Galactokinase deficiency
Synonyms: GALK deficiency · GALK deficiency galactosemia · Galactokinase deficiency galactosemia · Galactosemia type II · Type 2 galactosemia · Type II galactosemia · Galactosemia type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, although neonatal elevation of transaminases, bleeding diathesis and encephalopathy might be present in addition to cataract.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Galactokinase deficiency | GALK deficiency · GALK deficiency galactosemia · Galactokinase deficiency galactosemia · Galactosemia type II · Type 2 galactosemia · Type II galactosemia · Galactosemia type 2 |
| fr | Déficit en galactokinase | Déficit en GALK · Galactosémie de type 2 · Galactosémie de type II · Galactosémie par déficit en GALK · Galactosémie par déficit en galactokinase |
| de | Galaktokinase-Mangel | Galaktosämie Typ II · Galaktokinase-Defizienz · GALK-Mangel · Galaktokinase-Mangel, galaktosämischer · Galaktosämie Typ 2 |
| es | Deficiencia de galactoquinasa | Galactosemia por deficiencia de GALK · Galactosemia tipo II · Deficiencia de GALK · Galactosemia por deficiencia de galactoquinasa · Galactosemia tipo 2 |
| it | Deficit di galattochinasi | Galattosemia da deficit di GALK · Deficit di GALK · Galattosemia da deficit di galattochinasi · Galattosemia tipo 2 · Galattosemia tipo II |
| nl | Deficiëntie van galactokinase | Galactosemie type 2 · Type II galactosemie · Type 2 galactosemie · GALK-deficiëntie · Galactosemie door GALK-deficiëntie · Galactosemie door deficiëntie van galactokinase · Galactosemie type II |
| pt | Deficiência de galactocinase | |
| pl | Niedobór galaktokinazy | Galaktozemia typu 2 · Galaktozemia z niedoboru galaktokinazy · GALK-D · Niedobór GALK |
| cs | Deficit galaktokinázy | Deficit GALK · GALK-D · Galaktosémie, typ 2 · Galaktosémie způsobená deficitem galaktokinázy |
| uk | Дефіцит галактокінази | Галактоземія галактокінази · Галактоземія 2 типу · Дефіцит ГАЛК · GALK-D |
| zh | 半乳糖激酶缺乏症 | 半乳糖激酶缺乏性半乳糖血症 |
| tr | Galaktokinaz eksikliği | GALK-D · GALK eksikliği · Galaktozemi tip 2 · Galaktokinaz eksikliği galaktozemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230200 | E | validated | |
| ICD-10 | E74.2 | NTBT | attributed | validated |
| ICD-11 | 5C51.41 | E | specific | validated |
| MONDO | 0009255 | E | validated | |
| UMLS | C0268155 | E | validated | |
| GARD | 2422 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:352Galactosemia
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GALK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4118 | ENSG00000108479 | 604313 | 17q25.1 | galactokinase 1 | 10521295[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2021-01-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0012024 | Hypergalactosemia | |
| HP:0410061 | Increased level of galactitol in plasma | |
| HP:0410062 | Increased level of galactitol in urine | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0100018 | Nuclear cataract | |
| Occasional (29-5%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0001518 | Small for gestational age | |
| HP:0011098 | Speech apraxia | |
| Very rare (<4-1%) | ||
| HP:0004431 | Complement deficiency | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0000252 | Microcephaly | |
| HP:0012768 | Neonatal asphyxia | |
| HP:0001622 | Premature birth | |
| HP:0002361 | Psychomotor deterioration | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 31575690[PMID]_32809518[PMID]_12705493[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79237
- This record as JSON: /data/d/79237.json