Familial isolated café-au-lait macules
Synonyms: CALs syndrome isolated · Familial CALMs isolated · Familial isolated CALSs · Familial isolated café-au-lait spots · Multiple isolated café-au-lait spots · Multiple isolated café-au-lait syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare hyperpigmentation of the skin characterized by the presence of several café-au-lait macules without any other manifestations of neurofibromatosis or any other systemic disorder. The macules may appear in infancy, but usually they are detected after 2 years of age. Hyperpigmented lesions may have smooth or irregular borders. Their size vary from a few millimeters to more than 10 cm.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated café-au-lait macules | CALs syndrome isolated · Familial CALMs isolated · Familial isolated CALSs · Familial isolated café-au-lait spots · Multiple isolated café-au-lait spots · Multiple isolated café-au-lait syndrome |
| fr | Maladie des tâches café-au-lait isolées | Maladie des taches café-au-lait isolées |
| de | Café-au-lait-Flecken, familiäre isolierte | CALF, familiäre isolierte · CALF-Syndrom, isoliertes · Familiäres Café-au-lait-Flecken-Syndrom · Multiple isolierte Café-au-lait-Flecken |
| es | Máculas café con leche aisladas familiares | Manchas café con leche aisladas familiares · Múltiples manchas café con leche aisladas · Síndrome aislado de múltiples manchas café con leche |
| it | Macchie caffè-latte isolate familiari | Macchie caffè-latte isolate multiple · Sindrome CALS isolate · Sindrome da macchie caffè-latte isolate multiple · CALM isolata familiare · CALS isolate familiari · Macchie caffè-latte isolate familiari |
| nl | Familiale geïsoleerde café-au-lait maculae | CALS-syndroom, geïsoleerd · Familiale CALMs, geïsoleerd · Familiale CALSs, geïsoleerd · Familiale geïsoleerde café-au-lait vlekken · Meervoudige geïsoleerde café-au-lait vlekken · Multipele geïsoleerde café-au-lait-syndroom |
| pt | Máculas café-com-leite isoladas familiar | CAL's isoladas familiar · CALMs isolada familiar · Manchas café-com-leite isoladas familiar · Manchas café-com-leite múltiplas isoladas · Síndrome CALs isolada · Síndrome de manchas café-com-leite isoladas múltiplas |
| pl | Rodzinnie występujące izolowane plamy cafe-au-lait | Mnogie plamy typu "kawa z mlekiem · NF6 · Rodzinne plamy typu "kawa z mlekiem · Zespół mnogich plam typu "kawa z mlekiem · Rodzinne izolowane plamy café-au-lait |
| cs | Neurofibromatóza, typ 6 | Familiární skvrny café-au-lait · NF6 · Mnohočetné café-au-lait skvrny · Mnohočetný café-au-lait syndrom |
| uk | Сімейні ізольовані макули кольору кави з молоком | Синдром CALs ізольований · Сімейний синдром CALs ізольований · Сімейні ізольовані кавові плями · Сімейні ізольовані CALSs · Множинні ізольовані кавові плями · Множинні ізольовані синдром кавових плям |
| zh | 神经纤维瘤病6型 | 多发性咖啡斑综合征 |
| tr | Nörofibromatoz tip 6 | NF6 · Ailesel café-au-lait noktaları · çoklu café-au-lait noktaları · çoklu café-au-lait sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114030 | E | validated | |
| ICD-10 | L81.3 | E | specific | validated |
| ICD-11 | EC23.0 | NTBT | index | validated |
| UMLS | C1861975 | E | validated | |
| GARD | 3967 | 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:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LZTR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6742 | ENSG00000099949 | 600574 | 22q11.21 | leucine zipper like post translational regulator 1 | 39140257[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007565 | Multiple cafe-au-lait spots | |
| Occasional (29-5%) | ||
| HP:0001480 | Freckling | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2678
- This record as JSON: /data/d/2678.json