Meier-Gorlin Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Meier-Gorlin Syndrome 1:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases, Ear diseases
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
OMIM:50 The Meier-Gorlin syndrome is a rare autosomal recessive disorder characterized by severe intrauterine and postnatal... (224690) more...
MalaCards based summary: Meier-Gorlin Syndrome 1, also known as meier-gorlin syndrome, is related to meier-gorlin syndrome 3 and meier-gorlin syndrome 2, and has symptoms including cryptorchidism, narrow mouth and microcephaly. An important gene associated with Meier-Gorlin Syndrome 1 is ORC1 (Origin Recognition Complex Subunit 1), and among its related pathways are Cell cycle_Role of APC in cell cycle regulation and RB in Cancer. Affiliated tissues include bone, breast and skin.
Disease Ontology:11 An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
Genetics Home Reference:24 Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.
NIH Rare Diseases:46 Meier-gorlin syndrome is a condition that affects many parts of the body. this disorder is characterized by small ears, absent patellae (kneecaps), and short stature. there are several types of meier-gorlin syndrome, each classified by the specific genes affected. this condition has an autosomal recessive pattern of inheritance. last updated: 5/14/2012
UniProtKB/Swiss-Prot:68 Meier-Gorlin syndrome 1: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. 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.
HPO human phenotypes related to Meier-Gorlin Syndrome 1:(show all 88)
UMLS symptoms related to Meier-Gorlin Syndrome 1:joint laxity
MalaCards organs/tissues related to Meier-Gorlin Syndrome 1:34
Bone, Breast, Skin
UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 1:68
Clinvar genetic disease variations for Meier-Gorlin Syndrome 1:5
Search GEO for disease gene expression data for Meier-Gorlin Syndrome 1.
Pathways related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:
Cellular components related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet