MCID: SHR103
MIFTS: 26

Short Stature, Developmental Delay, and Congenital Heart Defects

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Metabolic diseases, Fetal 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 75 29 6
Sddhd 57 75
Short Stature-Developmental Delay-Congenital Heart Defect Syndrome 59
Transketolase Deficiency 59
Tkt Deficiency 59
Transketolase 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
short stature, developmental delay, and congenital heart defects:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Short Stature, Developmental Delay, and Congenital Heart Defects, also known as sddhd, is related to wernicke-korsakoff syndrome and beriberi. An important gene associated with Short Stature, Developmental Delay, and Congenital Heart Defects is TKT (Transketolase). Affiliated tissues include heart, and related phenotypes are uveitis and obsessive-compulsive behavior

Description from OMIM: 617044

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

Diseases related to Short Stature, Developmental Delay, and Congenital Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 wernicke-korsakoff syndrome 11.4
2 beriberi 10.0
3 neuropathy 10.0
4 colorectal cancer 9.9
5 lung cancer 9.9
6 uremic neuropathy 9.9
7 thyroiditis 9.9
8 alzheimer disease 9.8
9 ovarian cancer 9.8
10 small cell cancer of the lung 9.8
11 nasopharyngeal carcinoma 9.8
12 nasopharyngitis 9.8
13 squamous cell carcinoma 9.8
14 thyroid cancer 9.8
15 bladder cancer 9.7
16 breast cancer 9.7
17 multiple sclerosis 9.7
18 rheumatoid arthritis 9.7
19 thyroid cancer, nonmedullary, 1 9.7
20 aging 9.7
21 endometrial cancer 9.7
22 microvascular complications of diabetes 3 9.7
23 microvascular complications of diabetes 4 9.7
24 microvascular complications of diabetes 6 9.7
25 microvascular complications of diabetes 7 9.7
26 gastric cancer 9.7
27 arthritis 9.7
28 oral squamous cell carcinoma 9.7
29 heart disease 9.7
30 protein-energy malnutrition 9.7
31 polyneuropathy 9.7
32 alcoholic neuropathy 9.7
33 melanoma 9.7
34 cervicitis 9.7
35 laryngitis 9.7
36 peritonitis 9.7
37 type i 9.7
38 anaplastic thyroid cancer 9.7
39 glioblastoma 9.7
40 glioma 9.7
41 hypoxia 9.7
42 differentiated thyroid carcinoma 9.7

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

Symptoms via clinical synopsis from OMIM:

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

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

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

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 Vascular:
patent ductus arteriosus
anomalous coronary artery

Growth Height:
short stature, proportionate

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


Clinical features from OMIM:

617044

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 uveitis 32 occasional (7.5%) HP:0000554
2 obsessive-compulsive behavior 32 occasional (7.5%) HP:0000722
3 stereotypy 32 HP:0000733
4 intellectual disability 32 HP:0001249
5 generalized hypotonia 32 occasional (7.5%) HP:0001290
6 ventricular septal defect 32 HP:0001629
7 patent ductus arteriosus 32 HP:0001643
8 patent foramen ovale 32 HP:0001655
9 proportionate short stature 32 HP:0003508
10 attention deficit hyperactivity disorder 32 occasional (7.5%) HP:0007018
11 self-injurious behavior 32 HP:0100716

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:

41
Heart

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

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

# Title Authors Year
1
Mutations in TKT are the cause of a syndrome including short stature, developmental delay, and congenital heart defects. ( 27259054 )
2016

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

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

75
# Symbol AA change Variation ID SNP ID
1 TKT p.Arg318Cys VAR_077030 rs782092363

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TKT NM_001135055.2(TKT): c.952C> T (p.Arg318Cys) single nucleotide variant Pathogenic rs782092363 GRCh38 Chromosome 3, 53230612: 53230612
2 TKT NM_001135055.2(TKT): c.952C> T (p.Arg318Cys) single nucleotide variant Pathogenic rs782092363 GRCh37 Chromosome 3, 53264628: 53264628
3 TKT NM_001135055.2(TKT): c.633G> A (p.Trp211Ter) single nucleotide variant Pathogenic rs868953318 GRCh37 Chromosome 3, 53267287: 53267287
4 TKT NM_001135055.2(TKT): c.633G> A (p.Trp211Ter) single nucleotide variant Pathogenic rs868953318 GRCh38 Chromosome 3, 53233271: 53233271
5 TKT NM_001135055.2(TKT): c.769_770ins18 (p.?) insertion Pathogenic rs869312975 GRCh37 Chromosome 3, 53265545: 53265546
6 TKT NM_001135055.2(TKT): c.769_770ins18 (p.?) insertion Pathogenic rs869312975 GRCh38 Chromosome 3, 53231529: 53231530

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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