HSAN6
MCID: NRP038
MIFTS: 41
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Neuropathy, Hereditary Sensory and Autonomic, Type Vi (HSAN6)
Categories:
Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases
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MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Vi:
Characteristics:Orphanet epidemiological data:58
hereditary sensory and autonomic neuropathy type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012) death by age 2 years HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Skin diseases Respiratory diseases Cardiovascular diseases Gastrointestinal diseases Bone diseases Nephrological diseases Ear diseases Muscle diseases Smell/Taste diseases Oral diseases Mental diseases
ICD10:
32
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Neuropathy, hereditary sensory and autonomic, 6: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection.
MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Vi, also known as hsan6, is related to neuropathy and ataxia and polyneuropathy, adult-onset. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vi is DST (Dystonin). Affiliated tissues include tongue and smooth muscle, and related phenotypes are high palate and low-set ears Disease Ontology : 12 A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has material basis in homozygous mutation in the DST gene on chromosome 6p12. OMIM® : 57 Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400). (614653) (Updated 05-Mar-2021) |
Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:31 (show all 22)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:614653 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:40
Tongue,
Smooth Muscle
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Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi:
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ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Vi:6 (show top 50) (show all 993)
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GEO
for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type Vi.
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Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:
Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:
Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type Vi according to GeneCards Suite gene sharing:
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