ORPHA:168577
Hereditary cryohydrocytosis with reduced stomatin
Synonyms: CHC type 2 · Hereditary cryohydrocytosis type 2 · Stomatin-deficient cryohydrocytosis · sdCHC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary cryohydrocytosis with reduced stomatin | CHC type 2 · Hereditary cryohydrocytosis type 2 · Stomatin-deficient cryohydrocytosis · sdCHC |
| fr | Cryohydrocytose héréditaire avec réduction de stomatine | CHC type 2 · Cryohydrocytose avec déficit en stomatine · Cryohydrocytose héréditaire type 2 · sdCHC |
| de | Kryohydrozytose mit reduziertem Stomatin, hereditäre Form | CHC Typ 2 · Hereditäre Kryohydrozytose Typ 2 · Kryohydrozytose vom Stomatin-Mangeltyp · sdCHC |
| es | Criohidrocitosis hereditaria con estomatina reducida | CHC tipo 2 · Criohidrocitosis deficiente en estomatina · Criohidrocitosis hereditaria tipo 2 · sdCHC |
| it | Crioidrocitosi ereditaria con riduzione della stomatina | CHC, tipo 2 · Crioidrocitosi con deficit di stomatina · Crioidrocitosi ereditaria, tipo 2 · sdCHC |
| nl | Erfelijke cryohydrocytose met verminderd stomatine | CHC type 2 · Erfelijke cryohydrocytose type 2 · Stomatinedeficiënte cryohydrocytose · sdCHC |
| pt | Criohidrocitose hereditária com estomatina reduzida | |
| pl | Dziedziczna kriohydrocytoza z obniżonym poziomem stomatyny | CHC typu 2 · Kriohydrocytoza dziedziczna typu 2 · Kriohydrocytoza z niedoborem stomatyny · sdCHC |
| cs | Dědičná kryohydrocytóza s redukovaným stomatinem | CHC typ 2 · Stomatin-deficientní kryohydrocytóza · sdCHC · Dědičná kryohydrocytóza, typ 2 |
| uk | Спадковий кріогідроцитоз зі зниженим вмістом стоматину | CHC типу 2 · Спадковий кріогідроцитоз типу 2 · sdCHC · Стоматин-дефіцитний кріогідроцитоз |
| zh | 遗传性口形红细胞增多 | 红细胞膜整合蛋白缺乏型冷水化红细胞增多症 |
| tr | Azaltılmış stomatin ile seyreden kalıtsal kriyohidrositoz | sdCHC · CHC tip 2 · Kalıtsal kriyohidrositoz tip 2 · Stomatin-eksikliği olan kriyohidrositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608885 | E | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0012143 | E | validated | |
| UMLS | C5190707 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98365Hereditary stomatocytosis
rare genetic diseases; rare hematological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11005 | ENSG00000117394 | 138140 | 1p34.2 | solute carrier family 2 member 1 | 21791420[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22492876[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22492876[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
32 annotations · validated 2019-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0001263 | Global developmental delay | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0011972 | Hypoglycorrhachia | |
| HP:0003575 | Increased intracellular sodium | |
| HP:0001249 | Intellectual disability | |
| HP:0000952 | Jaundice | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001250 | Seizure | |
| HP:0005525 | Spontaneous hemolytic crises | |
| HP:0004446 | Stomatocytosis | |
| Occasional (29-5%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0001156 | Brachydactyly | |
| HP:0000475 | Broad neck | |
| HP:0012430 | Cerebral white matter hypoplasia | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0012695 | Decreased thalamic volume | |
| HP:0012448 | Delayed myelination | |
| HP:0001276 | Hypertonia | |
| HP:0007229 | Intracerebral periventricular calcifications | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0002719 | Recurrent infections | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| HP:0001258 | Spastic paraplegia | |
| HP:0010920 | Zonular cataract | |
Annotation source: 7174793[PMID]_21791420[PMID]_15071792[PMID]_22492876[PMID]_15180870[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168577
- This record as JSON: /data/d/168577.json