Meier-gorlin syndrome 1

Preferred Label : Meier-gorlin syndrome 1;

Symbol : MGORS1;

CISMeF acronym : MGORS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ear, patella, short stature syndrome; EPS; Microtia, absent patellae, micrognathia syndrome; Meier-gorlin syndrome;

Description : The Meier-Gorlin syndrome is a rare autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). - Genetic Heterogeneity of Meier-Gorlin Syndrome Also see Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q22; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q12; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q; and Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the origin recognition complex, subunit 1, gene (ORC1, 601902.0001);

Prefixed ID : #224690;

Details

Origin ID

224690;

UMLS CUI

C4552001;

Automatic exact mappings (from CISMeF team)
- Chronic primary epigastric pain syndrome [ICD-11 More detail]
- EPS [EDAM format]
- Meier-Gorlin syndrome 1 [DO Concept]
- Pneumonia caused by Mycoplasma pneumoniae (disorder) [SNOMED CT concept]
- exophthalmos producing substance [SNOMED Notion]
- hospital [CISMeF resources Type]
Currated CISMeF NLP mapping
- Ear, patella, short stature syndrome (disorder) [SNOMED CT concept]
- Ear-patella-short stature syndrome [ORDO Disease]
- Meier-Gorlin syndrome [MedDRA Preferred Term]
- Meier-Gorlin syndrome [DO Concept]
- Meier-Gorlin syndrome [MeSH concept]
- Meier-Gorlin syndrome [MeSH Supplementary Concept]
DO Cross reference
- Meier-Gorlin syndrome 1 [DO Concept]
False automatic mappings
- EPO wt Allele [NCIt concept]
- Exophthalmos producing substance (substance) [SNOMED CT concept]
- Interleukin-1 (substance) [SNOMED CT concept]
- blood protein electrophoresis [MeSH Descriptor]
- epidemiology [MeSH Descriptor]
- health education [MeSH Descriptor]
Genes related to phenotype
- Origin recognition complex, subunit 1 [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Absent glenoid fossa [HPO term]
- Absent sternal ossification [HPO term]
- Aplasia/Hypoplasia of the patella [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral microtia [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Blepharophimosis [HPO term]
- Breast hypoplasia [HPO term]
- Breech presentation [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypertrophy [HPO term]
- Congenital onset [HPO term]
- Coxa valga [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Death in infancy [HPO term]
- Delayed skeletal maturation [HPO term]
- Elbow dislocation [HPO term]
- Emphysema [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flat glenoid fossa [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Gastroesophageal reflux [HPO term]
- Genu recurvatum [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Hearing impairment [HPO term]
- Hemivertebrae [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperconvex nail [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypoplastic labia minora [HPO term]
- Incomplete partition of the cochlea type II [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint contracture of the hand [HPO term]
- Joint laxity [HPO term]
- Lateral clavicle hook [HPO term]
- Long eyelashes [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Patellar aplasia [HPO term]
- Pectus carinatum [HPO term]
- Respiratory distress [HPO term]
- Shawl scrotum [HPO term]
- Short palm [HPO term]
- Short palpebral fissure [HPO term]
- Short ribs [HPO term]
- Slender long bone [HPO term]
- Small anterior fontanelle [HPO term]
- Small for gestational age [HPO term]
- Small hand [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Thick vermilion border [HPO term]
- Thin ribs [HPO term]
- Thin skin [HPO term]
- genu valgum or genu varum [HPO term]
ORDO concept(s)
- Ear-patella-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ear, patella, short stature syndrome (disorder) [SNOMED CT concept]
- Ear-patella-short stature syndrome [ORDO Disease]
- Meier-Gorlin syndrome [MedDRA Preferred Term]
- Meier-Gorlin syndrome [MeSH Supplementary Concept]
- Meier-Gorlin syndrome [MeSH concept]
- Meier-Gorlin syndrome [DO Concept]

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