... and/or parental consanguinity Establishing the Diagnosis The diagnosis of NTRK1 congenital insensitivity to pain with anhidrosis ( NTRK1 -CIPA) is established in a proband with ...

... untreated phenylketonuria . Management No clinical practice guidelines for hereditary sensory and autonomic neuropathy type II (HSAN2) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...

... associated with heterozygous pathogenic variants in DNMT1. Differential Diagnosis Autosomal dominant hereditary sensory and autonomic neuropathies are genetically heterogeneous, but hereditary sensory and autonomic ...

... febrile seizures plus; GOF = gain of function; HSAN = hereditary sensory and autonomic neuropathy; LOF = loss of function Differential Diagnosis Erythromelalgia The differential diagnosis of SCN9A erythromelalgia ( SCN9A - ...

... 3. Sensory and Autonomic Neuropathies in the Differential Diagnosis of TECPR2- Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability View in own window Gene ...

... observed in 22/28 Israeli affected individuals with congenital insensitivity to pain and anhidrosis ... the Clinical Diagnosis of Congenital Insensitivity to Pain There are no ...

... et al [2012] 16. See OMIM Phenotypic Series: Hereditary Sensory and Autonomic Neuropathy to view genes and modes of inheritance associated with these phenotypes. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...

... usually lacks a family history of neuropathy. See Hereditary Sensory and Autonomic Neuropathy: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...