Lymphatic malformation 6

Preferred Label : Lymphatic malformation 6;

Symbol : LMPHM6;

CISMeF acronym : LMPH3; LMPHM6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Generalized lymphatic dysplasia of fotiou; Lymphedema, hereditary, III; LMPH3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PIEZO1 ion channel gene (PIEZO1, 611184.0009);

Prefixed ID : #616843;

Details

Origin ID

616843;

UMLS CUI

C4225184;

Currated CISMeF NLP mapping
- PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis [ORDO Disease]
- Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) [SNOMED CT concept]
Genes related to phenotype
- Piezo-type mechanosensitive ion channel component 1 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Ascites [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cellulitis [HPO term]
- Chylothorax [HPO term]
- Cupped ear [HPO term]
- Deep venous thrombosis [HPO term]
- Edema [HPO term]
- Epicanthus [HPO term]
- Facial edema [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized edema [HPO term]
- Genital edema [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hydrocele testis [HPO term]
- Hypothyroidism [HPO term]
- Intestinal lymphangiectasia [HPO term]
- Lymphedema [HPO term]
- Micrognathia [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Pectus excavatum [HPO term]
- Periorbital edema [HPO term]
- Pleural effusion [HPO term]
- Polyhydramnios [HPO term]
- Prune belly [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Varicose veins [HPO term]
- Webbed neck [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) [SNOMED CT concept]

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