Meier-Gorlin Syndrome 1 (MGORS1)

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Disease Ontology 12 DOID:0060306 DOID:0080512 OMIM® 57 224690 OMIM Phenotypic Series 57 PS224690 KEGG 36 H01889 MeSH 44 C538012 D006130 D008844 SNOMED-CT 67 703508009 MESH via Orphanet 45 C538012

ICD10 via Orphanet 33 Q87.1 UMLS via Orphanet 71 C1868684 Orphanet 58 ORPHA2554 MedGen 41 C1868684 C4552001 SNOMED-CT via HPO 68 103276001 111324004 123983008 125617002 128602000 14582003 15188001 16331000 18910001 199612005 202281000 204878001 204888000 205101001 22033007 22066006 224958001 228156007 230145002 235595009 237836003 237837007 246802000 247487009 247578003 249101006 249684000 249696007 249697003 249808002 253251006 258211005 267036007 267258002 271611007 271825005 27272007 276610007 277797007 27911000 289469003 29271008 298203008 299032009 299236004 299330008 299331007 32337007 32958008 343087000 34911001 35045004 36440009 397932003 406477003 409622000 417558002 422065006 432788009 43437003 57219006 57436000 6096002 63567004 68359008 698065002 78164000 80212005 82562007 86414002 87979003 8915006 90145001 91138005 91896009 91922000 95515009 95828007 more UMLS 70 C1868684

MedlinePlus Genetics : ⁴³ 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.Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.

MalaCards based summary : Meier-Gorlin Syndrome 1, also known as meier-gorlin syndrome, is related to isolated growth hormone deficiency, type ia and seckel syndrome. An important gene associated with Meier-Gorlin Syndrome 1 is ORC1 (Origin Recognition Complex Subunit 1), and among its related pathways/superpathways are Cell cycle and Cell Cycle, Mitotic. Affiliated tissues include testes, bone and breast, and related phenotypes are failure to thrive and delayed skeletal maturation

Disease Ontology : ¹² A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.

GARD : ²⁰ Meier-Gorlin syndrome (MGS) is a very rare inherited condition characterized by very small ears and ear canals, short stature, and absent or very small kneecaps (patellae). Other signs and symptoms can include hearing loss, feeding problems, respiratory tract abnormalities, small chin, and small head size. People with MGS may also have characteristic facial features including a small mouth, full lips and a narrow nose. Females with MGS may have underdeveloped breasts. Most people with this syndrome have normal intelligence. There are many forms of MGS and it can be caused by mutations in any of eight different genes : ORC1, ORC4, ORC6, CDT1, CDC6, CDC45L, MCM5 and GMNN. Most forms of MGS are inherited in an autosomal recessive pattern. The form caused by the GMNN gene is inherited in an autosomal dominant pattern. MGS is diagnosed based on the clinical signs and symptoms. Genetic testing can aid in the diagnosis. Treatment is based on the symptoms. Most people with this syndrome have normal lifespans. The exact prevalence of MGS has not been determined, but is estimated to be less than 1-9/1,000,000.

OMIM® : ⁵⁷ The Meier-Gorlin syndrome is a rare 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). (224690) (Updated 20-May-2021)

KEGG : ³⁶ Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings include pulmonary emphysema, feeding difficulties, urogenital abnormalities, and mammary hypoplasia. Characteristic facial features, which gradually change with age, are frequently described. Infants typically have a small mouth with full lips and micrognathia, whereas in adults, a high forehead and a more prominent, narrow nose with a broad nasal bridge are distinguishable. The diagnosis of MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. Mutations in genes involved in DNA-replication have been detected in patients with MGS.

UniProtKB/Swiss-Prot : ⁷² 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.

Clinical features from OMIM®:

224690 (Updated 20-May-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.28	CDC45 CDC6 GMNN
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.28	CDC45 CDC6 CDT1 GMNN KLHDC2 ORC1
3	Downregulation of Wnt pathway after Wnt3A stimulation	GR00057-A-2	9.26	CDC45 CDC6 CDT1 KMT5B

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 1

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 1.