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Indifference to pain, congenital, autosomal dominant(MARSIS)

MedGen UID:
1613569
Concept ID:
C4538468
Disease or Syndrome
Synonym: CONGENITAL ANALGESIA, AUTOSOMAL DOMINANT
 
Gene (location): ZFHX2 (14q11.2)
 
Monarch Initiative: MONDO:0007828
OMIM®: 147430

Definition

Marsili syndrome (MARSIS) is an autosomal dominant pain insensitivity disorder characterized by a lowered ability to sense pain, to experience temperature, and to sweat. Affected individuals do not perceive broken bones and burns as painful, and have lowered sensitivity to capsaicin. However, visceral pain (e.g., childbirth-related) and light touch are perceived (summary by Habib et al., 2018). [from OMIM]

Clinical features

From HPO
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Pain insensitivity
MedGen UID:
488855
Concept ID:
C0344307
Finding
Inability to perceive painful stimuli.
Painless fractures due to injury
MedGen UID:
325208
Concept ID:
C1837602
Finding
An increased tendency to fractures following trauma, with fractures occurring without pain.
Impaired temperature sensation
MedGen UID:
866867
Concept ID:
C4021222
Finding
A reduced ability to discriminate between different temperatures.
Corneal scarring
MedGen UID:
83899
Concept ID:
C0349702
Finding
Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Decreased corneal reflex
MedGen UID:
57723
Concept ID:
C0151572
Finding
An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
Lacrimation abnormality
MedGen UID:
867427
Concept ID:
C4021801
Anatomical Abnormality
Abnormality of tear production.

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