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Disease Profile
PHIP-Related disorder
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Chung-Jansen syndrome; CHUJANS; Intellectual disability-overweight syndrome caused by PHIP haploinsufficiency;
Summary
PHIP-related disorder, also known as Chung-Jansen
Symptoms
Problems with behavior are common. People with PHIP-related disorder and the following behavioral conditions have been reported:[1]
Attention Deficit Hyperactivity Disorder (ADHD)
Features of
Problems with impulse control
Aggressive behavior
Mood disorder
Anxiety
In addition to learning and behavior problems, a tendency toward being overweight is common among people with PHIP-realted disorder.[1][2]
People with PHIP-related disorder can have unique physical features, including:[1][2]
High forehead
Full eyebrows with or without hair in between the brows
Upturned nose with thick nostrils
Long spacing between the nose and upper lip
Thin lips
Large ears
Thick helices and earlobes
Tapered fingers
Curved pinky finger
Slight webbing between the second and third toes
Urogenital problems
Vision problems
Differences in skin pigmentation
Fatigue
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
0000006 | ||
Cafe-au-lait spot | 0000957 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
High forehead | 0000348 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Impulsivity |
Impulsive
|
0100710 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Long philtrum | 0000343 | |
Macrotia |
Large ears
|
0000400 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Obesity |
Having too much body fat
|
0001513 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Short philtrum | 0000322 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Cause
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- The PHIP Kids (Chung-Jansen Syndrome) is an active Facebook group for people with loved ones with PHIP-related disorder.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Selected Full-Text Journal Articles
- Jansen S, Hoischen A, Coe BP, et al. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet. 2018;26(1):54–63.
- Webster E, Cho MT, Alexander N, Desai S, Naidu S, Bekheirnia MR, Lewis A, Retterer K, Juusola J, Chung WK. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001172.
References
- Jansen S et al.,. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet. 2018 Jan; 26(1):54-63. https://www.ncbi.nlm.nih.gov/pubmed/29209020. Accessed 4/12/2018.
- Chung WK et al.,. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. Nov 2016; 2(6):a001172. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111011/. Accessed 4/12/2018.
- de Ligt, J et al.,. Diagnostic exome sequencing in persons with severe intellectual disability. New Eng. J. Med. 2012; 367:1921-1929. https://www.nejm.org/doi/full/10.1056/NEJMoa1206524. Accessed 4/12/2018.
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