ZLS1
MCID: ZMM002
MIFTS: 34
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Zimmermann-Laband Syndrome 1 (ZLS1)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Zimmermann-Laband Syndrome 1:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
majority of cases are sporadic HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Oral diseases Ear diseases Smell/Taste diseases Liver diseases |
GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3473DefinitionZimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.EpidemiologyForty-four patients have been reported to date.Clinical descriptionCoarse facial appearance includes bulbous soft nose, thickened lips, thick and floppy ears and gingival hypertrophy or fibromatosis. The syndrome has a highly variable clinical expression, and other possible features include hyperextensibility of joints, hepatosplenomegaly, hypertrichosis and hearing loss. Intellectual deficit is occasional and usually mild to moderate. The overgrown gingival tissues can affect the ability to speak.EtiologyThe genetic basis is unknown. Mapping of breakpoints of two translocations t(3;8) and t(3;17) found in two patients with the typical clinical features of Zimmermann-Laband syndrome defined a common breakpoint region located in 3p14.3 but the lack of a specific coding-sequence lesion in the common region suggests that either some other type of genetic defect in this vicinity, or an alteration elsewhere in the genome, could be responsible for ZLS. Autosomal dominant inheritance has been suggested.Differential diagnosisThe differential diagnosis includes other defined syndromes of hirsutism and coarsening of the face. Isolated gingival fibromatosis has been documented as a dominantly transmissible trait.Management and treatmentTreatment consists of surgical removal of the hyperplasic fibrous tissue and appropriate orthodontic treatment to improve esthetic appearance and eruption of the non-erupted teeth.PrognosisPrognosis is dominated by the risk of recurrence, which is high. Physical systemic evaluation is essential. The syndrome is not life-threatening.Visit the Orphanet disease page for more resources.
MalaCards based summary : Zimmermann-Laband Syndrome 1, also known as laband syndrome, is related to zimmermann-laband syndrome and hypertrichosis, and has symptoms including seizures An important gene associated with Zimmermann-Laband Syndrome 1 is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Related phenotypes are hearing impairment and intellectual disability, severe OMIM® : 57 Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010). (135500) (Updated 05-Mar-2021) UniProtKB/Swiss-Prot : 73 Zimmermann-Laband syndrome 1: A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS1 inheritance is autosomal dominant. |
Human phenotypes related to Zimmermann-Laband Syndrome 1:31 (show all 36)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:135500 (Updated 05-Mar-2021)UMLS symptoms related to Zimmermann-Laband Syndrome 1:seizures |
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Articles related to Zimmermann-Laband Syndrome 1:(show all 28)
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ClinVar genetic disease variations for Zimmermann-Laband Syndrome 1:6 (show all 13)
UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 1:73
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Search
GEO
for disease gene expression data for Zimmermann-Laband Syndrome 1.
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Cellular components related to Zimmermann-Laband Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Zimmermann-Laband Syndrome 1 according to GeneCards Suite gene sharing:
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