Lichtenstein-Knorr Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁹

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616291

Disease Ontology ¹² DOID:0080065

Orphanet ⁵⁹ ORPHA448251

ICD10 via Orphanet ³⁴ G11.1

MedGen ⁴² C4225383 CN229337

MeSH ⁴⁴ D002524 D006319

SNOMED-CT via HPO ⁶⁹ 258211005 563001 8011004 more

Sources

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.

Sources

Related Diseases for Lichtenstein-Knorr Syndrome

Sources

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

Sources

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

Sources

Genetic Tests for Lichtenstein-Knorr Syndrome

Genetic tests related to Lichtenstein-Knorr Syndrome:

#	Genetic test	Affiliating Genes
1	Lichtenstein-Knorr Syndrome ²⁹	SLC9A1

Sources

Anatomical Context for Lichtenstein-Knorr Syndrome

MalaCards organs/tissues related to Lichtenstein-Knorr Syndrome:

⁴¹

B Cells, T Cells

Sources

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 )	Guissart C....Koenig M.	2015

Sources

Genes for Lichtenstein-Knorr Syndrome

Genes related to Lichtenstein-Knorr Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC9A1	Solute Carrier Family 9 Member A1	Protein Coding	1737.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Publications Variants (show sections)	25205112

Sources

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

Sources

Expression for Lichtenstein-Knorr Syndrome

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

Sources

Pathways for Lichtenstein-Knorr Syndrome

Sources

GO Terms for Lichtenstein-Knorr Syndrome

Sources

Sources for Lichtenstein-Knorr Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia