Marsili syndrome

Preferred Label : Marsili syndrome;

Symbol : MARSIS;

CISMeF acronym : MARSIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital analgesia, autosomal dominant; Insensitivity to pain, congenital, autosomal dominant;

Description : Dyck et al. (1983) noted that congenital 'indifference' to pain, which is characterized by an absence of nerve pathology, must be distinguished from congenital 'insensitivity' to pain, which is associated with pathologic changes in peripheral nerves. Many cases reported as congenital indifference to pain or congenital analgesia were reported before the development of methods to assess the physiologic function of nerve fibers; therefore, Dyck et al. (1983) suggested that some of these cases may actually have been a hereditary sensory and autonomic neuropathy, such as HSAN4 (256800) or HSAN5 (608654). For a phenotypic description of congenital indifference to pain, see the autosomal recessive form (243000), which is more common. Ervin and Sternbach (1960) reported 6 affected persons in 2 generations, consistent with autosomal dominant inheritance. Comings and Amromin (1974) described the disorder in a mother and a son and daughter, with a possibility of the disorder having been present in an earlier generation. Landrieu et al. (1990) reported a mother and daughter with possible dominant inheritance of indifference to pain; perception of the other sensory modalities was normal, as was the remainder of the neurologic examination. Electrophysiologic studies and morphometric evaluation of myelinated and unmyelinated fibers from nerve biopsy specimens were normal, and the authors concluded that the disorder was not a variety of;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger homeobox 2 gene (ZFHX2, 617828.0001);

Prefixed ID : #147430;

Details

Origin ID

147430;

UMLS CUI

C4538468;

Broader ORDO disease(s)
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy [ORDO Disease]
Currated CISMeF NLP mapping
- indifference to pain, congenital, autosomal dominant [MeSH concept]
- indifference to pain, congenital, autosomal dominant [MeSH Supplementary Concept]
Genes related to phenotype
- Zinc finger homeobox 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased corneal reflex [HPO term]
- Headache [HPO term]
- Hypohidrosis [HPO term]
- Impaired temperature sensation [HPO term]
- Impaired thermal sensitivity [HPO term]
- Isolated absence of pain sensation [HPO term]
- Pain insensitivity [HPO term]
- Painless fractures due to injury [HPO term]
- Recurrent fever [HPO term]
- Usually autosomal dominant [HPO term]
Not associated HPO term(s)
- Corneal scarring [HPO term]
- Lacrimation abnormality [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- indifference to pain, congenital, autosomal dominant [MeSH Supplementary Concept]
- indifference to pain, congenital, autosomal dominant [MeSH concept]

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