Neuropathy, Hereditary Sensory And Autonomic, Type Iia; Hsan2a
Genes related to Neuropathy, Hereditary Sensory And Autonomic, Type Iia; Hsan2a
- WNK1
Clinical Features
Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary Sensory And Autonomic, Type Iia; Hsan2a
- Generalized hypotonia
- Scoliosis
- Muscular hypotonia
- Pain
- Peripheral neuropathy
- Diarrhea
- Recurrent infections
- Abnormality of metabolism/homeostasis
- Areflexia
- Hyporeflexia
And another 46 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Neuropathy, Hereditary Sensory And Autonomic, Type Iia; Hsan2a Is also known as acroosteolysis, neurogenic, neuropathy, hereditary sensory radicular, autosomal recessive, acroosteolysis, giaccai type, neuropathy, progressive sensory, of children, neuropathy, hereditary sensory, type iia, hsan iia, hsn iia, morvan disease, neuropathy, congeni.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Neuropathy, Hereditary Sensory And Autonomic, Type Iia; Hsan2a Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Athena Diagnostics Inc (United States).
WNK1, NTRK1
Specificity
50 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
WNK1
Specificity
100 %
Genes
100 % |
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)
View the complete list with 58 more genes
Specificity
2 %
Genes
100 % |
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)
View the complete list with 58 more genes
Specificity
2 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...)
View the complete list with 54 more genes
Specificity
2 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
12 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
12 %
Genes
100 % |
![]() By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).
WNK1
Specificity
100 %
Genes
100 % |
You can get up to 46 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRIMARY PERITONEAL CARCINOMA MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 GALLBLADDER DISEASE 1; GBD1 GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP BRANCHIOOTORENAL SYNDROME 2; BOR2