MCID: KHL003
MIFTS: 35

Kohlschutter-Tonz Syndrome

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

Aliases & Classifications for Kohlschutter-Tonz Syndrome

MalaCards integrated aliases for Kohlschutter-Tonz Syndrome:

Name: Kohlschutter-Tonz Syndrome 57 59 75 37 13 40
Kohlschutter Tonz Syndrome 53 73
Epilepsy and Yellow Teeth 57 53
Kohlschutter's Syndrome 29 6
Kohlschutter Syndrome 57 53
Dementia 44 73
Ktzs 57 75
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome 59
Epilepsy, Dementia, and Amelogenesis Imperfecta 57
Epilepsy Dementia Amelogenesis Imperfecta 53
Amelocerebrohypohidrotic Syndrome 59
Kohlschuetter-Toenz Syndrome 75
Presenile Dementia 73

Characteristics:

Orphanet epidemiological data:

59
amelocerebrohypohidrotic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,elderly,late childhood,young Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients may have normal development until onset of seizures in infancy
some patients show delayed development from birth
seizures are usually refractory at first
seizures may improve with age


HPO:

32
kohlschutter-tonz syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kohlschutter-Tonz Syndrome

OMIM : 57 Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012). (226750)

MalaCards based summary : Kohlschutter-Tonz Syndrome, also known as kohlschutter tonz syndrome, is related to amelogenesis imperfecta and dementia, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Kohlschutter-Tonz Syndrome is ROGDI (Rogdi Homolog). Affiliated tissues include skin, and related phenotypes are hydrocephalus and seizures

UniProtKB/Swiss-Prot : 75 Kohlschuetter-Toenz syndrome: An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1946Disease definitionKohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.Visit the Orphanet disease page for more resources.

Wikipedia : 76 Kohlschütter-Tönz syndrome (KTS), also called Amelo-cerebro-hypohidrotic syndrome is a rare inherited... more...

Related Diseases for Kohlschutter-Tonz Syndrome

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

# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta 10.3
2 dementia 10.3
3 epilepsy 10.3

Comorbidity relations with Kohlschutter-Tonz Syndrome via Phenotypic Disease Network (PDN):


Acute Cystitis Alzheimer Disease
Decubitus Ulcer Deficiency Anemia
Heart Disease Schizophreniform Disorder

Symptoms & Phenotypes for Kohlschutter-Tonz Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spasticity
hypertonia
cerebellar hypoplasia
more
Head And Neck Teeth:
enamel hypoplasia
amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
discolored teeth


Clinical features from OMIM:

226750

Human phenotypes related to Kohlschutter-Tonz Syndrome:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
5 developmental regression 59 32 occasional (7.5%) Very frequent (99-80%) HP:0002376
6 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
7 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
8 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
9 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
10 amelogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000705
11 yellow-brown discoloration of the teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006286
12 intellectual disability 32 HP:0001249
13 ataxia 32 HP:0001251
14 global developmental delay 32 occasional (7.5%) HP:0001263
15 ventriculomegaly 32 HP:0002119
16 cerebellar hypoplasia 32 HP:0001321
17 abnormality of dental enamel 59 Very frequent (99-80%)
18 mental deterioration 59 Very frequent (99-80%)
19 abnormality of dental color 59 Very frequent (99-80%)
20 cerebral atrophy 32 HP:0002059
21 hypsarrhythmia 32 HP:0002521
22 epileptic encephalopathy 32 HP:0200134
23 hypoplasia of dental enamel 32 HP:0006297

UMLS symptoms related to Kohlschutter-Tonz Syndrome:


ataxia, muscle spasticity, seizures, angina pectoris, back pain, headache, pain, sciatica, syncope, tremor, chronic pain, vertigo/dizziness, equilibration disorder, sleeplessness

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: dementia

Genetic Tests for Kohlschutter-Tonz Syndrome

Genetic tests related to Kohlschutter-Tonz Syndrome:

# Genetic test Affiliating Genes
1 Kohlschutter's Syndrome 29 ROGDI

Anatomical Context for Kohlschutter-Tonz Syndrome

MalaCards organs/tissues related to Kohlschutter-Tonz Syndrome:

41
Skin

Publications for Kohlschutter-Tonz Syndrome

Articles related to Kohlschutter-Tonz Syndrome:

# Title Authors Year
1
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. ( 29153277 )
2018
2
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel. ( 24630287 )
2014
3
Mutations in ROGDI cause Kohlschutter-Tonz syndrome. ( 22424600 )
2012
4
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. ( 22482807 )
2012

Variations for Kohlschutter-Tonz Syndrome

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

6
(show top 50) (show all 170)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROGDI NM_024589.2(ROGDI): c.229_230delCT (p.Leu77Alafs) deletion Pathogenic rs764899074 GRCh38 Chromosome 16, 4801292: 4801293
2 ROGDI NM_024589.2(ROGDI): c.229_230delCT (p.Leu77Alafs) deletion Pathogenic rs764899074 GRCh37 Chromosome 16, 4851293: 4851294
3 ROGDI NM_024589.2(ROGDI): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs387907145 GRCh37 Chromosome 16, 4850549: 4850549
4 ROGDI NM_024589.2(ROGDI): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs387907145 GRCh38 Chromosome 16, 4800548: 4800548
5 ROGDI NM_024589.2(ROGDI): c.531+5G> C single nucleotide variant Pathogenic rs749657986 GRCh38 Chromosome 16, 4798564: 4798564
6 ROGDI NM_024589.2(ROGDI): c.531+5G> C single nucleotide variant Pathogenic rs749657986 GRCh37 Chromosome 16, 4848565: 4848565
7 ROGDI NM_024589.2(ROGDI): c.532-2A> T single nucleotide variant Pathogenic rs786205119 GRCh38 Chromosome 16, 4798186: 4798186
8 ROGDI NM_024589.2(ROGDI): c.532-2A> T single nucleotide variant Pathogenic rs786205119 GRCh37 Chromosome 16, 4848187: 4848187
9 ROGDI NM_024589.2(ROGDI): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907146 GRCh37 Chromosome 16, 4848632: 4848632
10 ROGDI NM_024589.2(ROGDI): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907146 GRCh38 Chromosome 16, 4798631: 4798631
11 ROGDI NM_024589.2(ROGDI): c.507delC (p.Glu170Argfs) deletion Pathogenic rs786205124 GRCh38 Chromosome 16, 4798593: 4798593
12 ROGDI NM_024589.2(ROGDI): c.507delC (p.Glu170Argfs) deletion Pathogenic rs786205124 GRCh37 Chromosome 16, 4848594: 4848594
13 ROGDI NG_032174.1: g.5461_5468delGGCGGGGC deletion Pathogenic rs786205125 GRCh38 Chromosome 16, 4802483: 4802490
14 ROGDI NG_032174.1: g.5461_5468delGGCGGGGC deletion Pathogenic rs786205125 GRCh37 Chromosome 16, 4852484: 4852491
15 ROGDI NM_024589.2(ROGDI): c.783C> T (p.Phe261=) single nucleotide variant Conflicting interpretations of pathogenicity rs142481526 GRCh38 Chromosome 16, 4797753: 4797753
16 ROGDI NM_024589.2(ROGDI): c.783C> T (p.Phe261=) single nucleotide variant Conflicting interpretations of pathogenicity rs142481526 GRCh37 Chromosome 16, 4847754: 4847754
17 ROGDI NM_024589.2(ROGDI): c.243C> T (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs148051351 GRCh38 Chromosome 16, 4801279: 4801279
18 ROGDI NM_024589.2(ROGDI): c.243C> T (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs148051351 GRCh37 Chromosome 16, 4851280: 4851280
19 ROGDI NM_024589.2(ROGDI): c.646-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115660765 GRCh37 Chromosome 16, 4847993: 4847993
20 ROGDI NM_024589.2(ROGDI): c.646-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115660765 GRCh38 Chromosome 16, 4797992: 4797992
21 ROGDI NM_024589.2(ROGDI): c.433-15C> T single nucleotide variant Likely benign rs114103417 GRCh38 Chromosome 16, 4798682: 4798682
22 ROGDI NM_024589.2(ROGDI): c.433-15C> T single nucleotide variant Likely benign rs114103417 GRCh37 Chromosome 16, 4848683: 4848683
23 ROGDI NM_024589.2(ROGDI): c.393C> G (p.Asp131Glu) single nucleotide variant Benign/Likely benign rs143095485 GRCh38 Chromosome 16, 4799725: 4799725
24 ROGDI NM_024589.2(ROGDI): c.393C> G (p.Asp131Glu) single nucleotide variant Benign/Likely benign rs143095485 GRCh37 Chromosome 16, 4849726: 4849726
25 ROGDI NM_024589.2(ROGDI): c.*451C> G single nucleotide variant Uncertain significance rs886052034 GRCh37 Chromosome 16, 4847010: 4847010
26 ROGDI NM_024589.2(ROGDI): c.*451C> G single nucleotide variant Uncertain significance rs886052034 GRCh38 Chromosome 16, 4797009: 4797009
27 ROGDI NM_024589.2(ROGDI): c.*270T> C single nucleotide variant Uncertain significance rs76192577 GRCh37 Chromosome 16, 4847191: 4847191
28 ROGDI NM_024589.2(ROGDI): c.*270T> C single nucleotide variant Uncertain significance rs76192577 GRCh38 Chromosome 16, 4797190: 4797190
29 ROGDI NM_024589.2(ROGDI): c.*144G> A single nucleotide variant Benign rs7546 GRCh37 Chromosome 16, 4847317: 4847317
30 ROGDI NM_024589.2(ROGDI): c.*144G> A single nucleotide variant Benign rs7546 GRCh38 Chromosome 16, 4797316: 4797316
31 ROGDI NM_024589.2(ROGDI): c.713G> A (p.Arg238His) single nucleotide variant Conflicting interpretations of pathogenicity rs138409264 GRCh37 Chromosome 16, 4847824: 4847824
32 ROGDI NM_024589.2(ROGDI): c.713G> A (p.Arg238His) single nucleotide variant Conflicting interpretations of pathogenicity rs138409264 GRCh38 Chromosome 16, 4797823: 4797823
33 ROGDI NM_024589.2(ROGDI): c.567G> A (p.Leu189=) single nucleotide variant Conflicting interpretations of pathogenicity rs143000899 GRCh37 Chromosome 16, 4848150: 4848150
34 ROGDI NM_024589.2(ROGDI): c.567G> A (p.Leu189=) single nucleotide variant Conflicting interpretations of pathogenicity rs143000899 GRCh38 Chromosome 16, 4798149: 4798149
35 ROGDI NM_024589.2(ROGDI): c.522C> T (p.Ser174=) single nucleotide variant Conflicting interpretations of pathogenicity rs150687774 GRCh37 Chromosome 16, 4848579: 4848579
36 ROGDI NM_024589.2(ROGDI): c.522C> T (p.Ser174=) single nucleotide variant Conflicting interpretations of pathogenicity rs150687774 GRCh38 Chromosome 16, 4798578: 4798578
37 ROGDI NM_024589.2(ROGDI): c.*347G> T single nucleotide variant Uncertain significance rs117730440 GRCh37 Chromosome 16, 4847114: 4847114
38 ROGDI NM_024589.2(ROGDI): c.*347G> T single nucleotide variant Uncertain significance rs117730440 GRCh38 Chromosome 16, 4797113: 4797113
39 ROGDI NM_024589.2(ROGDI): c.822+14G> A single nucleotide variant Uncertain significance rs200558978 GRCh37 Chromosome 16, 4847701: 4847701
40 ROGDI NM_024589.2(ROGDI): c.822+14G> A single nucleotide variant Uncertain significance rs200558978 GRCh38 Chromosome 16, 4797700: 4797700
41 ROGDI NM_024589.2(ROGDI): c.175G> A (p.Glu59Lys) single nucleotide variant Uncertain significance rs2305659 GRCh37 Chromosome 16, 4851529: 4851529
42 ROGDI NM_024589.2(ROGDI): c.175G> A (p.Glu59Lys) single nucleotide variant Uncertain significance rs2305659 GRCh38 Chromosome 16, 4801528: 4801528
43 ROGDI NM_024589.2(ROGDI): c.-89G> T single nucleotide variant Uncertain significance rs538342367 GRCh38 Chromosome 16, 4802660: 4802660
44 ROGDI NM_024589.2(ROGDI): c.-89G> T single nucleotide variant Uncertain significance rs538342367 GRCh37 Chromosome 16, 4852661: 4852661
45 ROGDI NM_024589.2(ROGDI): c.-320C> G single nucleotide variant Benign rs17137286 GRCh38 Chromosome 16, 4802891: 4802891
46 ROGDI NM_024589.2(ROGDI): c.-320C> G single nucleotide variant Benign rs17137286 GRCh37 Chromosome 16, 4852892: 4852892
47 ROGDI NM_024589.2(ROGDI): c.-338C> T single nucleotide variant Uncertain significance rs757790008 GRCh38 Chromosome 16, 4802909: 4802909
48 ROGDI NM_024589.2(ROGDI): c.-338C> T single nucleotide variant Uncertain significance rs757790008 GRCh37 Chromosome 16, 4852910: 4852910
49 ROGDI NM_024589.2(ROGDI): c.-342C> A single nucleotide variant Uncertain significance rs886052041 GRCh38 Chromosome 16, 4802913: 4802913
50 ROGDI NM_024589.2(ROGDI): c.-342C> A single nucleotide variant Uncertain significance rs886052041 GRCh37 Chromosome 16, 4852914: 4852914

Expression for Kohlschutter-Tonz Syndrome

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

Pathways for Kohlschutter-Tonz Syndrome

GO Terms for Kohlschutter-Tonz Syndrome

Sources for Kohlschutter-Tonz Syndrome

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74 UMLS via Orphanet
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