MCID: LCH015
MIFTS: 26

Lichtenstein-Knorr Syndrome

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

Aliases & Classifications for Lichtenstein-Knorr Syndrome

MalaCards integrated aliases for Lichtenstein-Knorr Syndrome:

Name: Lichtenstein-Knorr Syndrome 57 59 75 29 6 40 40
Scar19 57 59 75
Likns 57 75
Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome 59
Progressive Autosomal Recessive Ataxia-Deafness Syndrome 59
Spinocerebellar Ataxia, Autosomal Recessive 19; Scar19 57
Spinocerebellar Ataxia, Autosomal Recessive, 19 75
Spinocerebellar Ataxia, Autosomal Recessive 19 57
Autosomal Recessive Spinocerebellar Ataxia 19 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
lichtenstein-knorr syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616291
Disease Ontology 12 DOID:0080065
Orphanet 59 ORPHA448251
ICD10 via Orphanet 34 G11.1

Summaries for Lichtenstein-Knorr Syndrome

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). (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 Analgesics and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include b cells and t cells, and related phenotypes are nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lichtenstein-Knorr Syndrome:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 dysarthria 32 HP:0001260
3 motor delay 32 HP:0001270
4 cerebellar atrophy 32 occasional (7.5%) HP:0001272
5 dysmetria 32 HP:0001310
6 gait ataxia 32 HP:0002066
7 limb ataxia 32 HP:0002070
8 dysdiadochokinesis 32 HP:0002075
9 action tremor 32 HP:0002345
10 short stature 32 occasional (7.5%) HP:0004322

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 Analgesics Phase 1, Phase 2
2 Analgesics, Non-Narcotic Phase 1, Phase 2
3 Interleukin-2 Phase 1, Phase 2
4 Peripheral Nervous System Agents 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 29 SLC9A1

Anatomical Context for Lichtenstein-Knorr Syndrome

MalaCards organs/tissues related to Lichtenstein-Knorr Syndrome:

41
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:

75
# 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 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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