eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal recessive axonal neuropathy with neuromyotonia | ||||
| Disease ID | 1456 |
|---|---|
| Disease | autosomal recessive axonal neuropathy with neuromyotonia |
| Definition | A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491) |
| Synonym | autosomal recessive axonal neuropathy with neuromyotonia (disorder) autosomal recessive neuromyotonia with axonal neuropathy continuous muscle activity syndrome continuous muscle fiber activity continuous muscle fibre activity continuous myokymia continuous myokymias gamstorp wohlfart syndrome gamstorp-wohlfart syndrome gamstorp-wohlfart syndromes isaac syndrome isaac's syndrome isaacs mertens syndrome isaacs pseudomyotonia syndrome isaacs syndrome isaacs syndrome (disorder) isaacs syndrome [disease/finding] isaacs' syndrome isaacs-mertens syndrome myokymia, continuous myokymia, myotonia and muscle wasting myokymia, myotonia, and muscle wasting myokymia, myotonia, muscle wasting, and hyperhidrosis myokymias, continuous neuromyotonia neuromyotonia (disorder) neuromyotonia [ambiguous] neuromyotonia and axonal neuropathy, autosomal recessive nman pseudomyotonia pseudomyotonia syndrome of isaacs quantal squander syndrome of continuous muscle activity syndromes, gamstorp-wohlfart syndromes, isaacs-mertens |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0242287 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0270921 | axonal neuropathy | 3 C0442874 | neuropathy | 3 C0152025 | polyneuropathy | 2 C2700641 | lymphoplasmacytic lymphoma | 1 C0021053 | immune disease | 1 C0005745 | ptosis | 1 C0026896 | myasthenia gravis | 1 C0040100 | thymoma | 1 C0004943 | behcet disease | 1 C0278848 | recurrent thymoma | 1 C0027868 | neuromuscular disorders | 1 C0026848 | muscular disorders | 1 C0024299 | lymphoma | 1 C0021053 | immune disorder | 1 C0751552 | thymus cancer | 1 C0021053 | immune disorders | 1 C0040381 | tolosa-hunt syndrome | 1 C0238301 | nasopharyngeal carcinoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) HINT1 | 5q23.3 |
| Disease ID | 1456 |
|---|---|
| Disease | autosomal recessive axonal neuropathy with neuromyotonia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002960 | Autoimmune condition | 3 HP:0003477 | Peripheral axonal neuropathy | 3 HP:0002380 | Muscle twitch | 2 HP:0001271 | Polyneuropathy | 2 HP:0007178 | Motor polyneuropathy | 1 HP:0100785 | Insomnia | 1 HP:0001250 | Seizures | 1 HP:0003394 | Muscle cramps | 1 HP:0000508 | Drooping upper eyelid | 1 HP:0100522 | Thymoma | 1 HP:0002665 | Lymphoma | 1 HP:0030731 | Carcinoma | 1 HP:0003473 | Fatigable weakness | 1 |
| Disease ID | 1456 |
|---|---|
| Disease | autosomal recessive axonal neuropathy with neuromyotonia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs149782619 | 22961002 | 3094 | HINT1 | umls:C0242287 | UNIPROT | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. | 0.240814326 | 2012 | HINT1 | 5 | 131165096 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1456 |
|---|---|
| Disease | autosomal recessive axonal neuropathy with neuromyotonia |
| Case | (Waiting for update.) |