MCID: MRG008
MIFTS: 46

Meier-Gorlin Syndrome 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases

Aliases & Classifications for Meier-Gorlin Syndrome 1

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Sources:
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
See all MalaCards sources

Aliases & Descriptions for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 50 23 68 25 12
Meier-Gorlin Syndrome 11 46 23 24 13 52 25 37
Ear, Patella, Short Stature Syndrome 46 23 24 66
Microtia, Absent Patellae, Micrognathia Syndrome 46 24
Ear-Patella-Short Stature Syndrome 11 52
 
Microtia Absent Patellae Micrognathia Syndrome 68
Ear Patella Short Stature Syndrome 68
Mgors1 68
Eps 68

Characteristics:

Orphanet epidemiological data:

52
meier-gorlin syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

62
meier-gorlin syndrome 1:
Inheritance: autosomal recessive inheritance, heterogeneous


Classifications:



External Ids:

OMIM50 224690
Disease Ontology11 DOID:0060306
Orphanet52 ORPHA2554
SNOMED-CT60 703508009
UMLS via Orphanet67 C1868684
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C538012
MedGen35 C1868684

Summaries for Meier-Gorlin Syndrome 1

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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.

Related Diseases for Meier-Gorlin Syndrome 1

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Graphical network of diseases related to Meier-Gorlin Syndrome 1:



Diseases related to meier-gorlin syndrome 1

Symptoms for Meier-Gorlin Syndrome 1

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Symptoms by clinical synopsis from OMIM:

224690

Clinical features from OMIM:

224690

HPO human phenotypes related to Meier-Gorlin Syndrome 1:

(show all 88)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 narrow mouth hallmark (90%) HP:0000160
3 microcephaly hallmark (90%) HP:0000252
4 micrognathia hallmark (90%) HP:0000347
5 atresia of the external auditory canal hallmark (90%) HP:0000413
6 joint hypermobility hallmark (90%) HP:0001382
7 intrauterine growth retardation hallmark (90%) HP:0001511
8 delayed skeletal maturation hallmark (90%) HP:0002750
9 slender long bone hallmark (90%) HP:0003100
10 short stature hallmark (90%) HP:0004322
11 abnormality of epiphysis morphology hallmark (90%) HP:0005930
12 low-set, posteriorly rotated ears typical (50%) HP:0000368
13 abnormality of the ribs typical (50%) HP:0000772
14 abnormality of the clavicle typical (50%) HP:0000889
15 craniosynostosis typical (50%) HP:0001363
16 respiratory insufficiency typical (50%) HP:0002093
17 clinodactyly of the 5th finger typical (50%) HP:0004209
18 patellar aplasia typical (50%) HP:0006443
19 female pseudohermaphroditism typical (50%) HP:0010458
20 camptodactyly of finger typical (50%) HP:0100490
21 cleft palate occasional (7.5%) HP:0000175
22 thick lower lip vermilion occasional (7.5%) HP:0000179
23 hearing impairment occasional (7.5%) HP:0000365
24 elbow dislocation occasional (7.5%) HP:0003042
25 hypoplasia of penis occasional (7.5%) HP:0008736
26 cognitive impairment occasional (7.5%) HP:0100543
27 displacement of the external urethral meatus occasional (7.5%) HP:0100627
28 breast aplasia occasional (7.5%) HP:0100783
29 cryptorchidism HP:0000028
30 shawl scrotum HP:0000049
31 micropenis HP:0000054
32 clitoral hypertrophy HP:0000057
33 hypoplastic labia majora HP:0000059
34 hypoplastic labia minora HP:0000064
35 narrow mouth HP:0000160
36 cleft palate HP:0000175
37 thick lower lip vermilion HP:0000179
38 high palate HP:0000218
39 small anterior fontanelle HP:0000237
40 microcephaly HP:0000252
41 hypoplasia of the maxilla HP:0000327
42 micrognathia HP:0000347
43 hearing impairment HP:0000365
44 low-set ears HP:0000369
45 incomplete partition of the cochlea type ii HP:0000376
46 atresia of the external auditory canal HP:0000413
47 strabismus HP:0000486
48 long eyelashes HP:0000527
49 blepharophimosis HP:0000581
50 microdontia HP:0000691
51 pectus carinatum HP:0000768
52 short ribs HP:0000773
53 thin ribs HP:0000883
54 lateral clavicle hook HP:0000895
55 flat glenoid fossa HP:0000911
56 thin skin HP:0000963
57 intellectual disability HP:0001249
58 joint laxity HP:0001388
59 failure to thrive HP:0001508
60 intrauterine growth retardation HP:0001511
61 small for gestational age HP:0001518
62 breech presentation HP:0001623
63 talipes equinovarus HP:0001762
64 hyperconvex nail HP:0001795
65 frontal bossing HP:0002007
66 gastroesophageal reflux HP:0002020
67 respiratory distress HP:0002098
68 abnormality of pelvic girdle bone morphology HP:0002644
69 delayed skeletal maturation HP:0002750
70 genu valgum HP:0002857
71 hemivertebrae HP:0002937
72 genu varum HP:0002970
73 elbow dislocation HP:0003042
74 slender long bone HP:0003100
75 breast hypoplasia HP:0003187
76 birth length less than 3rd percentile HP:0003561
77 clinodactyly of the 5th finger HP:0004209
78 short palm HP:0004279
79 aplasia/hypoplasia of the patella HP:0006498
80 absent glenoid fossa HP:0006591
81 absent sternal ossification HP:0006628
82 microtia HP:0008551
83 feeding difficulties in infancy HP:0008872
84 joint contracture of the hand HP:0009473
85 cutaneous finger syndactyly HP:0010554
86 camptodactyly HP:0012385
87 short palpebral fissure HP:0012745
88 small hand HP:0200055

UMLS symptoms related to Meier-Gorlin Syndrome 1:


joint laxity

Drugs & Therapeutics for Meier-Gorlin Syndrome 1

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Interventional clinical trials:

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


Cochrane evidence based reviews: meier-gorlin syndrome

Genetic Tests for Meier-Gorlin Syndrome 1

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Genetic tests related to Meier-Gorlin Syndrome 1:

id Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome25 23
2 Meier-Gorlin Syndrome 125 23 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

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MalaCards organs/tissues related to Meier-Gorlin Syndrome 1:

34
Bone, Breast, Skin

Animal Models for Meier-Gorlin Syndrome 1 or affiliated genes

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Publications for Meier-Gorlin Syndrome 1

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Variations for Meier-Gorlin Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 1:

68
id Symbol AA change Variation ID SNP ID
1ORC1p.Phe89SerVAR_065481rs387906827
2ORC1p.Arg105GlnVAR_065482rs143141689
3ORC1p.Glu127GlyVAR_065483rs387906826
4ORC1p.Arg666TrpVAR_065484rs201253919
5ORC1p.Arg720GlnVAR_065485rs387906828

Clinvar genetic disease variations for Meier-Gorlin Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GMNNNM_015895.4(GMNN): c.16A> T (p.Lys6Ter)single nucleotide variantPathogenicrs864309486GRCh37Chr 6, 24777490: 24777490
2GMNNNM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs)deletionPathogenicrs864309487GRCh37Chr 6, 24777509: 24777512
3GMNNNM_015895.4(GMNN): c.50A> G (p.Lys17Arg)single nucleotide variantLikely pathogenic, Pathogenicrs864309488GRCh37Chr 6, 24777524: 24777524
4ORC1NM_004153.3(ORC1): c.380A> G (p.Glu127Gly)single nucleotide variantPathogenicrs387906826GRCh37Chr 1, 52863379: 52863379
5ORC1NM_004153.3(ORC1): c.266T> C (p.Phe89Ser)single nucleotide variantPathogenicrs387906827GRCh37Chr 1, 52863493: 52863493
6ORC1NM_004153.3(ORC1): c.314G> A (p.Arg105Gln)single nucleotide variantPathogenicrs143141689GRCh37Chr 1, 52863445: 52863445
7ORC1NM_004153.3(ORC1): c.2159G> A (p.Arg720Gln)single nucleotide variantPathogenicrs387906828GRCh37Chr 1, 52841246: 52841246
8ORC1ORC1, 2-BP DEL/1-BP INS, NT2000indelPathogenic
9ORC1ORC1, IVS9, G-A, -2single nucleotide variantPathogenic
10ORC1NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp)single nucleotide variantPathogenicrs201253919GRCh37Chr 1, 52849109: 52849109

Expression for genes affiliated with Meier-Gorlin Syndrome 1

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

Pathways for genes affiliated with Meier-Gorlin Syndrome 1

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GO Terms for genes affiliated with Meier-Gorlin Syndrome 1

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Cellular components related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1origin recognition complexGO:000080810.5ORC1, ORC4, ORC6
2nuclear origin of replication recognition complexGO:000566410.1MCM2, ORC1, ORC4, ORC6
3centrioleGO:00058149.6CEP152, CEP63, PCNT
4centrosomeGO:00058139.2CDC45, CEP152, CEP63, PCNT
5nuclear chromosome, telomeric regionGO:00007849.2ATR, MCM2, ORC1, ORC4
6nucleoplasmGO:00056546.1ATR, ATRIP, CDC45, CDC6, CDT1, CEP152

Biological processes related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1de novo centriole assemblyGO:00985359.9CEP152, CEP63
2centriole replicationGO:00070999.9CEP152, CEP63
3negative regulation of DNA replicationGO:00081569.7ATR, CDC6, GMNN
4DNA replication checkpointGO:00000769.6CDC45, CDC6, CDT1
5DNA replication initiationGO:00062709.5CDC45, CDC6, MCM2, ORC1, ORC4
6regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00000839.5CDC45, CDC6, CDT1, ORC1
7DNA damage checkpointGO:00000779.2ATR, ATRIP, CEP63
8cell cycleGO:00070499.2ATR, GMNN, MCM2
9G2/M transition of mitotic cell cycleGO:00000868.9CEP152, CEP63, PCNT
10G1/S transition of mitotic cell cycleGO:00000828.6CDC45, CDC6, CDT1, MCM2, ORC1, ORC4
11DNA replicationGO:00062607.3ATR, ATRIP, CDC45, CDC6, CDT1, MCM2

Molecular functions related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA replication origin bindingGO:000368810.2CDC45, MCM2, ORC4
2protein bindingGO:00055154.6ATR, ATRIP, BMP5, CDC45, CDC6, CDT1

Sources for Meier-Gorlin Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet