HERC1 gene related symptoms and diseases
All the information presented here about the HERC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HERC1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Lumbar hyperlordosis | Uncommon - Between 30% and 50% cases |
| Kyphoscoliosis | Uncommon - Between 30% and 50% cases |
| Pes planus | Uncommon - Between 30% and 50% cases |
| Difficulty walking | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HERC1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Joint laxity
- Hyperlordosis
- Prominent nasal bridge
- Arachnodactyly
- Long face
- Abnormal cerebellum morphology
- Triangular face
- Overgrowth
And 46 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HERC1 gene
Here you will find a list of rare diseases related to the HERC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
Description
Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).
Most common symptoms of MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
SOURCES: OMIM
MEGALENCEPHALY-SEVERE KYPHOSCOLIOSIS-OVERGROWTH SYNDROME
Search interest in HERC1
Potential gene panels for HERC1 gene
Macrocephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Deletion/Duplication Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
Macrocephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Sequencing Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Macrocephaly, dysmorphic facies, and psychomotor retardation (sequence analysis of HERC1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HERC1 gene.
More info about this panel Portugal.
Macrocephaly, dysmorphic facies, and psychomotor retardation (sequence analysis of HERC1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HERC1 gene.
More info about this panel Portugal.
HERC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HERC1 gene.
More info about this panel United States.
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