HSAN3
MCID: NRP054
MIFTS: 67
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Neuropathy, Hereditary Sensory and Autonomic, Type Iii (HSAN3)
Categories:
Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Iii:
Characteristics:Orphanet epidemiological data:58
familial dysautonomia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset at birth increased prevalence in persons of ashkenazi jewish descent HPO:31
neuropathy, hereditary sensory and autonomic, type iii:
Inheritance autosomal recessive inheritance Onset and clinical course progressive congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Skin diseases Gastrointestinal diseases Bone diseases Nephrological diseases Ear diseases Cardiovascular diseases Mental diseases
ICD10:
32
33
Orphanet: 58
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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
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Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:58 31 (show top 50) (show all 59)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:223900UMLS symptoms related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:constipation, diarrhea MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:45
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Drugs for Neuropathy, Hereditary Sensory and Autonomic, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 22)
Interventional clinical trials:(show all 12)
Cochrane evidence based reviews: dysautonomia, familial |
MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:40
Skin,
Tongue,
Eye,
Kidney,
Lung,
Bone,
Brain
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Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:(show top 50) (show all 607)
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ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iii:6 (show top 50) (show all 310)
UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iii:73
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Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii according to GeneCards Suite gene sharing:
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Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii according to GeneCards Suite gene sharing:
Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii according to GeneCards Suite gene sharing:(show all 28)
Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii according to GeneCards Suite gene sharing:
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