Transketolase deficiency
Synonyms: Short stature-developmental delay-congenital heart defect syndrome · TKT deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transketolase deficiency | Short stature-developmental delay-congenital heart defect syndrome · TKT deficiency |
| fr | Déficit en transketolase | Déficit en TKT · Syndrome de petite taille-retard de développement-cardiopathie congénitale |
| de | Transketolase-Mangel | Kleinwuchs-Entwicklungsverzögerung-kongenitaler Herzfehler-Syndrom · TK-Mangel |
| es | Deficiencia de transcetolasa | Deficiencia de TKT · Síndrome de talla baja-retraso del desarrollo-defectos cardíacos congénitos |
| it | Deficit di transchetolasi | |
| nl | Transketolasedeficiëntie | Kleine gestalte - ontwikkelingsachterstand - congenitaal hartdefect-syndroom · TKT-deficiëntie |
| pt | Défice de transcetolase | |
| pl | Niedobór transketolazy | = en |
| cs | Deficit transketolázy | Deficit TKT · Syndrom zahrnující malý vzrůst, opožděný vývoj a vrozenou srdeční vadu |
| uk | Дефіцит транскетолази | Синдром низькорослості - затримки розвитку - вродженої вади серця · Дефіцит ТКТ |
| zh | 转酮醇酶缺乏症 | 身材矮小-发育迟缓-先天性心脏缺陷综合症 |
| tr | Transketolaz eksikliği | TKT eksikliği · Kısa boy-gelişme geriliği-doğumsal kalp defekti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617044 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C51.0 | NTBT | attributed | validated |
| MONDO | 0014881 | E | validated | |
| UMLS | C1291328 | 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 (6):
- ORPHA:79186Disorder of pentose phosphate metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TKT | Disease-causing germline mutation(s) in | Assessed | HGNC:11834 | ENSG00000163931 | 606781 | 3p21.1 | transketolase | 27259054[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 27259054[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27259054[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.
HPO phenotypes
27 annotations · validated 2020-01-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0025550 | Elevated circulating ribitol concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0003508 | Proportionate short stature | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000518 | Cataract | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001252 | Hypotonia | |
| HP:0410072 | Increased level of ribose in urine | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000554 | Uveitis | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0011686 | Abnormal coronary artery course | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000509 | Conjunctivitis | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0000107 | Renal cyst | |
| HP:0001051 | Seborrheic dermatitis | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0100716 | Self-injurious behavior | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27259054[PMID}
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488618
- This record as JSON: /data/d/488618.json