ORPHA:79239
Classic galactosemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disorder of galactose metabolism characterized by onset of life-threatening disease triggered by breastfeeding or the ingestion of lactose/galactose-containing formula. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic galactosemia | |
| fr | Galactosémie classique | |
| de | Galaktosämie, klassische | |
| es | Galactosemia clásica | |
| it | Galattosemia classica | |
| nl | Klassieke galactosemie | |
| pt | Deficiência de galactose-1-fosfate uridiltransferase | |
| pl | Galaktozemia klasyczna | Galaktozemia typu 1 · Niedobór GALT · Niedobór urydylotransferazy galaktozo-1-fosforanowej |
| cs | Klasická galaktosémie | Deficit GALT · Deficit galaktóza-1-fosfát uridyltransferázy · Galaktosémie, typ 1 |
| uk | Класична галактоземія | Дефіцит галактозо-1-фосфат-уридилтрансферази · Галактоземія типу 1 · Дефіцит ГАЛТ |
| zh | 典型半乳糖血症 | 半乳糖-1-磷酸尿苷酰转移酶缺乏 |
| tr | Klasik galaktozemi | GALT eksikliği · Galaktozemi tip 1 · Galaktoz-1-fosfat üridiltransferaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230400 | E | validated | |
| ICD-10 | E74.2 | NTBT | attributed | validated |
| ICD-11 | 5C51.40 | E | specific | validated |
| MONDO | 0009258 | E | validated | |
| UMLS | C0268151 | E | validated | |
| GARD | 13639 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:723094Galactose-1-phosphate uridylyltransferase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare renal diseases; rare ophthalmic disorders - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:399853Rare female infertility due to an anomaly of ovarian function
rare infertility disorders - ORPHA:400022Rare female infertility due to an anomaly of ovarian function of genetic origin
rare genetic diseases - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GALT | Disease-causing germline mutation(s) in | Assessed | HGNC:4135 | ENSG00000213930 | 606999 | 9p13.3 | galactose-1-phosphate uridylyltransferase | 20301691[PMID] |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Netherlands | Value and class | Validated | 15841485[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | United Kingdom | Value and class | Validated | 8215542[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.3 / 100 000 | Ireland | Value and class | Validated | 8215542[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 / 100 000 | Japan | Value and class | Validated | 6468444[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 / 100 000 | China | Value and class | Validated | 10457302[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 20.8 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 23113108[PMID] |
| 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.
6
HPO phenotypes
54 annotations · validated 2021-01-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0030272 | Abnormal erythrocyte enzyme activity | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0003251 | Male infertility | |
| Frequent (79-30%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0002345 | Action tremor | |
| HP:0000518 | Cataract | |
| HP:0000868 | Decreased fertility in females | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0000823 | Delayed puberty | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0012537 | Food intolerance | |
| HP:0001263 | Global developmental delay | |
| HP:0006977 | Grammar-specific speech disorder | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000952 | Jaundice | |
| HP:0001268 | Mental deterioration | |
| HP:0000876 | Oligomenorrhea | |
| HP:0002174 | Postural tremor | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0001328 | Specific learning disability | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0011446 | Abnormality of higher mental function | |
| HP:0000739 | Anxiety | |
| HP:0001251 | Ataxia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0020110 | Bone fracture | |
| HP:0002312 | Clumsiness | |
| HP:0000028 | Cryptorchidism | |
| HP:0000716 | Depression | |
| HP:0002014 | Diarrhea | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0001298 | Encephalopathy | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0002141 | Gait imbalance | |
| HP:0001943 | Hypoglycemia | |
| HP:0002311 | Incoordination | |
| HP:0001254 | Lethargy | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0000939 | Osteoporosis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001250 | Seizure | |
| HP:0100806 | Sepsis | |
| HP:0011098 | Speech apraxia | |
| Very rare (<4-1%) | ||
| HP:0001541 | Ascites | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 31029175[PMID]_20301691[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79239
- This record as JSON: /data/d/79239.json