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Disease Profile

AP-4-Associated Hereditary Spastic Paraplegia

Prevalence
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.

Unknown

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Severe intellectual disability and progressive spastic paraplegia; AP4 deficiency syndrome; Adaptor Protein Complex 4 Deficiency;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 280763

Definition
Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

Visit the Orphanet disease page for more resources.

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
Dystonia
0001332
Poor speech
0002465
Spastic dysarthria
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 seizure (within the age range of 3 months to 6 years)
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
Short stature
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
Strabismus
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
Autosomal recessive inheritance
0000007
Babinski sign
0003487
Bulbous nose
0000414
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral palsy
0100021
Coarse facial features
Coarse facial appearance
0000280
Congenital onset
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 hypotonia
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone

[ more ]

0000297
Flexion contracture
Flexed joint that cannot be straightened
0001371
Gliosis
0002171
Global developmental delay
0001263
Hyperreflexia
Increased reflexes
0001347
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Inability to walk
0002540
Intellectual disability, progressive
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
Microcephaly
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 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

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