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.
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).
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
Search interest in MPLKIP
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 Germany.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 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.
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 Germany.
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 Germany.
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 Spain.
MPLKIP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MPLKIP gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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