Holoprosencephaly 4; Hpe4

Description

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Clinical Features

Phenotypes and symptoms related to Holoprosencephaly 4; Hpe4

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip
  • Median cleft lip and palate
  • Semilobar holoprosencephaly
  • Absent nasal septal cartilage

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Holoprosencephaly 4; Hpe4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Holoprosencephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, SIX3, TGIF1, ZIC2, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL, PTCH1
Specificity
8 %
Genes
100 %
Holoprosencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
10 %
Genes
100 %
Holoprosencephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
10 %
Genes
100 %
Holoprosencephaly Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SHH, SIX3, TGIF1, ZIC2, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1
Specificity
10 %
Genes
100 %
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SHH, SIX3, TGIF1, ZIC2, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1
Specificity
10 %
Genes
100 %
TGIF. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TGIF1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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