MCID: MRG009
MIFTS: 20

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 57 75 29 13 6 73
Mgors2 57 75
Meier-Gorlin Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
meier-gorlin syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 2

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Meier-Gorlin Syndrome 2 is ORC4 (Origin Recognition Complex Subunit 4). Affiliated tissues include bone, and related phenotypes are hypoplastic labia majora and narrow mouth

Description from OMIM: 613800

Related Diseases for Meier-Gorlin Syndrome 2

Symptoms & Phenotypes for Meier-Gorlin Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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)

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

Head And Neck Head:
microcephaly
dolichocephaly

Abdomen Gastrointestinal:
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

Respiratory:
respiratory problems


Clinical features from OMIM:

613800

Human phenotypes related to Meier-Gorlin Syndrome 2:

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

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 29 ORC4

Anatomical Context for Meier-Gorlin Syndrome 2

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

41
Bone

Publications for Meier-Gorlin Syndrome 2

Variations for Meier-Gorlin Syndrome 2

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

75
# Symbol AA change Variation ID SNP ID
1 ORC4 p.Tyr174Cys VAR_065486 rs387906847

ClinVar genetic disease variations for Meier-Gorlin Syndrome 2:

6
(show all 12)
# 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_002552.4(ORC4): c.521A> G (p.Tyr174Cys) single nucleotide variant Pathogenic/Likely pathogenic rs387906847 GRCh38 Chromosome 2, 147952440: 147952440
3 ORC4 NM_181742.3(ORC4): c.870_873dupAACA (p.Ala292Asnfs) duplication Pathogenic rs797044461 GRCh37 Chromosome 2, 148696794: 148696797
4 ORC4 NM_181742.3(ORC4): c.870_873dupAACA (p.Ala292Asnfs) duplication Pathogenic rs797044461 GRCh38 Chromosome 2, 147939225: 147939228
5 ORC4 NM_181742.3(ORC4): c.(-18+1_-17-1)_(762+1_773-1)del deletion Pathogenic GRCh38 Chromosome 2, 147943523: 148020607
6 ORC4 NM_181742.3(ORC4): c.(-18+1_-17-1)_(762+1_773-1)del deletion Pathogenic GRCh37 Chromosome 2, 148701092: 148778176
7 ORC4 NM_002552.4(ORC4): c.287A> G (p.Gln96Arg) single nucleotide variant Uncertain significance rs138317624 GRCh37 Chromosome 2, 148716374: 148716374
8 ORC4 NM_002552.4(ORC4): c.287A> G (p.Gln96Arg) single nucleotide variant Uncertain significance rs138317624 GRCh38 Chromosome 2, 147958805: 147958805
9 ORC4 NM_002552.4(ORC4): c.1226delC (p.Thr409Ilefs) deletion Pathogenic rs797045852 GRCh37 Chromosome 2, 148693164: 148693164
10 ORC4 NM_002552.4(ORC4): c.1226delC (p.Thr409Ilefs) deletion Pathogenic rs797045852 GRCh38 Chromosome 2, 147935595: 147935595
11 ORC4 NM_001190879.2(ORC4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs1085307083 GRCh38 Chromosome 2, 147975958: 147975958
12 ORC4 NM_001190879.2(ORC4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs1085307083 GRCh37 Chromosome 2, 148733527: 148733527

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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