MCID: HRD218
MIFTS: 32

Hereditary Stomatocytosis

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Hereditary Stomatocytosis

MalaCards integrated aliases for Hereditary Stomatocytosis:

Name: Hereditary Stomatocytosis 58 36 29
Hereditary Stomatocytic Disease 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

KEGG 36 H00232
ICD10 via Orphanet 33 D58.8
UMLS via Orphanet 72 C1262483
Orphanet 58 ORPHA98365

Summaries for Hereditary Stomatocytosis

KEGG : 36 Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium.

MalaCards based summary : Hereditary Stomatocytosis, also known as hereditary stomatocytic disease, is related to overhydrated hereditary stomatocytosis and dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema. An important gene associated with Hereditary Stomatocytosis is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and O2/CO2 exchange in erythrocytes. Affiliated tissues include endothelial, bone marrow and bone, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 74 Hereditary stomatocytosis describes a number of inherited autosomal dominant human conditions which... more...

Related Diseases for Hereditary Stomatocytosis

Diseases related to Hereditary Stomatocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 overhydrated hereditary stomatocytosis 33.6 STOM SRI RHAG ANXA5
2 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 33.6 STOM SLC4A1 PIEZO1 KCNN4
3 cryohydrocytosis 30.4 STOM SLC4A1
4 hemolytic anemia 29.7 STOM SLC4A1 RHAG PIEZO1 KCNN4
5 hereditary spherocytosis 27.9 SRI SLC4A1 RHAG PIEZO1 ANXA5 ADD2
6 dehydrated hereditary stomatocytosis 2 12.8
7 pseudohyperkalemia, familial, 2, due to red cell leak 10.5
8 pulmonary hypertension 10.3
9 hemosiderosis 10.3
10 rare hereditary hemochromatosis 10.3
11 congenital hemolytic anemia 10.3
12 splenomegaly 10.3
13 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.2
14 chronic thromboembolic pulmonary hypertension 10.2
15 elliptocytosis 2 10.0
16 gilbert syndrome 10.0
17 hypertrophic neuropathy of dejerine-sottas 10.0
18 hemochromatosis, type 1 10.0
19 pyruvate kinase deficiency of red cells 10.0
20 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
21 stomatin-deficient cryohydrocytosis with neurologic defects 10.0
22 pseudohypoaldosteronism, type iid 10.0
23 elliptocytosis 3 10.0
24 deficiency anemia 10.0
25 cardiac arrest 10.0
26 thrombosis 10.0
27 charcot-marie-tooth disease 10.0
28 portal hypertension 10.0
29 portal vein thrombosis 10.0
30 cholestasis 10.0
31 neonatal jaundice 10.0
32 splenic infarction 10.0
33 cataract 10.0
34 diffuse idiopathic skeletal hyperostosis 10.0 ADD2 ADD1
35 retinohepatoendocrinologic syndrome 10.0 STOM RHAG KCNN4
36 actinomycosis 9.9 ADD2 ADD1
37 glutamate-cysteine ligase deficiency 9.8 SLC4A1 PIEZO1
38 commensal bacterial infectious disease 9.7 ADD2 ADD1
39 otopalatodigital syndrome spectrum disorder 9.6 SLC4A1 RHAG
40 metachromatic leukodystrophy 9.6 MPZ ADD2 ADD1
41 melnick-needles syndrome 9.6 SLC4A1 RHAG
42 hereditary elliptocytosis 8.6 STOM SLC4A1 RHAG PIEZO1 KCNN4 ADD2

Graphical network of the top 20 diseases related to Hereditary Stomatocytosis:



Diseases related to Hereditary Stomatocytosis

Symptoms & Phenotypes for Hereditary Stomatocytosis

MGI Mouse Phenotypes related to Hereditary Stomatocytosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 ADD1 ADD2 ANXA5 KCNN4 MPZ PIEZO1
2 homeostasis/metabolism MP:0005376 9.61 ADD1 ADD2 KCNN4 MPZ PIEZO1 RHAG
3 renal/urinary system MP:0005367 9.02 ADD2 KCNN4 PIEZO1 SLC40A1 SLC4A1

Drugs & Therapeutics for Hereditary Stomatocytosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Explananatory, Proof-of-concept Study of Senicapoc in Patients With Familial Dehydrated Stomatocytosis Caused by the V282M Mutation in the Gardos (KCNN4) Channel Not yet recruiting NCT04372498 Phase 1, Phase 2 Senicapoc (synonyms: ICA-17043; 2,2-bis-(4-fluorophenyl)-2-phenylacetamide)

Search NIH Clinical Center for Hereditary Stomatocytosis

Genetic Tests for Hereditary Stomatocytosis

Genetic tests related to Hereditary Stomatocytosis:

# Genetic test Affiliating Genes
1 Hereditary Stomatocytosis 29

Anatomical Context for Hereditary Stomatocytosis

MalaCards organs/tissues related to Hereditary Stomatocytosis:

40
Endothelial, Bone Marrow, Bone, Heart, Liver, Lung, Testes

Publications for Hereditary Stomatocytosis

Articles related to Hereditary Stomatocytosis:

(show top 50) (show all 159)
# Title Authors PMID Year
1
Inactive dimeric structure of the protease domain of stomatin operon partner protein. 61
32496213 2020
2
[A case of hereditary stomatocytosis with Gilbert syndrome and secondary hemochromatosis]. 61
32146752 2020
3
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway. 61
31737919 2020
4
Fluorescence microscopy of piezo1 in droplet hydrogel bilayers. 61
30885080 2019
5
Advances in understanding the pathogenesis of red cell membrane disorders. 61
31364155 2019
6
[Hereditary stomatocytosis with PIEZO1 gene mutations: report of five cases and literature review]. 61
31340627 2019
7
Dietary fatty acids fine-tune Piezo1 mechanical response. 61
30867417 2019
8
Dehydrated Hereditary Stomatocytosis Presenting as Severe Perinatal Ascites and Cholestasis. 61
29952828 2019
9
Dehydrated hereditary stomatocytosis: clinical perspectives. 61
31308777 2019
10
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells. 61
30930797 2019
11
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients. 61
30187933 2018
12
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis. 61
29969830 2018
13
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias. 61
29786897 2018
14
Hereditary stomatocytosis: an unusual cause of severe neonatal jaundice. 61
30310921 2018
15
Dehydrated hereditary stomatocytosis causing fetal hydrops and perinatal ascites. 61
29767406 2018
16
Dehydrated hereditary stomatocytosis: Prenatal management of ascites and pleural effusions. 61
29673682 2018
17
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis. 61
29191841 2018
18
Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? 61
29331020 2018
19
Importance of the Average Glucose Level and Estimated Glycated Hemoglobin in a Diabetic Patient with Hereditary Hemolytic Anemia and Liver Cirrhosis. 61
29225250 2018
20
Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients. 61
29755372 2018
21
Hereditary stomatocytosis: An underdiagnosed condition. 61
28971506 2018
22
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells. 61
29713289 2018
23
[Clinical features of hereditary stomatocytosis: 12 cases report and literatures review]. 61
28810338 2017
24
'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation. 61
28496185 2017
25
A Review of 7 Cases of Laparoscopic Cholecystectomy for Pediatric Cholecystolithiasis. 61
28904273 2017
26
New insights on hereditary erythrocyte membrane defects. 61
27756835 2016
27
A hypothesis of target cell formation in sickle cell disease. 61
27372866 2016
28
PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. 61
26971963 2016
29
Red blood cell-derived microparticles: An overview. 61
27282583 2016
30
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context. 61
27058983 2016
31
Dehydrated hereditary stomatocytosis. 61
26440377 2016
32
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). 61
26178367 2015
33
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. 61
26333996 2015
34
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. 61
26387913 2015
35
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. 61
25790109 2015
36
Dehydrated hereditary stomatocytosis masquerading as MDS. 61
25927085 2015
37
The structure of a conserved piezo channel domain reveals a topologically distinct β sandwich fold. 61
25242456 2014
38
Structural and biochemical analysis of a thermostable membrane-bound stomatin-specific protease. 61
24121343 2013
39
Rapid Cl⁻/HCO⁻₃exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells. 61
23842529 2013
40
Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis). 61
23972832 2013
41
Dehydrated hereditary stomatocytosis and recurrent prenatal ascites. 61
23815216 2013
42
Hereditary red cell membrane disorders and laboratory diagnostic testing. 61
23480868 2013
43
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 61
23479567 2013
44
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. 61
23695678 2013
45
SNPs altering ammonium transport activity of human Rhesus factors characterized by a yeast-based functional assay. 61
23967154 2013
46
Crystal structure of a membrane stomatin-specific protease in complex with a substrate peptide. 61
22475127 2012
47
Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells. 61
22012326 2012
48
Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis. 61
21859730 2011
49
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 61
21791420 2011
50
South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects. 61
21255002 2011

Variations for Hereditary Stomatocytosis

Expression for Hereditary Stomatocytosis

Search GEO for disease gene expression data for Hereditary Stomatocytosis.

Pathways for Hereditary Stomatocytosis

GO Terms for Hereditary Stomatocytosis

Cellular components related to Hereditary Stomatocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10 STOM SRI SLC4A1 SLC40A1 RHAG PIEZO1
2 integral component of plasma membrane GO:0005887 9.83 STOM SLC4A1 SLC40A1 RHAG MPZ
3 basolateral plasma membrane GO:0016323 9.58 SLC4A1 SLC40A1 MPZ
4 vesicle GO:0031982 9.5 STOM SRI KCNN4
5 cell GO:0005623 9.43 SRI SLC4A1 SLC40A1 RHAG KCNN4 ADD1
6 plasma membrane raft GO:0044853 9.37 ADD2 ADD1
7 plasma membrane GO:0005886 9.32 STOM SRI SLC4A1 SLC40A1 RHAG PIEZO1
8 F-actin capping protein complex GO:0008290 9.16 ADD2 ADD1

Biological processes related to Hereditary Stomatocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.71 SLC4A1 SLC40A1 PIEZO1 KCNN4
2 actin filament bundle assembly GO:0051017 9.43 ADD2 ADD1
3 bicarbonate transport GO:0015701 9.37 SLC4A1 RHAG
4 erythrocyte development GO:0048821 9.32 SLC4A1 RHAG
5 barbed-end actin filament capping GO:0051016 9.26 ADD2 ADD1
6 cell volume homeostasis GO:0006884 9.16 KCNN4 ADD1
7 multicellular organismal iron ion homeostasis GO:0060586 8.96 SLC40A1 RHAG
8 cellular ion homeostasis GO:0006873 8.62 SLC4A1 RHAG

Molecular functions related to Hereditary Stomatocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.62 STOM SLC4A1 ADD2 ADD1
2 calmodulin binding GO:0005516 9.43 KCNN4 ADD2 ADD1
3 spectrin binding GO:0030507 9.16 ADD2 ADD1
4 structural molecule activity GO:0005198 9.13 MPZ ADD2 ADD1
5 ankyrin binding GO:0030506 8.62 SLC4A1 RHAG

Sources for Hereditary Stomatocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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