MCID: MRS009
MIFTS: 13

Marsili Syndrome

Categories: Genetic diseases

Aliases & Classifications for Marsili Syndrome

MalaCards integrated aliases for Marsili Syndrome:

Name: Marsili Syndrome 57 75
Insensitivity to Pain, Congenital, Autosomal Dominant 57 75
Congenital Analgesia, Autosomal Dominant 57 75
Marsis 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
marsili syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 147430
MeSH 44 D000699
SNOMED-CT via HPO 69 263681008 38433004

Summaries for Marsili Syndrome

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Marsili Syndrome, is also known as insensitivity to pain, congenital, autosomal dominant. An important gene associated with Marsili Syndrome is ZFHX2 (Zinc Finger Homeobox 2). Affiliated tissues include bone, and related phenotype is pain insensitivity.

Description from OMIM: 147430

Related Diseases for Marsili Syndrome

Symptoms & Phenotypes for Marsili Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
absent corneal reflex
normal tear production

Skeletal Limbs:
painless fractures

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


Clinical features from OMIM:

147430

Human phenotypes related to Marsili Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 pain insensitivity 32 HP:0007021

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:

41
Bone

Publications for Marsili Syndrome

Variations for Marsili Syndrome

ClinVar genetic disease variations for Marsili Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZFHX2 NP_207646.2: p.Arg1913Lys single nucleotide variant Pathogenic GRCh38 Chromosome 14, 23524204: 23524204
2 ZFHX2 NP_207646.2: p.Arg1913Lys single nucleotide variant Pathogenic GRCh37 Chromosome 14, 23993413: 23993413

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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