MCID: MRG010
MIFTS: 24

Meier-Gorlin Syndrome 3

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

Aliases & Classifications for Meier-Gorlin Syndrome 3

MalaCards integrated aliases for Meier-Gorlin Syndrome 3:

Name: Meier-Gorlin Syndrome 3 57 75 29 13 6 73
Mgors3 57 75
Meier-Gorlin Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
meier-gorlin syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 3

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Meier-Gorlin Syndrome 3 is ORC6 (Origin Recognition Complex Subunit 6). Affiliated tissues include bone, and related phenotypes are low-set ears and failure to thrive

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 10.2

Symptoms & Phenotypes for Meier-Gorlin Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
microtia, bilateral
ears abnormally formed

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems in early infancy

Chest Ribs Sternum 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:

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 failure to thrive 32 HP:0001508
3 delayed skeletal maturation 32 HP:0002750
4 delayed speech and language development 32 occasional (7.5%) HP:0000750
5 microtia 32 HP:0008551
6 microcephaly 32 HP:0000252
7 gastroesophageal reflux 32 HP:0002020
8 laryngomalacia 32 HP:0001601
9 dyspnea 32 HP:0002094
10 feeding difficulties 32 HP:0011968
11 thick lower lip vermilion 32 HP:0000179
12 narrow chest 32 HP:0000774
13 short thorax 32 HP:0010306
14 cryptorchidism 32 HP:0000028
15 intrauterine growth retardation 32 HP:0001511
16 prominent nasal bridge 32 HP:0000426
17 hypospadias 32 HP:0000047
18 hypoplasia of the maxilla 32 HP:0000327
19 downslanted palpebral fissures 32 HP:0000494
20 narrow mouth 32 HP:0000160
21 talipes equinovarus 32 HP:0001762
22 genu varum 32 HP:0002970
23 recurrent pneumonia 32 HP:0006532
24 triangular face 32 HP:0000325
25 microretrognathia 32 HP:0000308
26 tracheomalacia 32 HP:0002779
27 coxa vara 32 HP:0002812
28 motor delay 32 occasional (7.5%) HP:0001270
29 scrotal hypoplasia 32 HP:0000046
30 aplasia/hypoplasia of the patella 32 HP:0006498
31 micropenis 32 HP:0000054
32 slender long bone 32 HP:0003100
33 posteriorly rotated ears 32 HP:0000358
34 breast hypoplasia 32 HP:0003187
35 short ribs 32 HP:0000773
36 clitoral hypertrophy 32 HP:0008665
37 birth length less than 3rd percentile 32 HP:0003561
38 absent sternal ossification 32 HP:0006628
39 bronchomalacia 32 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 29 ORC6

Anatomical Context for Meier-Gorlin Syndrome 3

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

41
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:

75
# Symbol AA change Variation ID SNP ID
1 ORC6 p.Tyr232Ser VAR_065487 rs387906969

ClinVar genetic disease variations for Meier-Gorlin Syndrome 3:

6
(show all 14)
# 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.257_258delTT (p.Phe86Terfs) deletion Pathogenic rs786205258 GRCh37 Chromosome 16, 46726355: 46726356
3 ORC6 NM_014321.3(ORC6): c.695A> C (p.Tyr232Ser) single nucleotide variant Pathogenic rs387906969 GRCh37 Chromosome 16, 46731433: 46731433
4 ORC6 NM_014321.3(ORC6): c.695A> C (p.Tyr232Ser) single nucleotide variant Pathogenic rs387906969 GRCh38 Chromosome 16, 46697521: 46697521
5 ORC6 NM_014321.3(ORC6): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs146795505 GRCh37 Chromosome 16, 46723619: 46723619
6 ORC6 NM_014321.3(ORC6): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs146795505 GRCh38 Chromosome 16, 46689707: 46689707
7 ORC6 NM_014321.3(ORC6): c.449+5G> A single nucleotide variant Pathogenic rs572314014 GRCh38 Chromosome 16, 46693187: 46693187
8 ORC6 NM_014321.3(ORC6): c.449+5G> A single nucleotide variant Pathogenic rs572314014 GRCh37 Chromosome 16, 46727099: 46727099
9 ORC6 NM_014321.3(ORC6): c.602_605delAGAA (p.Lys201Argfs) deletion Pathogenic rs879255692 GRCh38 Chromosome 16, 46696056: 46696059
10 ORC6 NM_014321.3(ORC6): c.602_605delAGAA (p.Lys201Argfs) deletion Pathogenic rs879255692 GRCh37 Chromosome 16, 46729968: 46729971
11 ORC6 NM_014321.3(ORC6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs777153067 GRCh38 Chromosome 16, 46689706: 46689706
12 ORC6 NM_014321.3(ORC6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs777153067 GRCh37 Chromosome 16, 46723618: 46723618
13 ORC6 NM_014321.3(ORC6): c.235T> A (p.Tyr79Asn) single nucleotide variant Likely pathogenic rs200089121 GRCh38 Chromosome 16, 46692421: 46692421
14 ORC6 NM_014321.3(ORC6): c.235T> A (p.Tyr79Asn) single nucleotide variant Likely pathogenic rs200089121 GRCh37 Chromosome 16, 46726333: 46726333

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
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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