Rare Psychiatry News
Advertisement
Disease Profile
AP-4-Associated Hereditary Spastic Paraplegia
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)
Severe intellectual disability and progressive spastic paraplegia; AP4 deficiency syndrome; Adaptor Protein Complex 4 Deficiency;
Summary
Orpha Number: 280763
Symptoms
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Progressive spastic paraplegia | 0007020 | |
30%-79% of people have these symptoms | ||
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Difficulty walking |
Difficulty in walking
|
0002355 |
0001332 | ||
Poor speech | 0002465 | |
Spastic |
0002464 | |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
5%-29% of people have these symptoms | ||
Abnormality of the periventricular white matter | 0002518 | |
Everted upper lip vermilion |
Outward turned upper lip
|
0010803 |
Febrile |
Fever induced seizures
|
0002373 |
Focal-onset seizure |
Seizure affecting one half of brain
|
0007359 |
Genu recurvatum |
Knee hyperextension
Back knee
[ more ] |
0002816 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Overweight | 0025502 | |
Pes planus |
Flat foot
Flat feet
[ more ] |
0001763 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Shyness | 0100962 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
1%-4% of people have these symptoms | ||
Acetabular dysplasia | 0008807 | |
Amblyopia |
Lazy eye
Wandering eye
[ more ] |
0000646 |
Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Percent of people who have these symptoms is not available through HPO | ||
Adducted thumb |
Inward turned thumb
|
0001181 |
0000007 | ||
Babinski sign | 0003487 | |
Bulbous nose | 0000414 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral palsy | 0100021 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Symptoms present at birth
|
0003577 | |
Decreased muscle mass | 0003199 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Drooling |
Dribbling
|
0002307 |
Dysarthria |
Difficulty articulating speech
|
0001260 |
Facial |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] |
0000297 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Gliosis | 0002171 | |
Global |
0001263 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Inability to walk | 0002540 | |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ] |
0003189 |
Loss of ability to walk | 0006957 | |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
Learn moreThese 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
Rare Psychiatry News |