MCID: MRG009
MIFTS: 22

Meier-Gorlin Syndrome 2

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

Aliases & Classifications for Meier-Gorlin Syndrome 2

MalaCards integrated aliases for Meier-Gorlin Syndrome 2:

Name: Meier-Gorlin Syndrome 2 54 24 71 29 13 69
Mgors2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
meier-gorlin syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 2

UniProtKB/Swiss-Prot : 71 Meier-Gorlin syndrome 2: 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.

MalaCards based summary : Meier-Gorlin Syndrome 2, is also known as mgors2, and has symptoms including failure to thrive, microcephaly and micrognathia. An important gene associated with Meier-Gorlin Syndrome 2 is ORC4 (Origin Recognition Complex Subunit 4). Affiliated tissues include bone and breast.

Description from OMIM: 613800

Related Diseases for Meier-Gorlin Syndrome 2

Symptoms & Phenotypes for Meier-Gorlin Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature
birth length less than 3rd percentile

Skeletal:
delayed bone age

Head And Neck- Face:
flat philtrum
micrognathia
mandibular hypoplasia

Growth- Weight:
birth weight less than 3rd percentile

Abdomen- Gastroin testinal:
gastroesophageal reflux
feeding problems in early infancy

Skeletal- Limbs:
slender long bones
absent or hypoplastic patellae (in some patients)
hyperextensible joints, especially elbows and knees

Head And Neck- Ears:
simple ears
microtia, bilateral
small external auditory meatus

Respiratory:
respiratory problems

Voice:
high-pitched voice

Growth- Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck- Head:
microcephaly
dolichocephaly

Head And Neck- Mouth:
small mouth

Chest- Breasts:
breast hypoplasia

Genitourinary- External Genitalia Female:
clitoromegaly
hypoplastic labia majora, mild

Respiratory- Airways:
tracheomalacia
bronchomalacia

Head And Neck- Nose:
hypoplastic nasal alae (slight)

Skeletal- Hands:
camptodactyly, distal interphalangeal, of second, third, and fourth fingers
camptodactyly, proximal interphalangeal, of fifth fingers


Clinical features from OMIM:

613800

Human phenotypes related to Meier-Gorlin Syndrome 2:

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 microcephaly 32 HP:0000252
3 micrognathia 32 HP:0000347
4 intrauterine growth retardation 32 HP:0001511
5 birth length less than 3rd percentile 32 HP:0003561
6 breast hypoplasia 32 HP:0003187
7 gastroesophageal reflux 32 HP:0002020
8 hypoplastic labia majora 32 HP:0000059
9 joint hypermobility 32 HP:0001382
10 feeding difficulties 32 HP:0011968
11 tracheomalacia 32 HP:0002779
12 smooth philtrum 32 HP:0000319
13 dolichocephaly 32 HP:0000268
14 microtia 32 HP:0008551
15 delayed skeletal maturation 32 HP:0002750
16 bronchomalacia 32 HP:0002780
17 high pitched voice 32 HP:0001620
18 clitoral hypertrophy 32 HP:0008665
19 narrow mouth 32 HP:0000160
20 underdeveloped nasal alae 32 HP:0000430
21 aplasia/hypoplasia of the patella 32 occasional (7.5%) HP:0006498
22 slender long bone 32 HP:0003100

UMLS symptoms related to Meier-Gorlin Syndrome 2:


respiratory problems

Drugs & Therapeutics for Meier-Gorlin Syndrome 2

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 2

Genetic Tests for Meier-Gorlin Syndrome 2

Genetic tests related to Meier-Gorlin Syndrome 2:

id Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 2 29 24 ORC4

Anatomical Context for Meier-Gorlin Syndrome 2

MalaCards organs/tissues related to Meier-Gorlin Syndrome 2:

39
Bone, Breast

Publications for Meier-Gorlin Syndrome 2

Variations for Meier-Gorlin Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 2:

71
id Symbol AA change Variation ID SNP ID
1 ORC4 p.Tyr174Cys VAR_065486 rs387906847

ClinVar genetic disease variations for Meier-Gorlin Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ORC4 NM_002552.4(ORC4): c.521A> G (p.Tyr174Cys) single nucleotide variant Pathogenic/Likely pathogenic rs387906847 GRCh37 Chromosome 2, 148710009: 148710009
2 ORC4 NM_181742.3(ORC4): c.870_873dupAACA (p.Ala292Asnfs) duplication Pathogenic rs797044461 GRCh37 Chromosome 2, 148696794: 148696797
3 ORC4 NM_181742.3(ORC4): c.(-18+1_-17-1)_(762+1_773-1)del deletion Pathogenic GRCh38 Chromosome 2, 147943523: 148020607
4 ORC4 NM_002552.4(ORC4): c.1226delC (p.Thr409Ilefs) deletion Pathogenic rs797045852 GRCh37 Chromosome 2, 148693164: 148693164
5 ORC4 NM_001190879.2(ORC4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs1085307083 GRCh38 Chromosome 2, 147975958: 147975958

Expression for Meier-Gorlin Syndrome 2

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 2.

Pathways for Meier-Gorlin Syndrome 2

GO Terms for Meier-Gorlin Syndrome 2

Sources for Meier-Gorlin Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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