MCID: ZMM002
MIFTS: 38

Zimmermann-Laband Syndrome 1

Categories: Genetic diseases, Rare diseases, Oral diseases, Fetal diseases, Neuronal diseases, Liver diseases, Smell/Taste diseases, Ear diseases

Aliases & Classifications for Zimmermann-Laband Syndrome 1

MalaCards integrated aliases for Zimmermann-Laband Syndrome 1:

Name: Zimmermann-Laband Syndrome 1 53 71 28
Laband Syndrome 53 49 71
Fibromatosis, Gingival, with Abnormal Fingers, Fingernails, Nose, and Ears, and Splenomegaly 53 71
Zimmerman Laband Syndrome 49 69
Zls1 53 71
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears, and Splenomegaly 49
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears and Splenomegaly 71
Fibromatosis Gingival, Hepatosplenomegaly Other Anomalies 49
Zimmermann Laband Syndrome 71
Zls 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic


HPO:

31
zimmermann-laband syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Zimmermann-Laband Syndrome 1

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3473Disease definitionZimmermann-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. Last updated: 11/1/2011

MalaCards based summary : Zimmermann-Laband Syndrome 1, also known as laband syndrome, is related to zimmermann-laband syndrome and gingival fibromatosis, and has symptoms including seizures, high palate and scoliosis. An important gene associated with Zimmermann-Laband Syndrome 1 is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Affiliated tissues include skin.

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 Zimmermann-Laband syndrome 1: A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears.

Related Diseases for Zimmermann-Laband Syndrome 1

Diseases in the Zimmermann-Laband Syndrome family:

Zimmermann-Laband Syndrome 1 Zimmermann-Laband Syndrome 2

Diseases related to Zimmermann-Laband Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 32.6 ATP6V1B2 KCNH1
2 gingival fibromatosis 29.3 ATP6V1B2 KCNH1
3 zimmermann-laband syndrome 2 12.2
4 hypertrichosis, congenital generalized, with or without gingival hyperplasia 10.9
5 autosomal dominant deafness-onychodystrophy syndrome 10.9
6 gingivitis 10.2
7 fibromatosis 10.1
8 hypertrichosis 10.1
9 fibromatosis, gingival, 1 9.8
10 teeth, supernumerary 9.8
11 retinitis pigmentosa 9.8
12 leber congenital amaurosis 4 9.8
13 patent ductus arteriosus 1 9.8
14 temple-baraitser syndrome 9.8
15 cataract 9.8
16 brachydactyly 9.8
17 biliary atresia 9.8
18 retinitis 9.8

Graphical network of the top 20 diseases related to Zimmermann-Laband Syndrome 1:



Diseases related to Zimmermann-Laband Syndrome 1

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe in some patients

Abdomen Spleen:
splenomegaly

Abdomen External Features:
umbilical hernia

Head And Neck Eyes:
myopia
synophrys
thick eyebrows
cataracts

Skin Nails Hair Hair:
synophrys
hirsutism
hypertrichosis
thick eyebrows

Head And Neck Ears:
posteriorly rotated ears
long, lobulated ears
hearing loss, bilateral sensorineural (rare)

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Face:
coarse facies
prominent mandible

Growth Weight:
birthweight greater than 90th percentile

Genitourinary Kidneys:
renal calculi (rare)

Skin Nails Hair Skin:
dry, thick skin

Metabolic Features:
diabetes, nonautoimmune (rare)

Skeletal Spine:
scoliosis
spina bifida occulta

Abdomen Liver:
hepatomegaly
extrahepatic biliary atresia (rare)

Cardiovascular Vascular:
patent ductus arteriosus
aortic root dilatation
aortic arch dilatation

Cardiovascular Heart:
cardiomyopathy

Head And Neck Mouth:
gingival fibromatosis
high-arched palate
thick lips
gingival hyperplasia

Head And Neck Nose:
broad nasal bridge
fleshy nose

Head And Neck Teeth:
delayed tooth eruption

Skeletal Hands:
hyperextensible fingers
hypoplastic distal phalanges

Genitourinary External Genitalia Male:
enlarged penis

Skeletal Feet:
hypoplastic distal phalanges

Muscle Soft Tissue:
poor muscle bulk


Clinical features from OMIM:

135500

Human phenotypes related to Zimmermann-Laband Syndrome 1:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 high palate 31 HP:0000218
3 scoliosis 31 HP:0002650
4 gingival overgrowth 31 HP:0000212
5 coarse facial features 31 HP:0000280
6 mandibular prognathia 31 HP:0000303
7 hearing impairment 31 occasional (7.5%) HP:0000365
8 cataract 31 HP:0000518
9 splenomegaly 31 HP:0001744
10 hepatomegaly 31 HP:0002240
11 wide nasal bridge 31 HP:0000431
12 umbilical hernia 31 HP:0001537
13 thick eyebrow 31 HP:0000574
14 intellectual disability, severe 31 occasional (7.5%) HP:0010864
15 thick lower lip vermilion 31 HP:0000179
16 delayed eruption of teeth 31 HP:0000684
17 patent ductus arteriosus 31 HP:0001643
18 myopia 31 HP:0000545
19 cardiomyopathy 31 HP:0001638
20 intellectual disability, progressive 31 occasional (7.5%) HP:0006887
21 small nail 31 HP:0001792
22 nephrolithiasis 31 occasional (7.5%) HP:0000787
23 spina bifida occulta 31 HP:0003298
24 long penis 31 HP:0000040
25 short distal phalanx of finger 31 HP:0009882
26 synophrys 31 HP:0000664
27 gingival fibromatosis 31 HP:0000169
28 generalized hypotonia 31 HP:0001290
29 posteriorly rotated ears 31 HP:0000358
30 hirsutism 31 HP:0001007
31 short distal phalanx of toe 31 HP:0001857
32 aortic root aneurysm 31 HP:0002616
33 growth abnormality 31 HP:0001507
34 hyperextensibility of the finger joints 31 HP:0001187
35 aortic arch aneurysm 31 HP:0005113

UMLS symptoms related to Zimmermann-Laband Syndrome 1:


seizures

Drugs & Therapeutics for Zimmermann-Laband Syndrome 1

Search Clinical Trials , NIH Clinical Center for Zimmermann-Laband Syndrome 1

Genetic Tests for Zimmermann-Laband Syndrome 1

Genetic tests related to Zimmermann-Laband Syndrome 1:

# Genetic test Affiliating Genes
1 Zimmermann-Laband Syndrome 1 28 KCNH1

Anatomical Context for Zimmermann-Laband Syndrome 1

MalaCards organs/tissues related to Zimmermann-Laband Syndrome 1:

38
Skin

Publications for Zimmermann-Laband Syndrome 1

Articles related to Zimmermann-Laband Syndrome 1:

(show all 31)
# Title Authors Year
1
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? ( 27282200 )
2016
2
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. ( 25915598 )
2015
3
The orthodontic and surgical management of Zimmerman-Laband syndrome. ( 23646327 )
2013
4
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. ( 23994350 )
2013
5
Zimmermann-Laband syndrome: a case report. ( 22838235 )
2012
6
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. ( 21626675 )
2011
7
Wide clinical spectrum in Zimmermann-Laband syndrome. ( 21614982 )
2011
8
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. ( 20009591 )
2010
9
Report of a case of Zimmermann-Laband syndrome with new manifestations. ( 20457511 )
2010
10
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. ( 18541964 )
2008
11
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. ( 17937436 )
2007
12
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. ( 17163523 )
2007
13
Ultrastructural investigation of Zimmermann-Laband syndrome. ( 17182434 )
2006
14
Zimmermann-Laband syndrome in an infant with an atypical histologic finding. ( 16267629 )
2005
15
Zimmermann-Laband syndrome: further clinical delineation. ( 16261693 )
2005
16
Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome. ( 16171447 )
2005
17
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? ( 14706033 )
2004
18
Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions. ( 12599195 )
2003
19
A case of Zimmermann-Laband syndrome with supernumerary teeth. ( 14514238 )
2003
20
Zimmerman-Laband syndrome: An unusually early presentation in a newborn girl. ( 9933906 )
1999
21
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. ( 9674908 )
1998
22
Zimmermann-Laband syndrome in a patient with severe mental retardation. ( 8775419 )
1995
23
Laband syndrome. Report of two cases, review of the literature, and identification of additional manifestations. ( 8078665 )
1994
24
Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes. ( 7811425 )
1994
25
A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. ( 1361289 )
1992
26
Familial gingival hyperplasia: a case of pseudo-Laband syndrome. ( 1364330 )
1992
27
Hereditary gingival fibromatosis in a family with the Zimmermann-Laband syndrome. ( 1804991 )
1991
28
Laband syndrome: a case report. ( 2250229 )
1990
29
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. ( 3228149 )
1988
30
Zimmerman-Laband syndrome and profound mental retardation. ( 3789014 )
1986
31
Laband syndrome: report of case. ( 283203 )
1979

Variations for Zimmermann-Laband Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 1:

71
# Symbol AA change Variation ID SNP ID
1 KCNH1 p.Ile494Val VAR_072614 rs727502819
2 KCNH1 p.Ser352Tyr VAR_073957 rs730882172
3 KCNH1 p.Gly375Arg VAR_073958 rs730882174
4 KCNH1 p.Leu379Val VAR_073959 rs730882176
5 KCNH1 p.Val383Leu VAR_073960 rs730882173
6 KCNH1 p.Gly496Arg VAR_073961 rs730882175

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNH1 NM_172362.2(KCNH1): c.1480A> G (p.Ile494Val) single nucleotide variant Pathogenic rs727502819 GRCh37 Chromosome 1, 210977491: 210977491
2 KCNH1 NM_002238.3(KCNH1): c.1405G> A (p.Gly469Arg) single nucleotide variant Pathogenic rs730882175 GRCh37 Chromosome 1, 210977485: 210977485
3 KCNH1 NM_002238.3(KCNH1): c.1066G> C (p.Val356Leu) single nucleotide variant Pathogenic rs730882173 GRCh38 Chromosome 1, 210919955: 210919955
4 KCNH1 NM_002238.3(KCNH1): c.1054C> G (p.Leu352Val) single nucleotide variant Pathogenic rs730882176 GRCh37 Chromosome 1, 211093309: 211093309
5 KCNH1 NM_002238.3(KCNH1): c.1042G> A (p.Gly348Arg) single nucleotide variant Pathogenic rs730882174 GRCh38 Chromosome 1, 210919979: 210919979
6 ATP6V1B2 NM_001693.3(ATP6V1B2): c.1454G> C (p.Arg485Pro) single nucleotide variant Pathogenic rs730882177 GRCh38 Chromosome 8, 20220320: 20220320

Expression for Zimmermann-Laband Syndrome 1

Search GEO for disease gene expression data for Zimmermann-Laband Syndrome 1.

Pathways for Zimmermann-Laband Syndrome 1

GO Terms for Zimmermann-Laband Syndrome 1

Cellular components related to Zimmermann-Laband Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.62 ATP6V1B2 KCNH1

Biological processes related to Zimmermann-Laband Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 8.96 ATP6V1B2 KCNH1
2 ion transmembrane transport GO:0034220 8.62 ATP6V1B2 KCNH1

Sources for Zimmermann-Laband Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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