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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

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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)
..Starting node ..Heinz Body Anemias (C563030)
Child Nodes:
Sister Nodes:
..Anemia, Dyserythropoietic, Congenital (D000742) 5
..Anemia, Hemolytic, Congenital Nonspherocytic (D000746) 5
..Anemia, hereditary spherocytic hemolytic (C536356)
..Anemia, Sickle Cell (D000755) 3
..Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..Elliptocytosis, Hereditary (D004612) 11
..Glucosephosphate Dehydrogenase Deficiency (D005955) 3
..Heinz Body Anemias (C563030)
..Hemoglobin C Disease (D006445) 1
..Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa (C562629)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..Red cell phospholipid defect with hemolysis (C535298)
..Rh-Null Disease, Amorph Type (C566210)
..Spherocytosis, Hereditary (D013103) 5
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Thalassemia (D013789) 16
..Transient erythroblastopenia of childhood (C536980)
..Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to (C564859)
..Xerocytosis, hereditary (C536764)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4968

Name:

Heinz Body Anemias

Definition:

Alternative IDs:

OMIM:140700

ParentIDs:

MESH:D000745

TreeNumbers:

C15.378.071.141.150/C563030 |C16.320.070/C563030

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C563030
MeSH: C563030
OMIM: 140700;

Genes: HBA1; HBA2; HBB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0005511	Heinz body anemia
4	HP:0001930	Nonspherocytic hemolytic anemia

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_000517.4(HBA2):c.410T>C (p.Leu137Pro)	-1	-	Pathogenic	41469945	RCV000203221;	N	MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330	16	223580	223580	NM_000517.4:c.410T>C	NP_000508.1:p.Leu137Pro	NC_000016.9:g.223580T>C	HBVAR:204,OMIM Allelic Variant:141800.0011,OMIM Allelic Variant:141850.0030	C0700299 140700 Heinz body anemia
NM_000558.4(HBA1):c.410T>G (p.Leu137Arg)	3039	HBA1	Pathogenic;other	34635364	RCV000017171; RCV000017172;	N	; MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330	16	227391	227391	NM_000558.4:c.410T>G	NP_000549.1:p.Leu137Arg	NC_000016.9:g.227391T>G	OMIM Allelic Variant:141800.0152	C0700299 140700 Heinz body anemia
NM_000518.4(HBB):c.337T>C (p.Cys113Arg)	3043	HBB	Pathogenic;other	35849199	RCV000016392; RCV000016393;	N	; MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330	11	5246935	5246935	NM_000518.4:c.337T>C	NP_000509.1:p.Cys113Arg	NC_000011.9:g.5246935A>G	OMIM Allelic Variant:141900.0117	C0700299 140700 Heinz body anemia
NM_000518.4(HBB):c.295G>A (p.Val99Met)	3043	HBB	Pathogenic;other	33933298	RCV000016446; RCV000016443; RCV000016807;	N	; MedGen:C0019045,ORPHA:68364,SNOMED CT:80141007; MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330	11	5247827	5247827	NM_000518.4:c.295G>A	NP_000509.1:p.Val99Met	NC_000011.9:g.5247827C>T	HBVAR:448,OMIM Allelic Variant:141900.0151,OMIM Allelic Variant:141900.0452	C0700299 140700 Heinz body anemia; C0019045 Hemoglobinopathy
NM_000518.4(HBB):c.295G>A (p.Val99Met)	3043	HBB	Pathogenic;other	33933298	RCV000016446; RCV000016443; RCV000016807;	N	; MedGen:C0019045,ORPHA:68364,SNOMED CT:80141007; MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330	11	5247827	5247827	NM_000518.4:c.295G>A	NP_000509.1:p.Val99Met	NC_000011.9:g.5247827C>T	HBVAR:448,OMIM Allelic Variant:141900.0151,OMIM Allelic Variant:141900.0452	C0700299 140700 Heinz body anemia; C0019045 Hemoglobinopathy
NM_000518.4(HBB):c.127_129delTTT (p.Phe43del)	3043	HBB	Pathogenic	41417446	RCV000016278; RCV000016277;	N	MedGen:C0019045,ORPHA:68364,SNOMED CT:80141007; MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330	11	5247993	5247995	NM_000518.4:c.127_129delTTT	NP_000509.1:p.Phe43del	NC_000011.9:g.5247993_5247995delAAA	HBVAR:724,OMIM Allelic Variant:141900.0033	C0700299 140700 Heinz body anemia; C0019045 Hemoglobinopathy
NM_000518.4(HBB):c.128T>C (p.Phe43Ser)	3043	HBB	Pathogenic;other	34378160	RCV000016371; RCV000016372; RCV000016373;	N	; MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330	11	5247994	5247994	NM_000518.4:c.128T>C	NP_000509.1:p.Phe43Ser	NC_000011.9:g.5247994A>G	OMIM Allelic Variant:141900.0100	C0700299 140700 Heinz body anemia
NM_000518.4(HBB):c.93G>T (p.Arg31Ser)	3043	HBB	Benign;Pathogenic	1135071	RCV000016620; RCV000016619;	N	MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330; MedGen:CN169374	11	5248029	5248029	NM_000518.4:c.93G>T	NP_000509.1:p.Arg31Ser	NC_000011.9:g.5248029C>A	HBVAR:289,OMIM Allelic Variant:141900.0278	C0700299 140700 Heinz body anemia; CN169374 not specified
NM_000518.4(HBB):c.86T>A (p.Leu29Gln)	3043	HBB	Pathogenic;other	33916412	RCV000016611; RCV000016612;	N	; MedGen:C0700299,OMIM:140700, Orphanet:ORPHA178330	11	5248166	5248166	NM_000518.4:c.86T>A	NP_000509.1:p.Leu29Gln	NC_000011.9:g.5248166A>C,NC_000011.9:g.5248166A>G,NC_000011.9:g.5248166A>T	HBVAR:284,OMIM Allelic Variant:141900.0268	C0700299 140700 Heinz body anemia