MCID: DHY015
MIFTS: 20

Dehydrated Hereditary Stomatocytosis 2

Categories: Genetic diseases

Aliases & Classifications for Dehydrated Hereditary Stomatocytosis 2

MalaCards integrated aliases for Dehydrated Hereditary Stomatocytosis 2:

Name: Dehydrated Hereditary Stomatocytosis 2 57 75 29 6
Desiccytosis Gardos 57 75
Xerocytosis Gardos 57 75
Dhs2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
dehydrated hereditary stomatocytosis 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dehydrated Hereditary Stomatocytosis 2

UniProtKB/Swiss-Prot : 75 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 heart, and related phenotypes are jaundice and splenomegaly

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)

Related Diseases for Dehydrated Hereditary Stomatocytosis 2

Symptoms & Phenotypes for Dehydrated Hereditary Stomatocytosis 2

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
hyperbilirubinemia

Abdomen Liver:
hepatomegaly

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


Clinical features from OMIM:

616689

Human phenotypes related to Dehydrated Hereditary Stomatocytosis 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 splenomegaly 32 HP:0001744
3 hemolytic anemia 32 HP:0001878
4 reticulocytosis 32 HP:0001923
5 acanthocytosis 32 HP:0001927
6 hepatomegaly 32 HP:0002240
7 hyperbilirubinemia 32 HP:0002904
8 anisopoikilocytosis 32 HP:0004823
9 increased mean corpuscular volume 32 HP:0005518

Drugs & Therapeutics for Dehydrated Hereditary Stomatocytosis 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dallas Heart Study 2: Return Clinic Visit for the Dallas Heart Study Cohort Completed NCT00344903

Search 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:

41
Spleen, Heart

Publications for Dehydrated Hereditary Stomatocytosis 2

Variations for Dehydrated Hereditary Stomatocytosis 2

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

75
# Symbol AA change Variation ID SNP ID
1 KCNN4 p.Val282Glu VAR_074485 rs1057519077Dehydrated
2 KCNN4 p.Val282Met VAR_074486 rs1057519076Dehydrated
3 KCNN4 p.Arg352His VAR_074487 rs774455945

ClinVar genetic disease variations for Dehydrated Hereditary Stomatocytosis 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNN4 NM_002250.2(KCNN4): c.1055G> A (p.Arg352His) single nucleotide variant Pathogenic rs774455945 GRCh37 Chromosome 19, 44273179: 44273179
2 KCNN4 NM_002250.2(KCNN4): c.1055G> A (p.Arg352His) single nucleotide variant Pathogenic rs774455945 GRCh38 Chromosome 19, 43769027: 43769027
3 KCNN4 NM_002250.2(KCNN4): c.844G> A (p.Val282Met) single nucleotide variant Pathogenic rs1057519076 GRCh38 Chromosome 19, 43769805: 43769805
4 KCNN4 NM_002250.2(KCNN4): c.844G> A (p.Val282Met) single nucleotide variant Pathogenic rs1057519076 GRCh37 Chromosome 19, 44273957: 44273957
5 KCNN4 NM_002250.2(KCNN4): c.845T> A (p.Val282Glu) single nucleotide variant Pathogenic rs1057519077 GRCh38 Chromosome 19, 43769804: 43769804
6 KCNN4 NM_002250.2(KCNN4): c.845T> A (p.Val282Glu) single nucleotide variant Pathogenic rs1057519077 GRCh37 Chromosome 19, 44273956: 44273956

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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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
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