MCID: MRG009
MIFTS: 20

Meier-Gorlin Syndrome 2

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

Aliases & Classifications for Meier-Gorlin Syndrome 2

MalaCards integrated aliases for Meier-Gorlin Syndrome 2:

Name: Meier-Gorlin Syndrome 2 53 71 28 13 69
Mgors2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
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, delayed skeletal maturation and microtia. An important gene associated with Meier-Gorlin Syndrome 2 is ORC4 (Origin Recognition Complex Subunit 4). Affiliated tissues include bone.

Description from OMIM: 613800

Related Diseases for Meier-Gorlin Syndrome 2

Symptoms & Phenotypes for Meier-Gorlin Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
respiratory problems

Head And Neck Head:
microcephaly
dolichocephaly

Abdomen Gastroin testinal:
gastroesophageal reflux
feeding problems in early infancy

Respiratory Airways:
tracheomalacia
bronchomalacia

Chest Breasts:
breast hypoplasia

Skeletal:
delayed bone age

Voice:
high-pitched voice

Growth Weight:
birth weight less than 3rd percentile

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

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

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

Head And Neck Face:
micrognathia
mandibular hypoplasia
flat philtrum

Genitourinary External Genitalia Female:
clitoromegaly
hypoplastic labia majora, mild

Head And Neck Mouth:
small mouth

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

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

Head And Neck Nose:
hypoplastic nasal alae (slight)


Clinical features from OMIM:

613800

Human phenotypes related to Meier-Gorlin Syndrome 2:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 delayed skeletal maturation 31 HP:0002750
3 microtia 31 HP:0008551
4 microcephaly 31 HP:0000252
5 smooth philtrum 31 HP:0000319
6 gastroesophageal reflux 31 HP:0002020
7 micrognathia 31 HP:0000347
8 feeding difficulties 31 HP:0011968
9 dolichocephaly 31 HP:0000268
10 intrauterine growth retardation 31 HP:0001511
11 underdeveloped nasal alae 31 HP:0000430
12 joint hypermobility 31 HP:0001382
13 narrow mouth 31 HP:0000160
14 high pitched voice 31 HP:0001620
15 tracheomalacia 31 HP:0002779
16 hypoplastic labia majora 31 HP:0000059
17 aplasia/hypoplasia of the patella 31 occasional (7.5%) HP:0006498
18 slender long bone 31 HP:0003100
19 breast hypoplasia 31 HP:0003187
20 clitoral hypertrophy 31 HP:0008665
21 birth length less than 3rd percentile 31 HP:0003561
22 bronchomalacia 31 HP:0002780

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:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 2 28 ORC4

Anatomical Context for Meier-Gorlin Syndrome 2

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

38
Bone

Publications for Meier-Gorlin Syndrome 2

Variations for Meier-Gorlin Syndrome 2

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

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

ClinVar genetic disease variations for Meier-Gorlin Syndrome 2:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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