MCID: STM015
MIFTS: 26

Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Categories: Genetic diseases, Neuronal diseases, Blood diseases, Rare diseases, Liver diseases, Mental 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 75 29 6
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 57 75
Glut1 Deficiency Syndrome with Pseudohyperkalemia and Hemolysis 57 75
Sdchcn 57 75
Cryohydrocytosis, Stomatin-Deficient, with Neurologic Defects 40
Hereditary Cryohydrocytosis with Reduced Stomatin 59
Stomatin-Deficient Cryohydrocytosis 59
Hereditary Cryohydrocytosis Type 2 59
Chc Type 2 59
Sdchc 59

Characteristics:

Orphanet epidemiological data:

59
hereditary cryohydrocytosis with reduced stomatin
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 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)

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 stomatocytosis i and cryohydrocytosis. 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 : 75 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 stomatocytosis i 11.3
2 cryohydrocytosis 10.4

Symptoms & Phenotypes for Stomatin-Deficient Cryohydrocytosis with Neurologic Defects

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataracts

AbdomenSpleen:
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
hypoglycorrhachia
mental retardation
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

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 spasticity 32 HP:0001257
6 hyperreflexia 32 HP:0001347
7 cataract 32 HP:0000518
8 global developmental delay 32 HP:0001263
9 splenomegaly 32 HP:0001744
10 hepatomegaly 32 HP:0002240
11 microcephaly 32 HP:0000252
12 short stature 32 HP:0004322
13 hemolytic anemia 32 HP:0001878
14 absent speech 32 HP:0001344
15 inability to walk 32 HP:0002540
16 jaundice 32 HP:0000952
17 delayed myelination 32 HP:0012448
18 hypoglycorrhachia 32 HP:0011972

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:

41
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:

75
# 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_006516.2(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 GRCh37 Chromosome 1, 43394661: 43394661
2 SLC2A1 NM_006516.2(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 GRCh38 Chromosome 1, 42928990: 42928990
3 SLC2A1 NM_006516.2(SLC2A1): c.857G> A (p.Gly286Asp) single nucleotide variant Pathogenic rs864309514 GRCh37 Chromosome 1, 43395274: 43395274
4 SLC2A1 NM_006516.2(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

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

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