Zimmerman Laband Syndrome

Last update 08 May 2025

Basic Info

Synonyms

FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE, AND EARS, AND SPLENOMEGALY, Fibromatosis, Gingival, With Abnormal Fingers, Fingernails, Nose And Ears, And Splenomegaly, Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome

+ [14]

Introduction

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.

100 Clinical Results associated with Zimmerman Laband Syndrome

100 Translational Medicine associated with Zimmerman Laband Syndrome

0 Patents (Medical) associated with Zimmerman Laband Syndrome

Literatures (Medical) associated with Zimmerman Laband Syndrome

01 Oct 2024·Human Genetics and Genomics Advances

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Article

Author: Hüffmeier, Ulrike ; Auvin, Stéphane ; Ferilli, Marco ; Thiel, Christian T ; Neustad, Ahna ; Russell, Bianca E. ; Calderan, Cristina ; Pierri, Nicola Brunetti ; Smith, Clay ; Lourenco, Charles Marques ; Thiel, Christian T. ; Bocchinfuso, Gianfranco ; Capri, Yline ; Cohen, Julie S. ; Mignot, Cyril ; Zampino, Giuseppe ; Ciolfi, Andrea ; Heidlebaugh, Alexis ; Brunetti Pierri, Nicola ; Tartaglia, Marco ; Reis, André ; Cecchetti, Serena ; Salviati, Leonardo ; Cohen, Julie S ; Messina, Elena ; Radio, Francesca Clementina ; Keren, Boris ; Flex, Elisabetta ; Caputo, Viviana ; Leoni, Chiara ; Campeau, Philippe M ; Onesimo, Roberta ; Stella, Lorenzo ; Calligari, Paolo ; Russell, Bianca E ; Cappuccio, Gerarda ; Carpentieri, Giovanna ; Martinelli, Simone ; Campeau, Philippe M. ; Pietrantoni, Agostina

The vacuolar H⁺-ATPase (V-ATPase) is a functionally conserved multimeric complex localized at the membranes of many organelles where its proton-pumping action is required for proper lumen acidification. The V-ATPase complex is composed of several subunits, some of which have been linked to human disease. We and others previously reported pathogenic dominantly acting variants in ATP6V1B2, the gene encoding the V1B2 subunit, as underlying a clinically variable phenotypic spectrum including dominant deafness-onychodystrophy (DDOD) syndrome, Zimmermann-Laband syndrome (ZLS), and deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures (DOORS) syndrome. Here, we report on an individual with features fitting DOORS syndrome caused by dysregulated ATP6V1C1 function, expand the clinical features associated with ATP6V1B2 pathogenic variants, and provide evidence that these ATP6V1C1/ATP6V1B2 amino acid substitutions result in a gain-of-function mechanism upregulating V-ATPase function that drives increased lysosomal acidification. We demonstrate a disruptive effect of these ATP6V1B2/ATP6V1C1 variants on lysosomal morphology, localization, and function, resulting in a defective autophagic flux and accumulation of lysosomal substrates. We also show that the upregulated V-ATPase function affects cilium biogenesis, further documenting pleiotropy. This work identifies ATP6V1C1 as a new gene associated with a neurodevelopmental phenotype resembling DOORS syndrome, documents the occurrence of a phenotypic continuum between ZLS, and DDOD and DOORS syndromes, and classify these conditions as lysosomal disorders.

01 Jan 2024·Journal of Clinical Pediatric Dentistry

Clinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report

Article

Author: Yang, Xiaoxue ; Fu, Fei ; Xuan, Kun ; Liu, Mingyuan ; Guo, Xiaohe ; Guo, Hao ; Huang, Xiaoyao ; Wu, Meiling ; Li, Shijie ; Liu, Anqi ; Gu, Yang

Zimmermann-Laband Syndrome (ZLS; MIM 135500) is a rare genetic disorder with the main clinical manifestations of gingival fibromatosis and finger/toe nail hypoplasia. KCNH1 (potassium channel, voltage-gated, subfamily H, member-1), KCNN3 (potassium channel, voltage-gated, subfamily H, member-3) and ATP6V1B2 (ATPase H⁺ transporting V1 subunit B2) genes are considered causative genes for ZLS. However, there are limited reports about the diverse clinical presentation and genetic heterogeneity. Reporting more information on phenotype-genotype correlation and the treatment of ZLS is necessary. This case reported a 2-year-old patient with gingival enlargement that failure of eruption of the deciduous teeth and severe hypoplasia of nails. Based on a systemic examination and a review of the relevant literature, we made an initial clinical diagnosis of ZLS. A novel pathogenic variant in the KCNH1 gene was identified using whole-exome sequencing to substantiate our preliminary diagnosis. The histopathological results were consistent with gingival fibromatosis. Gingivectomy and gingivoplasty were performed under general anesthesia. After surgery, the gingival appearance improved significantly, and the masticatory function of the teeth was restored. After 2-year follow-up, the gingival showed slightly hyperplasia. Systemic examination and gene sequencing firstly contribute to provide information for an early diagnosis for ZLS, then timely removal of the hyperplastic gingival facilitates the establishment of a normal occlusal relationship and improves oral aesthetics.

01 Nov 2023·Journal of Indian Society of Periodontology

Zimmermann–Laband syndrome-associated hereditary gingival fibromatosis

Author: Thangavel, Priyangha ; Dharani, Kalaiselvan ; Kshirsagar, Jaishree Tukaram

AbstractHereditary gingival fibromatosis (HGF) is an uncommon slow-growing fibrous overgrowth characterized by connective tissue accumulation. It presents as an isolated feature or as a manifestation of any syndrome. Various syndromes associated with HGF are inherited by autosomal dominant/recessive/X-linked traits. Zimmermann–Laband syndrome (ZLS) is a rare, autosomal dominant inherited disease manifested with gingival fibromatosis (GF), nose and ears abnormalities, and hypoplastic/dysplastic nails or terminal phalanges of hand and feet. Although the pattern of inheritance was found to be both autosomal dominant and recessive traits, the molecular basis is still unclear. This report presents a possible case of ZLS-associated HGF in a 25-year-old female patient who presents with GF, hypertrichosis, and other syndrome-related features. Her father was similarly affected whereas her mother and sibling were asymptomatic. The patient and her family members were explained about the condition and surgical periodontal therapy was carried out for the patient to improve esthetics and was followed up regularly. Esthetics was significantly improved and no recurrence was noted at the end of 6 months.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

Zimmerman Laband Syndrome

Basic Info

Related

Analysis