Holoprosencephaly 9; Hpe9

Description

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Holoprosencephaly 9; Hpe9

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism
  • Depressed nasal bridge
  • Macrocephaly
  • Ventricular septal defect
  • Respiratory distress
  • Hydrocephalus

And another 53 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Holoprosencephaly 9; Hpe9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies, pituitary anomalies with holoprosencephaly-like features.

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 9; Hpe9 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 %
GLI2. Complete sequencing.

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

GLI2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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