Hennekam lymphangiectasia-lymphedema syndrome 1

Preferred Label : Hennekam lymphangiectasia-lymphedema syndrome 1;

Symbol : HKLLS1;

CISMeF acronym : HKLLS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lymphatic dysplasia, generalized; Hennekam lymphangiectasia-lymphedema syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen and calcium-binding EGF domain-containing protein 1 gene (CCBE1, 612753.0001);

Laboratory abnormalities : Hypoalbuminemia;

Prefixed ID : #235510;

Details

Origin ID

235510;

UMLS CUI

C4012050;

Currated CISMeF NLP mapping
- Hennekam lymphangiectasia lymphedema syndrome [Disease (Nov.)]
- Hennekam lymphangiectasia lymphedema syndrome [MeSH concept]
- Hennekam lymphangiectasia-lymphedema syndrome (disorder) [SNOMED CT concept]
- Hennekam syndrome [PASCAL descriptor]
- Hennekam syndrome [DO Concept]
- Hennekam syndrome [ORDO Disease]
- hennekam lymphangiectasia lymphedema syndrome [MeSH Supplementary Concept]
DO Cross reference
- Hennekam syndrome [DO Concept]
Genes related to phenotype
- Collagen and calcium-binding egf domain-containing protein 1 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral single transverse palmar creases [HPO term]
- Broad forehead [HPO term]
- Camptodactyly [HPO term]
- Conductive hearing impairment [HPO term]
- Conical incisor [HPO term]
- Coronal craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Ectopic kidney [HPO term]
- Epicanthus [HPO term]
- Erysipelas [HPO term]
- Flat face [HPO term]
- Flat, broad nasal bridge [HPO term]
- Gingival overgrowth [HPO term]
- Glaucoma [HPO term]
- Hirsutism [HPO term]
- Horseshoe kidney [HPO term]
- Hydronephrosis [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoplastic iliac wing [HPO term]
- Intellectual disability [HPO term]
- Intestinal lymphangiectasia [HPO term]
- Joint contracture of the hand [HPO term]
- Low-set ears [HPO term]
- Lymphedema [HPO term]
- Malar flattening [HPO term]
- Mild postnatal growth retardation [HPO term]
- Narrow mouth [HPO term]
- Narrow palate [HPO term]
- Oligodontia [HPO term]
- Pachygyria [HPO term]
- Pectus excavatum [HPO term]
- Pericardial effusion [HPO term]
- Pericardial lymphangiectasia [HPO term]
- Periorbital edema [HPO term]
- Pleural effusion [HPO term]
- Pleural lymphangiectasia [HPO term]
- Protein-losing enteropathy [HPO term]
- Rectal prolapse [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short foot [HPO term]
- Short palm [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Spina bifida occulta [HPO term]
- Talipes equinovarus [HPO term]
- Thyroid lymphangiectasia [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Hennekam syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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