U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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): 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).
Metatarsal fracture
MedGen UID:
82904
Concept ID:
C0272774
Injury or Poisoning
A partial or complete breakage of a metatarsal bone.
Acroosteolysis
MedGen UID:
183017
Concept ID:
C0917990
Disease or Syndrome
Dissolution or degeneration of bone tissue of the phalanges of the hand.
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.
Hypoesthesia
MedGen UID:
6974
Concept ID:
C0020580
Finding
Decreased ability to perceive touch.
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Reduced ability to perceive painful stimuli.
Sensory axonal neuropathy
MedGen UID:
334116
Concept ID:
C1842587
Finding
An axonal neuropathy of peripheral sensory nerves.
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)
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.
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.

Recent clinical studies

Etiology

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
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

Diagnosis

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...