eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dejerine sottas disease | ||||
| Disease ID | 1649 |
|---|---|
| Disease | dejerine sottas disease |
| Definition | Dejerine-Sottas disease is an inherited neurological disorder that progressively affects mobility. Peripheral nerves become enlarged or thickened leading to muscle weakness. Progress of the disorder is irregular and often accompanied by pain, weakness, numbness, and a tingling, prickling or burning sensation in the legs. Many people with Dejerine-Sottas disease continue to lead active lives.Most neurologists now consider this disorder to be one of 5 types of hereditary motor sensory neuropathy (HMSN) which simply means genetically transmitted disorder of the nerves associated with movement. Dejerine-Sottas disease is one of several that comprise Type III and in which the protective sheath around the long nerves breaks down (demyelination) for unknown reasons exposing and endangering the nerve. The nerves are enlarged due to an accumulation of connective tissue that may present in the form of onion-bulbs. - NORD Reference: NORD |
| Synonym | charcot marie tooth disease, type 3 charcot-marie-tooth disease, demyelinating, type 4f charcot-marie-tooth disease, type 3 cmt3 cmt4f dejerine sottas dis dejerine sottas neuropathy dejerine sottas syndrome dejerine-sottas disease dejerine-sottas disease (disorder) dejerine-sottas hypertrophic neuropathy dejerine-sottas neuropathy dejerine-sottas syndrome dejerines diseases sottas disease, dejerine-sottas dsn dss déjérine-sottas disease déjérine-sottas disease (disorder) hereditary hypertrophic neuropathy hereditary motor and sensory neuropathy 3 hereditary motor and sensory neuropathy type iii hereditary motor and sensory neuropathy, type iii hereditary motor sensory type ij neuropathy hereditary sensory-motor neuropathy, type iii hereditary type iii motor sensory neuropathy hereditary, type iii, motor and sensory neuropathy hmsn iii hmsn type iii hmsn type iiis hmsn3 hsmn iii hypertrophic demyelinative neuropathy of infancy hypertrophic hereditary neuropathy hypertrophic neuropathy of dejerine sottas hypertrophic neuropathy of dejerine-sottas neuropathy, dejerine-sottas progressive hypertrophic interstitial neuropathy syndrome, dejerine-sottas |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0011195 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1649 |
|---|---|
| Disease | dejerine sottas disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:22) HP:0000639 | Nystagmus HP:0002936 | Decreased distal sensation HP:0003382 | Hypertrophic nerve changes HP:0010871 | Ataxia, sensory HP:0001765 | Hammertoes HP:0002460 | Weakness of distal muscles HP:0009027 | Foot drop HP:0001270 | Motor retardation HP:0003383 | 'Onion bulb' formations HP:0001252 | Hypotonia HP:0002751 | Kyphoscoliosis HP:0003376 | 'steppage' gait HP:0003431 | Decreased motor nerve conduction velocities HP:0001171 | Hand ectrodactyly HP:0001178 | Ulnar claw HP:0001265 | Decreased tendon reflexes HP:0003693 | Muscle atrophy, distal HP:0001284 | Areflexia HP:0001761 | Pes cavus HP:0003481 | Segmental peripheral demyelination/remyelination HP:0002922 | Increased CSF protein HP:0003380 | Decreased number of peripheral myelinated nerve fibers |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1649 |
|---|---|
| Disease | dejerine sottas disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:29) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894159 | 11523566 | 1959 | EGR2 | umls:C0011195 | BeFree | EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. | 0.361085767 | 2001 | EGR2 | 10 | 62813413 | G | A |
| rs104894161 | NA | 1959 | EGR2 | umls:C0011195 | CLINVAR | NA | 0.361085767 | NA | EGR2 | 10 | 62813563 | G | A |
| rs104894161 | 11523566 | 1959 | EGR2 | umls:C0011195 | BeFree | EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. | 0.361085767 | 2001 | EGR2 | 10 | 62813563 | G | A |
| rs104894621 | 11314784 | 5376 | PMP22 | umls:C0011195 | BeFree | Our objective was to report one other DSS patient with Ser72Leu substitution in PMP22 and to concurrently illustrate how less invasive procedures such as skin biopsy could provide a rapid and reliable alternative to conventional sural nerve biopsy for the characterization of histophenotypic features. | 0.453691646 | 2001 | PMP22 | 17 | 15239575 | G | A |
| rs104894621 | 15285778 | 5376 | PMP22 | umls:C0011195 | BeFree | To describe a patient with the Dejerine-Sottas' syndrome due to a de novo Ser72Leu amino acid substitution in the PMP22 protein and summarize the phenotype associated with this frequent mutation. | 0.453691646 | 2004 | PMP22 | 17 | 15239575 | G | A |
| rs104894621 | NA | 5376 | PMP22 | umls:C0011195 | CLINVAR | NA | 0.453691646 | NA | PMP22 | 17 | 15239575 | G | A |
| rs104894706 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40397766 | G | T,A |
| rs104894706 | NA | 57716 | PRX | umls:C0011195 | CLINVAR | NA | 0.242171535 | NA | PRX | 19 | 40397766 | G | T,A |
| rs104894707 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40396207 | A | T |
| rs104894708 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40395144 | G | A |
| rs104894708 | NA | 57716 | PRX | umls:C0011195 | CLINVAR | NA | 0.242171535 | NA | PRX | 19 | 40395144 | G | A |
| rs104894714 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40395495 | G | A |
| rs104894826 | NA | 2705 | GJB1 | umls:C0011195 | CLINVAR | NA | 0.241085767 | NA | GJB1 | X | 71224114 | T | C |
| rs121913585 | 8835320 | 4359 | MPZ | umls:C0011195 | BeFree | This is the third mutation reported at this codon, the two previously described leading to CMT1B (serine 63 deletion), or to Dejerine-Sottas disease (cysteine for serine 63 substitution), suggesting that different phenotypes can result from alteration of a single amino acid, depending on the type of the change involved. | 0.447871814 | 1995 | MPZ | 1 | 161307304 | G | C,A |
| rs121913586 | NA | 4359 | MPZ | umls:C0011195 | CLINVAR | NA | 0.447871814 | NA | MPZ | 1 | 161306414 | C | T,G |
| rs121913589 | 20461396 | 4359 | MPZ | umls:C0011195 | BeFree | Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and S233fs), DSS (P(0) I30T and R98C), and CMT2 (P(0)S44F, D75V, and T124M), were investigated. | 0.447871814 | 2010 | MPZ | 1 | 161306863 | C | T,G |
| rs121913590 | 20461396 | 4359 | MPZ | umls:C0011195 | BeFree | Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and S233fs), DSS (P(0) I30T and R98C), and CMT2 (P(0)S44F, D75V, and T124M), were investigated. | 0.447871814 | 2010 | MPZ | 1 | 161306864 | G | A |
| rs121913595 | 20461396 | 4359 | MPZ | umls:C0011195 | BeFree | Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and S233fs), DSS (P(0) I30T and R98C), and CMT2 (P(0)S44F, D75V, and T124M), were investigated. | 0.447871814 | 2010 | MPZ | 1 | 161306785 | G | T,A |
| rs121913597 | 20461396 | 4359 | MPZ | umls:C0011195 | BeFree | Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and S233fs), DSS (P(0) I30T and R98C), and CMT2 (P(0)S44F, D75V, and T124M), were investigated. | 0.447871814 | 2010 | MPZ | 1 | 161307268 | T | A |
| rs121913601 | 9633821 | 4359 | MPZ | umls:C0011195 | BeFree | In the P0 gene a Ser78Leu mutation was found in one family with severe CMT1 and a de novo Tyr82Cys mutation was found in one DSS patient. | 0.447871814 | 1998 | MPZ | 1 | 161307259 | G | A |
| rs281865061 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40398754 | G | - |
| rs281865062 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40396254 | C | - |
| rs281865121 | 20461396 | 4359 | MPZ | umls:C0011195 | BeFree | Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and S233fs), DSS (P(0) I30T and R98C), and CMT2 (P(0)S44F, D75V, and T124M), were investigated. | 0.447871814 | 2010 | MPZ | 1 | 161307403 | A | G |
| rs28936682 | 10211478 | 5376 | PMP22 | umls:C0011195 | UNIPROT | Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. | 0.453691646 | 1999 | PMP22 | 17 | 15230931 | G | A |
| rs3814290 | 22847150 | 57716 | PRX | umls:C3540453 | UNIPROT | Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. | 0.36 | 2012 | PRX | 19 | 40396401 | C | T |
| rs3814290 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40396401 | C | T |
| rs754068936 | NA | 4359 | MPZ | umls:C0011195 | CLINVAR | NA | 0.447871814 | NA | MPZ | 1 | 161306462 | G | T |
| rs754521978 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40395565 | G | - |
| rs797045102 | NA | 57716 | PRX | umls:C3540453 | CLINVAR | NA | 0.36 | NA | PRX | 19 | 40396063 | A | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010871 | Sensory ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
| HP:0003431 | Decreased motor nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| HP:0009027 | Foot dorsiflexor weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0003382 | Hypertrophic nerve changes | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| HP:0003481 | Segmental peripheral demyelination/remyelination | MP:0000958 | peripheral nervous system degeneration | a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord |
| HP:0002922 | Increased CSF protein | MP:0008469 | abnormal protein level | anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage |
| HP:0003376 | Steppage gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0002936 | Distal sensory impairment | MP:0000965 | abnormal sensory neuron morphology | any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses |
| HP:0002460 | Distal muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001178 | Ulnar claw | MP:0014062 | nervous system inclusion bodies | nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system |
| HP:0003431 | Decreased motor nerve conduction velocity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003376 | Steppage gait | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009027 | Foot dorsiflexor weakness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001265 | Hyporeflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001765 | Hammertoe | MP:0014062 | nervous system inclusion bodies | nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system |
| HP:0003382 | Hypertrophic nerve changes | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0001171 | Split hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001761 | Pes cavus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003481 | Segmental peripheral demyelination/remyelination | MP:0014062 | nervous system inclusion bodies | nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system |
| HP:0003383 | Onion bulb formation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002922 | Increased CSF protein | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0003693 | Distal amyotrophy | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0010871 | Sensory ataxia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002936 | Distal sensory impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002460 | Distal muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1649 |
|---|---|
| Disease | dejerine sottas disease |
| Case | (Waiting for update.) |