G>A	OMIM Allelic Variant:124015.0006	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
NM_000941.2(POR):c.859G>C (p.Ala287Pro)	5447	POR	Pathogenic	121912974	RCV000018401; RCV000170457;	N	MedGen:C1860042,OMIM:201750; MedGen:C2673964,OMIM:613571	7	75612866	75612866	NM_000941.2:c.859G>C	NP_000932.3:p.Ala287Pro	NC_000007.13:g.75612866G>C	OMIM Allelic Variant:124015.0002,OMIM Allelic Variant:124015.0009	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
NM_000941.2(POR):c.1329dupC (p.Ile444Hisfs)	5447	POR	Pathogenic	786205875	RCV000018410;	N	MedGen:C1860042,OMIM:201750	7	75614456	75614456	NM_000941.2:c.1329dupC	NP_000932.3:p.Ile444Hisfs	NC_000007.13:g.75614456dupC	OMIM Allelic Variant:124015.0011	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
NM_000941.2(POR):c.1370G>A (p.Arg457His)	5447	POR	Pathogenic	28931608	RCV000018406; RCV000018407;	N	MedGen:C1860042,OMIM:201750; MedGen:C2673964,OMIM:613571	7	75614497	75614497	NM_000941.2:c.1370G>A	NP_000932.3:p.Arg457His	NC_000007.13:g.75614497G>A	OMIM Allelic Variant:124015.0005	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
NM_000941.2(POR):c.1475T>A (p.Val492Glu)	5447	POR	Pathogenic	28931606	RCV000018400;	N	MedGen:C1860042,OMIM:201750	7	75614973	75614973	NM_000941.2:c.1475T>A	NP_000932.3:p.Val492Glu	NC_000007.13:g.75614973T>A	OMIM Allelic Variant:124015.0001	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
NM_000941.2(POR):c.1615G>A (p.Gly539Arg)	5447	POR	Pathogenic	121912976	RCV000018415; RCV000018416;	N	MedGen:C1860042,OMIM:201750; MedGen:C2673964,OMIM:613571	7	75615113	75615113	NM_000941.2:c.1615G>A	NP_000932.3:p.Gly539Arg	NC_000007.13:g.75615113G>A	OMIM Allelic Variant:124015.0016	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; C2673964 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
NM_000941.2(POR):c.1733A>G (p.Tyr578Cys)	5447	POR	Pathogenic	121912975	RCV000018411;	N	MedGen:C1860042,OMIM:201750	7	75615304	75615304	NM_000941.2:c.1733A>G	NP_000932.3:p.Tyr578Cys	NC_000007.13:g.75615304A>G	OMIM Allelic Variant:124015.0012	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
NM_000941.2(POR):c.1835_1858del24 (p.Leu612_Trp620delinsArg)	5447	POR	Pathogenic	786205876	RCV000018412;	N	MedGen:C1860042,OMIM:201750	7	75615496	75615519	NM_000941.2:c.1835_1858del24	NP_000932.3:p.Leu612_Trp620delinsArg	NC_000007.13:g.75615496_75615519del24	OMIM Allelic Variant:124015.0013	C1860042 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis