MCID: QZM001
MIFTS: 14

Qazi Markouizos Syndrome

Categories: Bone diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Qazi Markouizos Syndrome

MalaCards integrated aliases for Qazi Markouizos Syndrome:

Name: Qazi Markouizos Syndrome 12 52 43 71
Qazi-Markouizos Syndrome 12 74
Hypotonia, Psychomotor Retardation, Seizures, Delayed and Dysharmonic Skeletal Maturation, and Congenital Fibre Type Disproportion 52
Dysharmonic Skeletal Maturation - Muscular Fibre Disproportion 12
Dysharmonic Skeletal Maturation Muscular Fibre Disproportion 52
Puertorican Infant Hypotonia Syndrome 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0050740
MeSH 43 C536259
UMLS 71 C2931142

Summaries for Qazi Markouizos Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3010 Definition A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital , marked, central hypotonia , severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994. Visit the Orphanet disease page for more resources.

MalaCards based summary : Qazi Markouizos Syndrome, also known as qazi-markouizos syndrome, is related to puerto rican infant hypotonia syndrome and hypertelorism, and has symptoms including seizures and chronic constipation.

Disease Ontology : 12 A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.

Wikipedia : 74 Qazi-Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital... more...

Related Diseases for Qazi Markouizos Syndrome

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

# Related Disease Score Top Affiliating Genes
1 puerto rican infant hypotonia syndrome 12.3
2 hypertelorism 10.6
3 visual epilepsy 10.6
4 constipation 10.6
5 hypotonia 10.6
6 seizure disorder 10.6

Graphical network of the top 20 diseases related to Qazi Markouizos Syndrome:



Diseases related to Qazi Markouizos Syndrome

Symptoms & Phenotypes for Qazi Markouizos Syndrome

UMLS symptoms related to Qazi Markouizos Syndrome:


seizures, chronic constipation

Drugs & Therapeutics for Qazi Markouizos Syndrome

Search Clinical Trials , NIH Clinical Center for Qazi Markouizos Syndrome

Cochrane evidence based reviews: qazi markouizos syndrome

Genetic Tests for Qazi Markouizos Syndrome

Anatomical Context for Qazi Markouizos Syndrome

Publications for Qazi Markouizos Syndrome

Articles related to Qazi Markouizos Syndrome:

# Title Authors PMID Year
1
A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. 61
8064821 1994

Variations for Qazi Markouizos Syndrome

Expression for Qazi Markouizos Syndrome

Search GEO for disease gene expression data for Qazi Markouizos Syndrome.

Pathways for Qazi Markouizos Syndrome

GO Terms for Qazi Markouizos Syndrome

Sources for Qazi Markouizos Syndrome

3 CDC
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10 dbSNP
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17 EFO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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