MGORS6
MCID: MRG014
MIFTS: 23

Meier-Gorlin Syndrome 6 (MGORS6)

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

Aliases & Classifications for Meier-Gorlin Syndrome 6

Summaries for Meier-Gorlin Syndrome 6

UniProtKB/Swiss-Prot : 76 Meier-Gorlin syndrome 6: A form of Meier-Gorlin syndrome, 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 6, is also known as mgors6. An important gene associated with Meier-Gorlin Syndrome 6 is GMNN (Geminin DNA Replication Inhibitor). Affiliated tissues include bone, and related phenotypes are frontal bossing and failure to thrive

Disease Ontology : 12 A Meier-Gorlin syndrome that has material basis in heterozygous mutation in the GMNN gene on chromosome 6p22.

Description from OMIM: 616835

Related Diseases for Meier-Gorlin Syndrome 6

Symptoms & Phenotypes for Meier-Gorlin Syndrome 6

Human phenotypes related to Meier-Gorlin Syndrome 6:

33 (show all 42)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 very rare (1%) HP:0002007
2 failure to thrive 33 very rare (1%) HP:0001508
3 delayed skeletal maturation 33 very rare (1%) HP:0002750
4 delayed speech and language development 33 very rare (1%) HP:0000750
5 microtia 33 very rare (1%) HP:0008551
6 thick vermilion border 33 very rare (1%) HP:0012471
7 anteverted nares 33 very rare (1%) HP:0000463
8 gastroesophageal reflux 33 very rare (1%) HP:0002020
9 laryngomalacia 33 very rare (1%) HP:0001601
10 emphysema 33 very rare (1%) HP:0002097
11 feeding difficulties 33 very rare (1%) HP:0011968
12 motor delay 33 very rare (1%) HP:0001270
13 underdeveloped nasal alae 33 very rare (1%) HP:0000430
14 downslanted palpebral fissures 33 very rare (1%) HP:0000494
15 severe short stature 33 very rare (1%) HP:0003510
16 microretrognathia 33 very rare (1%) HP:0000308
17 posteriorly rotated ears 33 very rare (1%) HP:0000358
18 tracheobronchomalacia 33 very rare (1%) HP:0002786
19 patellar aplasia 33 very rare (1%) HP:0006443
20 small for gestational age 33 very rare (1%) HP:0001518
21 intellectual disability 33 HP:0001249
22 hip dysplasia 33 HP:0001385
23 recurrent respiratory infections 33 HP:0002205
24 depressed nasal bridge 33 HP:0005280
25 umbilical hernia 33 HP:0001537
26 short nose 33 HP:0003196
27 delayed puberty 33 HP:0000823
28 cleft palate 33 HP:0000175
29 strabismus 33 HP:0000486
30 cryptorchidism 33 HP:0000028
31 depressed nasal ridge 33 HP:0000457
32 conductive hearing impairment 33 HP:0000405
33 sandal gap 33 HP:0001852
34 high forehead 33 HP:0000348
35 midface retrusion 33 HP:0011800
36 stenosis of the external auditory canal 33 HP:0000402
37 hypoplastic labia majora 33 HP:0000059
38 short middle phalanx of finger 33 HP:0005819
39 growth hormone deficiency 33 HP:0000824
40 entropion 33 HP:0000621
41 delayed myelination 33 HP:0012448
42 simplified gyral pattern 33 HP:0009879

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
micrognathia
retrognathia
high forehead
midface hypoplasia

Growth Other:
failure to thrive

Respiratory:
recurrent respiratory infections

Abdomen External Features:
umbilical hernia

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems in infancy

Respiratory Larynx:
laryngomalacia

Head And Neck Mouth:
cleft palate
full lips

Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Airways:
tracheomalacia
bronchomalacia

Skeletal:
delayed bone age

Growth Weight:
low birthweight for gestational age

Skeletal Hands:
midphalangeal hypoplasia of the 5th fingers (bilateral)
palmar crease

Neurologic Central Nervous System:
intellectual disability
motor delay
delayed myelination
speech delay
simplified gyral pattern, mild

Skeletal Pelvis:
hip dysplasia

Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares
upturned nose
hypoplastic nares

Head And Neck Ears:
microtia
posteriorly rotated ears
hearing loss, conductive

Growth Height:
short stature
small for gestational age

Endocrine Features:
delayed puberty
growth hormone deficiency

Respiratory Lung:
emphysema

Head And Neck Eyes:
strabismus
entropion
downslanting palpebral fissures

Skeletal Feet:
sandal gap
planovalgus

Genitourinary External Genitalia Female:
hypoplastic labia majora

Skeletal Limbs:
aplastic patellae

Skeletal Spine:
lumbar lordosis, excessive

Neurologic Peripheral Nervous System:
'onion bulb' formations seen on nerve biopsy

Clinical features from OMIM:

616835

Drugs & Therapeutics for Meier-Gorlin Syndrome 6

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 6

Genetic Tests for Meier-Gorlin Syndrome 6

Genetic tests related to Meier-Gorlin Syndrome 6:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 6 30 GMNN

Anatomical Context for Meier-Gorlin Syndrome 6

MalaCards organs/tissues related to Meier-Gorlin Syndrome 6:

42
Bone

Publications for Meier-Gorlin Syndrome 6

Articles related to Meier-Gorlin Syndrome 6:

# Title Authors Year
1
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. ( 26637980 )
2015
2
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. ( 22333897 )
2012
3
Meier-Gorlin syndrome: report of eight additional cases and review. ( 11477602 )
2001

Variations for Meier-Gorlin Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 6:

76
# Symbol AA change Variation ID SNP ID
1 GMNN p.Lys17Arg VAR_076172 rs864309488

ClinVar genetic disease variations for Meier-Gorlin Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GMNN NM_015895.4(GMNN): c.16A> T (p.Lys6Ter) single nucleotide variant Pathogenic rs864309486 GRCh37 Chromosome 6, 24777490: 24777490
2 GMNN NM_015895.4(GMNN): c.16A> T (p.Lys6Ter) single nucleotide variant Pathogenic rs864309486 GRCh38 Chromosome 6, 24777262: 24777262
3 GMNN NM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs) deletion Pathogenic rs864309487 GRCh37 Chromosome 6, 24777509: 24777512
4 GMNN NM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs) deletion Pathogenic rs864309487 GRCh38 Chromosome 6, 24777281: 24777284
5 GMNN NM_015895.4(GMNN): c.50A> G (p.Lys17Arg) single nucleotide variant Likely pathogenic rs864309488 GRCh37 Chromosome 6, 24777524: 24777524
6 GMNN NM_015895.4(GMNN): c.50A> G (p.Lys17Arg) single nucleotide variant Likely pathogenic rs864309488 GRCh38 Chromosome 6, 24777296: 24777296

Expression for Meier-Gorlin Syndrome 6

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 6.

Pathways for Meier-Gorlin Syndrome 6

GO Terms for Meier-Gorlin Syndrome 6

Sources for Meier-Gorlin Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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