Geleophysic dysplasia 1

Preferred Label : Geleophysic dysplasia 1;

Symbol : GPHYSD1;

CISMeF acronym : GPHYSD1;

Type : Phenotype, molecular basis known;

Description : Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by Le Goff et al., 2011). - Genetic Heterogeneity of Geleophysic Dysplasia Geleophysic dysplasia-2 (GPHYSD2; 614185) is an autosomal dominant form of the disorder caused by heterozygous mutation in the FBN1 gene (134797) on chromosome 15q21.1. Acromicric dysplasia (102370) and the autosomal dominant form of Weill-Marchesani syndrome (608328) are allelic to geleophysic dysplasia-2 and share overlapping skeletal and joint features.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADAMTS-like protein 2 gene (ADAMTSL2, 612277.0001);

Prefixed ID : #231050;

Details

Origin ID

231050;

UMLS CUI

C3278147;

Automatic exact mappings (from CISMeF team)
- Geleophysic dwarfism [PASCAL descriptor]
- Geleophysic dwarfism [MeSH concept]
- Geleophysic dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Geleophysic Dysplasia 1 [NCIt concept]
- geleophysic dysplasia 1 [DO Concept]
DO Cross reference
- geleophysic dysplasia 1 [DO Concept]
Genes related to phenotype
- Adamts-like protein 2 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Congestive heart failure [HPO term]
- Coxa valga [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High pitched voice [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Irregular capital femoral epiphysis [HPO term]
- J-shaped sella turcica [HPO term]
- Joint contracture of the hand [HPO term]
- Joint stiffness [HPO term]
- Lack of skin elasticity [HPO term]
- Long philtrum [HPO term]
- Long, smooth philtrum [HPO term]
- Mitral stenosis [HPO term]
- Osteopenia [HPO term]
- Pectus excavatum [HPO term]
- Round face [HPO term]
- Round, full face [HPO term]
- Seizure [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Short long bone [HPO term]
- Short metacarpals with rounded proximal ends [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Smooth philtrum [HPO term]
- Thickened helices [HPO term]
- Thickened skin [HPO term]
- Tracheal stenosis [HPO term]
- Tricuspid stenosis [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide mouth [HPO term]
- Wrist flexion contracture [HPO term]
- shortened long tubular bones [HPO term]
Not associated HPO term(s)
- Abnormality of skull size [HPO term]
ORDO concept(s)
- Geleophysic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Geleophysic Dysplasia 1 [NCIt concept]

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