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.

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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


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

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

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

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

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

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

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

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

Single gene testing MPDZ Panel

Germany.

By CeGaT GmbH

This panel specifically test the MPDZ gene.

More info about this panel

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

MPDZ Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MPDZ gene.

More info about this panel

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

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

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


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