Zellweger-like syndrome without peroxisomal anomalies
Synonyms: Ahn-Lerman-Sagie syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Mitochondrial inheritance
- Age of onset
- Childhood
- Status
- active
A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Zellweger-like syndrome without peroxisomal anomalies | Ahn-Lerman-Sagie syndrome |
| fr | Syndrome de Zellweger-like sans anomalies peroxysomales | Syndrome d'Ahn-Lerman-Sagie |
| de | Zellweger-ähnliches Syndrom ohne Anomalien der Peroxisomen | Ahn-Lerman-Sagie-Syndrom |
| es | Síndrome similar a Zellweger sin anomalías peroxisomales | Síndrome de Ahn-Lerman-Sagie · Síndrome de Zellweger-like sin anomalías peroxisomales |
| it | Sindrome simil-Zellweger senza anomalie perossisomiali | Sindrome di Ahn-Lerman-Sagie |
| nl | Zellweger-achtig syndroom zonder peroxisomale anomalieën | Syndroom van Ahn-Lerman-Sagie |
| pt | Síndrome Zellweger-like sem anomalias peroxissomais | Síndrome Ahn-Lerman-Sagie |
| pl | Zespół podobny do zespołu Zellwegera bez zaburzeń peroksysomalnych | Zespół Ahna, Lermana i Sagie'a |
| cs | Zellweger-like syndrom bez peroxizomálních anomálií | Ahnův-Lerman-Sagieové syndrom · Ahn-Lerman-Sagieové syndrom |
| uk | Синдром Целлвегера без пероксисомних аномалій | Синдром Ан-Лермана-Сагі |
| zh | 类Zellweger综合征伴过氧化物酶体异常 | Ahn-Lerman-Sagie综合症 |
| tr | Peroksizomal anomalileri olmayan Zellweger benzeri sendrom | Ahn-Lerman-Sagie sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | index | validated |
| MONDO | 0018861 | E | validated | |
| UMLS | C4305104 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 12784304[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12784304[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000298 | Mask-like facies | |
| HP:0000252 | Microcephaly | |
| HP:0000307 | Pointed chin | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0002299 | Brittle hair | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0004322 | Short stature | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12784304[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50812
- This record as JSON: /data/d/50812.json