Neuropathy, Hereditary Sensory and Autonomic, Type Vi (HSAN6)

External Ids:

Disease Ontology 12 DOID:0070151 OMIM 56 614653 OMIM Phenotypic Series 56 PS162400 MeSH 43 D009477 ICD10 32 G60.8

ICD10 via Orphanet 33 G60.8 Orphanet 58 ORPHA314381 MedGen 41 C3539003 CN125065 SNOMED-CT via HPO 68 1023001 161857006 203598005 205294008 248583008 249808002 253215004 258211005 262016004 27272007 276617005 312230002 3424008 349006 364538006 37280007 385522000 386661006 397932003 409623005 415690000 415691001 444896005 48867003 50177009 52613005 55033002 57048009 59576002 699439001 78164000 7890003 86651002 88565003 95515009 95662005 95726001 more UMLS 71 C3539003

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 autonomic neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Vi is DST (Dystonin). Affiliated tissues include skin, 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 : ⁵⁶ 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)

Clinical features from OMIM:

614653

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Vi

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type Vi.