Achondrogenesis, type ia

Preferred Label : Achondrogenesis, type ia;

Symbol : ACG1A;

CISMeF acronym : ACG1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Achondrogenesis, houston-harris type;

Description : The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I, as described by Parenti (1936) and by Fraccaro (1952), is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 11 gene (TRIP11, 604505.0001);

Prefixed ID : #200600;

Détails

Origin ID

200600;

UMLS CUI

C0265273;

Automatic exact mappings (from CISMeF team)
- TRIP11 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Achondrogenesis type 1A [ICD-11 More detail]
- Achondrogenesis type 1A [MeSH concept]
- Achondrogenesis type 1A [ORDO Disease]
- Achondrogenesis, type IA (disorder) [SNOMED CT concept]
- achondrogenesis type 1A [MeSH Supplementary Concept]
- achondrogenesis type IA [DO Concept]
- achondrogenesis, type ia [SNOMED Notion]
DO Cross reference
- achondrogenesis type IA [DO Concept]
Genes related to phenotype
- Thyroid hormone receptor interactor 11 [OMIM gene]
HPO term(s)
- Abnormal foot bone ossification [HPO term]
- Abnormal hand bone ossification [HPO term]
- Abnormality of the femoral metaphysis [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Beaded ribs [HPO term]
- Broad clavicles [HPO term]
- Decreased skull ossification [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Flattened nasal bridge [HPO term]
- Hydrops fetalis [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic scapulae [HPO term]
- Marked micromelic dwarfism [HPO term]
- Micromelia [HPO term]
- Polyhydramnios [HPO term]
- Protuberant abdomen [HPO term]
- Short clavicles [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short ribs [HPO term]
- Short trunk [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Unossified vertebral bodies [HPO term]
ORDO concept(s)
- Achondrogenesis [ORDO Disease]
- Achondrogenesis type 1A [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Achondrogenesis type 1A [ORDO Disease]
- Achondrogenesis type 1A [MeSH concept]
- Achondrogenesis type 1A [ICD-11 More detail]
- Achondrogenesis, type IA (disorder) [SNOMED CT concept]
- achondrogenesis type 1A [MeSH Supplementary Concept]
- achondrogenesis type IA [DO Concept]
- achondrogenesis, type ia [SNOMED Notion]

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