LIKNS
MCID: LCH015
MIFTS: 26

Lichtenstein-Knorr Syndrome (LIKNS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lichtenstein-Knorr Syndrome

MalaCards integrated aliases for Lichtenstein-Knorr Syndrome:

Name: Lichtenstein-Knorr Syndrome 58 60 76 30 6 41 41
Scar19 58 60 76
Likns 58 76
Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome 60
Progressive Autosomal Recessive Ataxia-Deafness Syndrome 60
Spinocerebellar Ataxia, Autosomal Recessive 19; Scar19 58
Spinocerebellar Ataxia, Autosomal Recessive, 19 76
Spinocerebellar Ataxia, Autosomal Recessive 19 58
Autosomal Recessive Spinocerebellar Ataxia 19 12

Characteristics:

Orphanet epidemiological data:

60
progressive autosomal recessive ataxia-deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
variable onset, from infancy to young adulthood
three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015)


HPO:

33
lichtenstein-knorr syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080065
OMIM 58 616291
ICD10 via Orphanet 35 G11.1
Orphanet 60 ORPHA448251

Summaries for Lichtenstein-Knorr Syndrome

OMIM : 58 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). (616291)

MalaCards based summary : Lichtenstein-Knorr Syndrome, is also known as scar19. An important gene associated with Lichtenstein-Knorr Syndrome is SLC9A1 (Solute Carrier Family 9 Member A1). The drugs Interleukin-2 and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells and t cells, and related phenotypes are nystagmus and short stature

UniProtKB/Swiss-Prot : 76 Lichtenstein-Knorr syndrome: An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss.

Related Diseases for Lichtenstein-Knorr Syndrome

Symptoms & Phenotypes for Lichtenstein-Knorr Syndrome

Human phenotypes related to Lichtenstein-Knorr Syndrome:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 short stature 33 occasional (7.5%) HP:0004322
3 cerebellar atrophy 33 occasional (7.5%) HP:0001272
4 dysarthria 33 HP:0001260
5 gait ataxia 33 HP:0002066
6 limb ataxia 33 HP:0002070
7 dysmetria 33 HP:0001310
8 motor delay 33 HP:0001270
9 dysdiadochokinesis 33 HP:0002075
10 action tremor 33 HP:0002345

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
gait ataxia
limb ataxia
dysmetria
dysdiadochokinesis
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

Drugs & Therapeutics for Lichtenstein-Knorr Syndrome

Drugs for Lichtenstein-Knorr Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Interleukin-2 Phase 1, Phase 2
2 Peripheral Nervous System Agents Phase 1, Phase 2
3 Analgesics, Non-Narcotic Phase 1, Phase 2
4 Analgesics Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interleukin-2 Following 4SCAR19/22 T Cells Targeting Refractory and/or Recurrent B Cell Malignancies Recruiting NCT03098355 Phase 1, Phase 2 Interleukin-2
2 A Phase I/II Multiple Center Trial of 4SCAR19 Cells in the Treatment of Relapsed and Refractory B Cell Malignancies Recruiting NCT03050190 Phase 1, Phase 2
3 Combination CAR-T Cell Therapy Targeting Hematological Malignancies Recruiting NCT03125577 Phase 1, Phase 2
4 A Phase I Trial of 4SCAR19 Cells in the Treatment of Relapsed and Refractory B Cell Leukemia Recruiting NCT02968472 Phase 1

Search 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 30 SLC9A1

Anatomical Context for Lichtenstein-Knorr Syndrome

MalaCards organs/tissues related to Lichtenstein-Knorr Syndrome:

42
B Cells, T Cells

Publications for Lichtenstein-Knorr Syndrome

Articles related to Lichtenstein-Knorr Syndrome:

# Title Authors Year
1
Mutation of SLC9A1, encoding the major Na[?]/H[?] exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. ( 25205112 )
2015

Variations for Lichtenstein-Knorr Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 SLC9A1 p.Gly305Arg VAR_073439 rs786204831

ClinVar genetic disease variations for Lichtenstein-Knorr Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A1 NM_003047.4(SLC9A1): c.913G> A (p.Gly305Arg) single nucleotide variant Pathogenic rs786204831 GRCh37 Chromosome 1, 27436169: 27436169
2 SLC9A1 NM_003047.4(SLC9A1): c.913G> A (p.Gly305Arg) single nucleotide variant Pathogenic rs786204831 GRCh38 Chromosome 1, 27109678: 27109678

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

Sources for Lichtenstein-Knorr Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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