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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: Anemia, Hemolytic, Congenital (D000745)
Parent Node: Hemoglobinopathies (D006453)
..Starting node ..Anemia, Sickle Cell (D000755)
Child Nodes:
........Acute Chest Syndrome (D056586)
........Hemoglobin SC Disease (D006450)
........Sickle Cell Trait (D012805)
Sister Nodes:
..Anemia, Sickle Cell (D000755) 3
..Hemoglobin C Disease (D006445) 1
..Thalassemia (D013789) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

647

Name:

Anemia, Sickle Cell

Definition:

A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.

Alternative IDs:

OMIM:603903

ParentIDs:

MESH:D000745|MESH:D006453

TreeNumbers:

C15.378.071.141.150.150 |C15.378.420.155 |C16.320.070.150 |C16.320.365.155

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: D000755
MeSH: D000755
OMIM: 603903;

Genes: HBB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002027	Abdominal pain
3	HP:0001640	Cardiomegaly
4	HP:0001081	Cholelithiasis
5	HP:0000790	Hematuria
6	HP:0001878	Hemolytic anemia
7	HP:0002240	Hepatomegaly
8	HP:0012418	Hypoxemia
9	HP:0008346	Increased red cell sickling tendency
10	HP:0000952	Jaundice
11	HP:0001974	Leukocytosis
12	HP:0200023	Priapism
13	HP:0002718	Recurrent bacterial infections
14	HP:0000083	Renal insufficiency
15	HP:0000488	Retinopathy
16	HP:0001744	Splenomegaly
17	HP:0001297	Stroke

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_000518.4(HBB):c.364G>C (p.Glu122Gln)	3043	HBB	Pathogenic;other	33946267	RCV000016317; RCV000202465; RCV000029994; RCV000016617; RCV000016758; RCV000016858;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0005283,OMIM:613985,ORPHA:848,SNOMED CT:65959000	11	5246908	5246908	NM_000518.4:c.364G>C	NP_000509.1:p.Glu122Gln	NC_000011.9:g.5246908C>A,NC_000011.9:g.5246908C>G,NC_000011.9:g.5246908C>T	HBVAR:509,OMIM Allelic Variant:141900.0065,OMIM Allelic Variant:141900.0276,OMIM Allelic Variant:141900.0407,OMIM Allelic Variant:141900.0502	C0005283 613985 beta Thalassemia; C0002895 603903 Hb SS disease
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	3043	HBB	Pathogenic;other	33946267	RCV000016317; RCV000202465; RCV000029994; RCV000016617; RCV000016758; RCV000016858;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0005283,OMIM:613985,ORPHA:848,SNOMED CT:65959000	11	5246908	5246908	NM_000518.4:c.364G>C	NP_000509.1:p.Glu122Gln	NC_000011.9:g.5246908C>A,NC_000011.9:g.5246908C>G,NC_000011.9:g.5246908C>T	HBVAR:509,OMIM Allelic Variant:141900.0065,OMIM Allelic Variant:141900.0276,OMIM Allelic Variant:141900.0407,OMIM Allelic Variant:141900.0502	C0005283 613985 beta Thalassemia; C3841475 Beta-plus-thalassemia; C0002895 603903 Hb SS disease; C0019024 Hemoglobin E; C0472777 Hemoglobin E/beta thalassemia disease; C2720293 Malaria, resistance to
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	3043	HBB	Pathogenic;other	33946267	RCV000016317; RCV000202465; RCV000029994; RCV000016617; RCV000016758; RCV000016858;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0005283,OMIM:613985,ORPHA:848,SNOMED CT:65959000	11	5246908	5246908	NM_000518.4:c.364G>C	NP_000509.1:p.Glu122Gln	NC_000011.9:g.5246908C>A,NC_000011.9:g.5246908C>G,NC_000011.9:g.5246908C>T	HBVAR:509,OMIM Allelic Variant:141900.0065,OMIM Allelic Variant:141900.0276,OMIM Allelic Variant:141900.0407,OMIM Allelic Variant:141900.0502	C0005283 613985 beta Thalassemia; C0002895 603903 Hb SS disease
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	3043	HBB	Pathogenic;other	33946267	RCV000016317; RCV000202465; RCV000029994; RCV000016617; RCV000016758; RCV000016858;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0005283,OMIM:613985,ORPHA:848,SNOMED CT:65959000	11	5246908	5246908	NM_000518.4:c.364G>C	NP_000509.1:p.Glu122Gln	NC_000011.9:g.5246908C>A,NC_000011.9:g.5246908C>G,NC_000011.9:g.5246908C>T	HBVAR:509,OMIM Allelic Variant:141900.0065,OMIM Allelic Variant:141900.0276,OMIM Allelic Variant:141900.0407,OMIM Allelic Variant:141900.0502	C0005283 613985 beta Thalassemia; C0002895 603903 Hb SS disease
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	3043	HBB	Pathogenic;other	33946267	RCV000016524; RCV000016525; RCV000202511; RCV000029993; RCV000016577; RCV000016863;	N	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0005283,OMIM:613985,ORPHA:848,SNOMED CT:65959000; MedGen:C1264000,SNOMED CT:127048005	11	5246908	5246908	NM_000518.4:c.364G>A	NP_000509.1:p.Glu122Lys	NC_000011.9:g.5246908C>A,NC_000011.9:g.5246908C>G,NC_000011.9:g.5246908C>T	HBVAR:510,OMIM Allelic Variant:141900.0202,OMIM Allelic Variant:141900.0245,OMIM Allelic Variant:141900.0507	C0005283 613985 beta Thalassemia; C0002895 603903 Hb SS disease; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	3043	HBB	Pathogenic;other	33946267	RCV000016524; RCV000016525; RCV000202511; RCV000029993; RCV000016577; RCV000016863;	N	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0005283,OMIM:613985,ORPHA:848,SNOMED CT:65959000; MedGen:C1264000,SNOMED CT:127048005	11	5246908	5246908	NM_000518.4:c.364G>A	NP_000509.1:p.Glu122Lys	NC_000011.9:g.5246908C>A,NC_000011.9:g.5246908C>G,NC_000011.9:g.5246908C>T	HBVAR:510,OMIM Allelic Variant:141900.0202,OMIM Allelic Variant:141900.0245,OMIM Allelic Variant:141900.0507	C0005283 613985 beta Thalassemia; C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	3043	HBB	Pathogenic;other	33946267	RCV000016524; RCV000016525; RCV000202511; RCV000029993; RCV000016577; RCV000016863;	N	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0005283,OMIM:613985,ORPHA:848,SNOMED CT:65959000; MedGen:C1264000,SNOMED CT:127048005	11	5246908	5246908	NM_000518.4:c.364G>A	NP_000509.1:p.Glu122Lys	NC_000011.9:g.5246908C>A,NC_000011.9:g.5246908C>G,NC_000011.9:g.5246908C>T	HBVAR:510,OMIM Allelic Variant:141900.0202,OMIM Allelic Variant:141900.0245,OMIM Allelic Variant:141900.0507	C0005283 613985 beta Thalassemia; C0002895 603903 Hb SS disease; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.79G>A (p.Glu27Lys)	3043	HBB	Pathogenic;other;protective	33950507	RCV000016332; RCV000016330; RCV000016329; RCV000016331; RCV000202534; RCV000016617;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019024,SNOMED CT:83815000; MedGen:C0472777, Orphanet:ORPHA231249,SNOMED CT: 234392002; MedGen:C2720293; MedGen:C3841475	11	5248173	5248173	NM_000518.4:c.79G>A	NP_000509.1:p.Glu27Lys	NC_000011.9:g.5248173C>T	OMIM Allelic Variant:141900.0071,OMIM Allelic Variant:141900.0276	C3841475 Beta-plus-thalassemia; C0002895 603903 Hb SS disease; C0019024 Hemoglobin E; C0472777 Hemoglobin E/beta thalassemia disease; C2720293 Malaria, resistance to
NM_000518.4(HBB):c.79G>A (p.Glu27Lys)	3043	HBB	Pathogenic;other;protective	33950507	RCV000016332; RCV000016330; RCV000016329; RCV000016331; RCV000202534; RCV000016617;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019024,SNOMED CT:83815000; MedGen:C0472777, Orphanet:ORPHA231249,SNOMED CT: 234392002; MedGen:C2720293; MedGen:C3841475	11	5248173	5248173	NM_000518.4:c.79G>A	NP_000509.1:p.Glu27Lys	NC_000011.9:g.5248173C>T	OMIM Allelic Variant:141900.0071,OMIM Allelic Variant:141900.0276	C0005283 613985 beta Thalassemia; C3841475 Beta-plus-thalassemia; C0002895 603903 Hb SS disease; C0019024 Hemoglobin E; C0472777 Hemoglobin E/beta thalassemia disease; C2720293 Malaria, resistance to
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0002895 603903 Hb SS disease; C0019045 Hemoglobinopathy; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0005283 613985 beta Thalassemia; C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.20A>T (p.Glu7Val)	3043	HBB	Pathogenic;other;protective	334	RCV000016286; RCV000030905; RCV000016575; RCV000016573; RCV000016574; RCV000016576; RCV000016577; RCV000016579; RCV000016580; RCV000016877; RCV000016879;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C0019043; MedGen:C1264000,SNOMED CT:127048005; MedGen:C2720293	11	5248232	5248232	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val	NC_000011.9:g.5248232T>A,NC_000011.9:g.5248232T>G	OMIM Allelic Variant:141900.0039,OMIM Allelic Variant:141900.0040,OMIM Allelic Variant:141900.0243,OMIM Allelic Variant:141900.0244,OMIM Allelic Variant:	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to; C1264000 Sickle cell-Hemoglobin O Arab disease
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	3043	HBB	Pathogenic;other;protective	33930165	RCV000016251; RCV000016285; RCV000016284; RCV000202507;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C2720293	11	5248233	5248233	NM_000518.4:c.19G>A	NP_000509.1:p.Glu7Lys	NC_000011.9:g.5248233C>G,NC_000011.9:g.5248233C>T	HBVAR:227,OMIM Allelic Variant:141900.0010,OMIM Allelic Variant:141900.0038	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	3043	HBB	Pathogenic;other;protective	33930165	RCV000016251; RCV000016285; RCV000016284; RCV000202507;	Y	; MedGen:C0002895,OMIM:603903,ORPHA:232,SNOMED CT:127040003; MedGen:C2720293	11	5248233	5248233	NM_000518.4:c.19G>A	NP_000509.1:p.Glu7Lys	NC_000011.9:g.5248233C>G,NC_000011.9:g.5248233C>T	HBVAR:227,OMIM Allelic Variant:141900.0010,OMIM Allelic Variant:141900.0038	C0002895 603903 Hb SS disease; C2720293 Malaria, resistance to