MCID: MRG008
MIFTS: 44

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 51 24 69 26 12
Meier-Gorlin Syndrome 11 47 24 25 53 26 38 13
Ear, Patella, Short Stature Syndrome 47 24 25 67
Microtia, Absent Patellae, Micrognathia Syndrome 47 25
Ear-Patella-Short Stature Syndrome 11 53
 
Microtia Absent Patellae Micrognathia Syndrome 69
Ear Patella Short Stature Syndrome 69
Mgors1 69
Eps 69

Characteristics:

Orphanet epidemiological data:

53
meier-gorlin syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

63
meier-gorlin syndrome 1:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM51 224690
Disease Ontology11 DOID:0060306
Orphanet53 ORPHA2554
SNOMED-CT61 703508009
UMLS via Orphanet68 C1868684
MESH via Orphanet39 C538012
ICD10 via Orphanet30 Q87.1
MedGen36 C1868684

Summaries for Meier-Gorlin Syndrome 1

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OMIM:51 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 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:25 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:47 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:69 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

Human phenotypes related to Meier-Gorlin Syndrome 1:

 63 (show all 75)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism63 hallmark (90%) HP:0000028
2 narrow mouth63 hallmark (90%) HP:0000160
3 microcephaly63 hallmark (90%) HP:0000252
4 micrognathia63 hallmark (90%) HP:0000347
5 atresia of the external auditory canal63 hallmark (90%) HP:0000413
6 joint hypermobility63 hallmark (90%) HP:0001382
7 intrauterine growth retardation63 hallmark (90%) HP:0001511
8 delayed skeletal maturation63 hallmark (90%) HP:0002750
9 slender long bone63 hallmark (90%) HP:0003100
10 short stature63 hallmark (90%) HP:0004322
11 abnormality of epiphysis morphology63 hallmark (90%) HP:0005930
12 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
13 abnormality of the ribs63 typical (50%) HP:0000772
14 abnormality of the clavicle63 typical (50%) HP:0000889
15 craniosynostosis63 typical (50%) HP:0001363
16 respiratory insufficiency63 typical (50%) HP:0002093
17 clinodactyly of the 5th finger63 typical (50%) HP:0004209
18 patellar aplasia63 typical (50%) HP:0006443
19 female pseudohermaphroditism63 typical (50%) HP:0010458
20 camptodactyly of finger63 typical (50%) HP:0100490
21 cleft palate63 occasional (7.5%) HP:0000175
22 thick lower lip vermilion63 occasional (7.5%) HP:0000179
23 hearing impairment63 occasional (7.5%) HP:0000365
24 elbow dislocation63 occasional (7.5%) HP:0003042
25 hypoplasia of penis63 occasional (7.5%) HP:0008736
26 cognitive impairment63 occasional (7.5%) HP:0100543
27 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
28 breast aplasia63 occasional (7.5%) HP:0100783
29 shawl scrotum63 HP:0000049
30 micropenis63 HP:0000054
31 clitoral hypertrophy63 HP:0000057
32 hypoplastic labia majora63 HP:0000059
33 hypoplastic labia minora63 HP:0000064
34 high palate63 HP:0000218
35 small anterior fontanelle63 HP:0000237
36 hypoplasia of the maxilla63 HP:0000327
37 low-set ears63 HP:0000369
38 incomplete partition of the cochlea type ii63 HP:0000376
39 strabismus63 HP:0000486
40 long eyelashes63 HP:0000527
41 blepharophimosis63 HP:0000581
42 microdontia63 HP:0000691
43 pectus carinatum63 HP:0000768
44 short ribs63 HP:0000773
45 thin ribs63 HP:0000883
46 lateral clavicle hook63 HP:0000895
47 flat glenoid fossa63 HP:0000911
48 thin skin63 HP:0000963
49 intellectual disability63 HP:0001249
50 joint laxity63 HP:0001388
51 failure to thrive63 HP:0001508
52 small for gestational age63 HP:0001518
53 breech presentation63 HP:0001623
54 talipes equinovarus63 HP:0001762
55 hyperconvex nail63 HP:0001795
56 frontal bossing63 HP:0002007
57 gastroesophageal reflux63 HP:0002020
58 respiratory distress63 HP:0002098
59 abnormality of pelvic girdle bone morphology63 HP:0002644
60 genu valgum63 HP:0002857
61 hemivertebrae63 HP:0002937
62 genu varum63 HP:0002970
63 breast hypoplasia63 HP:0003187
64 birth length less than 3rd percentile63 HP:0003561
65 short palm63 HP:0004279
66 aplasia/hypoplasia of the patella63 HP:0006498
67 absent glenoid fossa63 HP:0006591
68 absent sternal ossification63 HP:0006628
69 microtia63 HP:0008551
70 feeding difficulties in infancy63 HP:0008872
71 joint contracture of the hand63 HP:0009473
72 cutaneous finger syndactyly63 HP:0010554
73 camptodactyly63 HP:0012385
74 short palpebral fissure63 HP:0012745
75 small hand63 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 Syndrome26 24
2 Meier-Gorlin Syndrome 126 24 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

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

35
Bone, 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:

69
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)SNVPathogenicrs864309486GRCh38Chr 6, 24777262: 24777262
2GMNNNM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs)deletionPathogenicrs864309487GRCh38Chr 6, 24777281: 24777284
3GMNNNM_015895.4(GMNN): c.50A> G (p.Lys17Arg)SNVLikely pathogenic, Pathogenicrs864309488GRCh37Chr 6, 24777524: 24777524
4ORC1NM_004153.3(ORC1): c.380A> G (p.Glu127Gly)SNVPathogenicrs387906826GRCh37Chr 1, 52863379: 52863379
5ORC1NM_004153.3(ORC1): c.266T> C (p.Phe89Ser)SNVPathogenicrs387906827GRCh37Chr 1, 52863493: 52863493
6ORC1NM_004153.3(ORC1): c.314G> A (p.Arg105Gln)SNVLikely pathogenic, Pathogenicrs143141689GRCh37Chr 1, 52863445: 52863445
7ORC1NM_004153.3(ORC1): c.2159G> A (p.Arg720Gln)SNVPathogenicrs387906828GRCh37Chr 1, 52841246: 52841246
8ORC1ORC1, 2-BP DEL/1-BP INS, NT2000indelPathogenicChr na, -1: -1
9ORC1ORC1, IVS9, G-A, -2SNVPathogenicChr na, -1: -1
10ORC1NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp)SNVPathogenicrs201253919GRCh37Chr 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:000566410.5ORC1, ORC4, ORC6
3nuclear chromosome, telomeric regionGO:00007849.9ATR, ORC1, ORC4
4centrioleGO:00058149.6CEP152, CEP63, PCNT
5centrosomeGO:00058139.1CDC45, CEP152, CEP63, PCNT
6nucleoplasmGO:00056547.0ATR, ATRIP, CDC45, CDC6, CDT1, CEP152

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1centriole replicationGO:000709910.0CEP152, CEP63
2negative regulation of DNA replicationGO:000815610.0ATR, CDC6, GMNN
3DNA replication initiationGO:00062709.9CDC45, CDC6, ORC1, ORC4
4DNA replication checkpointGO:00000769.8CDC45, CDC6, CDT1
5regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00000839.3CDC45, CDC6, CDT1, ORC1
6G2/M transition of mitotic cell cycleGO:00000869.3CEP152, CEP63, PCNT
7DNA damage checkpointGO:00000779.2ATR, ATRIP, CEP63
8G1/S transition of mitotic cell cycleGO:00000828.6CDC45, CDC6, CDT1, ORC1, ORC4, ORC6
9DNA replicationGO:00062608.2ATR, ATRIP, CDC45, CDC6, CDT1, ORC1

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

idNameGO IDScoreTop Affiliating Genes
1DNA replication origin bindingGO:000368810.5CDC45, ORC4
2protein bindingGO:00055154.3ASPH, ATR, ATRIP, BMP5, CDC45, CDC6

Sources for Meier-Gorlin Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet