LIKNS
MCID: LCH015
MIFTS: 38

Lichtenstein-Knorr Syndrome (LIKNS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lichtenstein-Knorr Syndrome

MalaCards integrated aliases for Lichtenstein-Knorr Syndrome:

Name: Lichtenstein-Knorr Syndrome 57 11 58 73 28 5 38 38
Scar19 57 58 73
Autosomal Recessive Spinocerebellar Ataxia 19 11 14
Likns 57 73
Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome 58
Progressive Autosomal Recessive Ataxia-Deafness Syndrome 58
Spinocerebellar Ataxia, Autosomal Recessive, 19 73
Spinocerebellar Ataxia, Autosomal Recessive 19 57

Characteristics:


Inheritance:

Lichtenstein-Knorr Syndrome: Autosomal recessive 57
Progressive Autosomal Recessive Ataxia-Deafness Syndrome: Autosomal recessive 58

Prevelance:

Progressive Autosomal Recessive Ataxia-Deafness Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Progressive Autosomal Recessive Ataxia-Deafness Syndrome: Adolescent,Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
variable onset, from infancy to young adulthood
two chinese sibs with an slc9a1 mutation who did not have deafness have been reported (last curated may 2019)


HPO:

30
lichtenstein-knorr syndrome:
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080065
OMIM® 57 616291
OMIM Phenotypic Series 57 PS213200
ICD10 via Orphanet 32 G11.1
Orphanet 58 ORPHA448251

Summaries for Lichtenstein-Knorr Syndrome

Orphanet: 58 A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.

MalaCards based summary: Lichtenstein-Knorr Syndrome, also known as scar19, is related to aceruloplasminemia and sensorineural hearing loss. An important gene associated with Lichtenstein-Knorr Syndrome is SLC9A1 (Solute Carrier Family 9 Member A1). Affiliated tissues include brain, and related phenotypes are nystagmus and short stature

OMIM®: 57 Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015). Some patients with SLC9A1 mutations may not have deafness (Iwama et al., 2018) (616291) (Updated 08-Dec-2022)

Disease Ontology: 11 An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has material basis in homozygous mutation in the SLC9A1 gene on chromosome 1p36.

UniProtKB/Swiss-Prot: 73 An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss.

Related Diseases for Lichtenstein-Knorr Syndrome

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 10.2
2 sensorineural hearing loss 10.2
3 spastic ataxia, charlevoix-saguenay type 10.1 TTPA SACS
4 spastic paraplegia 7, autosomal recessive 10.1 TTPA SACS
5 spinocerebellar ataxia, autosomal recessive 8 10.1 TTPA SACS
6 tabes dorsalis 10.0 TTPA FXN
7 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.0 TTPA SACS
8 tertiary neurosyphilis 10.0 TTPA FXN
9 christianson syndrome 10.0 SLC9A9 SLC9A1
10 intellectual developmental disorder, x-linked, syndromic, billuart type 10.0 TTPA FXN
11 refsum disease, classic 10.0 TTPA SACS
12 huntington disease-like 2 9.9 TWNK FXN
13 ataxia with vitamin e deficiency 9.9 TTPA SACS FXN
14 hereditary spastic paraplegia 23 9.9 ZFYVE26 SACS
15 spinocerebellar ataxia 6 9.9 FXN CACNB4
16 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.9 TTPA SACS FXN
17 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.9 TTPA SACS FXN
18 autosomal recessive cerebellar ataxia 9.9 TTPA SACS FXN
19 fragile x-associated tremor/ataxia syndrome 9.9 TWNK FXN
20 dystonia 11, myoclonic 9.8 TTPA SLC9A9
21 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.8 TWNK TTPA SLC9A1 SACS
22 kearns-sayre syndrome 9.8 TWNK SACS FXN
23 giant axonal neuropathy 1, autosomal recessive 9.7 ZFYVE26 FXN
24 mitochondrial dna depletion syndrome 7 9.7 TWNK TTPA SACS FXN
25 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.7 TWNK TTPA SACS FXN
26 hereditary ataxia 9.7 TWNK TTPA SACS FXN
27 cerebellar disease 9.7 TWNK TTPA SACS FXN
28 autosomal dominant cerebellar ataxia 9.7 TWNK TTPA SACS FXN
29 hereditary spastic paraplegia 9.6 ZFYVE26 SACS FXN
30 3-methylglutaconic aciduria, type iii 9.5 TWNK SACS FXN
31 marinesco-sjogren syndrome 9.4 TWNK TTPA SACS FXN DNAJC3
32 mitochondrial complex iii deficiency, nuclear type 2 9.1 ZFYVE26 TWNK TTPA SLC9A1 SACS FXN
33 spastic ataxia 8.9 ZFYVE26 TWNK TTPA SACS FXN CHP1

Graphical network of the top 20 diseases related to Lichtenstein-Knorr Syndrome:



Diseases related to Lichtenstein-Knorr Syndrome

Symptoms & Phenotypes for Lichtenstein-Knorr Syndrome

Human phenotypes related to Lichtenstein-Knorr Syndrome:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Occasional (7.5%) HP:0000639
2 short stature 30 Occasional (7.5%) HP:0004322
3 cerebellar atrophy 30 Occasional (7.5%) HP:0001272
4 dysarthria 30 HP:0001260
5 motor delay 30 HP:0001270
6 dysmetria 30 HP:0001310
7 dysdiadochokinesis 30 HP:0002075
8 gait ataxia 30 HP:0002066
9 limb ataxia 30 HP:0002070
10 action tremor 30 HP:0002345

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
dysarthria
dysmetria
dysdiadochokinesis
gait ataxia
limb ataxia
more
Growth Height:
short stature (1 patient)

Neurologic Peripheral Nervous System:
areflexia, upper and lower limbs

Head And Neck Eyes:
nystagmus (in some patients)

Head And Neck Ears:
sensorineural deafness, postnatal, profound

Clinical features from OMIM®:

616291 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lichtenstein-Knorr Syndrome according to GeneCards Suite gene sharing:

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.8 CACNB4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.8 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.8 SACS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.8 FXN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.8 CACNB4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.8 FXN TTPA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-187 9.8 CACNB4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.8 FXN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.8 FXN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.8 SACS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.8 CACNB4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.8 SACS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.8 FXN TTPA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.8 SACS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.8 CACNB4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.8 TTPA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.8 CACNB4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.8 FXN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.8 CACNB4

MGI Mouse Phenotypes related to Lichtenstein-Knorr Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 CACNB4 CHP1 DNAJC3 FXN SACS SLC9A1
2 behavior/neurological MP:0005386 9.28 CACNB4 CHP1 DNAJC3 FXN SACS SLC9A1

Drugs & Therapeutics for Lichtenstein-Knorr Syndrome

Search Clinical Trials, NIH Clinical Center for Lichtenstein-Knorr Syndrome

Genetic Tests for Lichtenstein-Knorr Syndrome

Genetic tests related to Lichtenstein-Knorr Syndrome:

# Genetic test Affiliating Genes
1 Lichtenstein-Knorr Syndrome 28 SLC9A1

Anatomical Context for Lichtenstein-Knorr Syndrome

Organs/tissues related to Lichtenstein-Knorr Syndrome:

MalaCards : Brain

Publications for Lichtenstein-Knorr Syndrome

Articles related to Lichtenstein-Knorr Syndrome:

# Title Authors PMID Year
1
A novel SLC9A1 mutation causes cerebellar ataxia. 62 57 5
30018422 2018
2
Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. 62 57 5
25205112 2015
3
Hearing loss associated with progressive ataxia (Lichtenstein-Knorr disease?). Report of a sporadic case with peculiar neuroradiological findings. 57
2603781 1989
4
[Hereditary ataxia and deafness (Lichtenstein-Knorr disease): study of a family through 5 generations]. 57
3465984 1986
5
Clinical and CT-scan study of a case of cerebellar ataxia and progressive hearing loss: Lichtenstein-Knorr disease? 57
3739762 1986
6
Role of Genetic Mutations of the Na+/H+ Exchanger Isoform 1, in Human Disease and Protein Targeting and Activity. 62
33201382 2021

Variations for Lichtenstein-Knorr Syndrome

ClinVar genetic disease variations for Lichtenstein-Knorr Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC9A1 NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg) SNV Pathogenic
189315 rs786204831 GRCh37: 1:27436169-27436169
GRCh38: 1:27109678-27109678
2 SLC9A1 NM_003047.5(SLC9A1):c.862del (p.Ile288fs) DEL Pathogenic
978078 rs2083214834 GRCh37: 1:27436220-27436220
GRCh38: 1:27109729-27109729
3 SLC9A1 NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs) DUP Likely Pathogenic
1331440 GRCh37: 1:27436029-27436030
GRCh38: 1:27109538-27109539
4 SLC9A1 NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) SNV Uncertain Significance
638455 rs764274123 GRCh37: 1:27436226-27436226
GRCh38: 1:27109735-27109735
5 SLC9A1 NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=) SNV Uncertain Significance
1683602 GRCh37: 1:27428222-27428222
GRCh38: 1:27101731-27101731
6 SLC9A1 NM_003047.5(SLC9A1):c.*2A>G SNV Benign
1333120 GRCh37: 1:27426796-27426796
GRCh38: 1:27100305-27100305
7 SLC9A1 NM_003047.5(SLC9A1):c.2205A>G (p.Glu735=) SNV Benign
1333121 GRCh37: 1:27427041-27427041
GRCh38: 1:27100550-27100550
8 SLC9A1 NM_003047.5(SLC9A1):c.69T>C (p.Val23=) SNV Benign
1253772 GRCh37: 1:27480757-27480757
GRCh38: 1:27154266-27154266

UniProtKB/Swiss-Prot genetic disease variations for Lichtenstein-Knorr Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SLC9A1 p.Gly305Arg VAR_073439 rs786204831

Expression for Lichtenstein-Knorr Syndrome

Search GEO for disease gene expression data for Lichtenstein-Knorr Syndrome.

Pathways for Lichtenstein-Knorr Syndrome

GO Terms for Lichtenstein-Knorr Syndrome

Cellular components related to Lichtenstein-Knorr Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transporter complex GO:1990351 8.8 SLC9A1 CHP1

Biological processes related to Lichtenstein-Knorr Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.97 SLC9C2 SLC9A9 SLC9A1
2 proton transmembrane transport GO:1902600 9.95 SLC9C2 SLC9A9 SLC9A1
3 adult walking behavior GO:0007628 9.81 FXN CACNB4
4 sodium ion transmembrane transport GO:0035725 9.76 SLC9A9 SLC9A1 CHP1
5 monoatomic ion transport GO:0006811 9.76 SLC9C2 SLC9A9 SLC9A1 FXN CACNB4
6 cellular response to acidic pH GO:0071468 9.67 CHP1 SLC9A1
7 cellular response to cold GO:0070417 9.62 SLC9A1 DNAJC3
8 regulation of pH GO:0006885 9.61 SLC9A9 SLC9A1
9 sodium ion transport GO:0006814 9.58 SLC9C2 SLC9A9 SLC9A1
10 monoatomic cation transport GO:0006812 9.43 SLC9C2 SLC9A9 SLC9A1
11 sodium ion import across plasma membrane GO:0098719 9.43 SLC9C2 SLC9A9 SLC9A1
12 regulation of intracellular pH GO:0051453 9.23 SLC9C2 SLC9A9 SLC9A1 CHP1

Molecular functions related to Lichtenstein-Knorr Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium:proton antiporter activity GO:0015386 9.63 SLC9C2 SLC9A9 SLC9A1
2 protein kinase inhibitor activity GO:0004860 9.62 CHP1 DNAJC3
3 antiporter activity GO:0015297 9.43 SLC9C2 SLC9A9 SLC9A1
4 obsolete solute:proton antiporter activity GO:0015299 9.26 SLC9C2 SLC9A9 SLC9A1
5 sodium:proton antiporter activity GO:0015385 9.23 SLC9C2 SLC9A9 SLC9A1 CHP1

Sources for Lichtenstein-Knorr Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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