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LIKNS
MCID: LCH015
MIFTS: 38
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Lichtenstein-Knorr Syndrome (LIKNS)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lichtenstein-Knorr Syndrome:
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:30Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Ear diseases Neuronal diseases
ICD10:
32
Orphanet: 58
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis |
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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. |
Human phenotypes related to Lichtenstein-Knorr Syndrome:30 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)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)
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Organs/tissues related to Lichtenstein-Knorr Syndrome:
MalaCards :
Brain
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Articles related to Lichtenstein-Knorr Syndrome:
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Genes related to Lichtenstein-Knorr Syndrome (1 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lichtenstein-Knorr Syndrome:5
UniProtKB/Swiss-Prot genetic disease variations for Lichtenstein-Knorr Syndrome:73
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Search
GEO
for disease gene expression data for Lichtenstein-Knorr Syndrome.
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Cellular components related to Lichtenstein-Knorr Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Lichtenstein-Knorr Syndrome according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Lichtenstein-Knorr Syndrome according to GeneCards Suite gene sharing:
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