Chondrodysplasia punctata 2, X-linked dominant

Preferred Label : Chondrodysplasia punctata 2, X-linked dominant;

Symbol : CDPX2;

CISMeF acronym : CPXD; CDPX2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Happle syndrome; Cdpxd; Conradi-hunermann syndrome; CPXD; Conradi-hunermann-happle syndrome;

Description : Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CDP, also known as Conradi-Hunermann syndrome, is the most well-characterized form. See 118650 for a possible autosomal dominant form of CDP. There are 2 brachytelephalangic forms of CDP: an X-linked recessive form (CDPX1; 302950), caused by mutation in the ARSE gene (300180), and a possible autosomal form (BCDP; 602497). There is also an autosomal dominant tibia-metacarpal type (118651). In addition, CDP can be caused by maternal vitamin K deficiency or warfarin teratogenicity (see 118650).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the emopamil-binding protein gene (EBP, 300205.0001);

Laboratory abnormalities : Elevated 8(9)-cholestenol; Elevated 8-dehydrocholesterol;

Prefixed ID : #302960;

Details

Origin ID

302960;

UMLS CUI

C0282102;

Automatic exact mappings (from CISMeF team)
- EBP cholestenol delta-isomerase [ORDO Gene]
- EBP wt Allele [NCIt concept]
- X-linked chondrodysplasia punctata 2 [DO Concept]
- chondrodysplasia punctata [MeSH Descriptor]
- symbol withdrawn CDPX2 [HGNC gene]
Currated CISMeF NLP mapping
- Chondrodysplasia punctata, Conradi-Hünermann type (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata, X-linked dominant [ICD-11 More detail]
- Chondrodysplasia punctata, X-linked dominant type (disorder) [SNOMED CT concept]
- Conradi-Hunermann syndrome [Disease (Nov.)]
- Hunermann-Conradi syndrome [MeSH concept]
- X-linked chondrodysplasia punctata 1 [DO Concept]
- X-linked dominant chondrodysplasia punctata [ORDO Disease]
- chondrodysplasia punctata, conradi-hunermann type [SNOMED Notion]
DO Cross reference
- X-linked chondrodysplasia punctata 2 [DO Concept]
Genes related to phenotype
- Emopamil-binding protein [OMIM gene]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Asymmetric limb shortening [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Calcific stippling [HPO term]
- Cataract [HPO term]
- Concave nasal ridge [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Congenital onset [HPO term]
- Dandy-Walker malformation [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysplastic ears [HPO term]
- Edema [HPO term]
- Elevated 8(9)-cholestenol [HPO term]
- Elevated 8-dehydrocholesterol [HPO term]
- Epiphyseal stippling [HPO term]
- Erythroderma [HPO term]
- Failure to thrive [HPO term]
- Flat face [HPO term]
- Frontal bossing [HPO term]
- Glaucoma [HPO term]
- Hearing impairment [HPO term]
- Hemiatrophy [HPO term]
- Hemivertebrae [HPO term]
- Hydronephrosis [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability, moderate [HPO term]
- Kyphoscoliosis [HPO term]
- Malar flattening [HPO term]
- Microphthalmia [HPO term]
- Mild-to-moderate growth deficiency [HPO term]
- Nystagmus [HPO term]
- Patchy alopecia [HPO term]
- Patellar dislocation [HPO term]
- Polyhydramnios [HPO term]
- Postaxial polydactyly [HPO term]
- Postnatal growth retardation [HPO term]
- Punctate vertebral calcifications [HPO term]
- Rhizomelia [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Stippled calcification in carpal bones [HPO term]
- Tarsal stippling [HPO term]
- Tracheal calcification [HPO term]
- Tracheal stenosis [HPO term]
- Ventriculomegaly [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked dominant chondrodysplasia punctata [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia punctata, Conradi-Hünermann type (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata, X-linked dominant [ICD-11 More detail]
- Chondrodysplasia punctata, X-linked dominant type (disorder) [SNOMED CT concept]
- Conradi-Huenermann syndrome [MedDRA Preferred Term]
- Conradi-Huenermann syndrome [MedDRA LLT]
- Conradi-Hunermann syndrome [Disease (Nov.)]
- Hunermann-Conradi syndrome [MeSH concept]
- X-linked chondrodysplasia punctata 1 [DO Concept]
- X-linked dominant chondrodysplasia punctata [ORDO Disease]
- chondrodysplasia punctata, conradi-hunermann type [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients