Links from Gene

Indifference to pain, congenital, autosomal dominant(MARSIS)

MedGen UID:: 1613569
•Concept ID:: C4538468
•: Disease or Syndrome

Synonym:	CONGENITAL ANALGESIA, AUTOSOMAL DOMINANT

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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Pain insensitivity

MedGen UID:: 488855
•Concept ID:: C0344307
•: Finding

Inability to perceive painful stimuli.

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Painless fractures due to injury

MedGen UID:: 325208
•Concept ID:: C1837602
•: Finding

An increased tendency to fractures following trauma, with fractures occurring without pain.

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Impaired temperature sensation

MedGen UID:: 866867
•Concept ID:: C4021222
•: Finding

A reduced ability to discriminate between different temperatures.

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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.

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Recurrent fever

MedGen UID:: 811468
•Concept ID:: C3714772
•: Sign or Symptom

Periodic (episodic or recurrent) bouts of fever.

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Hypohidrosis

MedGen UID:: 43796
•Concept ID:: C0020620
•: Disease or Syndrome

Abnormally diminished capacity to sweat.

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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.

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Lacrimation abnormality