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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: 46, XY Disorders of Sex Development (D058490)
Parent Node: Hypospadias (D007021)
Parent Node: Steroid Metabolism, Inborn Errors (D043202)
..Starting node ..Pseudovaginal Perineoscrotal Hypospadias (C535830)
Child Nodes:
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..Adrenal Hyperplasia, Congenital (D000312) 12
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Bile acid synthesis defect, congenital, 1 (C535442)
..Bile acid synthesis defect, congenital, 2 (C535443)
..Bile Acid Synthesis Defect, Congenital, 3 (C566340)
..Cortisone reductase deficiency (C536447)
..Familial Glucocorticoid Deficiency 1 (C565974)
..Hypercholanemia, Familial (C564336)
..Ichthyosis, X-Linked (D016114) 2
..Lathosterolosis (C537880)
..Lyngstadaas syndrome (C537490)
..Mineralocorticoid Excess Syndrome, Apparent (D043204) 1
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Smith-Lemli-Opitz Syndrome (D019082) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9438

Name:

Pseudovaginal Perineoscrotal Hypospadias

Definition:

Alternative IDs:

OMIM:264600

ParentIDs:

MESH:D007021|MESH:D043202|MESH:D058490

TreeNumbers:

C12.294.494.400/C535830 |C12.706.316.096/C535830 |C12.706.516/C535830 |C13.351.875.253.096/C535830 |C13.351.875.466/C535830 |C16.131.939.316.096/C535830 |C16.131.939.516/C535830 |C16.320.565.925/C535830 |C18.452.648.925/C535830 |C19.391.119.096/C535830 |F03.800.39

Synonyms:

5-Alpha Reductase Deficiency |Familial Incomplete Male Pseudohermaphroditism, Type 2 |Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency |PPSH |Steroid 5-Alpha-Reductase Deficiency

Slim Mappings:

Reference:

MedGen: C535830
MeSH: C535830
OMIM: 264600;

Genes: SRD5A2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001595	Abnormal hair morphology
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0000818	Abnormality of the endocrine system
5	HP:0001608	Abnormality of the voice
6	HP:0000033	Ambiguous genitalia, male
7	HP:0000048	Bifid scrotum
8	HP:0000054	Micropenis
9	HP:0000051	Perineal hypospadias
10	HP:0003812	Phenotypic variability

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_000348.3(SRD5A2):c.753delA (p.Phe252Serfs)	6716	SRD5A2	Pathogenic	587776567	RCV000003507;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31751278	31751278	NM_000348.3:c.753delA	NP_000339.2:p.Phe252Serfs		OMIM Allelic Variant:607306.0008	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.736C>T (p.Arg246Trp)	6716	SRD5A2	Pathogenic	121434244	RCV000003501;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31751295	31751295	NM_000348.3:c.736C>T	NP_000339.2:p.Arg246Trp	NC_000002.11:g.31751295G>A	OMIM Allelic Variant:607306.0002	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.692A>G (p.His231Arg)	6716	SRD5A2	Pathogenic	121434251	RCV000003510;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31754383	31754383	NM_000348.3:c.692A>G	NP_000339.2:p.His231Arg	NC_000002.11:g.31754383T>C	OMIM Allelic Variant:607306.0011	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.682G>A (p.Ala228Thr)	6716	SRD5A2	Pathogenic	121434249	RCV000003508;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31754393	31754393	NM_000348.3:c.682G>A	NP_000339.2:p.Ala228Thr	NC_000002.11:g.31754393C>T	OMIM Allelic Variant:607306.0009	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.679C>T (p.Arg227Ter)	6716	SRD5A2	Pathogenic	121434248	RCV000003506;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31754396	31754396	NM_000348.3:c.679C>T	NP_000339.2:p.Arg227Ter	NC_000002.11:g.31754396G>A	OMIM Allelic Variant:607306.0007	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.635C>G (p.Pro212Arg)	6716	SRD5A2	Pathogenic	121434252	RCV000003512;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31754440	31754440	NM_000348.3:c.635C>G	NP_000339.2:p.Pro212Arg	NC_000002.11:g.31754440G>C	OMIM Allelic Variant:607306.0013	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.591G>T (p.Glu197Asp)	6716	SRD5A2	Pathogenic	121434253	RCV000003513;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31754484	31754484	NM_000348.3:c.591G>T	NP_000339.2:p.Glu197Asp	NC_000002.11:g.31754484C>A	OMIM Allelic Variant:607306.0014	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.586G>A (p.Gly196Ser)	6716	SRD5A2	Pathogenic	121434250	RCV000003509;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31754489	31754489	NM_000348.3:c.586G>A	NP_000339.2:p.Gly196Ser	NC_000002.11:g.31754489C>T	OMIM Allelic Variant:607306.0010	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.547G>A (p.Gly183Ser)	6716	SRD5A2	Pathogenic	121434247	RCV000003505;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31756441	31756441	NM_000348.3:c.547G>A	NP_000339.2:p.Gly183Ser	NC_000002.11:g.31756441C>T	OMIM Allelic Variant:607306.0006	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.468_470delAAT (p.Met157del)	6716	SRD5A2	Pathogenic	587776566	RCV000003502;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31756518	31756520	NM_000348.3:c.468_470delAAT	NP_000339.2:p.Met157del		OMIM Allelic Variant:607306.0003	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.344G>A (p.Gly115Asp)	6716	SRD5A2	Pathogenic	121434246	RCV000003504;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31758774	31758774	NM_000348.3:c.344G>A	NP_000339.2:p.Gly115Asp	NC_000002.11:g.31758774C>T	OMIM Allelic Variant:607306.0005	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
NM_000348.3(SRD5A2):c.164T>A (p.Leu55Gln)	6716	SRD5A2	Pathogenic	121434245	RCV000003503;	N	MedGen:C0268297,OMIM:264600,ORPHA:753,SNOMED CT:57514000	2	31805807	31805807	NM_000348.3:c.164T>A	NP_000339.2:p.Leu55Gln	NC_000002.11:g.31805807A>T	OMIM Allelic Variant:607306.0004	C0268297 264600 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency