Transketolase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: SDDHD
Short stature, developmental delay, and congenital heart defects
TKT deficiency
Number of Symptoms 27
OrphanetNr:
OMIM Id: 617044
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases - PMID: 27259054 [IBIS]
Inheritance: Autosomal recessive
- PMID: 27259054 [IBIS]
Age of onset: Neonatal, Infancy
- PMID: 27259054 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
 (HPO:0004322) Short stature Very frequent [IBIS] 27259054 IBIS 1232 / 7739
2
 (HPO:0001263) Global developmental delay Very frequent [IBIS] 27259054 IBIS 853 / 7739
3
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [IBIS] 27259054 IBIS 355 / 7739
4
 (HPO:0000869) Secondary amenorrhea 27259054 IBIS 42 / 7739
5
 (HPO:0005562) Multiple renal cysts 27259054 IBIS 16 / 7739
6
 (HPO:0002240) Hepatomegaly 27259054 IBIS 467 / 7739
7
 (HPO:0012092) Abnormality of exocrine pancreas physiology 27259054 IBIS 9 / 7739
8
 (HPO:0000819) Diabetes mellitus 27259054 IBIS 131 / 7739
9
 (HPO:0001051) Seborrheic dermatitis 27259054 IBIS 25 / 7739
10
 (HPO:0002014) Diarrhea 27259054 IBIS 225 / 7739
11
 (HPO:0000365) Hearing impairment 27259054 IBIS 539 / 7739
12
 (HPO:0000722) Obsessive-compulsive behavior 27259054 IBIS 35 / 7739
13
 (HPO:0100716) Self-injurious behavior 27259054 IBIS 43 / 7739
14
 (HPO:0000733) Stereotypy 27259054 IBIS 58 / 7739
15
 (HPO:0007018) Attention deficit hyperactivity disorder 27259054 IBIS 56 / 7739
16
 (HPO:0012122) Anterior uveitis 27259054 IBIS 4 / 7739
17
 (HPO:0000486) Strabismus 27259054 IBIS 576 / 7739
18
 (HPO:0000554) Uveitis 27259054 IBIS 10 / 7739
19
 (HPO:0000509) Conjunctivitis 27259054 IBIS 47 / 7739
20
 (HPO:0000518) Cataract 27259054 IBIS 454 / 7739
21
 (HPO:0001643) Patent ductus arteriosus 27259054 IBIS 228 / 7739
22
 (HPO:0001655) Patent foramen ovale 27259054 IBIS 31 / 7739
23
 (HPO:0001631) Atria septal defect 27259054 IBIS 274 / 7739
24
 (HPO:0001629) Ventricular septal defect 27259054 IBIS 316 / 7739
25
 (HPO:0006704) Abnormality of the coronary arteries 27259054 IBIS 2 / 7739
26
 (HPO:0001344) Absent speech 27259054 IBIS 57 / 7739
27
 (HPO:0000750) Delayed speech and language development 27259054 IBIS 197 / 7739

Associated genes:

TKT;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: