MRXSPM
MCID: PGN002
MIFTS: 20

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 12 73 29 6 17
Mrxspm 57 12 73
Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type 57 73
Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type; Mrxspm 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

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


HPO:

31
paganini-miozzo syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Paganini-Miozzo Syndrome

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has material basis in hemizygous mutation in HS6ST2 on chromosome Xq26.2.

MalaCards based summary : Paganini-Miozzo Syndrome, is also known as mrxspm. An important gene associated with Paganini-Miozzo Syndrome is HS6ST2 (Heparan Sulfate 6-O-Sulfotransferase 2). Affiliated tissues include eye, and related phenotypes are global developmental delay and mandibular prognathia

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Paganini-Miozzo syndrome: An X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism.

Related Diseases for Paganini-Miozzo Syndrome

Symptoms & Phenotypes for Paganini-Miozzo Syndrome

Human phenotypes related to Paganini-Miozzo Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 mandibular prognathia 31 HP:0000303
3 delayed speech and language development 31 HP:0000750
4 microtia 31 HP:0008551
5 low-set ears 31 HP:0000369
6 downslanted palpebral fissures 31 HP:0000494
7 downturned corners of mouth 31 HP:0002714
8 deeply set eye 31 HP:0000490
9 increased serum lactate 31 HP:0002151
10 large forehead 31 HP:0002003
11 thin vermilion border 31 HP:0000233
12 triangular face 31 HP:0000325
13 feeding difficulties 31 HP:0011968
14 urinary incontinence 31 HP:0000020
15 high myopia 31 HP:0011003
16 poor speech 31 HP:0002465
17 dilation of lateral ventricles 31 HP:0006956
18 delayed ability to walk 31 HP:0031936
19 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
global developmental delay
poor speech
febrile seizures
impaired intellectual development
delayed speech
more
Head And Neck Eyes:
downslanted palpebral fissures
deep-set eyes
chorioretinopathy
high myopia (-6 diopters)
downslanted eyebrows

Genitourinary Bladder:
urinary incontinence

Abdomen Gastrointestinal:
poor feeding

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

Head And Neck Face:
large forehead
triangular face
prognathism, mild

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

Laboratory Abnormalities:
increased serum lactate, mild

Clinical features from OMIM®:

301025 (Updated 05-Mar-2021)

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:

40
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. 6 57
30471091 2019

Variations for Paganini-Miozzo Syndrome

ClinVar genetic disease variations for Paganini-Miozzo Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HS6ST2 NM_001077188.2(HS6ST2):c.916G>C (p.Gly306Arg) SNV Pathogenic 633697 rs866919041 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....