Neuronopathy, distal hereditary motor, autosomal recessive 1

Preferred Label : Neuronopathy, distal hereditary motor, autosomal recessive 1;

Symbol : HMNR1;

CISMeF acronym : DHMN6; DSMA1; HMN6; SIANRF; SMARD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuropathy, distal hereditary motor, autosomal recessive 1; Severe infantile axonal neuropathy with respiratory failure; HMN6; DHMN6; Spinal muscular atrophy with respiratory distress 1; SIANRF; Hmn VI; Spinal muscular atrophy, diaphragmatic; SMARD1; Neuronopathy, severe infantile axonal, with respiratory failure; DSMA1; Spinal muscular atrophy, distal, autosomal recessive, 1; Neuronopathy, distal hereditary motor, harding type VI;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the immunoglobulin mu binding protein 2 gene (IGHMBP2, 600502.0001);

Prefixed ID : #604320;

Details

Origin ID

604320;

UMLS CUI

C1858517;

Automatic exact mappings (from CISMeF team)
- immunoglobulin mu DNA binding protein 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Spinal muscular atrophy with respiratory distress 1 [MeSH concept]
- Spinal muscular atrophy with respiratory distress type 1 [ORDO Disease]
- Spinal muscular atrophy with respiratory distress type 1 (disorder) [SNOMED CT concept]
- autosomal recessive distal hereditary motor neuronopathy 1 [DO Concept]
- spinal muscular atrophy with respiratory distress 1 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive distal hereditary motor neuronopathy 1 [DO Concept]
Genes related to phenotype
- Immunoglobulin mu-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Camptodactyly of finger [HPO term]
- Congenital onset [HPO term]
- Constipation [HPO term]
- Decreased fetal movement [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Degeneration of anterior horn cells [HPO term]
- Denervation of the diaphragm [HPO term]
- Diaphoresis [HPO term]
- Diaphragmatic eventration [HPO term]
- Diaphragmatic paralysis [HPO term]
- Diaphragmatic weakness [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal muscle weakness and atrophy [HPO term]
- EMG: neuropathic changes [HPO term]
- Eventration of the right or both hemidiaphragms [HPO term]
- Failure to thrive [HPO term]
- Hyperhidrosis [HPO term]
- Hyporeflexia [HPO term]
- Inspiratory stridor [HPO term]
- Intrauterine growth retardation [HPO term]
- Limb muscle weakness [HPO term]
- Muscle weakness and atrophy [HPO term]
- Neonatal hypotonia [HPO term]
- Nerve biopsy shows axonal degeneration [HPO term]
- Peripheral axonal degeneration [HPO term]
- Premature birth [HPO term]
- Respiratory failure [HPO term]
- Small for gestational age [HPO term]
- Spinal muscular atrophy [HPO term]
- Tachypnea [HPO term]
- Talipes equinovarus [HPO term]
- Urinary incontinence [HPO term]
- Ventilator dependence with inability to wean [HPO term]
- Weak cry [HPO term]
ORDO concept(s)
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]
- Spinal muscular atrophy with respiratory distress type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinal muscular atrophy with respiratory distress 1 [MeSH concept]
- Spinal muscular atrophy with respiratory distress type 1 [ORDO Disease]
- Spinal muscular atrophy with respiratory distress type 1 (disorder) [SNOMED CT concept]
- autosomal recessive distal hereditary motor neuronopathy 1 [DO Concept]
- spinal muscular atrophy with respiratory distress 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]
- Spinal muscular atrophy with respiratory distress [ICD-11 More detail]

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