MCID: SPH014
MIFTS: 39

Spherocytosis, Type 2

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Spherocytosis, Type 2

MalaCards integrated aliases for Spherocytosis, Type 2:

Name: Spherocytosis, Type 2 57
Hereditary Spherocytosis Type 2 12 75 15
Spherocytosis, Hereditary, 2 57 75 73
Sph2 57 12 75
Hs2 57 12 75
Spherocytosis Type 2 29 6
Spherocytosis, Type 2, Autosomal Dominant 75
Spherocytosis, Hereditary, 2; Hs2 57
Hereditary Spherocytosis 2 12
Spherocytosis 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spherocytosis, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616649
Disease Ontology 12 DOID:0110917
MeSH 44 D013103
UMLS 73 C2674219

Summaries for Spherocytosis, Type 2

OMIM : 57 Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008). For a general description and a discussion of genetic heterogeneity of hereditary spherocytosis, see 182900. (616649)

MalaCards based summary : Spherocytosis, Type 2, also known as hereditary spherocytosis type 2, is related to hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome and hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, and has symptoms including icterus An important gene associated with Spherocytosis, Type 2 is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Hematopoietic Stem Cell Differentiation. The drugs Adjuvants, Anesthesia and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are jaundice and splenomegaly

UniProtKB/Swiss-Prot : 75 Spherocytosis 2: An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity.

Disease Ontology : 12 A hereditary spherocytosis that has material basis in an autosomal dominant mutation of SPTB on chromosome 14q23.3.

Related Diseases for Spherocytosis, Type 2

Graphical network of the top 20 diseases related to Spherocytosis, Type 2:



Diseases related to Spherocytosis, Type 2

Symptoms & Phenotypes for Spherocytosis, Type 2

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
jaundice

Hematology:
spherocytosis
hemolytic anemia
reticulocytosis

AbdomenSpleen:
splenomegaly

Laboratory Abnormalities:
reduction of beta-spectrin to protein 4.1 binding
increased reticulocyte count
hyperbilirubinemia
increased osmotic fragility


Clinical features from OMIM:

616649

Human phenotypes related to Spherocytosis, Type 2:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 splenomegaly 32 HP:0001744
3 hemolytic anemia 32 HP:0001878
4 reticulocytosis 32 HP:0001923
5 hyperbilirubinemia 32 HP:0002904
6 spherocytosis 32 HP:0004444

UMLS symptoms related to Spherocytosis, Type 2:


icterus

MGI Mouse Phenotypes related to Spherocytosis, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 GATA1 HS2ST1 KLF1 NPRL3 SPTB

Drugs & Therapeutics for Spherocytosis, Type 2

Drugs for Spherocytosis, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adjuvants, Anesthesia Phase 4
2 Anesthetics Phase 4
3 Anticonvulsants Phase 4
4 Autonomic Agents Phase 4
5 Bromides Phase 4
6 Butylscopolammonium Bromide Phase 4
7 Cholinergic Agents Phase 4
8 Cholinergic Antagonists Phase 4
9 Muscarinic Antagonists Phase 4
10 Mydriatics Phase 4
11 Neurotransmitter Agents Phase 4
12 Parasympatholytics Phase 4
13 Peripheral Nervous System Agents Phase 4,Early Phase 1
14 Scopolamine hydrobromide Phase 4 114-49-8
15
Acyclovir Approved Phase 3 59277-89-3 2022
16 Anti-Infective Agents Phase 3
17 Antiviral Agents Phase 3
18 valacyclovir Phase 3
19
Curcumin Approved, Investigational Early Phase 1 458-37-7 969516
20 Ferulic acid Experimental Early Phase 1 1135-24-6
21
Naringenin Experimental Early Phase 1 480-41-1 439246
22 Analgesics Early Phase 1
23 Analgesics, Non-Narcotic Early Phase 1
24 Anti-Inflammatory Agents Early Phase 1
25 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
26 Antirheumatic Agents Early Phase 1
27 Turmeric extract Early Phase 1
28 Turmeric Nutraceutical Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hyoscine Butyl Bromide in Reducing Pain During HSG Completed NCT02709603 Phase 4 hyoscine butyl bromide;placebo
2 A Disease Management Study Targeted to Reduce Health Care Utilization for Patients With Congestive Heart Failure Unknown status NCT02251899 Phase 3
3 Valaciclovir to Prevent Transmission of Herpes Simplex Virus Completed NCT00001649 Phase 3 Valaciclovir
4 Does the Harmonic Scalpel Reduce Blood Loss and OR Time in Major Head and Neck Cancer Surgery Undergoing Major Surgery for Oral Cavity Squamous Cell Carcinoma? Completed NCT02017834 Not Applicable
5 Improved Oral Bioavailability of Curcumin Incorporated Into Micelles Completed NCT01982734 Early Phase 1
6 TnThs Predicting Evolving Non-STEMI Completed NCT00953251
7 Effects of Long-Term Treatment With Valaciclovir (Valtrex) on Epstein-Barr Virus Completed NCT00005924

Search NIH Clinical Center for Spherocytosis, Type 2

Genetic Tests for Spherocytosis, Type 2

Genetic tests related to Spherocytosis, Type 2:

# Genetic test Affiliating Genes
1 Spherocytosis Type 2 29 SPTB

Anatomical Context for Spherocytosis, Type 2

MalaCards organs/tissues related to Spherocytosis, Type 2:

41
Heart

Publications for Spherocytosis, Type 2

Variations for Spherocytosis, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Spherocytosis, Type 2:

75
# Symbol AA change Variation ID SNP ID
1 SPTB p.Trp202Arg VAR_001352 rs121918646

ClinVar genetic disease variations for Spherocytosis, Type 2:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTB NM_001355437.1(SPTB): c.1912delC (p.Arg638Aspfs) deletion Pathogenic rs863223304 GRCh38 Chromosome 14, 64793751: 64793751
2 SPTB NM_001355436.1(SPTB): c.5266C> T (p.Arg1756Ter) single nucleotide variant Pathogenic rs267607086 GRCh37 Chromosome 14, 65239585: 65239585
3 SPTB NM_001355436.1(SPTB): c.5266C> T (p.Arg1756Ter) single nucleotide variant Pathogenic rs267607086 GRCh38 Chromosome 14, 64772867: 64772867
4 SPTB NM_001355436.1(SPTB): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121918651 GRCh38 Chromosome 14, 64823094: 64823094
5 SPTB NM_001355437.1(SPTB): c.1912delC (p.Arg638Aspfs) deletion Pathogenic rs863223304 GRCh37 Chromosome 14, 65260469: 65260469
6 SPTB NM_001355437.1(SPTB): c.604T> C (p.Trp202Arg) single nucleotide variant Pathogenic rs121918646 GRCh37 Chromosome 14, 65268515: 65268515
7 SPTB NM_001355437.1(SPTB): c.604T> C (p.Trp202Arg) single nucleotide variant Pathogenic rs121918646 GRCh38 Chromosome 14, 64801797: 64801797
8 SPTB SPTB, EX22-23DEL deletion Pathogenic
9 SPTB NM_001355436.1(SPTB): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121918651 GRCh37 Chromosome 14, 65289812: 65289812
10 SPTB NM_001355436.1(SPTB): c.1795+1G> A single nucleotide variant Likely pathogenic rs786204766 GRCh38 Chromosome 14, 64794466: 64794466
11 SPTB NM_001355436.1(SPTB): c.1795+1G> A single nucleotide variant Likely pathogenic rs786204766 GRCh37 Chromosome 14, 65261184: 65261184
12 SPTB NM_001355437.1(SPTB): c.5455G> T (p.Glu1819Ter) single nucleotide variant Likely pathogenic rs200386310 GRCh38 Chromosome 14, 64772678: 64772678
13 SPTB NM_001355437.1(SPTB): c.5455G> T (p.Glu1819Ter) single nucleotide variant Likely pathogenic rs200386310 GRCh37 Chromosome 14, 65239396: 65239396
14 deletion Pathogenic
15 SPTB NM_001024858.3(SPTB): c.5623C> T (p.Gln1875Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 65237778: 65237778
16 SPTB NM_001024858.3(SPTB): c.5623C> T (p.Gln1875Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 64771060: 64771060
17 SPTB NM_001024858.3(SPTB): c.4973+5G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 65241110: 65241110
18 SPTB NM_001024858.3(SPTB): c.4973+5G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 64774392: 64774392
19 SPTB NM_001024858.3(SPTB): c.3916C> T (p.Arg1306Ter) single nucleotide variant Likely pathogenic rs150471537 GRCh37 Chromosome 14, 65251051: 65251051
20 SPTB NM_001024858.3(SPTB): c.3916C> T (p.Arg1306Ter) single nucleotide variant Likely pathogenic rs150471537 GRCh38 Chromosome 14, 64784333: 64784333
21 SPTB NM_001024858.3(SPTB): c.2863C> T (p.Arg955Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 64787102: 64787102
22 SPTB NM_001024858.3(SPTB): c.2863C> T (p.Arg955Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 65253820: 65253820
23 SPTB NM_001024858.3(SPTB): c.1331_1338del (p.Leu444Profs) deletion Pathogenic GRCh38 Chromosome 14, 64796560: 64796567
24 SPTB NM_001024858.3(SPTB): c.1331_1338del (p.Leu444Profs) deletion Pathogenic GRCh37 Chromosome 14, 65263278: 65263285
25 SPTB NM_001024858.3(SPTB): c.647G> A (p.Arg216Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 65268472: 65268472
26 SPTB NM_001024858.3(SPTB): c.647G> A (p.Arg216Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 64801754: 64801754

Expression for Spherocytosis, Type 2

Search GEO for disease gene expression data for Spherocytosis, Type 2.

Pathways for Spherocytosis, Type 2

Pathways related to Spherocytosis, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11 GATA1 HBB HBE1
2 10.64 GATA1 KLF1

GO Terms for Spherocytosis, Type 2

Cellular components related to Spherocytosis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemoglobin complex GO:0005833 8.62 HBB HBE1

Biological processes related to Spherocytosis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 9.26 GATA1 KLF1
2 platelet aggregation GO:0070527 9.16 GATA1 HBB
3 oxygen transport GO:0015671 8.96 HBB HBE1
4 blood coagulation GO:0007596 8.92 F13B GATA1 HBB HBE1

Molecular functions related to Spherocytosis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxygen binding GO:0019825 9.16 HBB HBE1
2 oxygen carrier activity GO:0005344 8.96 HBB HBE1
3 sulfotransferase activity GO:0008146 8.8 HS2ST1 SULT1C2 UST

Sources for Spherocytosis, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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