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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: Spherocytosis, Hereditary (D013103)
..Starting node ..Spherocytosis, Type 4 (C567208)
Child Nodes:
Sister Nodes:
..Goldstein Hutt syndrome (C537282)
..Spherocytosis, Type 1 (C567159)
..Spherocytosis, Type 3 (C567489)
..Spherocytosis, Type 4 (C567208)
..Spherocytosis, Type 5 (C567202)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10447

Name:

Spherocytosis, Type 4

Definition:

Alternative IDs:

OMIM:612653

ParentIDs:

MESH:D013103

TreeNumbers:

C15.378.071.141.150.785/C567208 |C16.320.070.785/C567208

Synonyms:

HS4 |SPH4 |Spherocytosis, Hereditary, 4

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C567208
MeSH: C567208
OMIM: 612653;

Genes: SLC4A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001878	Hemolytic anemia
3	HP:0002904	Hyperbilirubinemia
4	HP:0005502	Increased red cell osmotic fragility
5	HP:0000952	Jaundice
6	HP:0001923	Reticulocytosis
7	HP:0004444	Spherocytosis
8	HP:0001744	Splenomegaly

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_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)	6521	SLC4A1	Pathogenic	28931585	RCV000019354;	N	MedGen:C2675212,OMIM:612653	17	42328574	42328574	NM_000342.3:c.2608C>T	NP_000333.1:p.Arg870Trp	NC_000017.10:g.42328574G>A	OMIM Allelic Variant:109270.0024	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala)	6521	SLC4A1	Pathogenic	121912750	RCV000019347;	N	MedGen:C2675212,OMIM:612653	17	42328673	42328673	NM_000342.3:c.2509A>G	NP_000333.1:p.Thr837Ala	NC_000017.10:g.42328673T>C	OMIM Allelic Variant:109270.0019	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs)	6521	SLC4A1	Pathogenic	387906566	RCV000019335;	N	MedGen:C2675212,OMIM:612653	17	42328803	42328804	NM_000342.3:c.2464_2465insCACCCAGATG	NP_000333.1:p.Val822Alafs	NC_000017.10:g.42328803_42328804insCATCTGGGTG	OMIM Allelic Variant:109270.0005	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp)	6521	SLC4A1	Pathogenic	121912741	RCV000019337;	N	MedGen:C2675212,OMIM:612653	17	42328956	42328956	NM_000342.3:c.2312G>A	NP_000333.1:p.Gly771Asp	NC_000017.10:g.42328956C>T	OMIM Allelic Variant:109270.0007	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)	6521	SLC4A1	Pathogenic	121912755	RCV000019358;	N	MedGen:C2675212,OMIM:612653	17	42330518	42330518	NM_000342.3:c.2279G>A	NP_000333.1:p.Arg760Gln	NC_000017.10:g.42330518C>T	OMIM Allelic Variant:109270.0028	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	6521	SLC4A1	Pathogenic	28931584	RCV000019351; RCV000019350;	N	MedGen:C1969038,OMIM:611590,ORPHA:93610; MedGen:C2675212,OMIM:612653	17	42334882	42334882	NM_000342.3:c.1462G>A	NP_000333.1:p.Val488Met	NC_000017.10:g.42334882C>T	OMIM Allelic Variant:109270.0022	C1969038 611590 Renal tubular acidosis, distal, with hemolytic anemia; C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter)	6521	SLC4A1	Pathogenic	121912742	RCV000019338;	N	MedGen:C2675212,OMIM:612653	17	42335880	42335880	NM_000342.3:c.988C>T	NP_000333.1:p.Gln330Ter	NC_000017.10:g.42335880G>A	OMIM Allelic Variant:109270.0008	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)	6521	SLC4A1	Pathogenic	28931583	RCV000019332;	N	MedGen:C2675212,OMIM:612653	17	42335888	42335888	NM_000342.3:c.980C>G	NP_000333.1:p.Pro327Arg	NC_000017.10:g.42335888G>C	OMIM Allelic Variant:109270.0003	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter)	6521	SLC4A1	Pathogenic	56361140	RCV000019339;	N	MedGen:C2675212,OMIM:612653	17	42337809	42337809	NM_000342.3:c.448C>T	NP_000333.1:p.Arg150Ter	NC_000017.10:g.42337809G>A	OMIM Allelic Variant:109270.0009	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg)	6521	SLC4A1	Pathogenic	121912749	RCV000019346;	N	MedGen:C2675212,OMIM:612653	17	42337869	42337869	NM_000342.3:c.388G>A	NP_000333.1:p.Gly130Arg	NC_000017.10:g.42337869C>T	OMIM Allelic Variant:109270.0018	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys)	6521	SLC4A1	Pathogenic	28929480	RCV000019353;	N	MedGen:C2675212,OMIM:612653	17	42338084	42338084	NM_000342.3:c.268G>A	NP_000333.1:p.Glu90Lys	NC_000017.10:g.42338084C>T	OMIM Allelic Variant:109270.0023	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	6521	SLC4A1	Pathogenic	45562031	RCV000019333;	N	MedGen:C2675212,OMIM:612653	17	42338993	42338993	NM_000342.3:c.118G>A	NP_000333.1:p.Glu40Lys	NC_000017.10:g.42338993C>T	OMIM Allelic Variant:109270.0004	C2675212 612653 Spherocytosis type 4
NM_000342.3(SLC4A1):c.-62G>A	6521	SLC4A1	Pathogenic	387906565	RCV000019331;	N	MedGen:C2675212,OMIM:612653	17	42340296	42340296	NM_000342.3:c.-62G>A		NC_000017.10:g.42340296C>T	OMIM Allelic Variant:109270.0010	C2675212 612653 Spherocytosis type 4