Paganini-Miozzo Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 301025 PS309510

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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.

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Related Diseases for Paganini-Miozzo Syndrome

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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

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Drugs & Therapeutics for Paganini-Miozzo Syndrome

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

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Genetic Tests for Paganini-Miozzo Syndrome

Genetic tests related to Paganini-Miozzo Syndrome:

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

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Anatomical Context for Paganini-Miozzo Syndrome

MalaCards organs/tissues related to Paganini-Miozzo Syndrome:

⁴¹

Eye

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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	Paganini L...Miozzo M	30471091	2019

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Genes for Paganini-Miozzo Syndrome

Genes related to Paganini-Miozzo Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HS6ST2	Heparan Sulfate 6-O-Sulfotransferase 2	Protein Coding	1057.67	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Variants (show sections)	30471091

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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

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Expression for Paganini-Miozzo Syndrome

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

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Pathways for Paganini-Miozzo Syndrome

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GO Terms for Paganini-Miozzo Syndrome

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Paganini-Miozzo Syndrome (MRXSPM)

Aliases & Classifications for Paganini-Miozzo Syndrome

MalaCards integrated aliases for Paganini-Miozzo Syndrome:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Paganini-Miozzo Syndrome

Related Diseases for Paganini-Miozzo Syndrome

Symptoms & Phenotypes for Paganini-Miozzo Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Paganini-Miozzo Syndrome

Genetic Tests for Paganini-Miozzo Syndrome

Genetic tests related to Paganini-Miozzo Syndrome:

Anatomical Context for Paganini-Miozzo Syndrome

MalaCards organs/tissues related to Paganini-Miozzo Syndrome:

Publications for Paganini-Miozzo Syndrome

Articles related to Paganini-Miozzo Syndrome:

Genes for Paganini-Miozzo Syndrome

Genes related to Paganini-Miozzo Syndrome (1 elite genes):

Variations for Paganini-Miozzo Syndrome

ClinVar genetic disease variations for Paganini-Miozzo Syndrome:

Expression for Paganini-Miozzo Syndrome

Pathways for Paganini-Miozzo Syndrome

GO Terms for Paganini-Miozzo Syndrome

Sources for Paganini-Miozzo Syndrome