SDCHCN
MCID: STM015
MIFTS: 30

Stomatin-Deficient Cryohydrocytosis with Neurologic Defects (SDCHCN)

Categories: Blood diseases, Genetic diseases, Liver diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

MalaCards integrated aliases for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:

Name: Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 57 72 29 6
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 57 72
Glut1 Deficiency Syndrome with Pseudohyperkalemia and Hemolysis 57 72
Sdchcn 57 72
Cryohydrocytosis, Stomatin-Deficient, with Neurologic Defects 39
Hereditary Cryohydrocytosis with Reduced Stomatin 58
Stomatin-Deficient Cryohydrocytosis 58
Hereditary Cryohydrocytosis Type 2 58
Chc Type 2 58
Sdchc 58

Characteristics:

Orphanet epidemiological data:

58
hereditary cryohydrocytosis with reduced stomatin
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
three unrelated patients have been reported (last curated december 2015)
possible favorable response to ketogenic diet


HPO:

31
stomatin-deficient cryohydrocytosis with neurologic defects:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare haematological diseases


Summaries for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

OMIM® : 57 Stomatin-deficient cryohydrocytosis with neurologic defects is an autosomal dominant disorder characterized by delayed psychomotor development, seizures, cataracts, and pseudohyperkalemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features of Glut1 deficiency syndrome-1 (GLUT1DS1; 606777), resulting from impaired glucose transport at the blood-brain barrier, and hemolytic anemia/pseudohyperkalemia with stomatocytosis, resulting from a cation leak in erythrocytes (summary by Bawazir et al., 2012). For a discussion of clinical and genetic heterogeneity of red cell stomatocyte disorders, see 194380. (608885) (Updated 20-May-2021)

MalaCards based summary : Stomatin-Deficient Cryohydrocytosis with Neurologic Defects, also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly, is related to overhydrated hereditary stomatocytosis and cryohydrocytosis. An important gene associated with Stomatin-Deficient Cryohydrocytosis with Neurologic Defects is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include liver, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 72 Stomatin-deficient cryohydrocytosis with neurologic defects: A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder.

Related Diseases for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Diseases related to Stomatin-Deficient Cryohydrocytosis with Neurologic Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 overhydrated hereditary stomatocytosis 11.4
2 cryohydrocytosis 10.4
3 cataract 10.4
4 hereditary stomatocytosis 10.4
5 hemolytic anemia 10.2
6 glucose transporter type 1 deficiency syndrome 10.2

Graphical network of the top 20 diseases related to Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:



Diseases related to Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Symptoms & Phenotypes for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Human phenotypes related to Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
4 jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0000952
5 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
6 stomatocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0004446
7 hypoglycorrhachia 58 31 frequent (33%) Frequent (79-30%) HP:0011972
8 increased intracellular sodium 58 31 frequent (33%) Frequent (79-30%) HP:0003575
9 spontaneous hemolytic crises 58 31 frequent (33%) Frequent (79-30%) HP:0005525
10 seizure 31 frequent (33%) HP:0001250
11 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
12 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
13 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
14 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
15 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
16 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
18 short thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0010306
19 abnormality of movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0100022
20 broad neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000475
21 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
22 spastic paraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001258
23 recurrent infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002719
24 conjugated hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002908
25 communicating hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001334
26 intracerebral periventricular calcifications 58 31 occasional (7.5%) Occasional (29-5%) HP:0007229
27 cerebral white matter hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012430
28 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
29 zonular cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0010920
30 decreased thalamic volume 58 31 occasional (7.5%) Occasional (29-5%) HP:0012695
31 cataract 58 31 Frequent (79-30%) HP:0000518
32 seizures 58 Frequent (79-30%)
33 spasticity 31 HP:0001257
34 hyperreflexia 31 HP:0001347
35 splenomegaly 31 HP:0001744
36 hepatomegaly 31 HP:0002240
37 hypertonia 58 Occasional (29-5%)
38 absent speech 31 HP:0001344
39 hemolytic anemia 31 HP:0001878
40 hyperkalemia 31 HP:0002153
41 inability to walk 31 HP:0002540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
hypertonia
hypoglycorrhachia
mental retardation
more
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Growth Other:
growth retardation

Laboratory Abnormalities:
increased serum bilirubin
in vitro hyperkalemia (pseudohyperkalemia) due to rupture of erythrocyte membranes

Head And Neck Eyes:
nystagmus
cataracts

Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
jaundice

Hematology:
echinocytes
hemolytic anemia, episodic
erythrocyte membrane instability
cryohydrocytosis
stomatocytes
more
Head And Neck Head:
microcephaly (patient c)

Clinical features from OMIM®:

608885 (Updated 20-May-2021)

Drugs & Therapeutics for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Search Clinical Trials , NIH Clinical Center for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Genetic Tests for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Genetic tests related to Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:

# Genetic test Affiliating Genes
1 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 29 SLC2A1

Anatomical Context for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

MalaCards organs/tissues related to Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:

40
Liver

Publications for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Articles related to Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:

# Title Authors PMID Year
1
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 57 6 61
21791420 2011
2
Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction. 57 6 61
15180870 2004
3
An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 6 57
22492876 2012
4
Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 6
25108116 2014
5
Missing band 7 membrane protein in two patients with high Na, low K erythrocytes. 57
7174793 1982
6
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells. 61
29713289 2018
7
Glucide metabolism disorders (excluding glycogen myopathies). 61
23622389 2013

Variations for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

ClinVar genetic disease variations for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A1 NM_006516.3(SLC2A1):c.1303_1305ATC[1] (p.Ile436del) Microsatellite Pathogenic 218334 rs864309522 GRCh37: 1:43392883-43392885
GRCh38: 1:42927212-42927214
2 SLC2A1 NM_006516.3(SLC2A1):c.857G>A (p.Gly286Asp) SNV Pathogenic 218333 rs864309514 GRCh37: 1:43395274-43395274
GRCh38: 1:42929603-42929603
3 SLC2A1 NM_006516.3(SLC2A1):c.161dup (p.Ser55fs) Duplication Pathogenic 619980 GRCh37: 1:43396830-43396831
GRCh38: 1:42931159-42931160
4 SLC2A1 NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) SNV Pathogenic 198842 rs80359825 GRCh37: 1:43394680-43394680
GRCh38: 1:42929009-42929009
5 SLC2A1 NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) SNV Pathogenic 207193 rs796053248 GRCh37: 1:43395556-43395556
GRCh38: 1:42929885-42929885
6 SLC2A1 NM_006516.3(SLC2A1):c.19-2A>G SNV Pathogenic 207225 rs796053272 GRCh37: 1:43408994-43408994
GRCh38: 1:42943323-42943323
7 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) SNV Pathogenic 207196 GRCh37: 1:43394689-43394689
GRCh38: 1:42929018-42929018
8 SLC2A1 NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) Duplication Pathogenic 973266 GRCh37: 1:43394648-43394649
GRCh38: 1:42928977-42928978
9 SLC2A1 NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) SNV Pathogenic/Likely pathogenic 16118 rs80359818 GRCh37: 1:43396437-43396437
GRCh38: 1:42930766-42930766
10 SLC2A1 NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) SNV Likely pathogenic 96708 rs13306758 GRCh37: 1:43392819-43392819
GRCh38: 1:42927148-42927148
11 SLC2A1 NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) SNV Uncertain significance 198843 rs141619735 GRCh37: 1:43394661-43394661
GRCh38: 1:42928990-42928990
12 SLC2A1 NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met) SNV Uncertain significance 406880 rs200828053 GRCh37: 1:43396804-43396804
GRCh38: 1:42931133-42931133
13 SLC2A1 NM_006516.3(SLC2A1):c.192C>G (p.Leu64=) SNV Uncertain significance 626018 rs762583668 GRCh37: 1:43396800-43396800
GRCh38: 1:42931129-42931129
14 SLC2A1 NM_006516.3(SLC2A1):c.75G>A (p.Gln25=) SNV Uncertain significance 626019 rs1557651193 GRCh37: 1:43408936-43408936
GRCh38: 1:42943265-42943265
15 SLC2A1 NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) SNV Uncertain significance 212203 rs75852730 GRCh37: 1:43392796-43392796
GRCh38: 1:42927125-42927125
16 SLC2A1 NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) SNV Uncertain significance 198843 rs141619735 GRCh37: 1:43394661-43394661
GRCh38: 1:42928990-42928990

UniProtKB/Swiss-Prot genetic disease variations for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:

72
# Symbol AA change Variation ID SNP ID
1 SLC2A1 p.Gly286Asp VAR_076233 rs864309514

Expression for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Search GEO for disease gene expression data for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects.

Pathways for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

GO Terms for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Sources for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
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69 Tocris
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71 UMLS via Orphanet
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