Dehydrated hereditary stomatocytosis

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDOHYPERKALEMIA EDINBURGH
PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK
DESICCYTOSIS, HEREDITARY
XEROCYTOSIS, HEREDITARY
DEHYDRATED HEREDITARY STOMATOCYTOSIS
PSHK1
DHS
Hereditary xerocytosis
Number of Symptoms 30
OrphanetNr: 3202
OMIM Id: 194380
ICD-10: D58.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Stomatocytosis
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003641) Hemoglobinuria rare [HPO] 2 / 7739
2
(HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
3
(HPO:0001046) Intermittent jaundice 3 / 7739
4
(HPO:0012115) Hepatitis rare [HPO:skoehler] 24 / 7739
5
(HPO:0001744) Splenomegaly rare [HPO:skoehler] 337 / 7739
6
(HPO:0000952) Jaundice rare [HPO] 105 / 7739
7
(HPO:0001081) Cholelithiasis rare [HPO:skoehler] 36 / 7739
8
(HPO:0000980) Pallor rare [HPO] 52 / 7739
9
(HPO:0001923) Reticulocytosis 28 / 7739
10
(HPO:0004870) Chronic hemolytic anemia 6 / 7739
11
(HPO:0008269) Increased red cell hemolysis by shear stress 1 / 7739
12
(HPO:0005535) Exercise-induced hemolysis 1 / 7739
13
(HPO:0003281) Increased serum ferritin rare [HPO:skoehler] 32 / 7739
14
(OMIM) Ektacytometric osmotic gradient curve shifted to the left 1 / 7739
15
(OMIM) Hepatosiderosis 2 / 7739
16
(OMIM) Ascites, perinatal (in some patients) 1 / 7739
17
(OMIM) Scleral icterus (in some patients) 1 / 7739
18
(OMIM) Decreased serum haptoglobin 3 / 7739
19
(OMIM) Increased red blood cell membrane permeability to univalent cations 1 / 7739
20
(OMIM) Increased mean corpuscular hemoglobin concentration 1 / 7739
21
(OMIM) Stomatocytes (may be few in number) 1 / 7739
22
(OMIM) Thrombosis, susceptibility to (post-splenectomy patients) 1 / 7739
23
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
(OMIM) Edema, generalized perinatal (in some patients) 1 / 7739
25
(OMIM) Eccentrocytes (in some patients) 1 / 7739
26
(OMIM) Pericardial effusion, perinatal (rare) 1 / 7739
27
(OMIM) Increased serum bilirubin 4 / 7739
28
(OMIM) Pleural effusion, perinatal (rare) 1 / 7739
29
(OMIM) Pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients) 1 / 7739
30
(MedDRA:10025382) Macrocytosis 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary xerocytosis, also known as dehydrated hereditary stomatocytosis (DHS), is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain ...
Diagnosis OMIM Albuisson et al. (2013) noted that DHS is a difficult diagnosis to make because of highly variable clinical expression, ranging from the absence of clinical features to lethal perinatal edema. Although features of DHS can include severe iron ...
Clinical Description OMIM Miller et al. (1971) described a large kindred of Swiss-German origin with stomatocytosis, in which 3 affected sibs appeared to be homozygous whereas 50 other affected family members were heterozygous. The homozygotes had hemolytic anemia, decreased osmotic fragility, ...
Molecular genetics OMIM Using high-resolution SNP typing in a presumed homozygote from a family of Swiss-German origin segregating autosomal dominant stomatocytosis, originally reported by Miller et al. (1971), Zarychanski et al. (2012) identified a large region of homozygosity within the 16q24.2-qter ...