SPH3
MCID: SPH015
MIFTS: 35

Spherocytosis, Type 3 (SPH3)

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

Aliases & Classifications for Spherocytosis, Type 3

MalaCards integrated aliases for Spherocytosis, Type 3:

Name: Spherocytosis, Type 3 57 13 40 73
Hereditary Spherocytosis Type 3 12 75 15
Sph3 57 12 75
Hs3 57 12 75
Spherocytosis Type 3 29 6
Spherocytosis, Hereditary, 3; Hs3 57
Spherocytosis, Hereditary, 3 57
Hereditary Spherocytosis 3 12
Spherocytosis 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spherocytosis, type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 270970
Disease Ontology 12 DOID:0110918
MedGen 42 C2678338
SNOMED-CT via HPO 69 258211005 61261009 17235000
UMLS 73 C2678338

Summaries for Spherocytosis, Type 3

UniProtKB/Swiss-Prot : 75 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 dna, satellite, iii and retinoblastoma. An important gene associated with Spherocytosis, Type 3 is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are Hematopoietic Stem Cell Differentiation and heparan sulfate biosynthesis. The drugs Epinephrine and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are hemolytic anemia and spherocytosis

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 via clinical synopsis from OMIM:

57
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:

32
# 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.17 RPS3 SULT1C2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.17 RPS3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.17 SULT1C2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.17 SULT1C2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.17 SULT1C2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.17 RPS3

Drugs & Therapeutics for Spherocytosis, Type 3

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4,Phase 2 51-43-4 5816
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 2 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2 50-02-2 5743
4
Racepinephrine Approved Phase 4,Phase 2 329-65-7 838
5 Vasoconstrictor Agents Phase 4,Phase 2
6 Sympathomimetics Phase 4,Phase 2
7 Antineoplastic Agents, Hormonal Phase 4,Phase 2
8
protease inhibitors Phase 4,Phase 2
9 Adrenergic beta-Agonists Phase 4,Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
11 Adrenergic Agonists Phase 4,Phase 2
12 Adrenergic alpha-Agonists Phase 4,Phase 2
13 Antiemetics Phase 4,Phase 2
14 Hormones Phase 4,Phase 2
15 Adrenergic Agents Phase 4,Phase 2
16 Hormone Antagonists Phase 4,Phase 2
17 Epinephryl borate Phase 4,Phase 2
18 glucocorticoids Phase 4,Phase 2
19 Mydriatics Phase 4,Phase 2
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
21 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
22 Autonomic Agents Phase 4,Phase 2
23 Respiratory System Agents Phase 4,Phase 2
24 BB 1101 Phase 4,Phase 2
25 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
26 Anti-Asthmatic Agents Phase 4,Phase 2
27 Neurotransmitter Agents Phase 4,Phase 2
28 Gastrointestinal Agents Phase 4,Phase 2
29 HIV Protease Inhibitors Phase 4,Phase 2
30 Bronchodilator 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 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2
34 Anti-Arrhythmia Agents Phase 3
35 Anesthetics, Local Phase 3
36 Diuretics, Potassium Sparing Phase 3
37 Antirheumatic Agents Phase 3,Phase 2
38 Anesthetics Phase 3
39 Sodium Channel Blockers Phase 3
40 Central Nervous System Depressants Phase 3
41 Cyclooxygenase Inhibitors Phase 3
42 Analgesics, Non-Narcotic Phase 3,Phase 2
43 Analgesics Phase 3,Phase 2
44 tannic acid Approved Phase 1, Phase 2
45
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
46
Curcumin Approved, Experimental, Investigational Phase 2 458-37-7 969516
47 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 Not Applicable
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 29 SPTA1

Anatomical Context for Spherocytosis, Type 3

MalaCards organs/tissues related to Spherocytosis, Type 3:

41
Skin

Publications for Spherocytosis, Type 3

Variations for Spherocytosis, Type 3

ClinVar genetic disease variations for Spherocytosis, Type 3:

6 (show all 11)
# 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 NM_003126.2(SPTA1): c.5190_5310del single nucleotide variant Pathogenic rs754614154 GRCh38 Chromosome 1, 158636763: 158636763
3 SPTA1 SPTA1, IVS30, C-T, -99 single nucleotide variant Pathogenic
4 SPTA1 NM_003126.3(SPTA1): c.1850dup (p.Ser618Glufs) duplication Pathogenic GRCh38 Chromosome 1, 158668046: 158668046
5 SPTA1 NM_003126.3(SPTA1): c.1850dup (p.Ser618Glufs) duplication Pathogenic GRCh37 Chromosome 1, 158637836: 158637836
6 SPTA1 NM_003126.3(SPTA1): c.6421C> T (p.Arg2141Trp) single nucleotide variant Likely pathogenic rs41273519 GRCh38 Chromosome 1, 158619331: 158619331
7 SPTA1 NM_003126.3(SPTA1): c.6421C> T (p.Arg2141Trp) single nucleotide variant Likely pathogenic rs41273519 GRCh37 Chromosome 1, 158589121: 158589121
8 SPTA1 NM_003126.3(SPTA1): c.2898G> A (p.Gln966=) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 158656564: 158656564
9 SPTA1 NM_003126.3(SPTA1): c.2898G> A (p.Gln966=) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 158626354: 158626354
10 SPTA1 NM_003126.3(SPTA1): c.373G> A (p.Ala125Thr) single nucleotide variant Uncertain significance rs201771255 GRCh38 Chromosome 1, 158683388: 158683388
11 SPTA1 NM_003126.3(SPTA1): c.373G> A (p.Ala125Thr) single nucleotide variant Uncertain significance rs201771255 GRCh37 Chromosome 1, 158653178: 158653178

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 10.64 GATA1 KLF1
2
Show member pathways
10.63 HS3ST1 HS3ST3A1 HS3ST5

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 9.26 GATA1 KLF1
2 platelet aggregation GO:0070527 9.16 GATA1 HBB
3 blood coagulation GO:0007596 9.13 F13B GATA1 HBB
4 glycosaminoglycan biosynthetic process GO:0006024 8.8 HS3ST1 HS3ST3A1 HS3ST5

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

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 9.26 HS3ST1 HS3ST3A1 HS3ST5 SULT1C2
2 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity GO:0008467 8.8 HS3ST1 HS3ST3A1 HS3ST5

Sources for Spherocytosis, Type 3

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
Content
Loading form....