ORPHA:35069
PLA2G6-related neurodegeneration, infantile-onset
Synonyms: INAD · Infantile neuroaxonal dystrophy · Infantile PLAN · Infantile phospholipase A2-associated neurodegeneration · Seitelberger disease · PLA2G6-associated neurodegeneration, infantile-onset
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurodegeneration with brain iron accumulation (NBIA) disorder characterized by global developmental delay and eventual regression, increasing neurological involvement with symmetrical spastic tetraplegia, loss of cognitive and bulbar function, seizures and optic atrophy. The infantile form of PLAN, which has onset before three years of age, is most common relative to juvenile-onset and adult-onset forms, and individuals may present with symptoms anywhere along a continuum.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PLA2G6-related neurodegeneration, infantile-onset | INAD · Infantile neuroaxonal dystrophy · Infantile PLAN · Infantile phospholipase A2-associated neurodegeneration · Seitelberger disease · PLA2G6-associated neurodegeneration, infantile-onset |
| fr | Neurodégénérescence associée à PLA2G6 à début infantile | DNAI · Maladie de Seitelberger · Dystrophie neuroaxonale infantile · Neurodégénérescence associée à la phospholipase A2 infantile |
| de | PLA2G6-assoziierte Neurodegeneration, infantile Form | INAD · Infantile PLAN · Infantile neuroaxonale Dystrophie · Phospholipase A2-assoziierte Neurodegeneration mit Beginn im Kindesalter · Seitelberger Krankheit |
| es | Neurodegeneración asociada al gen PLA2G6 de inicio en la lactancia | Enfermedad de Seitelberger · INAD · Distrofia neuroaxonal infantil · Neurodegeneración asociada a fosfolipasa A2 en la lactancia · PLAN del lactante |
| it | Neurodegenerazione ad esordio infantile correlata a PLA2G6 | INAD · PLAN infantile · Malattia di Seitelberger · Distrofia neuroassonale infantile · Neurodegenerazione ad esordio infantile associata a PLA2G6 · Neurodegenerazione infantile associata alla fosfolipasi A2 |
| nl | PLA2G6-gerelateerde neurodegeneratie, infantiele aanvang | INAD · Infantiele neuroaxonale dystrofie · Neurodegeneratie geassocieerd met fosfolipase A2 bij zuigeling · Ziekte van Seitelberger · PLA2G6-eassocieerde neurodegeneratie beginnend op zuigelingenleeftijd · PLAN bij zuigeling |
| pt | Distrofia neuroaxonal do lactente | Doença de Seitelberger · INAD |
| pl | Dziecięca dystrofia neuroaksonalna | Choroba Seitelbergera · INAD · INAD1 · Neurodegeneracja zwiazana z fosfolipazą A2 · plAN |
| cs | Infantilní neuroaxonální dystrofie | INAD · INAD1 · PLAN · Neurodegenerace spojená s fosfolipázou A2 · Seitelbergerova nemoc |
| uk | Дитяча нейроаксональна дистрофія | ІНАД · INAD1 · Фосфоліпаза А2-асоційована нейродегенерація · PLAN · Хвороба Зайтельбергера |
| zh | 婴儿神经轴索营养不良 | 非钙依赖型磷脂酶A2相关性神经退行性病变 |
| tr | İnfantil nöroaksonal distrofi | INAD · PLAN · INAD1 · Seitelberger hastalığı · Fosfolipaz A2 ile ilişkili nörodejenerasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256600 | E | validated | |
| OMIM | 610217 | BTNT | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| UMLS | C0270724 | E | validated | |
| GARD | 3957 | E | validated | |
| MedDRA | 10088200 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:329303PLA2G6-related neurodegeneration
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2174Hunter-Carpenter-McDonald syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLA2G6 | Disease-causing germline mutation(s) in | Assessed | HGNC:9039 | ENSG00000184381 | 603604 | 22q13.1 | phospholipase A2 group VI |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
52 annotations · validated 2021-01-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002376 | Developmental regression | |
| HP:0002361 | Psychomotor deterioration | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0001251 | Ataxia | |
| HP:0008936 | Axial hypotonia | |
| HP:0002483 | Bulbar signs | |
| HP:0012698 | Cerebellar gliosis | |
| HP:0003405 | Diffuse axonal swelling | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus | |
| HP:0001347 | Hyperreflexia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0012675 | Iron accumulation in brain | |
| HP:0001268 | Mental deterioration | |
| HP:0000648 | Optic atrophy | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002191 | Progressive spasticity | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000618 | Blindness | |
| HP:0002019 | Constipation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0000712 | Emotional lability | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0000752 | Hyperactivity | |
| HP:0100710 | Impulsivity | |
| HP:0000639 | Nystagmus | |
| HP:0012043 | Pendular nystagmus | |
| HP:0000736 | Short attention span | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
| HP:0005968 | Temperature instability | |
| Very rare (<4-1%) | ||
| HP:0005949 | Apneic episodes in infancy | |
| HP:0030842 | Choking episodes | |
| HP:0010545 | Downbeat nystagmus | |
| HP:0001250 | Seizure | |
| HP:0025331 | Upgaze palsy | |
| HP:0031358 | Vegetative state | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27884548[PMID]_ 29409688[PMID]_20301718[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35069
- This record as JSON: /data/d/35069.json