MRXSPM
MCID: PGN002
MIFTS: 15

Paganini-Miozzo Syndrome (MRXSPM)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Paganini-Miozzo Syndrome

MalaCards integrated aliases for Paganini-Miozzo Syndrome:

Name: Paganini-Miozzo Syndrome 57 29 6
Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type; Mrxspm 57
Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type 57
Mrxspm 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
two italian brothers have been reported (last curated june 2019)


Classifications:



External Ids:

Summaries for Paganini-Miozzo Syndrome

OMIM : 57 Paganini-Miozzo syndrome (MRXSPM) is a neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features (summary by Paganini et al., 2019) (301025)

MalaCards based summary : Paganini-Miozzo Syndrome, is also known as mental retardation, x-linked, syndromic, paganini-miozzo type; mrxspm. An important gene associated with Paganini-Miozzo Syndrome is HS6ST2 (Heparan Sulfate 6-O-Sulfotransferase 2). Affiliated tissues include eye.

Related Diseases for Paganini-Miozzo Syndrome

Symptoms & Phenotypes for Paganini-Miozzo Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
small ears
malrotated ears

Head And Neck Eyes:
downslanted palpebral fissures
deep-set eyes
chorioretinopathy
high myopia (-6 diopters)
downslanted eyebrows

Genitourinary Bladder:
urinary incontinence

Head And Neck Mouth:
downturned corners of the mouth
thin lips

Neurologic Central Nervous System:
global developmental delay
febrile seizures
poor speech
delayed speech
enlarged lateral ventricles
more
Head And Neck Face:
large forehead
triangular face
prognathism, mild

Abdomen Gastrointestinal:
poor feeding

Laboratory Abnormalities:
increased serum lactate, mild

Clinical features from OMIM:

301025

Drugs & Therapeutics for Paganini-Miozzo Syndrome

Search Clinical Trials , NIH Clinical Center for Paganini-Miozzo Syndrome

Genetic Tests for Paganini-Miozzo Syndrome

Genetic tests related to Paganini-Miozzo Syndrome:

# Genetic test Affiliating Genes
1 Paganini-Miozzo Syndrome 29 HS6ST2

Anatomical Context for Paganini-Miozzo Syndrome

MalaCards organs/tissues related to Paganini-Miozzo Syndrome:

41
Eye

Publications for Paganini-Miozzo Syndrome

Articles related to Paganini-Miozzo Syndrome:

# Title Authors PMID Year
1
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins. 8 71
30471091 2019

Variations for Paganini-Miozzo Syndrome

ClinVar genetic disease variations for Paganini-Miozzo Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HS6ST2 NM_001077188.2(HS6ST2): c.916G> C (p.Gly306Arg) single nucleotide variant Pathogenic X:132090867-132090867 X:132956839-132956839

Expression for Paganini-Miozzo Syndrome

Search GEO for disease gene expression data for Paganini-Miozzo Syndrome.

Pathways for Paganini-Miozzo Syndrome

GO Terms for Paganini-Miozzo Syndrome

Sources for Paganini-Miozzo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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