SDCHCN
MCID: STM015
MIFTS: 26

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 58 76 30 6
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 58 76
Glut1 Deficiency Syndrome with Pseudohyperkalemia and Hemolysis 58 76
Sdchcn 58 76
Cryohydrocytosis, Stomatin-Deficient, with Neurologic Defects 41
Hereditary Cryohydrocytosis with Reduced Stomatin 60
Stomatin-Deficient Cryohydrocytosis 60
Hereditary Cryohydrocytosis Type 2 60
Chc Type 2 60
Sdchc 60

Characteristics:

Orphanet epidemiological data:

60
hereditary cryohydrocytosis with reduced stomatin
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
stomatin-deficient cryohydrocytosis with neurologic defects:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

OMIM : 58 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)

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 glut1 deficiency syndrome 1 and stomatocytosis i. An important gene associated with Stomatin-Deficient Cryohydrocytosis with Neurologic Defects is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 76 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 glut1 deficiency syndrome 1 11.5
2 stomatocytosis i 11.5
3 cryohydrocytosis 10.6

Symptoms & Phenotypes for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

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

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 spasticity 33 HP:0001257
6 hyperreflexia 33 HP:0001347
7 cataract 33 HP:0000518
8 global developmental delay 33 HP:0001263
9 splenomegaly 33 HP:0001744
10 hepatomegaly 33 HP:0002240
11 microcephaly 33 HP:0000252
12 short stature 33 HP:0004322
13 hemolytic anemia 33 HP:0001878
14 absent speech 33 HP:0001344
15 inability to walk 33 HP:0002540
16 jaundice 33 HP:0000952
17 hyperkalemia 33 HP:0002153
18 delayed myelination 33 HP:0012448
19 hypoglycorrhachia 33 HP:0011972

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
cataracts

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

Neurologic Central Nervous System:
seizures
hyperreflexia
hypertonia
mental retardation
delayed psychomotor development
more
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

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 30 SLC2A1

Anatomical Context for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

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

42
Brain

Publications for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Articles related to Stomatin-Deficient Cryohydrocytosis with Neurologic Defects:

# Title Authors Year
1
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. ( 21791420 )
2011
2
Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction. ( 15180870 )
2004

Variations for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

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

76
# Symbol AA change Variation ID SNP ID
1 SLC2A1 p.Gly286Asp VAR_076233 rs864309514

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.3(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 GRCh37 Chromosome 1, 43394661: 43394661
2 SLC2A1 NM_006516.3(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 GRCh38 Chromosome 1, 42928990: 42928990
3 SLC2A1 NM_006516.3(SLC2A1): c.857G> A (p.Gly286Asp) single nucleotide variant Pathogenic rs864309514 GRCh37 Chromosome 1, 43395274: 43395274
4 SLC2A1 NM_006516.3(SLC2A1): c.857G> A (p.Gly286Asp) single nucleotide variant Pathogenic rs864309514 GRCh38 Chromosome 1, 42929603: 42929603
5 SLC2A1 NM_006516.2(SLC2A1): c.1306_1308delATC (p.Ile436del) deletion Pathogenic rs864309522 GRCh37 Chromosome 1, 43392883: 43392885
6 SLC2A1 NM_006516.2(SLC2A1): c.1306_1308delATC (p.Ile436del) deletion Pathogenic rs864309522 GRCh38 Chromosome 1, 42927212: 42927214
7 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh37 Chromosome 1, 43396831: 43396831
8 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh38 Chromosome 1, 42931160: 42931160

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
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20 FMA
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33 HPO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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