MPDZ gene related symptoms and diseases
All the information presented here about the MPDZ gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MPDZ gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Heterotopia | Uncommon - Between 30% and 50% cases |
| Hepatic failure | Uncommon - Between 30% and 50% cases |
| Bulbous nose | Uncommon - Between 30% and 50% cases |
| Pulmonary hypoplasia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MPDZ gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Iris coloboma
- Intestinal malrotation
- Dandy-Walker malformation
- Microdontia
- Congenital diaphragmatic hernia
- Cholestasis
- Wide anterior fontanel
- Facial asymmetry
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MPDZ gene
Here you will find a list of rare diseases related to the MPDZ. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2
Alternate names
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly
Description
Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.
Most common symptoms of HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2
SOURCES: OMIM
CONGENITAL COMMUNICATING HYDROCEPHALUS
Alternate names
CONGENITAL COMMUNICATING HYDROCEPHALUS Is also known as congenital non-obstructive hydrocephalus
More info about CONGENITAL COMMUNICATING HYDROCEPHALUS
SOURCES: ORPHANET
Search interest in MPDZ
Potential gene panels for MPDZ gene
Comprehensive Hydrocephalus Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Hydrocephalus Panel that also includes the following genes: CCDC88C L1CAM MPDZ
More info about this panel United States.
Autosomal recessive non-syndromic hydrocehalus panel Panel
United States.
By Genetic Services Laboratory University of Chicago Autosomal recessive non-syndromic hydrocehalus panel that also includes the following genes: CCDC88C MPDZ
More info about this panel United States.
Hydrocephalus, nonsyndromic, type 2 AR (sequence analysis of MPDZ gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MPDZ gene.
More info about this panel Portugal.
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C
More info about this panel United States.
Hydrocephalus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Hydrocephalus, nonsyndromic, autosomal recessive type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MPDZ gene.
More info about this panel Germany.
Single gene testing MPDZ Panel
Germany.
By CeGaT GmbH
This panel specifically test the MPDZ gene.
More info about this panel Germany.
Hydrocephalus Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hydrocephalus that also includes the following genes: CCDC88C L1CAM MPDZ
More info about this panel Spain.
MPDZ Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MPDZ gene.
More info about this panel United States.
Macrocephaly / Overgrowth Syndrome Panel Panel
Finland.
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Finland.
Neuronal Migration Disorder Panel Panel
Finland.
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panel Finland.
Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes Panel
Spain.
By Reference Laboratory Genetics Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes that also includes the following genes: CCDC88C L1CAM MPDZ
More info about this panel Spain.
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