Acrodysostosis 1 with or without hormone resistance

Preferred Label : Acrodysostosis 1 with or without hormone resistance;

Symbol : ACRDYS1;

CISMeF acronym : ACRDYS1; ADOHR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ADOHR;

Description : Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cAMP-dependent regulatory subunit 1 of protein kinase A gene (PRKAR1A, 188830.0015);

Laboratory abnormalities : Increased serum parathyroid hormone; Low or normal serum calcium; Normal or increased serum phosphate; Increased urinary cAMP excretion; Increased serum thyrotropin; Increased serum calcitonin;

Prefixed ID : #101800;

Détails

Origin ID

101800;

UMLS CUI

C3276228;

Automatic exact mappings (from CISMeF team)
- Acrodysostosis 1 with or without hormone resistance [MeSH concept]
- Acrodysostosis with multiple hormone resistance [ORDO Disease]
- PRKAR1A wt Allele [NCIt concept]
- acrodysostosis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Acrodysostosis 1 [NCIt concept]
DO Cross reference
- acrodysostosis [DO Concept]
Genes related to phenotype
- Protein kinase, camp-dependent, regulatory, type I, alpha [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue irides [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Brachymelic dwarfism [HPO term]
- Broad nasal tip [HPO term]
- Broad palm [HPO term]
- Broad upturned nasal tip [HPO term]
- Calvarial hyperostosis [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Congenital hypothyroidism [HPO term]
- Cryptorchidism [HPO term]
- Decreased growth hormone responses to growth hormone-releasing hormone challenge [HPO term]
- Delayed eruption of teeth [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Dislocated radial head [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Elevated calcitonin [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Epicanthus [HPO term]
- Epiphyseal stippling [HPO term]
- Hearing impairment [HPO term]
- Hydrocephalus [HPO term]
- Hyperphosphatemia [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypogonadism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Irregular menstruation [HPO term]
- Long hallux [HPO term]
- Low nasal bridge [HPO term]
- Mandibular prognathia [HPO term]
- Melanocytic nevus [HPO term]
- Midface retrusion [HPO term]
- Mild global developmental delay [HPO term]
- Mild postnatal growth retardation [HPO term]
- Narrow vertebral interpedicular distance [HPO term]
- Neonatal epiphyseal stippling [HPO term]
- Optic atrophy [HPO term]
- Scoliosis [HPO term]
- Short broad hands [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Spinal canal stenosis [HPO term]
- Strabismus [HPO term]
- Unilateral renal agenesis [HPO term]
ORDO concept(s)
- Acrodysostosis [ORDO Disease]
- Acrodysostosis with multiple hormone resistance [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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