Zimmermann-Laband Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Zimmermann-Laband Syndrome 2

MalaCards integrated aliases for Zimmermann-Laband Syndrome 2:

Name: Zimmermann-Laband Syndrome 2 ⁵⁷ ⁷⁵ ²⁹ ⁶

Zls2 ⁵⁷ ⁷⁵

Zimmermann-Laband Syndrome, Type 2 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

zimmermann-laband syndrome 2:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Oral diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616455

MedGen ⁴² C4225321 CN231441

MeSH ⁴⁴ D000015

SNOMED-CT via HPO ⁶⁹ 263681008 25273001 441787004 more

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Summaries for Zimmermann-Laband Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁵ Zimmermann-Laband syndrome 2: A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears.

MalaCards based summary : Zimmermann-Laband Syndrome 2, is also known as zls2. An important gene associated with Zimmermann-Laband Syndrome 2 is ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2). Affiliated tissues include liver, and related phenotypes are short neck and intellectual disability

Description from OMIM: 616455

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Related Diseases for Zimmermann-Laband Syndrome 2

Diseases in the Zimmermann-Laband Syndrome family:

Zimmermann-Laband Syndrome 1

Zimmermann-Laband Syndrome 2

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Symptoms & Phenotypes for Zimmermann-Laband Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Neck:
short neck

Growth Height:
short stature

Head And Neck Nose:
bifid nasal tip
broad nasal bridge
prominent nasal septum
hypoplastic nasal alae
bulbous fleshy nose
more

Neurologic Central Nervous System:
mental retardation (in some patients)
hypotonia, generalized (in some patients)

Head And Neck Head:
widow's peak (in some patients)

Skeletal Limbs:
generalized joint hypermobility (in some patients)

Skeletal Feet:
aplasia of distal phalanges, second through fifth toes
variable hypoplasia of middle phalanges, second through fifth toes
valgus deformity of the feet (rare)

Skin Nails Hair Nails:
hyponychia/anonychia, congenital

Head And Neck Mouth:
macroglossia
gingival hyperplasia
full lips

Head And Neck Eyes:
synophrys
thick eyebrows
laterally flared eyebrows
thick, long eyelashes

Head And Neck Face:
prominent philtrum

Head And Neck Ears:
sensorineural deafness
soft, thick helices and lobules

Skeletal Spine:
kyphosis (in some patients)

Skeletal Hands:
variable aplasia or hypoplasia of distal phalanges
variable aplasia or hypoplasia of middle phalanges

Skin Nails Hair Skin:
prominent fingerpads (rare)

Skin Nails Hair Hair:
hypertrichosis (hirsutism)

Clinical features from OMIM:

616455

Human phenotypes related to Zimmermann-Laband Syndrome 2:

³² (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	short neck ³²		HP:0000470
2	intellectual disability ³²	occasional (7.5%)	HP:0001249
3	kyphosis ³²	occasional (7.5%)	HP:0002808
4	macroglossia ³²		HP:0000158
5	gingival overgrowth ³²		HP:0000212
6	wide nasal bridge ³²		HP:0000431
7	thick vermilion border ³²		HP:0012471
8	sensorineural hearing impairment ³²		HP:0000407
9	thick eyebrow ³²		HP:0000574
10	short stature ³²		HP:0004322
11	underdeveloped nasal alae ³²		HP:0000430
12	deep philtrum ³²		HP:0002002
13	long eyelashes ³²		HP:0000527
14	synophrys ³²		HP:0000664
15	generalized hypotonia ³²	occasional (7.5%)	HP:0001290
16	widow's peak ³²	occasional (7.5%)	HP:0000349
17	bifid nasal tip ³²		HP:0000456
18	prominent nasal septum ³²		HP:0005322

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Drugs & Therapeutics for Zimmermann-Laband Syndrome 2

Search Clinical Trials , NIH Clinical Center for Zimmermann-Laband Syndrome 2

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Genetic Tests for Zimmermann-Laband Syndrome 2

Genetic tests related to Zimmermann-Laband Syndrome 2:

#	Genetic test	Affiliating Genes
1	Zimmermann-Laband Syndrome 2 ²⁹	ATP6V1B2

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Anatomical Context for Zimmermann-Laband Syndrome 2

MalaCards organs/tissues related to Zimmermann-Laband Syndrome 2:

⁴¹

Liver

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Publications for Zimmermann-Laband Syndrome 2

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Genes for Zimmermann-Laband Syndrome 2

Genes related to Zimmermann-Laband Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	1328.2	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25915598 23994350 18541964

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Variations for Zimmermann-Laband Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 2:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ATP6V1B2	p.Arg485Pro	VAR_073962	rs730882177

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ATP6V1B2	NM_001693.3(ATP6V1B2): c.1454G> C (p.Arg485Pro)	single nucleotide variant	Pathogenic	rs730882177	GRCh38	Chromosome 8, 20220320: 20220320
2	ATP6V1B2	NM_001693.3(ATP6V1B2): c.1454G> C (p.Arg485Pro)	single nucleotide variant	Pathogenic	rs730882177	GRCh37	Chromosome 8, 20077831: 20077831
3	ATP6V1B2	NM_001693.3(ATP6V1B2): c.1120G> C (p.Glu374Gln)	single nucleotide variant	Likely pathogenic	rs1135401772	GRCh37	Chromosome 8, 20073965: 20073965
4	ATP6V1B2	NM_001693.3(ATP6V1B2): c.1120G> C (p.Glu374Gln)	single nucleotide variant	Likely pathogenic	rs1135401772	GRCh38	Chromosome 8, 20216454: 20216454

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Expression for Zimmermann-Laband Syndrome 2

Search GEO for disease gene expression data for Zimmermann-Laband Syndrome 2.

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Pathways for Zimmermann-Laband Syndrome 2

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GO Terms for Zimmermann-Laband Syndrome 2

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

ZLS2 MCID: ZMM003 MIFTS: 20	Zimmermann-Laband Syndrome 2 (ZLS2) Categories: Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Zimmermann-Laband Syndrome 2 (ZLS2)

Aliases & Classifications for Zimmermann-Laband Syndrome 2

MalaCards integrated aliases for Zimmermann-Laband Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Zimmermann-Laband Syndrome 2

Related Diseases for Zimmermann-Laband Syndrome 2

Diseases in the Zimmermann-Laband Syndrome family:

Symptoms & Phenotypes for Zimmermann-Laband Syndrome 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Zimmermann-Laband Syndrome 2:

Drugs & Therapeutics for Zimmermann-Laband Syndrome 2

Genetic Tests for Zimmermann-Laband Syndrome 2

Genetic tests related to Zimmermann-Laband Syndrome 2:

Anatomical Context for Zimmermann-Laband Syndrome 2

MalaCards organs/tissues related to Zimmermann-Laband Syndrome 2:

Publications for Zimmermann-Laband Syndrome 2

Genes for Zimmermann-Laband Syndrome 2

Genes related to Zimmermann-Laband Syndrome 2 (1 elite genes):

Variations for Zimmermann-Laband Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Zimmermann-Laband Syndrome 2:

ClinVar genetic disease variations for Zimmermann-Laband Syndrome 2:

Expression for Zimmermann-Laband Syndrome 2

Pathways for Zimmermann-Laband Syndrome 2

GO Terms for Zimmermann-Laband Syndrome 2

Sources for Zimmermann-Laband Syndrome 2