Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

Preferred Label : Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;

Symbol : EEC3;

CISMeF acronym : EEC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eec syndrome 3;

Description : Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate (summary by Maas et al., 1996). Also see EEC1 (129900), which has been mapped to chromosome 7q11.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor protein p63 gene (TP63, 603273.0001);

Prefixed ID : #604292;

Details

Origin ID

604292;

UMLS CUI

C1858562;

Automatic exact mappings (from CISMeF team)
- TP63 wt Allele [NCIt concept]
- symbol withdrawn TP73L [HGNC gene]
- tumor protein p63 [ORDO Gene]
- tumor protein p63 [HGNC gene]
Broader ORDO disease(s)
- EEC syndrome [ORDO Disease]
CISMeF manual mappings
- ectrodactyly ectodermal dysplasia cleft syndrome 3 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 [MeSH Supplementary Concept]
- Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 [MeSH concept]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [DO Concept]
DO Cross reference
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [DO Concept]
Genes related to phenotype
- Tumor protein p63 [OMIM gene]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Absence of Stensen duct [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bladder diverticulum [HPO term]
- Blepharitis [HPO term]
- Blepharophimosis [HPO term]
- Blue irides [HPO term]
- Carious teeth [HPO term]
- Central diabetes insipidus [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Dacryocystitis [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Depressed nasal tip [HPO term]
- Duplicated collecting system [HPO term]
- Ectodermal dysplasia [HPO term]
- Ectrodactyly [HPO term]
- Fair hair [HPO term]
- Generalized hypopigmentation [HPO term]
- Hearing impairment [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hyperkeratosis [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic nipples [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Megacystis [HPO term]
- Microdontia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Nail dystrophy [HPO term]
- Nail pits [HPO term]
- Photophobia [HPO term]
- Renal agenesis [HPO term]
- Renal dysplasia [HPO term]
- Selective tooth agenesis [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse axillary hair [HPO term]
- Sparse eyelashes [HPO term]
- Sparse pubic hair [HPO term]
- Sparse scalp hair [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Toe syndactyly [HPO term]
- Transverse vaginal septum [HPO term]
- Ureterocele [HPO term]
- Urethral stenosis [HPO term]
- Vesicoureteral reflux [HPO term]
- Xerostomia [HPO term]
ORDO concept(s)
- EEC syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 [MeSH Supplementary Concept]
- Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 [MeSH concept]
- ectrodactyly ectodermal dysplasia cleft syndrome 3 [Disease (Nov.)]

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