MPLKIP gene related symptoms and diseases

All the information presented here about the MPLKIP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MPLKIP gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Brittle hair Common - Between 50% and 80% cases
Microcornea Common - Between 50% and 80% cases
Ichthyosis Common - Between 50% and 80% cases
Sparse hair Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MPLKIP gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Retrognathia
  • Global developmental delay
  • Trichorrhexis nodosa
  • Hypogonadism
  • Microphthalmia
  • Macular degeneration
  • Decreased fertility
  • Tiger tail banding

And 72 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MPLKIP gene

Here you will find a list of rare diseases related to the MPLKIP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Alternate names

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome, pollitt syndrome, abhs, trichothiodystrophy, nonphotosensitive 1, bids syndrome, ttdn1, amish brittle hair brain syndrome, hair-brain syndrome

Description

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

Most common symptoms of TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

SOURCES: OMIM

TRICHOTHIODYSTROPHY


Description

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).


More info about TRICHOTHIODYSTROPHY

SOURCES: ORPHANET

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Alternate names

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, trichothiodystrophy, photosensitive, trichothiodystrophy with congenital ichthyosis, ichthyosis, congenital, with trichothiodystrophy, pibids syndrome, tay syndrome

Description

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

Most common symptoms of TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

SOURCES: ORPHANET OMIM


Potential gene panels for MPLKIP gene

MPLKIP Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the MPLKIP gene.

More info about this panel

Trichothiodystrophy, nonphotosensitive 1 (sequence analysis of MPLKIP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MPLKIP gene.

More info about this panel

Trichothiodystrophy (NGS panel of 5 genes) Panel

Portugal.

By CGC Genetics Trichothiodystrophy (NGS panel of 5 genes) that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3

More info about this panel

Trichothiodystrophy NGS panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy NGS panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel

Trichothiodystrophy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy Comprehensive panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel

Trichothiodystrophy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy Deletion / Duplication panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

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

Trichothiodystrophy, nonphotosensitive type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPLKIP gene.

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Trichothiodystrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy that also includes the following genes: RNF113A MPLKIP GTF2H5 NUPR1 ERCC2 ERCC3

More info about this panel

MPLKIP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MPLKIP gene.

More info about this panel

Ichthyosis Panel Panel

Finland.

By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1

More info about this panel

Ectodermal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2

More info about this panel

MPLKIP Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the MPLKIP gene.

More info about this panel

Amish Brittle Hair Brain Syndrome (MPLKIP) Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the MPLKIP gene.

More info about this panel

TRICHOTHIODYSTROPHY TYPE D (BIDS SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MPLKIP gene.

More info about this panel

Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP

More info about this panel

Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CNTROB PLCG2 SLC4A10 PIK3R5 XYLT2 SDHB

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more