MGORS6
MCID: MRG014
MIFTS: 23

Meier-Gorlin Syndrome 6 (MGORS6)

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

Aliases & Classifications for Meier-Gorlin Syndrome 6

MalaCards integrated aliases for Meier-Gorlin Syndrome 6:

Name: Meier-Gorlin Syndrome 6 57 12 74 29 6
Mgors6 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
meier-gorlin syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080517

Summaries for Meier-Gorlin Syndrome 6

UniProtKB/Swiss-Prot : 74 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 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.

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:

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

Symptoms via clinical synopsis from OMIM:

57
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 29 GMNN

Anatomical Context for Meier-Gorlin Syndrome 6

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

41
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. 8 71
26637980 2015
2
Meier-Gorlin syndrome: report of eight additional cases and review. 8 71
11477602 2001
3
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. 8
22333897 2012
4
Direct interaction of geminin and Six3 in eye development. 71
14973488 2004

Variations for Meier-Gorlin Syndrome 6

ClinVar genetic disease variations for Meier-Gorlin Syndrome 6:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GMNN NM_015895.5(GMNN): c.16A> T (p.Lys6Ter) single nucleotide variant Pathogenic rs864309486 6:24777490-24777490 6:24777262-24777262
2 GMNN NM_015895.5(GMNN): c.35_38del (p.Ile12fs) deletion Pathogenic rs864309487 6:24777509-24777512 6:24777281-24777284
3 GMNN NM_015895.5(GMNN): c.50A> G (p.Lys17Arg) single nucleotide variant Likely pathogenic rs864309488 6:24777524-24777524 6:24777296-24777296

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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