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

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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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁶⁰

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080065

OMIM ⁵⁸ 616291

MeSH ⁴⁵ D002524 D006319

ICD10 via Orphanet ³⁵ G11.1

Orphanet ⁶⁰ ORPHA448251

MedGen ⁴³ C4225383 CN229337

SNOMED-CT via HPO ⁷⁰ 23133003 237836003 25136009 more

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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.

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Related Diseases for Lichtenstein-Knorr Syndrome

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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

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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

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Genetic Tests for Lichtenstein-Knorr Syndrome

Genetic tests related to Lichtenstein-Knorr Syndrome:

#	Genetic test	Affiliating Genes
1	Lichtenstein-Knorr Syndrome ³⁰	SLC9A1

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Anatomical Context for Lichtenstein-Knorr Syndrome

MalaCards organs/tissues related to Lichtenstein-Knorr Syndrome:

⁴²

B Cells, T Cells

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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

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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	1737.38	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)	25205112

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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

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Expression for Lichtenstein-Knorr Syndrome

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

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Pathways for Lichtenstein-Knorr Syndrome

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GO Terms for Lichtenstein-Knorr Syndrome

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Sources for Lichtenstein-Knorr Syndrome

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lichtenstein-Knorr Syndrome (LIKNS)

Aliases & Classifications for Lichtenstein-Knorr Syndrome

MalaCards integrated aliases for Lichtenstein-Knorr Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lichtenstein-Knorr Syndrome

Related Diseases for Lichtenstein-Knorr Syndrome

Symptoms & Phenotypes for Lichtenstein-Knorr Syndrome

Human phenotypes related to Lichtenstein-Knorr Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lichtenstein-Knorr Syndrome

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

Interventional clinical trials:

Genetic Tests for Lichtenstein-Knorr Syndrome

Genetic tests related to Lichtenstein-Knorr Syndrome:

Anatomical Context for Lichtenstein-Knorr Syndrome

MalaCards organs/tissues related to Lichtenstein-Knorr Syndrome:

Publications for Lichtenstein-Knorr Syndrome

Articles related to Lichtenstein-Knorr Syndrome:

Genes for Lichtenstein-Knorr Syndrome

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

Variations for Lichtenstein-Knorr Syndrome

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

ClinVar genetic disease variations for Lichtenstein-Knorr Syndrome:

Expression for Lichtenstein-Knorr Syndrome

Pathways for Lichtenstein-Knorr Syndrome

GO Terms for Lichtenstein-Knorr Syndrome

Sources for Lichtenstein-Knorr Syndrome