DHS2
MCID: DHY015
MIFTS: 23

Dehydrated Hereditary Stomatocytosis 2 (DHS2)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Dehydrated Hereditary Stomatocytosis 2

MalaCards integrated aliases for Dehydrated Hereditary Stomatocytosis 2:

Name: Dehydrated Hereditary Stomatocytosis 2 57 12 72 29 6
Desiccytosis Gardos 57 12 72
Xerocytosis Gardos 57 12 72
Dhs2 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity in symptoms among affected individuals within a family as well as among families with same mutation


HPO:

31
dehydrated hereditary stomatocytosis 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111577
OMIM® 57 616689
MeSH 44 D000745

Summaries for Dehydrated Hereditary Stomatocytosis 2

UniProtKB/Swiss-Prot : 72 Dehydrated hereditary stomatocytosis 2: An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur.

MalaCards based summary : Dehydrated Hereditary Stomatocytosis 2, is also known as desiccytosis gardos. An important gene associated with Dehydrated Hereditary Stomatocytosis 2 is KCNN4 (Potassium Calcium-Activated Channel Subfamily N Member 4). Affiliated tissues include spleen, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A dehydrated hereditary stomatocytosis that has material basis in heterozygous mutation in KCNN4 on chromosome 19q13.31.

OMIM® : 57 In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015). For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380). (616689) (Updated 05-Apr-2021)

Related Diseases for Dehydrated Hereditary Stomatocytosis 2

Symptoms & Phenotypes for Dehydrated Hereditary Stomatocytosis 2

Human phenotypes related to Dehydrated Hereditary Stomatocytosis 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 jaundice 31 HP:0000952
4 hemolytic anemia 31 HP:0001878
5 acanthocytosis 31 HP:0001927
6 reticulocytosis 31 HP:0001923
7 hyperbilirubinemia 31 HP:0002904
8 increased mean corpuscular volume 31 HP:0005518
9 anisopoikilocytosis 31 HP:0004823
10 increased mean corpuscular hemoglobin concentration 31 HP:0025548
11 bite cells 31 HP:0020122

Symptoms via clinical synopsis from OMIM®:

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

Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
hyperbilirubinemia

Abdomen Liver:
hepatomegaly

Hematology:
reticulocytosis
anisopoikilocytosis
bite cells
echinocytes
target cells
more
Abdomen Biliary Tract:
biliary lithiasis

Clinical features from OMIM®:

616689 (Updated 05-Apr-2021)

Drugs & Therapeutics for Dehydrated Hereditary Stomatocytosis 2

Search Clinical Trials , NIH Clinical Center for Dehydrated Hereditary Stomatocytosis 2

Genetic Tests for Dehydrated Hereditary Stomatocytosis 2

Genetic tests related to Dehydrated Hereditary Stomatocytosis 2:

# Genetic test Affiliating Genes
1 Dehydrated Hereditary Stomatocytosis 2 29 KCNN4

Anatomical Context for Dehydrated Hereditary Stomatocytosis 2

MalaCards organs/tissues related to Dehydrated Hereditary Stomatocytosis 2:

40
Spleen

Publications for Dehydrated Hereditary Stomatocytosis 2

Articles related to Dehydrated Hereditary Stomatocytosis 2:

# Title Authors PMID Year
1
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). 6 57
26178367 2015
2
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. 6 57
26198474 2015
3
A mutation in the Gardos channel is associated with hereditary xerocytosis. 6 57
26148990 2015
4
Passive cation transport in hereditary xerocytosis. 6 57
6473461 1984
5
Fragmentation and myelin formation in hereditary xerocytosis and other hemolytic anemias. 6 57
687829 1978
6
Membrane alterations in hereditary xerocytosis: elevated binding of glyceraldehyde-3-phosphate dehydrogenase. 6 57
652816 1978
7
Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. 6 57
4851153 1974
8
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. 57
11001917 2000
9
Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias. 61
29786897 2018

Variations for Dehydrated Hereditary Stomatocytosis 2

ClinVar genetic disease variations for Dehydrated Hereditary Stomatocytosis 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNN4 NM_002250.3(KCNN4):c.844G>A (p.Val282Met) SNV Pathogenic 372185 rs1057519076 GRCh37: 19:44273957-44273957
GRCh38: 19:43769805-43769805
2 KCNN4 NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) SNV Pathogenic 372186 rs1057519077 GRCh37: 19:44273956-44273956
GRCh38: 19:43769804-43769804
3 KCNN4 NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) SNV Pathogenic 252601 rs774455945 GRCh37: 19:44273179-44273179
GRCh38: 19:43769027-43769027

UniProtKB/Swiss-Prot genetic disease variations for Dehydrated Hereditary Stomatocytosis 2:

72
# Symbol AA change Variation ID SNP ID
1 KCNN4 p.Val282Glu VAR_074485 rs105751907
2 KCNN4 p.Val282Met VAR_074486 rs105751907
3 KCNN4 p.Arg352His VAR_074487 rs774455945

Expression for Dehydrated Hereditary Stomatocytosis 2

Search GEO for disease gene expression data for Dehydrated Hereditary Stomatocytosis 2.

Pathways for Dehydrated Hereditary Stomatocytosis 2

GO Terms for Dehydrated Hereditary Stomatocytosis 2

Sources for Dehydrated Hereditary Stomatocytosis 2

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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