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Neuropathy, hereditary sensory, type 1F(HSN1F)

MedGen UID:: 816524
•Concept ID:: C3810194
•: Disease or Syndrome

Synonyms:	Hereditary sensory neuropathy type IF; HSN IF

Gene (location): Gene(s) directly associated with this condition or phenotype.	ATL3 (11q13.1)

Monarch Initiative:	MONDO:0014286
OMIM®:	615632

Definition

Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by Kornak et al., 2014). For a discussion of genetic heterogeneity of HSN, see HSAN1A (162400). [from OMIM]

Clinical features

From HPO

Hallux valgus

MedGen UID:: 5416
•Concept ID:: C0018536
•: Anatomical Abnormality

Lateral deviation of the great toe (i.e., in the direction of the little toe).

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Metatarsal fracture

MedGen UID:: 612094
•Concept ID:: C0435943
•: Injury or Poisoning

A partial or complete breakage of a metatarsal bone.

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Acroosteolysis

MedGen UID:: 183017
•Concept ID:: C0917990
•: Disease or Syndrome

Dissolution or degeneration of bone tissue of the phalanges of the hand.

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Hyporeflexia of lower limbs

MedGen UID:: 371881
•Concept ID:: C1834696
•: Finding

Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.

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Hypoesthesia

MedGen UID:: 6974
•Concept ID:: C0020580
•: Finding

Decreased ability to perceive touch.

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Impaired pain sensation

MedGen UID:: 373348
•Concept ID:: C1837522
•: Finding

Reduced ability to perceive painful stimuli.

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Sensory axonal neuropathy

MedGen UID:: 334116
•Concept ID:: C1842587
•: Finding

An axonal neuropathy of peripheral sensory nerves.

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Neuropathic arthropathy

MedGen UID:: 13919
•Concept ID:: C0003892
•: Disease or Syndrome

Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)

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Osteomyelitis

MedGen UID:: 10497
•Concept ID:: C0029443
•: Disease or Syndrome

Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.

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Hyperkeratosis

MedGen UID:: 209030
•Concept ID:: C0870082
•: Disease or Syndrome

Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

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Abnormality of limbs
Abnormality of the immune system
- Osteomyelitis
Abnormality of the integument
- Hyperkeratosis
Abnormality of the musculoskeletal system
- Neuropathic arthropathy
Abnormality of the nervous system

Recent clinical studies

Etiology

A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.

Mohammadi S, Jafari Khamirani H, Baneshi M, Kamal N, Manoocheri J, Saffar M, Dianatpour M, Tabei SMB, Dastgheib SA
Ann Hum Genet 2023 Jul;87(4):147-157. Epub 2023 Mar 1 doi: 10.1111/ahg.12501. PMID: 36856139

ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F.

Xu H, Zhang C, Cao L, Song J, Xu X, Zhang B, Chen B, Zhao G
J Peripher Nerv Syst 2019 Mar;24(1):150-155. Epub 2019 Feb 21 doi: 10.1111/jns.12309. PMID: 30680846

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Diagnosis

A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.

See all (1)

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Neuropathy, hereditary sensory, type 1F(HSN1F)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

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