MGORS8
MCID: MRG016
MIFTS: 29

Meier-Gorlin Syndrome 8 (MGORS8)

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

Aliases & Classifications for Meier-Gorlin Syndrome 8

MalaCards integrated aliases for Meier-Gorlin Syndrome 8:

Name: Meier-Gorlin Syndrome 8 57 12 72 29 6 15
Mgors8 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated july 2017)


HPO:

31
meier-gorlin syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 8

UniProtKB/Swiss-Prot : 72 Meier-Gorlin syndrome 8: 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. MGORS8 inheritance is autosomal recessive.

MalaCards based summary : Meier-Gorlin Syndrome 8, also known as mgors8, is related to isolated growth hormone deficiency, type ia and autosomal recessive cerebellar ataxia. An important gene associated with Meier-Gorlin Syndrome 8 is MCM5 (Minichromosome Maintenance Complex Component 5). Related phenotypes are ptosis and microtia

Disease Ontology : 12 A Meier-Gorlin syndrome that has material basis in compound heterozygous mutation in the MCM5 gene on chromosome 22q12.

More information from OMIM: 617564 PS224690

Related Diseases for Meier-Gorlin Syndrome 8

Graphical network of the top 20 diseases related to Meier-Gorlin Syndrome 8:



Diseases related to Meier-Gorlin Syndrome 8

Symptoms & Phenotypes for Meier-Gorlin Syndrome 8

Human phenotypes related to Meier-Gorlin Syndrome 8:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 microtia 31 HP:0008551
3 thick vermilion border 31 HP:0012471
4 microcephaly 31 HP:0000252
5 intrauterine growth retardation 31 HP:0001511
6 micrognathia 31 HP:0000347
7 low-set ears 31 HP:0000369
8 narrow mouth 31 HP:0000160
9 renal hypoplasia 31 HP:0000089
10 decreased body weight 31 HP:0004325
11 bilateral cryptorchidism 31 HP:0008689

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
microtia
low-set ears

Head And Neck Face:
micrognathia

Growth Weight:
low weight

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Genitourinary Kidneys:
renal hypoplasia, unilateral
renal ptosis, unilateral

Growth Other:
intrauterine growth retardation

Head And Neck Mouth:
thick lips
microstomia

Head And Neck Head:
small head

Growth Height:
low height

Skeletal Limbs:
bilateral absence of patellar ossification centers

Clinical features from OMIM®:

617564 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Meier-Gorlin Syndrome 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.23 MCM3AP MCM5 MCM9 TRAIP UBA5 UFL1

Drugs & Therapeutics for Meier-Gorlin Syndrome 8

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 8

Genetic Tests for Meier-Gorlin Syndrome 8

Genetic tests related to Meier-Gorlin Syndrome 8:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 8 29 MCM5

Anatomical Context for Meier-Gorlin Syndrome 8

Publications for Meier-Gorlin Syndrome 8

Articles related to Meier-Gorlin Syndrome 8:

# Title Authors PMID Year
1
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. 6 57
28198391 2017

Variations for Meier-Gorlin Syndrome 8

ClinVar genetic disease variations for Meier-Gorlin Syndrome 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCM5 NM_006739.4(MCM5):c.850_851del (p.Arg284fs) Deletion Pathogenic 430636 rs760621295 GRCh37: 22:35806834-35806835
GRCh38: 22:35410841-35410842
2 MCM5 NM_006739.4(MCM5):c.1397C>T (p.Thr466Ile) SNV Pathogenic 430637 rs1131692169 GRCh37: 22:35812381-35812381
GRCh38: 22:35416388-35416388
3 MCM5 NM_006739.4(MCM5):c.830C>A (p.Thr277Asn) SNV Uncertain significance 1034303 GRCh37: 22:35806814-35806814
GRCh38: 22:35410821-35410821

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 8:

72
# Symbol AA change Variation ID SNP ID
1 MCM5 p.Thr466Ile VAR_079198 rs113169216

Expression for Meier-Gorlin Syndrome 8

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 8.

Pathways for Meier-Gorlin Syndrome 8

GO Terms for Meier-Gorlin Syndrome 8

Cellular components related to Meier-Gorlin Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 UFSP2 UFM1 UFL1 UBA5 TRAIP MCM5
2 nucleus GO:0005634 9.76 UFSP2 UFM1 UFL1 UBA5 TRAIP MCM9
3 endoplasmic reticulum GO:0005783 9.62 UFSP2 UFM1 UFL1 UBA5
4 chromosome GO:0005694 9.02 UFL1 TRAIP MCM9 MCM5 MCM3AP
5 MCM complex GO:0042555 8.96 MCM9 MCM5

Biological processes related to Meier-Gorlin Syndrome 8 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.67 UFL1 TRAIP MCM9
2 DNA repair GO:0006281 9.61 UFL1 TRAIP MCM9
3 response to endoplasmic reticulum stress GO:0034976 9.5 UFM1 UFL1 UBA5
4 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.48 UFL1 TRAIP
5 DNA duplex unwinding GO:0032508 9.46 MCM9 MCM5
6 reticulophagy GO:0061709 9.43 UFM1 UFL1 UBA5
7 erythrocyte differentiation GO:0030218 9.4 UFL1 UBA5
8 DNA replication initiation GO:0006270 9.37 MCM9 MCM5
9 protein ufmylation GO:0071569 9.33 UFM1 UFL1 UBA5
10 protein K69-linked ufmylation GO:1990592 9.13 UFM1 UFL1 UBA5
11 regulation of intracellular estrogen receptor signaling pathway GO:0033146 8.92 UFSP2 UFM1 UFL1 UBA5

Molecular functions related to Meier-Gorlin Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 9.16 MCM9 MCM5
2 DNA helicase activity GO:0003678 8.96 MCM9 MCM5
3 DNA replication origin binding GO:0003688 8.62 MCM9 MCM5

Sources for Meier-Gorlin Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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