MCID: MRG008
MIFTS: 45

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

About this section
Sources:
49OMIM, 11diseasecard, 22GeneTests, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 49 11 22 67
Meier-Gorlin Syndrome 10 45 22 23 12 51 24 36
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Summaries for Meier-Gorlin Syndrome 1

About this section
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 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 DNA damage_ATM/ATR regulation of G1/S checkpoint and Cell Cycle Control of Chromosomal Replication. 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.

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.

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.

Related Diseases for Meier-Gorlin Syndrome 1

About this section

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



Diseases related to meier-gorlin syndrome 1

Symptoms for Meier-Gorlin Syndrome 1

About this section

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 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 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 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 lateral clavicle hook 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

About this section

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

About this section

Genetic tests related to Meier-Gorlin Syndrome 1:

id Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome22 24
2 Meier-Gorlin Syndrome 122 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

About this section

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

33
Bone, Breast, Testes, Skin, Lung

Animal Models for Meier-Gorlin Syndrome 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Meier-Gorlin Syndrome 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Meier-Gorlin Syndrome 1

About this section

Variations for Meier-Gorlin Syndrome 1

About this section

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_065485

Clinvar genetic disease variations for Meier-Gorlin Syndrome 1:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1CDT1NM_030928.3(CDT1): c.832+1G> Asingle nucleotide variantPathogenicrs587780305GRCh38Chr 16, 88805870: 88805870
2ORC4NM_002552.4(ORC4): c.1226delC (p.Thr409Ilefs)deletionPathogenicrs797045852GRCh37Chr 2, 148693164: 148693164
3ORC1NM_004153.3(ORC1): c.380A> G (p.Glu127Gly)single nucleotide variantPathogenicrs387906826GRCh37Chr 1, 52863379: 52863379
4ORC1NM_004153.3(ORC1): c.266T> C (p.Phe89Ser)single nucleotide variantPathogenicrs387906827GRCh37Chr 1, 52863493: 52863493
5ORC1NM_004153.3(ORC1): c.314G> A (p.Arg105Gln)single nucleotide variantPathogenicrs143141689GRCh37Chr 1, 52863445: 52863445
6ORC1NM_004153.3(ORC1): c.2159G> A (p.Arg720Gln)single nucleotide variantPathogenicrs387906828GRCh37Chr 1, 52841246: 52841246
7ORC1ORC1, 2-BP DEL/1-BP INS, NT2000indelPathogenic
8ORC1ORC1, IVS9, G-A, -2single nucleotide variantPathogenic
9ORC1NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp)single nucleotide variantPathogenicrs201253919GRCh37Chr 1, 52849109: 52849109
10CDC6NM_001254.3(CDC6): c.968C> G (p.Thr323Arg)single nucleotide variantPathogenicrs387906842GRCh37Chr 17, 38450640: 38450640
11ORC4NM_002552.4(ORC4): c.521A> G (p.Tyr174Cys)single nucleotide variantLikely pathogenic, Pathogenicrs387906847GRCh37Chr 2, 148710009: 148710009
12ORC4NM_181742.3(ORC4): c.870_873dupAACA (p.Ala292Asnfs)duplicationPathogenicrs797044461GRCh37Chr 2, 148696794: 148696797
13ORC4NM_181742.3(ORC4): c.(?_-17-1)_(762+1_?)deldeletionPathogenicGRCh38Chr 2, 147943523: 148020607
14CDT1NM_030928.3(CDT1): c.1385G> A (p.Arg462Gln)single nucleotide variantPathogenicrs387906917GRCh37Chr 16, 88873798: 88873798
15CDT1CDT1, TYR520TERundetermined variantPathogenic
16CDT1CDT1, IVS2DS, G-C, +1single nucleotide variantPathogenic
17CDT1NM_030928.3(CDT1): c.196G> A (p.Ala66Thr)single nucleotide variantPathogenicrs387906918GRCh37Chr 16, 88870435: 88870435
18CDT1NM_030928.3(CDT1): c.1402G> A (p.Glu468Lys)single nucleotide variantPathogenicrs200652608GRCh37Chr 16, 88873815: 88873815
19ORC6NM_014321.3(ORC6): c.257_258delTT (p.Phe86Terfs)deletionPathogenicrs786205258GRCh38Chr 16, 46692443: 46692444
20ORC6NM_014321.3(ORC6): c.695A> C (p.Tyr232Ser)single nucleotide variantPathogenicrs387906969GRCh37Chr 16, 46731433: 46731433

Expression for genes affiliated with Meier-Gorlin Syndrome 1

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

Pathways for genes affiliated with Meier-Gorlin Syndrome 1

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ATR, ATRIP
29.1CDC6, CDT1, ORC1, ORC4, ORC6
3
Show member pathways
9.1CDC6, CDT1, ORC1, ORC4, ORC6
48.8ATR, CDC6, ORC1, ORC4, ORC6
5
Show member pathways
8.4ATR, ATRIP, CDC6, ORC1, ORC4, ORC6
68.4ATR, ATRIP, CDC6, CDT1, ORC1, ORC6
7
Show member pathways
8.1ATR, ATRIP, CDC6, CDT1, ORC1, ORC4
8
Show member pathways
6.6ATR, ATRIP, CDC6, CDT1, CEP152, CEP63

GO Terms for genes affiliated with Meier-Gorlin Syndrome 1

About this section

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

idNameGO IDScoreTop Affiliating Genes
1origin recognition complexGO:000080810.4ORC1, ORC4, ORC6
2nuclear origin of replication recognition complexGO:000566410.4ORC1, ORC4, ORC6
3nucleoplasmGO:00056547.3ATR, ATRIP, CDC6, CDT1, CEP152, KAT6B

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA replication initiationGO:000627010.2CDC6, ORC1, ORC4
2DNA replication checkpointGO:000007610.1CDC6, CDT1
3centriole replicationGO:000709910.1CEP152, CEP63
4de novo centriole assemblyGO:009853510.1CEP152, CEP63
5negative regulation of DNA replicationGO:000815610.0ATR, CDC6
6regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00000839.8CDC6, CDT1, ORC1
7interstrand cross-link repairGO:00362979.7ATR, ATRIP
8positive regulation of intracellular protein transportGO:00903169.5ASPH, PCNT
9DNA damage checkpointGO:00000779.5ATR, ATRIP, CEP63
10G1/S transition of mitotic cell cycleGO:00000829.3CDC6, CDT1, ORC1, ORC4, ORC6
11G2/M transition of mitotic cell cycleGO:00000869.2CEP152, CEP63, PCNT
12limb morphogenesisGO:00351089.1ASPH, PCNT
13DNA replicationGO:00062607.8ATR, ATRIP, CDC6, CDT1, ORC1, ORC4
14mitotic cell cycleGO:00002787.5CDC6, CDT1, CEP152, CEP63, ORC1, ORC4

Sources for Meier-Gorlin Syndrome 1

About this section
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