MCID: SPH015
MIFTS: 41

Spherocytosis, Type 3

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

Aliases & Classifications for Spherocytosis, Type 3

MalaCards integrated aliases for Spherocytosis, Type 3:

Name: Spherocytosis, Type 3 53 13 69
Hereditary Spherocytosis Type 3 12 71 14
Sph3 53 12 71
Hs3 53 12 71
Spherocytosis, Hereditary, 3; Hs3 53
Spherocytosis, Hereditary, 3 53
Hereditary Spherocytosis 3 12
Spherocytosis Type 3 28
Spherocytosis 3 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
spherocytosis, type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 270970
Disease Ontology 12 DOID:0110918
MedGen 39 C2678338
SNOMED-CT via HPO 65 258211005 61261009 17235000
UMLS 69 C2678338

Summaries for Spherocytosis, Type 3

UniProtKB/Swiss-Prot : 71 Spherocytosis 3: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.

MalaCards based summary : Spherocytosis, Type 3, also known as hereditary spherocytosis type 3, is related to spherocytosis, type 4 and dna, satellite, iii, and has symptoms including hemolytic anemia and spherocytosis. An important gene associated with Spherocytosis, Type 3 is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are heparan sulfate biosynthesis and Signaling events mediated by HDAC Class I. The drugs Dexamethasone and Epinephrine have been mentioned in the context of this disorder. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A hereditary spherocytosis that has material basis in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1.

Description from OMIM: 270970

Related Diseases for Spherocytosis, Type 3

Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 1 Spherocytosis, Type 3
Spherocytosis, Type 4 Spherocytosis, Type 5
Spherocytosis, Type 2

Diseases related to Spherocytosis, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spherocytosis, type 4 29.6 F13B GATA1 KLF1
2 dna, satellite, iii 11.4
3 thalassemia 10.0
4 allergic hypersensitivity disease 10.0
5 lymphoma 9.9
6 acute erythroid leukemia 9.8 GATA1 KLF1
7 spherocytosis, type 2 9.2 F13B GATA1 KLF1 NPRL3 SULT1C2
8 hereditary spherocytosis 8.9 GATA1 HS3ST1 KLF1 NPRL3 RPS3 SPTA1

Graphical network of the top 20 diseases related to Spherocytosis, Type 3:



Diseases related to Spherocytosis, Type 3

Symptoms & Phenotypes for Spherocytosis, Type 3

Symptoms via clinical synopsis from OMIM:

53
Hematology:
severe hemolytic anemia
spherocytosis red cell membranes deficient in spectrin with band 1 reduced more than band 2
normal spectrin membrane binding and binding sites (ankyrin)


Clinical features from OMIM:

270970

Human phenotypes related to Spherocytosis, Type 3:

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878
2 spherocytosis 31 HP:0004444

GenomeRNAi Phenotypes related to Spherocytosis, Type 3 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.23 RPS3 SULT1C2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.23 SULT1C2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.23 RPS3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.23 SULT1C2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.23 SULT1C2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.23 SULT1C2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.23 RPS3

Drugs & Therapeutics for Spherocytosis, Type 3

Drugs for Spherocytosis, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2 50-02-2 5743
2
Epinephrine Approved, Vet_approved Phase 4,Phase 2 51-43-4 5816
3 Racepinephrine Approved Phase 4,Phase 2 329-65-7
4 Adrenergic Agents Phase 4,Phase 2
5 Adrenergic Agonists Phase 4,Phase 2
6 Adrenergic alpha-Agonists Phase 4,Phase 2
7 Adrenergic beta-Agonists Phase 4,Phase 2
8 Anti-Asthmatic Agents Phase 4,Phase 2
9 Antiemetics Phase 4,Phase 2
10 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
11 Antineoplastic Agents, Hormonal Phase 4,Phase 2
12 Autonomic Agents Phase 4,Phase 2
13 BB 1101 Phase 4,Phase 2
14 Bronchodilator Agents Phase 4,Phase 2
15 Dexamethasone acetate Phase 4,Phase 2 1177-87-3
16 Epinephryl borate Phase 4,Phase 2
17 Gastrointestinal Agents Phase 4,Phase 2
18 glucocorticoids Phase 4,Phase 2
19 HIV Protease Inhibitors Phase 4,Phase 2
20 Hormone Antagonists Phase 4,Phase 2
21 Hormones Phase 4,Phase 2
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
23 Mydriatics Phase 4,Phase 2
24 Neurotransmitter Agents Phase 4,Phase 2
25 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
26 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
27
protease inhibitors Phase 4,Phase 2
28 Respiratory System Agents Phase 4,Phase 2
29 Vasoconstrictor Agents Phase 4,Phase 2
30
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
31
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
32 Analgesics Phase 3,Phase 2
33 Analgesics, Non-Narcotic Phase 3,Phase 2
34 Anesthetics Phase 3
35 Anesthetics, Local Phase 3
36 Anti-Arrhythmia Agents Phase 3
37 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2
38 Antirheumatic Agents Phase 3,Phase 2
39 Central Nervous System Depressants Phase 3
40 Cyclooxygenase Inhibitors Phase 3
41 Diuretics, Potassium Sparing Phase 3
42 Sodium Channel Blockers Phase 3
43
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
44
Curcumin Approved, Investigational Phase 2 458-37-7 969516
45 tannic acid Approved, Nutraceutical Phase 1, Phase 2
46 Arginine Vasopressin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Epinephrine, Dexamethasone, and Hypertonic Saline in Bronchiolitis, Randomised Clinical Trial of Efficacy and Safety Completed NCT01834820 Phase 4 Epinephrine and Dexamethasone;Hypertonic Saline;Normal Saline
2 Diclofenac Potassium With Lidocaine Cream in Reducing Pain During HSG Completed NCT02709590 Phase 3 diclofenac potassium + lidocaine;placebo
3 Epinephrine, Dexamethasone and Hypertonic Saline in Bronchiolitis Unknown status NCT02585531 Phase 2 Hypertonic Saline 3%;Epinephrine and Dexamethasone
4 Safety and Feasibility of Hypertonic Saline Solution After Aneurysmal Subarachnoid Hemorrhage: Unknown status NCT02432157 Phase 1, Phase 2 HTS 3%;Standard fluid management
5 Micellar Curcumin and Metabolic Syndrome Biomarkers Completed NCT01925547 Phase 2
6 Influence of the Nebulizer on the Clinical Efficacy of Hypertonic Saline 3% in Children Aged Less Than 18 Months and Hospitalized With Acute Viral Bronchiolitis Unknown status NCT01295398
7 High Sensitive Troponin T (hsTnT) and Copeptin as Prognostic Parameters in Patients With Elective Total Endoprosthesis Unknown status NCT01335815

Search NIH Clinical Center for Spherocytosis, Type 3

Genetic Tests for Spherocytosis, Type 3

Genetic tests related to Spherocytosis, Type 3:

# Genetic test Affiliating Genes
1 Spherocytosis Type 3 28 SPTA1

Anatomical Context for Spherocytosis, Type 3

Publications for Spherocytosis, Type 3

Articles related to Spherocytosis, Type 3:

(show all 20)
# Title Authors Year
1
Hb S/I^+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the I^ locus control region. ( 25682598 )
2015
2
Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations. ( 21232998 )
2011
3
Expression of green fluorescent protein under the regulation of human locus control region elements HS2 and HS3 in transgenic mice. ( 18512117 )
2008
4
Activation of the c-myc p1 promoter in Burkitt's lymphoma by the hs3 immunoglobulin heavy-chain gene enhancer. ( 17287852 )
2007
5
Synergistic and additive properties of the beta-globin locus control region (LCR) revealed by 5'HS3 deletion mutations: implication for LCR chromatin architecture. ( 16055715 )
2005
6
Locus control region elements HS2 and HS3 in combination with chromatin boundaries confer high-level expression of a human beta-globin transgene in a centromeric region. ( 15507116 )
2004
7
Effects of human locus control region elements HS2 and HS3 on human beta-globin gene expression in transgenic mouse. ( 14636653 )
2003
8
Beta-globin locus control region HS2 and HS3 interact structurally and functionally. ( 12582237 )
2003
9
[A study of the effect of locus control region elements HS2 and HS3 on beta-globin gene expression]. ( 12143302 )
2002
10
Locus control region activity by 5'HS3 requires a functional interaction with beta-globin gene regulatory elements: expression of novel beta/gamma-globin hybrid transgenes. ( 10807795 )
2000
11
The roles of 5'-HS2, 5'-HS3, and the gamma-globin TATA, CACCC, and stage selector elements in suppression of beta-globin expression in early development. ( 10196210 )
1999
12
Erythroid KrA1ppel-like factor (EKLF) is active in primitive and definitive erythroid cells and is required for the function of 5'HS3 of the beta-globin locus control region. ( 9545245 )
1998
13
Developmental specificity of the interaction between the locus control region and embryonic or fetal globin genes in transgenic mice with an HS3 core deletion. ( 9632803 )
1998
14
[Studies on DNA-protein interactions in the HS3 of the human beta-LCR]. ( 12014146 )
1998
15
Effect of deletion of 5'HS3 or 5'HS2 of the human beta-globin locus control region on the developmental regulation of globin gene expression in beta-globin locus yeast artificial chromosome transgenic mice. ( 8692864 )
1996
16
Role of DNA sequences outside the cores of DNase hypersensitive sites (HSs) in functions of the beta-globin locus control region. Domain opening and synergism between HS2 and HS3. ( 8662652 )
1996
17
Partial repression of human gamma-globin genes by LCR element HS3 when linked to beta-globin genes and LCR element HS2 in MEL cells. ( 8619403 )
1996
18
Synergistic regulation of human beta-globin gene switching by locus control region elements HS3 and HS4. ( 8543153 )
1995
19
The position of integration affects expression of the A gamma-globin-encoding gene linked to HS3 in transgenic mice. ( 7642090 )
1995
20
Comparative analysis of the locus control region of the rabbit beta-like gene cluster: HS3 increases transient expression of an embryonic epsilon-globin gene. ( 8464710 )
1993

Variations for Spherocytosis, Type 3

ClinVar genetic disease variations for Spherocytosis, Type 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTA1 NM_003126.2(SPTA1): c.5190_5310del single nucleotide variant Pathogenic rs754614154 GRCh37 Chromosome 1, 158606553: 158606553
2 SPTA1 SPTA1, IVS30, C-T, -99 single nucleotide variant Pathogenic

Expression for Spherocytosis, Type 3

Search GEO for disease gene expression data for Spherocytosis, Type 3.

Pathways for Spherocytosis, Type 3

Pathways related to Spherocytosis, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.09 HS3ST1 HS3ST5
2 10.98 GATA1 YY1
3 10.64 GATA1 KLF1
4 10.3 GATA1 YY1

GO Terms for Spherocytosis, Type 3

Biological processes related to Spherocytosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 8.96 GATA1 KLF1
2 glycosaminoglycan biosynthetic process GO:0006024 8.62 HS3ST1 HS3ST5

Molecular functions related to Spherocytosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proximal promoter sequence-specific DNA binding GO:0000987 9.26 KLF1 YY1
2 enhancer sequence-specific DNA binding GO:0001158 9.16 GATA1 YY1
3 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity GO:0008467 8.96 HS3ST1 HS3ST5
4 sulfotransferase activity GO:0008146 8.8 HS3ST1 HS3ST5 SULT1C2

Sources for Spherocytosis, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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