MGORS6
MCID: MRG014
MIFTS: 25

Meier-Gorlin Syndrome 6 (MGORS6)

Categories: Bone 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 : 73 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 eye, and related phenotypes are delayed skeletal maturation and delayed speech and language development

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

More information from OMIM: 616835 PS224690

Related Diseases for Meier-Gorlin Syndrome 6

Symptoms & Phenotypes for Meier-Gorlin Syndrome 6

Human phenotypes related to Meier-Gorlin Syndrome 6:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 very rare (1%) HP:0002750
2 delayed speech and language development 31 very rare (1%) HP:0000750
3 microtia 31 very rare (1%) HP:0008551
4 thick vermilion border 31 very rare (1%) HP:0012471
5 anteverted nares 31 very rare (1%) HP:0000463
6 gastroesophageal reflux 31 very rare (1%) HP:0002020
7 failure to thrive 31 very rare (1%) HP:0001508
8 emphysema 31 very rare (1%) HP:0002097
9 feeding difficulties 31 very rare (1%) HP:0011968
10 frontal bossing 31 very rare (1%) HP:0002007
11 motor delay 31 very rare (1%) HP:0001270
12 downslanted palpebral fissures 31 very rare (1%) HP:0000494
13 laryngomalacia 31 very rare (1%) HP:0001601
14 microretrognathia 31 very rare (1%) HP:0000308
15 underdeveloped nasal alae 31 very rare (1%) HP:0000430
16 posteriorly rotated ears 31 very rare (1%) HP:0000358
17 severe short stature 31 very rare (1%) HP:0003510
18 small for gestational age 31 very rare (1%) HP:0001518
19 patellar aplasia 31 very rare (1%) HP:0006443
20 tracheobronchomalacia 31 very rare (1%) HP:0002786
21 intellectual disability 31 HP:0001249
22 depressed nasal bridge 31 HP:0005280
23 hip dysplasia 31 HP:0001385
24 recurrent respiratory infections 31 HP:0002205
25 umbilical hernia 31 HP:0001537
26 short nose 31 HP:0003196
27 microcephaly 31 HP:0000252
28 delayed puberty 31 HP:0000823
29 strabismus 31 HP:0000486
30 cleft palate 31 HP:0000175
31 cryptorchidism 31 HP:0000028
32 conductive hearing impairment 31 HP:0000405
33 depressed nasal ridge 31 HP:0000457
34 sandal gap 31 HP:0001852
35 high forehead 31 HP:0000348
36 midface retrusion 31 HP:0011800
37 stenosis of the external auditory canal 31 HP:0000402
38 hypoplastic labia majora 31 HP:0000059
39 short middle phalanx of finger 31 HP:0005819
40 growth hormone deficiency 31 HP:0000824
41 entropion 31 HP:0000621
42 delayed myelination 31 HP:0012448
43 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
motor delay
delayed myelination
speech delay
simplified gyral pattern, mild

Skeletal Pelvis:
hip dysplasia

Abdomen External Features:
umbilical hernia

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems in infancy

Growth Other:
failure to thrive

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

Head And Neck Mouth:
cleft palate
full lips

Skeletal Feet:
sandal gap
planovalgus

Respiratory Airways:
tracheomalacia
bronchomalacia

Skeletal:
delayed bone age

Skeletal Limbs:
aplastic patellae

Skeletal Spine:
lumbar lordosis, excessive

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

Respiratory:
recurrent respiratory infections

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Larynx:
laryngomalacia

Genitourinary External Genitalia Female:
hypoplastic labia majora

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

Growth Weight:
low birthweight for gestational age

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

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 29 GMNN

Anatomical Context for Meier-Gorlin Syndrome 6

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

40
Bone, Eye

Publications for Meier-Gorlin Syndrome 6

Articles related to Meier-Gorlin Syndrome 6:

# Title Authors PMID Year
1
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 6 56
26637980 2015
2
Meier-Gorlin syndrome: report of eight additional cases and review. 6 56
11477602 2001
3
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. 56
22333897 2012
4
Direct interaction of geminin and Six3 in eye development. 6
14973488 2004

Variations for Meier-Gorlin Syndrome 6

ClinVar genetic disease variations for Meier-Gorlin Syndrome 6:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GMNN NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)SNV Pathogenic 203999 rs864309486 6:24777490-24777490 6:24777262-24777262
2 GMNN NM_015895.5(GMNN):c.35_38del (p.Ile12fs)deletion Pathogenic 204000 rs864309487 6:24777507-24777510 6:24777279-24777282
3 GMNN NM_015895.5(GMNN):c.50A>G (p.Lys17Arg)SNV Likely pathogenic 204001 rs864309488 6:24777524-24777524 6:24777296-24777296

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

73
# Symbol AA change Variation ID SNP ID
1 GMNN p.Lys17Arg VAR_076172 rs864309488

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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