Zimmermann-laband syndrome 1

Preferred Label : Zimmermann-laband syndrome 1;

Symbol : ZLS1;

CISMeF acronym : ZLS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Laband syndrome; Fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, voltage-gated, subfamily H, member-1 gene (KCNH1, 603305.0005);

Prefixed ID : #135500;

Détails

Origin ID

135500;

UMLS CUI

C4551773;

Currated CISMeF NLP mapping
- Laband syndrome [MedDRA Preferred Term]
- Zimmerman Laband syndrome [Disease (Nov.)]
- Zimmerman Laband syndrome [MeSH concept]
- Zimmermann-Laband syndrome [ICD-11 More detail]
- Zimmermann-Laband syndrome [ORDO Disease]
- Zimmermann-Laband syndrome (disorder) [SNOMED CT concept]
- zimmerman laband syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, subfamily h, member 1 [OMIM gene]
HPO term(s)
- Aortic arch aneurysm [HPO term]
- Aortic root aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Coarse facial features [HPO term]
- Delayed eruption of teeth [HPO term]
- Full lips [HPO term]
- Generalized hypotonia [HPO term]
- Gingival fibromatosis [HPO term]
- Gingival overgrowth [HPO term]
- Growth abnormality [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hirsutism [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Long penis [HPO term]
- Mandibular prognathia [HPO term]
- Myopia [HPO term]
- Nephrolithiasis [HPO term]
- Patent ductus arteriosus [HPO term]
- Posteriorly rotated ears [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Short distal phalanx of toe [HPO term]
- Small nail [HPO term]
- Spina bifida occulta [HPO term]
- Splenomegaly [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Zimmermann-Laband syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Zimmerman Laband syndrome [MeSH concept]
- Zimmerman Laband syndrome [Disease (Nov.)]
- Zimmermann-Laband syndrome [ORDO Disease]
- Zimmermann-Laband syndrome (disorder) [SNOMED CT concept]
- zimmerman laband syndrome [MeSH Supplementary Concept]

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