SDDHD
MCID: SHR103
MIFTS: 29

Short Stature, Developmental Delay, and Congenital Heart Defects (SDDHD)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Short Stature, Developmental Delay, and Congenital Heart Defects

MalaCards integrated aliases for Short Stature, Developmental Delay, and Congenital Heart Defects:

Name: Short Stature, Developmental Delay, and Congenital Heart Defects 57 72 29 6
Transketolase Deficiency 57 58 72
Sddhd 57 72
Short Stature-Developmental Delay-Congenital Heart Defect Syndrome 58
Short Stature, Developmental Delay, Congenital Heart Defect 36
Tkt Deficiency 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
short stature, developmental delay, and congenital heart defects:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Short Stature, Developmental Delay, and Congenital Heart Defects

KEGG : 36 Short stature, developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme in the pentose phosphate pathway. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division and could explain the problems with growth.

MalaCards based summary : Short Stature, Developmental Delay, and Congenital Heart Defects, also known as transketolase deficiency, is related to inherited metabolic disorder and cataract. An important gene associated with Short Stature, Developmental Delay, and Congenital Heart Defects is TKT (Transketolase), and among its related pathways/superpathways is Pentose phosphate pathway. Affiliated tissues include heart and liver, and related phenotypes are global developmental delay and proportionate short stature

UniProtKB/Swiss-Prot : 72 Short stature, developmental delay, and congenital heart defects: An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients.

More information from OMIM: 617044

Related Diseases for Short Stature, Developmental Delay, and Congenital Heart Defects

Graphical network of the top 20 diseases related to Short Stature, Developmental Delay, and Congenital Heart Defects:



Diseases related to Short Stature, Developmental Delay, and Congenital Heart Defects

Symptoms & Phenotypes for Short Stature, Developmental Delay, and Congenital Heart Defects

Human phenotypes related to Short Stature, Developmental Delay, and Congenital Heart Defects:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 proportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003508
3 elevated circulating ribitol concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0025550
4 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
7 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Frequent (79-30%) HP:0007018
8 obsessive-compulsive behavior 58 31 occasional (7.5%) Frequent (79-30%) HP:0000722
9 uveitis 58 31 occasional (7.5%) Frequent (79-30%) HP:0000554
10 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
11 increased level of ribose in urine 58 31 frequent (33%) Frequent (79-30%) HP:0410072
12 hypotonia 31 frequent (33%) HP:0001252
13 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
14 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
15 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
16 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
17 type i diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100651
18 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
19 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
20 seborrheic dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001051
21 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
22 renal cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0000107
23 patent foramen ovale 58 31 occasional (7.5%) Occasional (29-5%) HP:0001655
24 abnormal coronary artery course 58 31 occasional (7.5%) Occasional (29-5%) HP:0011686
25 generalized hypotonia 31 occasional (7.5%) HP:0001290
26 intellectual disability 31 HP:0001249
27 muscular hypotonia 58 Frequent (79-30%)
28 delayed speech and language development 58 Frequent (79-30%)
29 atrial septal defect 58 Frequent (79-30%)
30 abnormal heart morphology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
hypotonia (in some patients)
delayed speech or nonverbal: developmental delay

Cardiovascular Vascular:
patent ductus arteriosus
anomalous coronary artery

Growth Height:
short stature, proportionate

Metabolic Features:
elevated erythritol in plasma and urine
elevated arabitol in plasma and urine
elevated ribitol in plasma and urine
reduced myoinositol in plasma

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale

Neurologic Behavioral Psychiatric Manifestations:
obsessive compulsive disorder (in some patients)
attention deficit hyperactivity disorder (in some patients)
stereotypic behavior (in 1 patient)
self-injurious behavior (in 1 patient)

Head And Neck Eyes:
uveitis (in some patients)
cataracts, juvenile (in some patients)
blepharoconjunctivitis (rare)

Clinical features from OMIM®:

617044 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short Stature, Developmental Delay, and Congenital Heart Defects

Search Clinical Trials , NIH Clinical Center for Short Stature, Developmental Delay, and Congenital Heart Defects

Genetic Tests for Short Stature, Developmental Delay, and Congenital Heart Defects

Genetic tests related to Short Stature, Developmental Delay, and Congenital Heart Defects:

# Genetic test Affiliating Genes
1 Short Stature, Developmental Delay, and Congenital Heart Defects 29 TKT

Anatomical Context for Short Stature, Developmental Delay, and Congenital Heart Defects

MalaCards organs/tissues related to Short Stature, Developmental Delay, and Congenital Heart Defects:

40
Heart, Liver

Publications for Short Stature, Developmental Delay, and Congenital Heart Defects

Articles related to Short Stature, Developmental Delay, and Congenital Heart Defects:

# Title Authors PMID Year
1
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. 6 57 61
27259054 2016
2
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. 61
32828637 2020
3
Transketolase Deficiency in Adipose Tissues Protects Mice From Diet-Induced Obesity by Promoting Lipolysis. 61
32295803 2020
4
Erythrocyte transketolase deficiency in patients suffering from Crohn's disease. 61
31646581 2019
5
Transketolase Deficiency Protects the Liver from DNA Damage by Increasing Levels of Ribose 5-Phosphate and Nucleotides. 61
31101762 2019

Variations for Short Stature, Developmental Delay, and Congenital Heart Defects

ClinVar genetic disease variations for Short Stature, Developmental Delay, and Congenital Heart Defects:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TKT NM_001064.4(TKT):c.952C>T (p.Arg318Cys) SNV Pathogenic 223091 rs782092363 GRCh37: 3:53264628-53264628
GRCh38: 3:53230612-53230612
2 TKT NM_001064.4(TKT):c.633G>A (p.Trp211Ter) SNV Pathogenic 223089 rs868953318 GRCh37: 3:53267287-53267287
GRCh38: 3:53233271-53233271
3 TKT NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG Insertion Pathogenic 243092 rs781905246 GRCh37: 3:53265545-53265546
GRCh38: 3:53231529-53231530
4 TKT NM_001064.4(TKT):c.1531dup (p.Thr511fs) Duplication Pathogenic 1033726 GRCh37: 3:53262113-53262114
GRCh38: 3:53228097-53228098
5 TKT NM_001064.4(TKT):c.1540G>A (p.Glu514Lys) SNV Uncertain significance 1033727 GRCh37: 3:53262105-53262105
GRCh38: 3:53228089-53228089
6 TKT NM_001064.4(TKT):c.541A>G (p.Ile181Val) SNV Uncertain significance 777965 rs17052920 GRCh37: 3:53269087-53269087
GRCh38: 3:53235071-53235071

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Developmental Delay, and Congenital Heart Defects:

72
# Symbol AA change Variation ID SNP ID
1 TKT p.Arg318Cys VAR_077030 rs782092363

Expression for Short Stature, Developmental Delay, and Congenital Heart Defects

Search GEO for disease gene expression data for Short Stature, Developmental Delay, and Congenital Heart Defects.

Pathways for Short Stature, Developmental Delay, and Congenital Heart Defects

Pathways related to Short Stature, Developmental Delay, and Congenital Heart Defects according to KEGG:

36
# Name Kegg Source Accession
1 Pentose phosphate pathway hsa00030

GO Terms for Short Stature, Developmental Delay, and Congenital Heart Defects

Sources for Short Stature, Developmental Delay, and Congenital Heart Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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