SPH1
MCID: SPH013
MIFTS: 41

Spherocytosis, Type 1 (SPH1)

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

Aliases & Classifications for Spherocytosis, Type 1

MalaCards integrated aliases for Spherocytosis, Type 1:

Name: Spherocytosis, Type 1 57 13 39 70
Hereditary Spherocytosis Type 1 12 72 15
Sph1 57 12 72
Hs1 57 12 72
Spherocytosis Type 1 29 6
Spherocytosis, Hereditary, 1; Hs1 57
Spherocytosis, Hereditary, 1 57
Hereditary Spherocytosis 1 12
Spherocytosis 1 72
Sph; Hs 57
Sph 57
Hs 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
patients with homozygous mutations have a more severe disorder


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0110916
OMIM® 57 182900
MeSH 44 D013103
UMLS 70 C2674218

Summaries for Spherocytosis, Type 1

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). Elgsaeter et al. (1986) gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin (102630), band 4.1 (130500), and band 3 (109270), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see 611904). See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders. (182900) (Updated 05-Apr-2021)

MalaCards based summary : Spherocytosis, Type 1, also known as hereditary spherocytosis type 1, is related to hereditary spherocytosis and leukemia, chronic lymphocytic, and has symptoms including icterus An important gene associated with Spherocytosis, Type 1 is ANK1 (Ankyrin 1), and among its related pathways/superpathways is Metabolism of proteins. Affiliated tissues include spleen, and related phenotypes are splenomegaly and cholelithiasis

Disease Ontology : 12 A hereditary spherocytosis that has material basis in an autosomal dominant mutation of ANK1 on chromosome 8p11.21.

UniProtKB/Swiss-Prot : 72 Spherocytosis 1: A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder.

Related Diseases for Spherocytosis, Type 1

Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 1 Spherocytosis, Type 3
Spherocytosis, Type 4 Spherocytosis, Type 5
Spherocytosis, Type 2 Epb42-Related Hereditary Spherocytosis

Diseases related to Spherocytosis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 hereditary spherocytosis 31.7 SACM1L RPS3A PGLYRP1 IGHV4-38-2 H2AC18 ANK1
2 leukemia, chronic lymphocytic 10.3
3 transvestism 10.2 H2BC21 H2AC18
4 orchitis 10.2 H2AC18 EPPIN
5 epilepsy, idiopathic generalized 2 10.2 H2BC21 H2AC18
6 congenital hemolytic anemia 10.2 RPS3A H2AC18 ANK1
7 childhood spinal muscular atrophy 10.2 ST8SIA4 SACM1L CNOT1
8 retinitis pigmentosa 49 10.2 PGLYRP1 H2AC18 CNOT1
9 spinal muscular atrophy, type i 10.2 ST8SIA4 SACM1L CNOT1
10 thalassemia 10.1
11 spherocytosis, type 4 10.1 RPS3A IGHV4-38-2 H2AC18
12 spherocytosis, type 3 10.1 RPS3A IGHV4-38-2 H2AC18
13 hyperoxaluria, primary, type i 10.1 H2BC21 H2AC18 H1-0
14 carbohydrate metabolic disorder 10.1 H2BC21 H2AC18 H1-0
15 retinitis pigmentosa 23 10.1 IGHV4-38-2 H2AC18 CNOT1
16 schuurs-hoeijmakers syndrome 10.1 IGHV4-38-2 H2AC18
17 beta-thalassemia 10.1
18 beta-thalassemia major 10.1
19 leukemia 10.1
20 essential tremor 10.1
21 tremor 10.1
22 primary hyperoxaluria 10.0 H2BC21 H2AC18 H1-0
23 pulmonary hypertension, primary, 3 10.0
24 head injury 10.0
25 newborn respiratory distress syndrome 10.0 SFTPA2 EPPIN
26 omenn syndrome 10.0 PRSS54 IGHV4-38-2 H2AC18
27 alpha thalassemia-x-linked intellectual disability syndrome 10.0 H2AC18 EPPIN
28 immunodeficiency with hyper-igm, type 2 10.0 IGHV4-38-2 H2AC18
29 systemic lupus erythematosus 10.0
30 wiskott-aldrich syndrome 10.0
31 b-lymphoblastic leukemia/lymphoma 10.0
32 beta-thalassemia intermedia 10.0
33 lupus erythematosus 10.0
34 traumatic brain injury 10.0
35 spherocytosis, type 2 10.0 RPS3A PRSS54 PGLYRP1 EXOSC1
36 dyskeratosis congenita 9.9 SFTPA2 HAX1 H2AC18 COIL
37 aortic aneurysm, familial abdominal, 1 9.9
38 pulmonary hypertension, primary, 4 9.9
39 paroxysmal nocturnal hemoglobinuria 2 9.9
40 dengue disease 9.9
41 neonatal jaundice 9.9
42 vaccinia 9.9
43 pancreatic ductal adenocarcinoma 9.9
44 aortic aneurysm 9.9
45 ring chromosome 3 9.9
46 aneurysm 9.9
47 autoimmune disease 9.8
48 parkinson disease, late-onset 9.8
49 tremor, hereditary essential, 1 9.8
50 tremor, hereditary essential, 2 9.8

Graphical network of the top 20 diseases related to Spherocytosis, Type 1:



Diseases related to Spherocytosis, Type 1

Symptoms & Phenotypes for Spherocytosis, Type 1

Human phenotypes related to Spherocytosis, Type 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 cholelithiasis 31 HP:0001081
3 jaundice 31 HP:0000952
4 hemolytic anemia 31 HP:0001878
5 reticulocytosis 31 HP:0001923
6 hyperbilirubinemia 31 HP:0002904
7 spherocytosis 31 HP:0004444

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Hematology:
hemolytic anemia
reticulocytosis
spherocytosis

Abdomen Biliary Tract:
gallstones

Abdomen Liver:
jaundice

Laboratory Abnormalities:
hyperbilirubinemia
increased reticulocyte count
increased osmotic fragility
negative direct antiglobulin (coombs) test
elevated mchc

Clinical features from OMIM®:

182900 (Updated 05-Apr-2021)

UMLS symptoms related to Spherocytosis, Type 1:


icterus

Drugs & Therapeutics for Spherocytosis, Type 1

Search Clinical Trials , NIH Clinical Center for Spherocytosis, Type 1

Genetic Tests for Spherocytosis, Type 1

Genetic tests related to Spherocytosis, Type 1:

# Genetic test Affiliating Genes
1 Spherocytosis Type 1 29 ANK1

Anatomical Context for Spherocytosis, Type 1

MalaCards organs/tissues related to Spherocytosis, Type 1:

40
Spleen

Publications for Spherocytosis, Type 1

Articles related to Spherocytosis, Type 1:

(show top 50) (show all 125)
# Title Authors PMID Year
1
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. 6 57
17327413 2007
2
Hereditary spherocytosis. 57
18940465 2008
3
The molecular basis of hereditary red cell membrane disorders. 57
16730867 2007
4
Guidelines for the diagnosis and management of hereditary spherocytosis. 57
15287938 2004
5
Hereditary spherocytosis associated with mutations in HFE gene. 57
12961032 2003
6
Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. 6
12899723 2003
7
Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression. 57
11527968 2001
8
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. 6
11167760 2000
9
Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis. 57
9887280 1998
10
Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. 6
9590147 1998
11
An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene. 57
9430667 1998
12
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. 57
8941647 1996
13
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. 57
8640229 1996
14
Hereditary spherocytic anemia with deletion of the short arm of chromosome 8. 57
8533822 1995
15
A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. 6
7883994 1995
16
Homozygosity for dominant form of hereditary spherocytosis. 57
1486040 1992
17
Deletion of the proximal short arm of chromosome 8. 57
1308359 1992
18
Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. 57
1716634 1991
19
Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases. 57
1832935 1991
20
Congenital spherocytosis, B19 parvovirus infection and inherited interstitial deletion of the short arm of chromosome 8. 57
1648374 1991
21
Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin. 57
1702027 1991
22
Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. 57
1977081 1990
23
Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. 57
2141669 1990
24
Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin. 57
2139228 1990
25
Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins. 57
2137557 1990
26
Hereditary disorders of the red cell membrane skeleton. 57
2675425 1989
27
Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis. 57
2961992 1988
28
Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21. 57
3338796 1988
29
Hypertrophic cardiomyopathy associated with hereditary spherocytosis in three generations of one family. 57
2889050 1987
30
Hereditary spherocytosis revealed by human parvovirus infection. 57
3032229 1987
31
Association of red cell spherocytosis with deletion of the short arm of chromosome 8. 57
3790722 1987
32
The molecular basis of erythrocyte shape. 57
3775380 1986
33
Hemochromatosis heterozygotes may have significant iron overload when they also have hereditary spherocytosis. 57
3777017 1986
34
Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload. 57
3776916 1986
35
Six cases of hereditary spherocytosis revealed by human parvovirus infection. 57
3008804 1986
36
Epidemic of aplastic crisis in patients with hereditary spherocytosis in Japan. 57
2861357 1985
37
Further evidence for location of the spherocytosis gene on chromosome 8. 57
6881776 1983
38
Infection with parvovirus-like virus and aplastic crisis in chronic hemolytic anemia. 57
6859707 1983
39
A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. 57
6215583 1982
40
Thrombocyte aggregation in hereditary spherocytosis. 57
7067124 1982
41
Hereditary spherocytosis of man. Altered binding of cytoskeletal components to the erythrocyte membrane. 57
7082289 1982
42
Hereditary spherocytosis linkage. 57
7426448 1980
43
Transient aplastic crisis in hereditary spherocytosis. 57
6768206 1980
44
Reconstitution of spectrin-deficient, spherocytic mouse erythrocyte membranes. 57
379045 1979
45
Linkage and gene localization of hereditary spherocytosis (HS). 57
100151 1978
46
Glutathione reductase deficiency in a kindred with hereditary spherocytosis. 57
354376 1978
47
Studies on herediatary spherocytosis in Iceland. 57
848355 1977
48
HLA and hereditary spherocytosis. 57
919417 1977
49
Absence of one component of spectrin adenosine triphosphatase in hereditary spherocytosis. 57
128393 1975
50
Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation. 57
1163534 1975

Variations for Spherocytosis, Type 1

ClinVar genetic disease variations for Spherocytosis, Type 1:

6 (show top 50) (show all 274)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANK1 NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) SNV Pathogenic 506 rs137852829 GRCh37: 8:41529963-41529963
GRCh38: 8:41672445-41672445
2 ANK1 NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) SNV Pathogenic 509 rs137852830 GRCh37: 8:41526016-41526016
GRCh38: 8:41668498-41668498
3 ANK1 NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) SNV Pathogenic 510 rs137852831 GRCh37: 8:41519441-41519441
GRCh38: 8:41661923-41661923
4 ANK1 NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter) SNV Pathogenic 544800 rs1554522035 GRCh37: 8:41526027-41526027
GRCh38: 8:41668509-41668509
5 ANK1 NM_000037.4(ANK1):c.1702-2A>C SNV Pathogenic 544801 rs1554567249 GRCh37: 8:41571774-41571774
GRCh38: 8:41714256-41714256
6 ANK1 NM_000037.4(ANK1):c.534del (p.His178fs) Deletion Pathogenic 544804 rs1554578304 GRCh37: 8:41583357-41583357
GRCh38: 8:41725839-41725839
7 ANK1 NM_000037.4(ANK1):c.1519dup (p.Leu507fs) Duplication Pathogenic 511 rs397514029 GRCh37: 8:41573252-41573253
GRCh38: 8:41715734-41715735
8 ANK1 NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) SNV Pathogenic 617979 rs1563502820 GRCh37: 8:41563729-41563729
GRCh38: 8:41706211-41706211
9 ANK1 NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) SNV Pathogenic 811943 rs1586072383 GRCh37: 8:41543754-41543754
GRCh38: 8:41686236-41686236
10 ANK1 NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) SNV Pathogenic 811958 rs750820522 GRCh37: 8:41546059-41546059
GRCh38: 8:41688541-41688541
11 ANK1 NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) SNV Pathogenic 811917 rs1586145051 GRCh37: 8:41550697-41550697
GRCh38: 8:41693179-41693179
12 ANK1 NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) SNV Pathogenic 544802 rs777701149 GRCh37: 8:41542137-41542137
GRCh38: 8:41684619-41684619
13 ANK1 NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) SNV Pathogenic 993881 GRCh37: 8:41566403-41566403
GRCh38: 8:41708885-41708885
14 ANK1 NM_000037.4(ANK1):c.3984+2T>C SNV Pathogenic 994042 GRCh37: 8:41547990-41547990
GRCh38: 8:41690472-41690472
15 ANK1 NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) Deletion Pathogenic 994253 GRCh37: 8:41552715-41552718
GRCh38: 8:41695197-41695200
16 ANK1 NM_000037.4(ANK1):c.1702-3_1710del Deletion Pathogenic 994264 GRCh37: 8:41571764-41571775
GRCh38: 8:41714246-41714257
17 ANK1 NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) SNV Pathogenic 994426 GRCh37: 8:41580711-41580711
GRCh38: 8:41723193-41723193
18 ANK1 NM_000037.4(ANK1):c.2389-1G>A SNV Pathogenic 994435 GRCh37: 8:41559141-41559141
GRCh38: 8:41701623-41701623
19 ANK1 NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) SNV Pathogenic 994135 GRCh37: 8:41561924-41561924
GRCh38: 8:41704406-41704406
20 ANK1 NM_000037.4(ANK1):c.1717del (p.Leu573fs) Deletion Pathogenic 973528 GRCh37: 8:41571757-41571757
GRCh38: 8:41714239-41714239
21 ANK1 NM_000037.4(ANK1):c.1801-17G>A SNV Pathogenic 513 rs786205243 GRCh37: 8:41566510-41566510
GRCh38: 8:41708992-41708992
22 ANK1 NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter) SNV Likely pathogenic 931545 GRCh37: 8:41530113-41530113
GRCh38: 8:41672595-41672595
23 ANK1 NM_000037.4(ANK1):c.4051del (p.Asp1351fs) Deletion Likely pathogenic 829941 rs1586114714 GRCh37: 8:41547798-41547798
GRCh38: 8:41690280-41690280
24 ANK1 NM_000037.4(ANK1):c.1A>G (p.Met1Val) SNV Likely pathogenic 544803 rs1554627073 GRCh37: 8:41655056-41655056
GRCh38: 8:41797538-41797538
25 ANK1 NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) SNV Conflicting interpretations of pathogenicity 812032 rs201024919 GRCh37: 8:41583392-41583392
GRCh38: 8:41725874-41725874
26 ANK1 NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) SNV Conflicting interpretations of pathogenicity 810949 rs142626656 GRCh37: 8:41575677-41575677
GRCh38: 8:41718159-41718159
27 ANK1 NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) SNV Conflicting interpretations of pathogenicity 261321 rs61735313 GRCh37: 8:41582031-41582031
GRCh38: 8:41724513-41724513
28 ANK1 NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) SNV Uncertain significance 811818 rs776721065 GRCh37: 8:41575150-41575150
GRCh38: 8:41717632-41717632
29 ANK1 NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) SNV Uncertain significance 810942 rs200263785 GRCh37: 8:41552208-41552208
GRCh38: 8:41694690-41694690
30 ANK1 NM_000037.4(ANK1):c.5479-17T>C SNV Uncertain significance 811146 rs142836307 GRCh37: 8:41519476-41519476
GRCh38: 8:41661958-41661958
31 ANK1 NM_000037.4(ANK1):c.5395-1162C>A SNV Uncertain significance 774881 rs145094714 GRCh37: 8:41522422-41522422
GRCh38: 8:41664904-41664904
32 ANK1 NM_000037.4(ANK1):c.344T>C (p.Leu115Pro) SNV Uncertain significance 811190 rs1586505238 GRCh37: 8:41584850-41584850
GRCh38: 8:41727332-41727332
33 ANK1 NM_000037.4(ANK1):c.3770G>A (p.Arg1257His) SNV Uncertain significance 811292 rs777970142 GRCh37: 8:41550254-41550254
GRCh38: 8:41692736-41692736
34 ANK1 NM_000037.4(ANK1):c.1998+5G>A SNV Uncertain significance 811440 rs946534987 GRCh37: 8:41566291-41566291
GRCh38: 8:41708773-41708773
35 ANK1 NM_000037.4(ANK1):c.2389-10C>T SNV Uncertain significance 763456 rs764935260 GRCh37: 8:41559150-41559150
GRCh38: 8:41701632-41701632
36 ANK1 NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) SNV Uncertain significance 362981 rs147232364 GRCh37: 8:41525803-41525803
GRCh38: 8:41668285-41668285
37 ANK1 NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) SNV Uncertain significance 363008 rs144821829 GRCh37: 8:41552155-41552155
GRCh38: 8:41694637-41694637
38 ANK1 NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) SNV Uncertain significance 363032 rs142010751 GRCh37: 8:41574538-41574538
GRCh38: 8:41717020-41717020
39 ANK1 NM_000037.4(ANK1):c.3533-10G>A SNV Uncertain significance 363002 rs374510116 GRCh37: 8:41550729-41550729
GRCh38: 8:41693211-41693211
40 ANK1 NM_000037.4(ANK1):c.4105-5T>G SNV Uncertain significance 911934 GRCh37: 8:41546112-41546112
GRCh38: 8:41688594-41688594
41 ANK1 NM_000037.4(ANK1):c.4104+12C>T SNV Uncertain significance 911935 GRCh37: 8:41547733-41547733
GRCh38: 8:41690215-41690215
42 ANK1 NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr) SNV Uncertain significance 911989 GRCh37: 8:41550315-41550315
GRCh38: 8:41692797-41692797
43 ANK1 NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln) SNV Uncertain significance 911990 GRCh37: 8:41550371-41550371
GRCh38: 8:41692853-41692853
44 ANK1 NM_000037.4(ANK1):c.1638C>T (p.Tyr546=) SNV Uncertain significance 912165 GRCh37: 8:41572557-41572557
GRCh38: 8:41715039-41715039
45 ANK1 NM_000037.4(ANK1):c.1230G>C (p.Val410=) SNV Uncertain significance 912235 GRCh37: 8:41575197-41575197
GRCh38: 8:41717679-41717679
46 ANK1 NM_000037.4(ANK1):c.875T>C (p.Leu292Pro) SNV Uncertain significance 912300 GRCh37: 8:41580677-41580677
GRCh38: 8:41723159-41723159
47 ANK1 NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) SNV Uncertain significance 363007 rs140964621 GRCh37: 8:41552149-41552149
GRCh38: 8:41694631-41694631
48 ANK1 NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) SNV Uncertain significance 736985 rs112677283 GRCh37: 8:41543719-41543719
GRCh38: 8:41686201-41686201
49 ANK1 NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) SNV Uncertain significance 719959 rs140085544 GRCh37: 8:41574488-41574488
GRCh38: 8:41716970-41716970
50 ANK1 NM_000037.4(ANK1):c.2835G>A (p.Ala945=) SNV Uncertain significance 363012 rs771079681 GRCh37: 8:41554006-41554006
GRCh38: 8:41696488-41696488

UniProtKB/Swiss-Prot genetic disease variations for Spherocytosis, Type 1:

72
# Symbol AA change Variation ID SNP ID
1 ANK1 p.Val463Ile VAR_000596 rs140085544
2 ANK1 p.Leu276Arg VAR_054991
3 ANK1 p.Ile1054Thr VAR_054992

Expression for Spherocytosis, Type 1

Search GEO for disease gene expression data for Spherocytosis, Type 1.

Pathways for Spherocytosis, Type 1

Pathways related to Spherocytosis, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 ST8SIA4 SPHK1 SNCAIP SFTPA2 RPS3A H2BC21

GO Terms for Spherocytosis, Type 1

Cellular components related to Spherocytosis, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleosome GO:0000786 8.8 H2BC21 H2AC18 H1-0

Biological processes related to Spherocytosis, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 defense response to bacterium GO:0042742 8.92 PGLYRP1 IGHV4-38-2 H2BC21 EPPIN

Sources for Spherocytosis, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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