MCID: MRG008
MIFTS: 39

Meier-Gorlin Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases categories

Aliases & Classifications for Meier-Gorlin Syndrome 1

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
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Meier-Gorlin Syndrome 1, Aliases & Descriptions:

Name: Meier-Gorlin Syndrome 1 45 10 20
Meier-Gorlin Syndrome 9 41 20 21 47 22
Ear, Patella, Short Stature Syndrome 41 21 60
 
Ear-Patella-Short Stature Syndrome 9 41 47
Microtia, Absent Patellae, Micrognathia Syndrome 41 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
meier-gorlin syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 224690
Disease Ontology9 DOID:0060306
MeSH33 C538012
Orphanet47 2554
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C1868684
MESH via Orphanet34 C538012

Summaries for Meier-Gorlin Syndrome 1

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OMIM:45 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 RB in Cancer and Cell cycle Role of APC in cell cycle regulation. Affiliated tissues include bone, breast and testes.

Disease Ontology:9 An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.

Genetics Home Reference:21 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:41 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

Related Diseases for Meier-Gorlin Syndrome 1

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Diseases in the Meier-Gorlin Syndrome 1 family:

Meier-Gorlin Syndrome 2 Meier-Gorlin Syndrome 3
Meier-Gorlin Syndrome 4 Meier-Gorlin Syndrome 5

Diseases related to Meier-Gorlin Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1meier-gorlin syndrome 310.8
2meier-gorlin syndrome 210.7
3meier-gorlin syndrome 410.7
4meier-gorlin syndrome 510.7
5dwarfism10.5
6wolf-hirschhorn syndrome10.3
7cerebritis10.3

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

Symptoms:

 47 (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 90)
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 the epiphyses 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 clavicles 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 autosomal recessive inheritance HP:0000007
30 cryptorchidism HP:0000028
31 shawl scrotum HP:0000049
32 micropenis HP:0000054
33 clitoromegaly HP:0000057
34 hypoplastic labia majora HP:0000059
35 hypoplastic labia minora HP:0000064
36 narrow mouth HP:0000160
37 cleft palate HP:0000175
38 thick lower lip vermilion HP:0000179
39 high palate HP:0000218
40 small anterior fontanelle HP:0000237
41 microcephaly HP:0000252
42 hypoplasia of the maxilla HP:0000327
43 micrognathia HP:0000347
44 hearing impairment HP:0000365
45 low-set ears HP:0000369
46 incomplete partition of the cochlea type ii HP:0000376
47 atresia of the external auditory canal HP:0000413
48 strabismus HP:0000486
49 long eyelashes HP:0000527
50 blepharophimosis HP:0000581
51 microdontia HP:0000691
52 pectus carinatum HP:0000768
53 short ribs HP:0000773
54 thin ribs HP:0000883
55 hooked clavicles HP:0000895
56 flat glenoid fossa HP:0000911
57 thin skin HP:0000963
58 intellectual disability HP:0001249
59 joint laxity HP:0001388
60 heterogeneous HP:0001425
61 failure to thrive HP:0001508
62 intrauterine growth retardation HP:0001511
63 small for gestational age HP:0001518
64 breech presentation HP:0001623
65 talipes equinovarus HP:0001762
66 hyperconvex nail HP:0001795
67 frontal bossing HP:0002007
68 gastroesophageal reflux HP:0002020
69 respiratory distress HP:0002098
70 abnormality of pelvic girdle bone morphology HP:0002644
71 delayed skeletal maturation HP:0002750
72 genu valgum HP:0002857
73 hemivertebrae HP:0002937
74 genu varum HP:0002970
75 elbow dislocation HP:0003042
76 slender long bone HP:0003100
77 breast hypoplasia HP:0003187
78 birth length less than 3rd percentile HP:0003561
79 clinodactyly of the 5th finger HP:0004209
80 short palm HP:0004279
81 aplasia/hypoplasia of the patella HP:0006498
82 absent glenoid fossa HP:0006591
83 absent sternal ossification HP:0006628
84 microtia HP:0008551
85 feeding difficulties in infancy HP:0008872
86 joint contracture of the hand HP:0009473
87 cutaneous finger syndactyly HP:0010554
88 camptodactyly HP:0012385
89 short palpebral fissure HP:0012745
90 small hand HP:0200055

Drugs & Therapeutics for Meier-Gorlin Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Meier-Gorlin Syndrome 1

Search NIH Clinical Center for Meier-Gorlin Syndrome 1

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 Syndrome20 22
2 Meier-Gorlin Syndrome 120 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

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

31
Bone, Breast, Testes, Lung, 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:

62
id Symbol AA change Variation ID SNP ID
1ORC1p.Phe89SerVAR_065481
2ORC1p.Arg105GlnVAR_065482
3ORC1p.Glu127GlyVAR_065483
4ORC1p.Arg666TrpVAR_065484rs201253919
5ORC1p.Arg720GlnVAR_065485

Clinvar genetic disease variations for Meier-Gorlin Syndrome 1:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1CDT1NM_030928.3(CDT1): c.832+1G> Asingle nucleotide variantPathogenicGRCh38Chr 16, 88805870: 88805870
2ORC1NM_004153.3(ORC1): c.380A> G (p.Glu127Gly)single nucleotide variantPathogenicrs387906826GRCh37Chr 1, 52863379: 52863379
3ORC1NM_004153.3(ORC1): c.266T> C (p.Phe89Ser)single nucleotide variantPathogenicrs387906827GRCh37Chr 1, 52863493: 52863493
4ORC1NM_004153.3(ORC1): c.314G> A (p.Arg105Gln)single nucleotide variantPathogenicrs143141689GRCh37Chr 1, 52863445: 52863445
5ORC1NM_004153.3(ORC1): c.2159G> A (p.Arg720Gln)single nucleotide variantPathogenicrs387906828GRCh37Chr 1, 52841246: 52841246
6ORC1ORC1, 2-BP DEL/1-BP INS, NT2000indelPathogenic
7ORC1ORC1, IVS9, G-A, -2single nucleotide variantPathogenic
8ORC1NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp)single nucleotide variantPathogenicrs201253919GRCh37Chr 1, 52849109: 52849109
9CDC6NM_001254.3(CDC6): c.968C> G (p.Thr323Arg)single nucleotide variantPathogenicrs387906842GRCh37Chr 17, 38450640: 38450640
10ORC4NM_181742.3(ORC4): c.521A> G (p.Tyr174Cys)single nucleotide variantPathogenicrs387906847GRCh37Chr 2, 148710009: 148710009
11ORC4ORC4, 4-BP INS, 874AACAinsertionPathogenic
12ORC4ORC4, 38-KB DELdeletionPathogenic
13CDT1NM_030928.3(CDT1): c.1385G> A (p.Arg462Gln)single nucleotide variantPathogenicrs387906917GRCh37Chr 16, 88873798: 88873798
14CDT1CDT1, TYR520TERundetermined variantPathogenic
15CDT1CDT1, IVS2, G-C, +1single nucleotide variantPathogenic
16CDT1NM_030928.3(CDT1): c.196G> A (p.Ala66Thr)single nucleotide variantPathogenicrs387906918GRCh37Chr 16, 88870435: 88870435
17CDT1NM_030928.3(CDT1): c.1402G> A (p.Glu468Lys)single nucleotide variantPathogenicrs200652608GRCh37Chr 16, 88873815: 88873815
18ORC6ORC6, 2-BP DEL, 257TTdeletionPathogenic
19ORC6NM_014321.3(ORC6): c.695A> C (p.Tyr232Ser)single nucleotide variantPathogenicrs387906969GRCh37Chr 16, 46731433: 46731433

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CDT1, ORC1
29.4ORC1, CDC6
39.4CDC6, ORC1
49.3CDT1, CDC6
5
Show member pathways
8.4ORC6, ORC1, CDC6, CDT1
6
Show member pathways
Cell cycle36
8.1CDC6, ORC1, ORC4, ORC6
7
Show member pathways
8.1CDC6, ORC1, ORC4, ORC6
8
Show member pathways
7.5ORC6, ORC4, ORC1, CDC6, CDT1
9
Show member pathways
7.5ORC6, ORC4, ORC1, CDC6, CDT1
10
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
7.5ORC6, ORC4, ORC1, CDC6, CDT1
11
Show member pathways
Cell cycle Start of DNA replication in early S phase58
DNA Replication36
7.5CDT1, CDC6, ORC1, ORC4, ORC6

Compounds 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:00008088.7ORC1, ORC4, ORC6
2nuclear origin of replication recognition complexGO:00056648.6ORC1, ORC4, ORC6
3nucleusGO:00056348.1CDT1, CDC6, ORC1, ORC4
4nucleoplasmGO:00056547.2ORC6, ORC4, ORC1, CDC6, CDT1

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

idNameGO IDScoreTop Affiliating Genes
1DNA replication initiationGO:00062709.2ORC1, ORC4
2DNA replication checkpointGO:00000769.0CDT1, CDC6
3regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00000838.8CDT1, CDC6, ORC1
4DNA replicationGO:00062607.6CDT1, CDC6, ORC1, ORC4, ORC6
5G1/S transition of mitotic cell cycleGO:00000827.6ORC6, ORC4, ORC1, CDC6, CDT1
6mitotic cell cycleGO:00002787.5ORC6, ORC4, ORC1, CDC6, CDT1

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.4CDC6, ORC1
2nucleotide bindingGO:00001668.9CDC6, ORC4
3nucleoside-triphosphatase activityGO:00171118.7CDC6, ORC1, ORC4
4DNA bindingGO:00036778.7CDT1, ORC1, ORC6
5ATP bindingGO:00055248.6ORC4, ORC1, CDC6
6protein bindingGO:00055157.6CDT1, CDC6, ORC1, ORC4, ORC6

Products for genes affiliated with Meier-Gorlin Syndrome 1

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Sources for Meier-Gorlin Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet