MCID: ZMM002
MIFTS: 32

Zimmermann-Laband Syndrome 1

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

Aliases & Classifications for Zimmermann-Laband Syndrome 1

MalaCards integrated aliases for Zimmermann-Laband Syndrome 1:

Name: Zimmermann-Laband Syndrome 1 54 24 71 29
Zimmerman Laband Syndrome 50 69
Laband Syndrome 50 71
Fibromatosis, Gingival, with Abnormal Fingers, Fingernails, Nose, and Ears, and Splenomegaly 71
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears, and Splenomegaly 50
Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears and Splenomegaly 71
Fibromatosis Gingival, Hepatosplenomegaly Other Anomalies 50
Zimmermann Laband Syndrome 71
Zls1 71
Zls 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic


HPO:

32
zimmermann-laband syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Zimmermann-Laband Syndrome 1

NIH Rare Diseases : 50 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 zimmerman laband syndrome, is related to zimmermann-laband syndrome 2 and zimmermann-laband syndrome, and has symptoms including scoliosis, hirsutism and umbilical hernia. An important gene associated with Zimmermann-Laband Syndrome 1 is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Affiliated tissues include skin.

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.

OMIM : 54
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)

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 16)
id Related Disease Score Top Affiliating Genes
1 zimmermann-laband syndrome 2 12.1
2 zimmermann-laband syndrome 12.1
3 hypertrichosis, congenital generalized, with or without gingival hyperplasia 10.8
4 autosomal dominant deafness-onychodystrophy syndrome 10.8
5 gingivitis 10.1
6 gingival fibromatosis 10.1
7 fibromatosis 10.1
8 hypertrichosis 10.0
9 temple-baraitser syndrome 9.7
10 cataract 9.7
11 retinitis pigmentosa 9.7
12 brachydactyly 9.7
13 biliary atresia 9.7
14 patent ductus arteriosus 9.7
15 retinitis 9.7
16 bilateral polymicrogyria 9.2 ATP6V1B2 KCNH1

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:

54

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

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

Skin Nails & Hair- Hair:
thick eyebrows
hypertrichosis
hirsutism
synophrys

Skin Nails & Hair- Nails:
hypoplastic nails

Abdomen- Liver:
hepatomegaly
extrahepatic biliary atresia (rare)

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

Cardiovascular- Heart:
cardiomyopathy

Skeletal- Hands:
hyperextensible fingers
hypoplastic distal phalanges

Head And Neck- Teeth:
delayed tooth eruption

Genitourinary- Kidneys:
renal calculi (rare)

Skin Nails & Hair- Skin:
dry, thick skin

Metabolic Features:
diabetes, nonautoimmune (rare)

Skeletal- Spine:
scoliosis
spina bifida occulta

Head And Neck- Face:
coarse facies
prominent mandible

Head And Neck- Eyes:
thick eyebrows
myopia
cataracts
synophrys

Abdomen- External Features:
umbilical hernia

Abdomen- Spleen:
splenomegaly

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

Head And Neck- Nose:
broad nasal bridge
fleshy nose

Growth- Weight:
birthweight greater than 90th percentile

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:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 hirsutism 32 HP:0001007
3 umbilical hernia 32 HP:0001537
4 myopia 32 HP:0000545
5 nephrolithiasis 32 occasional (7.5%) HP:0000787
6 intellectual disability, severe 32 occasional (7.5%) HP:0010864
7 hepatomegaly 32 HP:0002240
8 splenomegaly 32 HP:0001744
9 seizures 32 HP:0001250
10 coarse facial features 32 HP:0000280
11 patent ductus arteriosus 32 HP:0001643
12 posteriorly rotated ears 32 HP:0000358
13 cataract 32 HP:0000518
14 cardiomyopathy 32 HP:0001638
15 wide nasal bridge 32 HP:0000431
16 spina bifida occulta 32 HP:0003298
17 synophrys 32 HP:0000664
18 gingival fibromatosis 32 HP:0000169
19 aortic root dilatation 32 HP:0002616
20 high palate 32 HP:0000218
21 muscular hypotonia 32 HP:0001252
22 thick lower lip vermilion 32 HP:0000179
23 delayed eruption of teeth 32 HP:0000684
24 gingival overgrowth 32 HP:0000212
25 thick eyebrow 32 HP:0000574
26 dilatation of the aortic arch 32 HP:0005113
27 intellectual disability, progressive 32 occasional (7.5%) HP:0006887
28 small nail 32 HP:0001792
29 long penis 32 HP:0000040
30 short distal phalanx of finger 32 HP:0009882
31 short distal phalanx of toe 32 HP:0001857
32 growth abnormality 32 HP:0001507
33 hyperextensibility of the finger joints 32 HP:0001187

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:

id Genetic test Affiliating Genes
1 Zimmermann-Laband Syndrome 1 29 24 KCNH1

Anatomical Context for Zimmermann-Laband Syndrome 1

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

39
Skin

Publications for Zimmermann-Laband Syndrome 1

Variations for Zimmermann-Laband Syndrome 1

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

71
id 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
id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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