ORPHA:44
Neonatal adrenoleukodystrophy
Synonyms: Intermediate PBD-ZSD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder · NALD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) characterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal adrenoleukodystrophy | Intermediate PBD-ZSD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder · NALD |
| fr | Adrénoleucodystrophie néonatale | ABP-MSZ, forme intermédiaire · Anomalie de la biogenèse du péroxysome-maladie du spectre de Zellweger, forme intermédiaire · NALD |
| de | Adrenoleukodystrophie, neonatale Form | Intermediäres PBD-ZSD · NALD · Peroxisomenbiogenesedefekt-Zellweger-Spektrum-Störung, intermediäre Form |
| es | Adrenoleucodistrofia neonatal | NALD · PBD-ZSD intermedio · Trastorno de la biogénesis del peroxisoma-trastorno del espectro Zellweger intermedio |
| it | Adrenoleucodistrofia neonatale | Difetto intermedio della biogenesi dei perossisomi-spettro della sindrome di Zellweger · NALD · PBD-ZSD intermedio |
| nl | Neonatale adrenoleukodystrofie | Intermediaire PBD-ZSD · Intermediaire peroxisomale biogenesestoornis - Zellweger spectrum stoornis · NALD |
| pt | Adrenoleucodistrofia neonatal | Doença do espectro Zellweger-disfunção intermédia da biogénese dos peroxissomas · NALD · PBD-ZSD intermédio |
| pl | Adrenoleukodystrofia noworodkowa | NALD |
| cs | Neonatální adrenoleukodystrofie | NALD |
| uk | Неонатальна адренолейкодистрофія | Проміжний PBD-ZSD · Порушення біогенезу проміжних пероксисом - розлад спектра Целльвегера · NALD |
| zh | 新生儿肾上腺脑白质营养不良 | NALD |
| tr | Yenidoğan adrenolökodistrofi | NALD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202370 | BTNT | validated | |
| OMIM | 266510 | BTNT | validated | |
| OMIM | 601539 | NTBT | validated | |
| OMIM | 614863 | NTBT | validated | |
| OMIM | 614867 | BTNT | validated | |
| OMIM | 614871 | BTNT | validated | |
| OMIM | 614873 | BTNT | validated | |
| OMIM | 614877 | BTNT | validated | |
| OMIM | 614885 | BTNT | validated | |
| OMIM | 614920 | BTNT | validated | |
| OMIM | 617370 | NTBT | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5A74.Y | NTBT | index | validated |
| MONDO | 0018598 | E | validated | |
| UMLS | C0282525 | E | validated | |
| GARD | 559 | 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 (6):
- ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:225686Peroxisomal disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79189Peroxisome biogenesis disorder
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hepatic diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8850 | ENSG00000127980 | 602136 | 7q21.2 | peroxisomal biogenesis factor 1 | |
| PEX10 | Disease-causing germline mutation(s) in | Assessed | HGNC:8851 | ENSG00000157911 | 602859 | 1p36.32 | peroxisomal biogenesis factor 10 | |
| PEX11B | Disease-causing germline mutation(s) in | Assessed | HGNC:8853 | ENSG00000131779 | 603867 | 1q21.1 | peroxisomal biogenesis factor 11 beta | |
| PEX12 | Disease-causing germline mutation(s) in | Assessed | HGNC:8854 | ENSG00000108733 | 601758 | 17q12 | peroxisomal biogenesis factor 12 | |
| PEX13 | Disease-causing germline mutation(s) in | Assessed | HGNC:8855 | ENSG00000162928 | 601789 | 2p15 | peroxisomal biogenesis factor 13 | |
| PEX14 | Disease-causing germline mutation(s) in | Assessed | HGNC:8856 | ENSG00000142655 | 601791 | 1p36.22 | peroxisomal biogenesis factor 14 | |
| PEX16 | Disease-causing germline mutation(s) in | Assessed | HGNC:8857 | ENSG00000121680 | 603360 | 11p11.2 | peroxisomal biogenesis factor 16 | |
| PEX19 | Disease-causing germline mutation(s) in | Assessed | HGNC:9713 | ENSG00000162735 | 600279 | 1q23.2 | peroxisomal biogenesis factor 19 | |
| PEX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9717 | ENSG00000164751 | 170993 | 8q21.13 | peroxisomal biogenesis factor 2 | |
| PEX26 | Disease-causing germline mutation(s) in | Assessed | HGNC:22965 | ENSG00000215193 | 608666 | 22q11.21 | peroxisomal biogenesis factor 26 | |
| PEX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8858 | ENSG00000034693 | 603164 | 6q24.2 | peroxisomal biogenesis factor 3 | |
| PEX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:9719 | ENSG00000139197 | 600414 | 12p13.31 | peroxisomal biogenesis factor 5 | |
| PEX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8859 | ENSG00000124587 | 601498 | 6p21.1 | peroxisomal biogenesis factor 6 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0100022 | Abnormality of movement | |
| HP:0001392 | Abnormality of the liver | |
| HP:0000463 | Anteverted nares | |
| HP:0002376 | Developmental regression | |
| HP:0000268 | Dolichocephaly | |
| HP:0002353 | EEG abnormality | |
| HP:0000348 | High forehead | |
| HP:0001347 | Hyperreflexia | |
| HP:0001252 | Hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000518 | Cataract | |
| HP:0000256 | Macrocephaly | |
| HP:0000508 | Ptosis | |
| HP:0000505 | Visual impairment | |
| HP:0000260 | Wide anterior fontanel | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/44
- This record as JSON: /data/d/44.json