MCID: MRG010
MIFTS: 23

Meier-Gorlin Syndrome 3

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

Aliases & Classifications for Meier-Gorlin Syndrome 3

Summaries for Meier-Gorlin Syndrome 3

UniProtKB/Swiss-Prot : 71 Meier-Gorlin syndrome 3: 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 3, also known as mgors3, is related to meier-gorlin syndrome 1, and has symptoms including dyspnea, low-set ears and failure to thrive. An important gene associated with Meier-Gorlin Syndrome 3 is ORC6 (Origin Recognition Complex Subunit 6). Affiliated tissues include bone.

Description from OMIM: 613803

Related Diseases for Meier-Gorlin Syndrome 3

Diseases in the Meier-Gorlin Syndrome 1 family:

Meier-Gorlin Syndrome 2 Meier-Gorlin Syndrome 3
Meier-Gorlin Syndrome 4 Meier-Gorlin Syndrome 5
Meier-Gorlin Syndrome 6 Meier-Gorlin Syndrome 7
Meier-Gorlin Syndrome 8

Diseases related to Meier-Gorlin Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 meier-gorlin syndrome 1 10.1

Symptoms & Phenotypes for Meier-Gorlin Syndrome 3

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
posteriorly rotated ears
microtia, bilateral
ears abnormally formed

Head And Neck Head:
microcephaly

Abdomen Gastroin testinal:
gastroesophageal reflux
feeding problems in early infancy

Chest RibsSternum Clavicles And Scapulae:
narrow chest
short thorax
short ribs
lack of sternal ossification

Skeletal Limbs:
genu varum
coxa vara
absent or hypoplastic patellae
slender long bones
abnormal humeral epiphyses with flat metaphyses
more
Respiratory Airways:
tracheomalacia
bronchomalacia

Head And Neck Eyes:
downslanting palpebral fissures

Skeletal:
delayed bone age

Skeletal Feet:
club feet

Growth Weight:
birth weight less than 3rd percentile

Genitourinary External Genitalia Female:
hypertrophic clitoris
hypoplastic labia minora/majora

Skeletal Hands:
clinodactyly, fifth finger

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

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

Respiratory Larynx:
laryngomalacia

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
micropenis
hypoplastic scrotum

Head And Neck Face:
triangular face
microretrognathia
maxillary hypoplasia
mandibular hypoplasia

Chest Breasts:
breast hypoplasia

Head And Neck Mouth:
small mouth
full lips

Head And Neck Nose:
high nasal bridge
convex nasal profile

Respiratory Lung:
pulmonary infections, recurrent
dyspnea secondary to thorax morphology

Neurologic Central Nervous System:
delayed motor development (in some patients)
delayed speech development (in some patients)

Skeletal Skull:
frontal circular lacuna

Skin Nails Hair Hair:
absent or sparse axillary hair
absent or sparse pubic hair


Clinical features from OMIM:

613803

Human phenotypes related to Meier-Gorlin Syndrome 3:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 dyspnea 31 HP:0002094
2 low-set ears 31 HP:0000369
3 failure to thrive 31 HP:0001508
4 delayed skeletal maturation 31 HP:0002750
5 delayed speech and language development 31 occasional (7.5%) HP:0000750
6 microtia 31 HP:0008551
7 microcephaly 31 HP:0000252
8 gastroesophageal reflux 31 HP:0002020
9 laryngomalacia 31 HP:0001601
10 feeding difficulties 31 HP:0011968
11 thick lower lip vermilion 31 HP:0000179
12 narrow chest 31 HP:0000774
13 short thorax 31 HP:0010306
14 cryptorchidism 31 HP:0000028
15 intrauterine growth retardation 31 HP:0001511
16 prominent nasal bridge 31 HP:0000426
17 hypospadias 31 HP:0000047
18 hypoplasia of the maxilla 31 HP:0000327
19 downslanted palpebral fissures 31 HP:0000494
20 narrow mouth 31 HP:0000160
21 talipes equinovarus 31 HP:0001762
22 genu varum 31 HP:0002970
23 recurrent pneumonia 31 HP:0006532
24 triangular face 31 HP:0000325
25 microretrognathia 31 HP:0000308
26 tracheomalacia 31 HP:0002779
27 coxa vara 31 HP:0002812
28 motor delay 31 occasional (7.5%) HP:0001270
29 scrotal hypoplasia 31 HP:0000046
30 aplasia/hypoplasia of the patella 31 HP:0006498
31 micropenis 31 HP:0000054
32 slender long bone 31 HP:0003100
33 posteriorly rotated ears 31 HP:0000358
34 breast hypoplasia 31 HP:0003187
35 short ribs 31 HP:0000773
36 clitoral hypertrophy 31 HP:0008665
37 birth length less than 3rd percentile 31 HP:0003561
38 absent sternal ossification 31 HP:0006628
39 bronchomalacia 31 HP:0002780

Drugs & Therapeutics for Meier-Gorlin Syndrome 3

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 3

Genetic Tests for Meier-Gorlin Syndrome 3

Genetic tests related to Meier-Gorlin Syndrome 3:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 3 28 ORC6

Anatomical Context for Meier-Gorlin Syndrome 3

MalaCards organs/tissues related to Meier-Gorlin Syndrome 3:

38
Bone

Publications for Meier-Gorlin Syndrome 3

Articles related to Meier-Gorlin Syndrome 3:

# Title Authors Year
1
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. ( 25691413 )
2015

Variations for Meier-Gorlin Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 3:

71
# Symbol AA change Variation ID SNP ID
1 ORC6 p.Tyr232Ser VAR_065487 rs387906969

ClinVar genetic disease variations for Meier-Gorlin Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ORC6 NM_014321.3(ORC6): c.257_258delTT (p.Phe86Terfs) deletion Pathogenic rs786205258 GRCh38 Chromosome 16, 46692443: 46692444
2 ORC6 NM_014321.3(ORC6): c.695A> C (p.Tyr232Ser) single nucleotide variant Pathogenic rs387906969 GRCh37 Chromosome 16, 46731433: 46731433
3 ORC6 NM_014321.3(ORC6): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs146795505 GRCh37 Chromosome 16, 46723619: 46723619
4 ORC6 NM_014321.3(ORC6): c.449+5G> A single nucleotide variant Pathogenic rs572314014 GRCh38 Chromosome 16, 46693187: 46693187
5 ORC6 NM_014321.3(ORC6): c.602_605delAGAA (p.Lys201Argfs) deletion Pathogenic rs879255692 GRCh38 Chromosome 16, 46696056: 46696059
6 ORC6 NM_014321.3(ORC6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs777153067 GRCh38 Chromosome 16, 46689706: 46689706
7 ORC6 NM_014321.3(ORC6): c.235T> A (p.Tyr79Asn) single nucleotide variant Likely pathogenic rs200089121 GRCh38 Chromosome 16, 46692421: 46692421

Expression for Meier-Gorlin Syndrome 3

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 3.

Pathways for Meier-Gorlin Syndrome 3

GO Terms for Meier-Gorlin Syndrome 3

Sources for Meier-Gorlin Syndrome 3

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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