Acrodysostosis 2 with or without hormone resistance

Preferred Label : Acrodysostosis 2 with or without hormone resistance;

Symbol : ACRDYS2;

CISMeF acronym : ACRDYS2;

Type : Phenotype, molecular basis known;

Description : Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cAMP-specific phosphodiesterase 4D gene (PDE4D, 600129.0001);

Prefixed ID : #614613;

Details

Origin ID

614613;

UMLS CUI

C3553250;

Automatic exact mappings (from CISMeF team)
- Acrodysostosis 2, with or without hormone resistance [MeSH concept]
- Acrodysostosis with multiple hormone resistance [ORDO Disease]
- PDE4D wt Allele [NCIt concept]
- acrodysostosis [MeSH Supplementary Concept]
DO Cross reference
- acrodysostosis [DO Concept]
Genes related to phenotype
- Phosphodiesterase 4d [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Anteverted nares [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue irides [HPO term]
- Brachydactyly [HPO term]
- Cone-shaped epiphysis [HPO term]
- Congenital hypothyroidism [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Diabetes mellitus [HPO term]
- Fair hair [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypospadias [HPO term]
- Increased intracranial pressure [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Midface retrusion [HPO term]
- Mild short stature [HPO term]
- Obesity [HPO term]
- Red hair [HPO term]
- Round face [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short nose [HPO term]
- Short phalanx of finger [HPO term]
- Spinal canal stenosis [HPO term]
ORDO concept(s)
- Acrodysostosis [ORDO Disease]
- Acrodysostosis with multiple hormone resistance [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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