SPH3
MCID: SPH015
MIFTS: 34

Spherocytosis, Type 3 (SPH3) malady

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

Aliases & Classifications for Spherocytosis, Type 3

Aliases & Descriptions for Spherocytosis, Type 3:

Name: Spherocytosis, Type 3 54 13 69
Hereditary Spherocytosis Type 3 12 66 14
Sph3 12 66
Hs3 12 66
Hereditary Spherocytosis 3 12
Spherocytosis 3 66

Characteristics:

HPO:

32
spherocytosis, type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 270970
Disease Ontology 12 DOID:0110918
MedGen 40 C2678338

Summaries for Spherocytosis, Type 3

UniProtKB/Swiss-Prot : 66 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 spta1-related spherocytosis and spherocytosis, type 1, 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 embryo

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

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 by clinical synopsis from OMIM:

270970

Clinical features from OMIM:

270970

Human phenotypes related to Spherocytosis, Type 3:

32
id Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878
2 spherocytosis 32 HP:0004444

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

26
id 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

MGI Mouse Phenotypes related to Spherocytosis, Type 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.35 GATA1 HS3ST1 KLF1 NPRL3 YY1
2 integument MP:0010771 9.02 GATA1 KLF1 NPRL3 SPTA1 YY1

Drugs & Therapeutics for Spherocytosis, Type 3

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

(show all 46)
id 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 Adrenergic Agents Phase 4,Phase 2
4 Adrenergic Agonists Phase 4,Phase 2
5 Adrenergic alpha-Agonists Phase 4,Phase 2
6 Adrenergic beta-Agonists Phase 4,Phase 2
7 Anti-Asthmatic Agents Phase 4,Phase 2
8 Antiemetics Phase 4,Phase 2
9 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
10 Antineoplastic Agents, Hormonal Phase 4,Phase 2
11 Autonomic Agents Phase 4,Phase 2
12 BB 1101 Phase 4,Phase 2
13 Bronchodilator Agents Phase 4,Phase 2
14 Dexamethasone 21-phosphate 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 1,Phase 2
27
protease inhibitors Phase 4,Phase 2
28 Racepinephrine Phase 4,Phase 2
29 Respiratory System Agents Phase 4,Phase 2
30 Vasoconstrictor Agents Phase 4,Phase 2
31
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
32
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
33 Analgesics Phase 3,Phase 2
34 Analgesics, Non-Narcotic Phase 3,Phase 2
35 Anesthetics Phase 3
36 Anesthetics, Local Phase 3
37 Anti-Arrhythmia Agents Phase 3
38 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2
39 Antirheumatic Agents Phase 3,Phase 2
40 Central Nervous System Depressants Phase 3
41 Cyclooxygenase Inhibitors Phase 3
42 Diuretics, Potassium Sparing Phase 3
43 Sodium Channel Blockers Phase 3
44
Benzocaine Approved Phase 1, Phase 2 1994-09-7, 94-09-7 2337
45 tannic acid Approved, Nutraceutical Phase 1, Phase 2
46
Curcumin Phase 2 458-37-7 969516

Interventional clinical trials:


id Name Status NCT ID Phase
1 Epinephrine, Dexamethasone, and Hypertonic Saline in Bronchiolitis, Randomised Clinical Trial of Efficacy and Safety Completed NCT01834820 Phase 4
2 Diclofenac Potassium With Lidocaine Cream in Reducing Pain During HSG Completed NCT02709590 Phase 3
3 Micellar Curcumin and Metabolic Syndrome Biomarkers Completed NCT01925547 Phase 2
4 Safety and Feasibility of Hypertonic Saline Solution After Aneurysmal Subarachnoid Hemorrhage: Recruiting NCT02432157 Phase 1, Phase 2
5 Epinephrine, Dexamethasone and Hypertonic Saline in Bronchiolitis Not yet recruiting NCT02585531 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

Anatomical Context for Spherocytosis, Type 3

Publications for Spherocytosis, Type 3

Variations for Spherocytosis, Type 3

ClinVar genetic disease variations for Spherocytosis, Type 3:

6
id 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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 enhancer sequence-specific DNA binding GO:0001158 9.16 GATA1 YY1
2 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity GO:0008467 8.96 HS3ST1 HS3ST5
3 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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