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 54 24 71 29 13 69
Mgors3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
meier-gorlin syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



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, is also known as mgors3, and has symptoms including failure to thrive, microcephaly and intrauterine growth retardation. An important gene associated with Meier-Gorlin Syndrome 3 is ORC6 (Origin Recognition Complex Subunit 6). Affiliated tissues include bone and breast.

Description from OMIM: 613803

Related Diseases for Meier-Gorlin Syndrome 3

Symptoms & Phenotypes for Meier-Gorlin Syndrome 3

Symptoms via clinical synopsis from OMIM:

54

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

Skeletal:
delayed bone age

Head And Neck- Eyes:
downslanting palpebral fissures

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

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

Skeletal- Feet:
club feet

Growth- Weight:
birth weight less than 3rd percentile

Chest- Breasts:
breast hypoplasia

Skeletal- Limbs:
slender long bones
genu varum
coxa vara
abnormal humeral epiphyses with flat metaphyses
abnormal femoral epiphyses with flat metaphyses
more
Respiratory- Larynx:
laryngomalacia

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

Skeletal- Skull:
frontal circular lacuna

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

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

Head And Neck- Head:
microcephaly

Genitourinary- External Genitalia Male:
micropenis
hypospadias
cryptorchidism
hypoplastic scrotum

Head And Neck- Mouth:
small mouth
full lips

Head And Neck- Nose:
high nasal bridge
convex nasal profile

Chest- Ribs Sternum Clavicles And Scapulae:
lack of sternal ossification
short ribs
narrow chest
short thorax

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

Respiratory- Airways:
tracheomalacia
bronchomalacia

Skeletal- Hands:
clinodactyly, fifth finger

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

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 26)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 microcephaly 32 HP:0000252
3 intrauterine growth retardation 32 HP:0001511
4 birth length less than 3rd percentile 32 HP:0003561
5 short ribs 32 HP:0000773
6 breast hypoplasia 32 HP:0003187
7 cryptorchidism 32 HP:0000028
8 genu varum 32 HP:0002970
9 narrow chest 32 HP:0000774
10 microretrognathia 32 HP:0000308
11 dyspnea 32 HP:0002094
12 triangular face 32 HP:0000325
13 feeding difficulties 32 HP:0011968
14 coxa vara 32 HP:0002812
15 scrotal hypoplasia 32 HP:0000046
16 microtia 32 HP:0008551
17 delayed skeletal maturation 32 HP:0002750
18 recurrent pneumonia 32 HP:0006532
19 clitoral hypertrophy 32 HP:0008665
20 absent sternal ossification 32 HP:0006628
21 thick lower lip vermilion 32 HP:0000179
22 narrow mouth 32 HP:0000160
23 short thorax 32 HP:0010306
24 hypoplasia of the maxilla 32 HP:0000327
25 aplasia/hypoplasia of the patella 32 HP:0006498
26 slender long bone 32 HP:0003100

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:

id Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 3 29 24 ORC6

Anatomical Context for Meier-Gorlin Syndrome 3

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

39
Bone, Breast

Publications for Meier-Gorlin Syndrome 3

Articles related to Meier-Gorlin Syndrome 3:

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

ClinVar genetic disease variations for Meier-Gorlin Syndrome 3:

6
id 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 GRCh38 Chromosome 16, 46689707: 46689707
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
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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