WAC gene related symptoms and diseases
All the information presented here about the WAC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to WAC gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Synophrys | Uncommon - Between 30% and 50% cases |
| Thin upper lip vermilion | Uncommon - Between 30% and 50% cases |
| Deeply set eye | Uncommon - Between 30% and 50% cases |
| Anxiety | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with WAC gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Aggressive behavior
- Abnormality of the pinna
- Attention deficit hyperactivity disorder
- Broad forehead
- Astigmatism
- Hyperactivity
- Bulbous nose
- Thick eyebrow
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to WAC gene
Here you will find a list of rare diseases related to the WAC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION
Alternate names
FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities
Description
DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).
Most common symptoms of FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION
FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO 10P11.21P12.31 MICRODELETION
Alternate names
FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO 10P11.21P12.31 MICRODELETION Is also known as del(10)(p11.21p12.31), 10p12p11 microdeletion syndrome, monosomy 10p11.21p12.31, deletion 10p11.21p12.31
Description
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.
More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO 10P11.21P12.31 MICRODELETION
SOURCES: ORPHANET
Search interest in WAC
Potential gene panels for WAC gene
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.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
WAC Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the WAC gene.
More info about this panel United States.
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