MCID: MRG014
MIFTS: 20

Meier-Gorlin Syndrome 6

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

Aliases & Classifications for Meier-Gorlin Syndrome 6

MalaCards integrated aliases for Meier-Gorlin Syndrome 6:

Name: Meier-Gorlin Syndrome 6 57 75 29 6
Mgors6 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
meier-gorlin syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 6

UniProtKB/Swiss-Prot : 75 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 cryptorchidism and hypoplastic labia majora

Description from OMIM: 616835

Related Diseases for Meier-Gorlin Syndrome 6

Symptoms & Phenotypes for Meier-Gorlin Syndrome 6

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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Meier-Gorlin Syndrome 6:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypoplastic labia majora 32 HP:0000059
3 microretrognathia 32 very rare (1%) HP:0000308
4 posteriorly rotated ears 32 very rare (1%) HP:0000358
5 stenosis of the external auditory canal 32 HP:0000402
6 conductive hearing impairment 32 HP:0000405
7 underdeveloped nasal alae 32 very rare (1%) HP:0000430
8 depressed nasal ridge 32 HP:0000457
9 anteverted nares 32 very rare (1%) HP:0000463
10 downslanted palpebral fissures 32 very rare (1%) HP:0000494
11 delayed speech and language development 32 very rare (1%) HP:0000750
12 delayed puberty 32 HP:0000823
13 growth hormone deficiency 32 HP:0000824
14 motor delay 32 very rare (1%) HP:0001270
15 hip dysplasia 32 HP:0001385
16 failure to thrive 32 very rare (1%) HP:0001508
17 small for gestational age 32 very rare (1%) HP:0001518
18 umbilical hernia 32 HP:0001537
19 laryngomalacia 32 very rare (1%) HP:0001601
20 frontal bossing 32 very rare (1%) HP:0002007
21 gastroesophageal reflux 32 very rare (1%) HP:0002020
22 emphysema 32 very rare (1%) HP:0002097
23 recurrent respiratory infections 32 HP:0002205
24 delayed skeletal maturation 32 very rare (1%) HP:0002750
25 tracheobronchomalacia 32 very rare (1%) HP:0002786
26 severe short stature 32 very rare (1%) HP:0003510
27 short middle phalanx of finger 32 HP:0005819
28 patellar aplasia 32 very rare (1%) HP:0006443
29 microtia 32 very rare (1%) HP:0008551
30 feeding difficulties 32 very rare (1%) HP:0011968
31 thick vermilion border 32 very rare (1%) HP:0012471

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

Publications for Meier-Gorlin Syndrome 6

Variations for Meier-Gorlin Syndrome 6

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

75
# 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 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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