ORPHA:3473
Zimmermann-Laband syndrome
Synonyms: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Zimmermann-Laband syndrome | Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome |
| fr | Syndrome de Zimmermann-Laband | Syndrome de Laband · Syndrome de fibromatose gingivale-hépatosplénomégalie-autres anomalies |
| de | Zimmerman-Laband-Syndrom | Laband-Syndrom |
| es | Síndrome de Zimmermann-Laband | Fibromatosis gingival-hepatosplenomegalia-otras anomalías · Síndrome de Laband |
| it | Sindrome di Zimmermann-Laband | Fibromatosi gengivale - epatosplenomegalia - altre anomalie · Sindrome di Laband |
| nl | Syndroom van Zimmermann-Laband | Gingivale fibromatose - hepatosplenomegalie - andere anomalieën-syndroom · Syndroom van Laband |
| pt | Síndrome Zimmerman-Laband | Síndrome de fibromatose gengival-hepatosplenomegalia-outras anomalias · Síndrome Laband |
| pl | Zespół Zimmermanna i Labanda | Fibromatoza dziąseł - hepatosplenomegalia - inne wady · Zespół Labanda |
| cs | Labandův-Zimmermannův syndrom | Syndrom zahrnující fibromatózu dásní, hepatosplenomegalii a další anomálie · Labandův syndrom · Laband-Zimmermannův syndrom |
| uk | Синдром Циммермана-Лабанда | Синдром фіброматозу ясен-гепатоспленомегалії-інших аномалій · Синдром Лабанда |
| zh | Zimmermann-Laband综合征 | 牙龈纤维瘤病-肝脾肿大-其它畸形综合征 |
| tr | Zimmermann-Laband sendromu | Laband sendromu · Gingival fibromatoz-hepatosplenomegali-diğer anomaliler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135500 | BTNT | validated | |
| OMIM | 616455 | BTNT | validated | |
| OMIM | 618658 | BTNT | validated | |
| OMIM | 618729 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0000200 | E | validated | |
| MeSH | C536725 | E | validated | |
| UMLS | C0796013 | E | validated | |
| GARD | 385 | E | validated | |
| MedDRA | 10081859 | 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 (4):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNN3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6292 | ENSG00000143603 | 602983 | 1q21.3 | potassium calcium-activated channel subfamily N member 3 | 31155282[PMID] |
| ATP6V1B2 | Disease-causing germline mutation(s) in | Assessed | HGNC:854 | ENSG00000147416 | 606939 | 8p21.3 | ATPase H+ transporting V1 subunit B2 | 25915598[PMID] |
| KCNH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6250 | ENSG00000143473 | 603305 | 1q32.2 | potassium voltage-gated channel subfamily H member 1 | 25915598[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 52 cases | Worldwide | Case(s) | Validated | 23994350[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 23994350[PMID]_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
43 annotations · validated 2019-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000169 | Gingival fibromatosis | |
| Frequent (79-30%) | ||
| HP:0001817 | Absent fingernail | |
| HP:0009102 | Anterior open-bite malocclusion | |
| HP:0000414 | Bulbous nose | |
| HP:0004554 | Generalized hypertrichosis | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0002265 | Large fleshy ears | |
| HP:0009894 | Thickened ears | |
| HP:0000154 | Wide mouth | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000811 | Abnormal external genitalia | |
| HP:0000193 | Bifid uvula | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002219 | Facial hypertrichosis | |
| HP:0008947 | Floppy infant | |
| HP:0001510 | Growth delay | |
| HP:0001822 | Hallux valgus | |
| HP:0002240 | Hepatomegaly | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000668 | Hypodontia | |
| HP:0000527 | Long eyelashes | |
| HP:0000158 | Macroglossia | |
| HP:0000347 | Micrognathia | |
| HP:0001761 | Pes cavus | |
| HP:0001763 | Pes planus | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0000977 | Soft skin | |
| HP:0001744 | Splenomegaly | |
| HP:0011069 | Supernumerary tooth | |
| HP:0000506 | Telecanthus | |
| HP:0000574 | Thick eyebrow | |
| Very rare (<4-1%) | ||
| HP:0006191 | Deep palmar crease | |
| HP:0001869 | Deep plantar creases | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0006391 | Overtubulated long bones | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27282200[PMID]_23994350[PMID]_26818898[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3473
- This record as JSON: /data/d/3473.json