MARSIS
MCID: MRS009
MIFTS: 21

Marsili Syndrome (MARSIS)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Marsili Syndrome

MalaCards integrated aliases for Marsili Syndrome:

Name: Marsili Syndrome 57 72
Congenital Analgesia, Autosomal Dominant 57 72 6
Insensitivity to Pain, Congenital, Autosomal Dominant 57 72
Marsis 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
one italian family with a confirmed zfhx2 mutation has been reported (last curated january 2018)


HPO:

31
marsili syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 147430
MeSH 44 D000699

Summaries for Marsili Syndrome

OMIM® : 57 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). (147430) (Updated 05-Apr-2021)

MalaCards based summary : Marsili Syndrome, also known as congenital analgesia, autosomal dominant, is related to neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Marsili Syndrome is ZFHX2 (Zinc Finger Homeobox 2). Affiliated tissues include skin, and related phenotypes are hypohidrosis and headache

UniProtKB/Swiss-Prot : 72 Marsili syndrome: An autosomal dominant disorder characterized by congenital pain insensitivity. Painless cutaneous thermal burns and bone fractures are present in affected individuals. Corneal reflex is absent, sweating is decreased or absent. Patients have normal cognitive abilities, and display no evidence of distal weakness.

Related Diseases for Marsili Syndrome

Diseases related to Marsili Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type v 11.0

Symptoms & Phenotypes for Marsili Syndrome

Human phenotypes related to Marsili Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 31 HP:0000966
2 headache 31 HP:0002315
3 pain insensitivity 31 HP:0007021
4 recurrent fever 31 HP:0001954
5 painless fractures due to injury 31 HP:0002661
6 decreased corneal reflex 31 HP:0008000
7 impaired thermal sensitivity 31 HP:0006901

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Peripheral Nervous System:
pain insensitivity
altered temperature sensation
low sensitivity to capsaicin

Head And Neck Nose:
normal odor perception

Skin Nails Hair Skin:
painless cutaneous thermal burns
decreased or absent sweating
hyperthermia, episodic

Head And Neck Eyes:
absent corneal reflex
normal tear production

Skeletal Limbs:
painless fractures

Clinical features from OMIM®:

147430 (Updated 05-Apr-2021)

Drugs & Therapeutics for Marsili Syndrome

Search Clinical Trials , NIH Clinical Center for Marsili Syndrome

Genetic Tests for Marsili Syndrome

Anatomical Context for Marsili Syndrome

MalaCards organs/tissues related to Marsili Syndrome:

40
Skin

Publications for Marsili Syndrome

Articles related to Marsili Syndrome:

(show all 18)
# Title Authors PMID Year
1
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. 57 6
29253101 2018
2
Quantitative Real-Time PCR detection of TRPV1-4 gene expression in human leukocytes from healthy and hyposensitive subjects. 57
18983665 2008
3
Dominantly transmitted congenital indifference to pain. 57
1694419 1990
4
Autosomal dominant insensitivity to pain with hyperplastic myelinopathy and autosomal dominant indifference to pain. 57
4136553 1974
5
Hereditary insensitivity to pain. 57
13890708 1960
6
Medical adhesive-related skin injuries in the neonatology department of a teaching hospital. 61
33768691 2021
7
Incidence of and Risk Factors for Medical Adhesive-Related Skin Injuries Among Patients: A Cross-sectional Study. 61
33201143 2020
8
The Global Search for Liquid Water on Mars from Orbit: Current and Future Perspectives. 61
32722008 2020
9
Medical Adhesives-Related Skin Injury in a Pediatric Intensive Care Unit: A Single-Center Observational Study. 61
31738304 2019
10
Minimising pain and medical adhesive related skin injuries in vulnerable patients. 61
31393764 2019
11
Medical Adhesive-Related Skin Injuries and Associated Risk Factors in a Pediatric Intensive Care Unit. 61
30845071 2019
12
Peristomal Medical Adhesive-Related Skin Injury: Results of an International Consensus Meeting. 61
30844869 2019
13
Radar evidence of subglacial liquid water on Mars. 61
30045881 2018
14
Descriptive study of the frequency of medical adhesive-related skin injuries in a vascular clinic. 61
28527732 2017
15
Medical Adhesive-Related Skin Injury Prevalence Among Adult Acute Care Patients: A Single-Center Observational Study. 61
26528871 2015
16
Radar sounding of the Medusae Fossae Formation Mars: equatorial ice or dry, low-density deposits? 61
17975034 2007
17
MARSIS radar sounder evidence of buried basins in the northern lowlands of Mars. 61
17167480 2006
18
Radar soundings of the ionosphere of Mars. 61
16319123 2005

Variations for Marsili Syndrome

ClinVar genetic disease variations for Marsili Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THTPA , ZFHX2 NM_033400.3(ZFHX2):c.5738G>A (p.Arg1913Lys) SNV Pathogenic 487556 rs1555344723 GRCh37: 14:23993413-23993413
GRCh38: 14:23524204-23524204

UniProtKB/Swiss-Prot genetic disease variations for Marsili Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 ZFHX2 p.Arg1913Lys VAR_081116 rs155534472

Expression for Marsili Syndrome

Search GEO for disease gene expression data for Marsili Syndrome.

Pathways for Marsili Syndrome

GO Terms for Marsili Syndrome

Sources for Marsili Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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