ORPHA:333
Farber disease
Synonyms: Acid ceramidase deficiency · Farber lipogranulomatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Farber disease | Acid ceramidase deficiency · Farber lipogranulomatosis |
| fr | Maladie de Farber | Déficit en céramidase acide · Lipogranulomatose de Farber |
| de | Farber-Krankheit | Ceramidase-Mangel · Farber-Lipogranulomatose |
| es | Enfermedad de Farber | Deficiencia de ceramidasa · Lipogranulomatosis de Farber |
| it | Malattia di Farber | Deficit di ceramidasi · Lipogranulomatosi di Farber |
| nl | Ziekte van Farber | Ceramidasedeficiëntie · Lipogranulomatose van Farber · N-acylsfingosine-amidohydrolasedeficiëntie |
| pt | Doença de Farber | Deficiência de ceramidase · Lipogranulomatose de Farber |
| pl | Lipogranulomatoza Farbera | Choroba Farbera · Niedobór ceramidazy |
| cs | Farberova nemoc | Deficit kyselé ceramidázy · Farberova lipogranulomatóza |
| uk | Хвороба Фарбера | Дефіцит кислої церамідази · Ліпогранулематоз Фарбера |
| zh | 法伯病 | 酸性神经酰胺酶缺乏症 |
| tr | Farber hastalığı | Farber lipogranülomatozu · Asit seramidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228000 | E | validated | |
| ICD-10 | E75.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0009218 | E | validated | |
| MeSH | D055577 | E | validated | |
| UMLS | C0268255 | E | validated | |
| GARD | 6426 | E | validated | |
| MedDRA | 10083960 | 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 (7):
- ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:79225Sphingolipidosis
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:371442Sphingolipidosis with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASAH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:735 | ENSG00000104763 | 613468 | 8p22 | N-acylsphingosine amidohydrolase 1 | 24355074[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 96 cases | Worldwide | Case(s) | Validated | 29048419[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29048419[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.
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HPO phenotypes
70 annotations · validated 2020-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001369 | Arthritis | |
| HP:0001371 | Flexion contracture | |
| HP:0001609 | Hoarse voice | |
| HP:0001386 | Joint swelling | |
| HP:0007470 | Periarticular subcutaneous nodules | |
| Frequent (79-30%) | ||
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0002829 | Arthralgia | |
| HP:0000708 | Atypical behavior | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0003640 | Foam cells in visceral organs and CNS | |
| HP:0001263 | Global developmental delay | |
| HP:0001615 | Hoarse cry | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0000502 | Abnormal conjunctiva morphology | |
| HP:0005483 | Abnormal epiglottis morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0025423 | Abnormal larynx morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0001155 | Abnormality of the hand | |
| HP:0002815 | Abnormality of the knee | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0100750 | Atelectasis | |
| HP:0012444 | Brain atrophy | |
| HP:0007957 | Corneal opacity | |
| HP:0002376 | Developmental regression | |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations | |
| HP:0001618 | Dysphonia | |
| HP:0011968 | Feeding difficulties | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0006511 | Laryngeal stridor | |
| HP:0000608 | Macular degeneration | |
| HP:0002300 | Mutism | |
| HP:0001336 | Myoclonus | |
| HP:0025392 | Nodular pattern on pulmonary HRCT | |
| HP:0000939 | Osteoporosis | |
| HP:0001954 | Recurrent fever | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002098 | Respiratory distress | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001257 | Spasticity | |
| HP:0025405 | Visual fixation instability | |
| HP:0001612 | Weak cry | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0002028 | Chronic diarrhea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001399 | Hepatic failure | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001789 | Hydrops fetalis | |
| HP:0012469 | Infantile spasms | |
| HP:0006575 | Intrahepatic cholestasis with episodic jaundice | |
| HP:0001686 | Loss of voice | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000639 | Nystagmus | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0002385 | Paraparesis | |
| HP:0009381 | Short finger | |
| HP:0001831 | Short toe | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30029679[PMID]_29048419[PMID]_29595935[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/333
- This record as JSON: /data/d/333.json