KTZSL
MCID: KHL004
MIFTS: 13

Kohlschutter-Tonz Syndrome-Like (KTZSL)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kohlschutter-Tonz Syndrome-Like

MalaCards integrated aliases for Kohlschutter-Tonz Syndrome-Like:

Name: Kohlschutter-Tonz Syndrome-Like 57 6
Ktzsl 57

Classifications:



External Ids:

OMIM® 57 619229

Summaries for Kohlschutter-Tonz Syndrome-Like

OMIM® : 57 Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of KTZSL include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021). (619229) (Updated 05-Apr-2021)

MalaCards based summary : Kohlschutter-Tonz Syndrome-Like, also known as ktzsl, is related to kohlschutter-tonz syndrome. An important gene associated with Kohlschutter-Tonz Syndrome-Like is SATB1 (SATB Homeobox 1).

Related Diseases for Kohlschutter-Tonz Syndrome-Like

Diseases in the Kohlschutter-Tonz Syndrome family:

Kohlschutter-Tonz Syndrome-Like

Diseases related to Kohlschutter-Tonz Syndrome-Like via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kohlschutter-tonz syndrome 11.4

Symptoms & Phenotypes for Kohlschutter-Tonz Syndrome-Like

Clinical features from OMIM®:

619229 (Updated 05-Apr-2021)

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome-Like

Search Clinical Trials , NIH Clinical Center for Kohlschutter-Tonz Syndrome-Like

Genetic Tests for Kohlschutter-Tonz Syndrome-Like

Anatomical Context for Kohlschutter-Tonz Syndrome-Like

Publications for Kohlschutter-Tonz Syndrome-Like

Articles related to Kohlschutter-Tonz Syndrome-Like:

# Title Authors PMID Year
1
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. 6 57
33513338 2021
2
Kohlschutter syndrome in siblings. 6 57
15930900 2005

Variations for Kohlschutter-Tonz Syndrome-Like

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome-Like:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SATB1 NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys) SNV Pathogenic 1043590 GRCh37: 3:18393675-18393675
GRCh38: 3:18352183-18352183
2 SATB1 NM_002971.6(SATB1):c.1220A>G (p.Glu407Gly) SNV Pathogenic 1043593 GRCh37: 3:18428090-18428090
GRCh38: 3:18386598-18386598
3 SATB1 NM_002971.6(SATB1):c.1259A>G (p.Gln420Arg) SNV Pathogenic 985375 GRCh37: 3:18428051-18428051
GRCh38: 3:18386559-18386559
4 SATB1 NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg) SNV Pathogenic 1043595 GRCh37: 3:18419663-18419663
GRCh38: 3:18378171-18378171

Expression for Kohlschutter-Tonz Syndrome-Like

Search GEO for disease gene expression data for Kohlschutter-Tonz Syndrome-Like.

Pathways for Kohlschutter-Tonz Syndrome-Like

GO Terms for Kohlschutter-Tonz Syndrome-Like

Sources for Kohlschutter-Tonz Syndrome-Like

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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