Details of Disease

General Information of Disease (ID: DISA9P1I)

• Disease Name: Autosomal recessive distal spinal muscular atrophy 1
• Synonyms: neuronopathy, Severe infantile axonal, with respiratory failure; severe infantile axonal neuropathy with respiratory failure; spinal muscular atrophy, diaphragmatic; neuronopathy, distal hereditary motor, type VI; HMN VI; neuronopathy, distal hereditary motor, type 6; spinal muscular atrophy, distal, autosomal recessive, 1; HMN 6; Hmn6; spinal muscular atrophy with respiratory distress 1; IGHMBP2 spinal muscular atrophy; DSMA1; dSMA1; SIANRF; spinal muscular atrophy, distal, autosomal recessive, type 1; autosomal recessive spinal muscular atrophy with respiratory distress; distal-HMN type 6; autosomal recessive distal spinal muscular atrophy 1; diaphragmatic spinal muscular atrophy; Spinal Muscular Atrophy with Respiratory Distress; spinal muscular atrophy caused by mutation in IGHMBP2; spinal muscular atrophy with respiratory distress type 1; autosomal recessive distal spinal muscular atrophy type 1; severe infantile axonal neuropathy with respiratory failure type 1; distal hereditary motor neuropathy type 6; SMARD1; dHMN6
• Definition: Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
• Disease Hierarchy:
  DISVJU8N: Neuronopathy, distal hereditary motor, autosomal recessive
  DISTLKOB: Spinal muscular atrophy
  DISA9P1I: Autosomal recessive distal spinal muscular atrophy 1
• Disease Identifiers:
  MONDO ID: MONDO_0011436
  MESH ID: C536880
  UMLS CUI: C1858517
  OMIM ID: 604320
  MedGen ID: 388083
  Orphanet ID: 98920
  SNOMED CT ID: 711483003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMN1	TT8QL6X	Disputed	Biomarker	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMN2	OT54RLO1	Disputed	Biomarker	[1]
LAS1L	OTG4I2A1	Strong	Genetic Variation	[2]
IGHMBP2	OTAZFPF5	Definitive	Autosomal recessive	[3]

References

• [1] Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.Clin Neuropathol. 2016 Mar-Apr;35(2):58-65. doi: 10.5414/NP300902.
• [2] Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.
• [3] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.