MCID: MRG008
MIFTS: 47

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:
49OMIM, 11diseasecard, 22GeneTests, 67UniProtKB/Swiss-Prot, 24GTR, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 49 11 22 67 24
Meier-Gorlin Syndrome 10 45 22 23 12 51 36 24
Ear, Patella, Short Stature Syndrome 45 22 23 65
Microtia, Absent Patellae, Micrognathia Syndrome 45 23
Ear-Patella-Short Stature Syndrome 10 51
 
Microtia Absent Patellae Micrognathia Syndrome 67
Ear Patella Short Stature Syndrome 67
Mgors1 67
Eps 67

Characteristics:

Orphanet epidemiological data:

51
meier-gorlin syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
meier-gorlin syndrome 1:
Inheritance: heterogeneous, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 224690
Disease Ontology10 DOID:0060306
Orphanet51 2554
SNOMED-CT59 703508009
UMLS via Orphanet66 C1868684
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C538012
MedGen34 C1868684
UMLS65 C1868684

Summaries for Meier-Gorlin Syndrome 1

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OMIM:49 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 2 and meier-gorlin syndrome 3, 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 Mitotic G1-G1/S phases. Affiliated tissues include bone, breast and testes.

Disease Ontology:10 An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.

NIH Rare Diseases:45 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:67 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.

Genetics Home Reference:23 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.

Related Diseases for Meier-Gorlin Syndrome 1

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Graphical network of the top 20 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

Symptoms:

 51 (show all 35)
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypoplastic mandibula/partial absence of the mandibula
  • microstomia/little mouth
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • external auditory canal atresia/stenosis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • delayed bone age
  • epiphyseal anomaly
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • hyperextensible joints/articular hyperlaxity
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • craniostenosis/craniosynostosis/sutural synostosis
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • clavicle absent/abnormal
  • rib structure anomalies
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • patella absent/abnormal (excluding luxation)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • female pseudohermaphrodism/virilisation/clitoridomegaly
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • thick lips
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • breast tissue/mammary gland absence/aplasia
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • elbow dislocation

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 small hand HP:0200055
30 short palpebral fissure HP:0012745
31 camptodactyly HP:0012385
32 cutaneous finger syndactyly HP:0010554
33 joint contracture of the hand HP:0009473
34 feeding difficulties in infancy HP:0008872
35 microtia HP:0008551
36 absent sternal ossification HP:0006628
37 absent glenoid fossa HP:0006591
38 aplasia/hypoplasia of the patella HP:0006498
39 short palm HP:0004279
40 clinodactyly of the 5th finger HP:0004209
41 birth length less than 3rd percentile HP:0003561
42 breast hypoplasia HP:0003187
43 slender long bone HP:0003100
44 elbow dislocation HP:0003042
45 genu varum HP:0002970
46 hemivertebrae HP:0002937
47 genu valgum HP:0002857
48 delayed skeletal maturation HP:0002750
49 abnormality of pelvic girdle bone morphology HP:0002644
50 respiratory distress HP:0002098
51 gastroesophageal reflux HP:0002020
52 frontal bossing HP:0002007
53 hyperconvex nail HP:0001795
54 talipes equinovarus HP:0001762
55 breech presentation HP:0001623
56 small for gestational age HP:0001518
57 intrauterine growth retardation HP:0001511
58 failure to thrive HP:0001508
59 joint laxity HP:0001388
60 intellectual disability HP:0001249
61 thin skin HP:0000963
62 flat glenoid fossa HP:0000911
63 lateral clavicle hook HP:0000895
64 thin ribs HP:0000883
65 short ribs HP:0000773
66 pectus carinatum HP:0000768
67 microdontia HP:0000691
68 blepharophimosis HP:0000581
69 long eyelashes HP:0000527
70 strabismus HP:0000486
71 atresia of the external auditory canal HP:0000413
72 incomplete partition of the cochlea type ii HP:0000376
73 low-set ears HP:0000369
74 hearing impairment HP:0000365
75 micrognathia HP:0000347
76 hypoplasia of the maxilla HP:0000327
77 microcephaly HP:0000252
78 small anterior fontanelle HP:0000237
79 high palate HP:0000218
80 thick lower lip vermilion HP:0000179
81 cleft palate HP:0000175
82 narrow mouth HP:0000160
83 hypoplastic labia minora HP:0000064
84 hypoplastic labia majora HP:0000059
85 clitoral hypertrophy HP:0000057
86 micropenis HP:0000054
87 shawl scrotum HP:0000049
88 cryptorchidism HP:0000028

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 Syndrome22
2 Meier-Gorlin Syndrome 122 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

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

33
Bone, Breast, Testes, Lung, Skin

Animal Models for Meier-Gorlin Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Meier-Gorlin Syndrome 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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:

67
id Symbol AA change Variation ID SNP ID
1ORC1p.Phe89SerVAR_065481
2ORC1p.Arg105GlnVAR_065482
3ORC1p.Glu127GlyVAR_065483
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
1nuclear origin of replication recognition complexGO:000566410.4MCM2, ORC6
2nucleusGO:00056349.4CDC6, ORC1, ORC4, ORC6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:000007610.3CDC6, CDT1
2DNA replication initiationGO:000627010.2CDC6, MCM2
3pattern specification processGO:00073899.8ASPH, BMP5
4DNA damage checkpointGO:00000779.3ATR, ATRIP, CEP63
5mitotic cell cycleGO:00002789.2CDT1, CEP152, CEP63, ORC6
6interstrand cross-link repairGO:00362979.2ATR, ATRIP
7DNA replicationGO:00062608.9ATR, ATRIP, CDC6, CDT1

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

idNameGO IDScoreTop Affiliating Genes
1DNA replication origin bindingGO:00036889.8MCM2, ORC4

Sources for Meier-Gorlin Syndrome 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet