Neuropathy, Hereditary Sensory and Autonomic, Type Iii (HSAN3)

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Disease Ontology 12 DOID:11589 OMIM 56 223900 OMIM Phenotypic Series 56 PS162400 KEGG 36 H01987 MeSH 43 D004402 NCIt 49 C84706 SNOMED-CT 67 29159009 ICD10 32 G90.1

MESH via Orphanet 44 D004402 ICD10 via Orphanet 33 G90.1 UMLS via Orphanet 72 C0013364 Orphanet 58 ORPHA1764 MedGen 41 C0013364 SNOMED-CT via HPO 68 103254005 111266001 128613002 134291007 14760008 161857006 16331000 166717003 18963009 197661001 197679002 203522001 2055003 213026003 22325002 225595004 235595009 236423003 240196003 24184005 246545002 247033008 249497008 25003006 252157006 253215004 255314001 25786006 258211005 267060006 274093008 274523007 276617005 277843001 281016006 28651003 300359004 302289002 30425001 312230002 313307000 3424008 359554008 364538006 38341003 39539005 398151007 398152000 398199007 405501007 405946002 413921009 415690000 415691001 422400008 42399005 444896005 45004005 50792001 52613005 5468008 57190000 59576002 62315008 64217002 64634000 67536000 697990000 698065002 72756009 76976005 77957000 82646005 84757009 85102008 86651002 89627008 91175000 91514001 95735008 more UMLS 71 C0013364

Genetics Home Reference : ²⁵ Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III. Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay. Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Iii, also known as familial dysautonomia, is related to insensitivity to pain, congenital, with anhidrosis and neuropathy, hereditary sensory and autonomic, type iia, and has symptoms including constipation and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iii is ELP1 (Elongator Complex Protein 1), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Dopamine and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and eye, and related phenotypes are feeding difficulties in infancy and hyperhidrosis

NIH Rare Diseases : ⁵² Familial dysautonomia , also called hereditary sensory and autonomic neuropathy type III, is a genetic disorder that affects the development and survival of certain nerve cells . The disorder disturbs cells in the autonomic nervous system , which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is caused by mutations in the IKBKAP gene . It is inherited in an autosomal recessive pattern.

OMIM : ⁵⁶ Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400). (223900)

NINDS : ⁵³ Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.

KEGG : ³⁶ Familial dysautonomia (FD), also known as Riley day syndrome, is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems. Symptoms include decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, and gastrointestinal dysfunction. This disorder is primarily confined to individuals of Ashkenazi Jewish descent, and caused by mutations of the IKAP gene that encodes a scaffolding unit ELP1 for a elongator complex.

UniProtKB/Swiss-Prot : ⁷³ Neuropathy, hereditary sensory and autonomic, 3: 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. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction.

Wikipedia : ⁷⁴ Familial dysautonomia (FD) is a rare, progressive, recessive genetic disorder of the autonomic nervous... more...

GeneReviews: NBK1180

Clinical features from OMIM:

223900

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