MGORS8
MCID: MRG016
MIFTS: 18

Meier-Gorlin Syndrome 8 (MGORS8)

Categories: Bone diseases, Ear 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 58 12 76 30 6
Mgors8 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080255
OMIM 58 617564

Summaries for Meier-Gorlin Syndrome 8

UniProtKB/Swiss-Prot : 76 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, is also known as mgors8. An important gene associated with Meier-Gorlin Syndrome 8 is MCM5 (Minichromosome Maintenance Complex Component 5). Affiliated tissues include bone, and related phenotypes are low-set ears and ptosis

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

Description from OMIM: 617564

Related Diseases for Meier-Gorlin Syndrome 8

Symptoms & Phenotypes for Meier-Gorlin Syndrome 8

Human phenotypes related to Meier-Gorlin Syndrome 8:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 ptosis 33 HP:0000508
3 microtia 33 HP:0008551
4 thick vermilion border 33 HP:0012471
5 narrow mouth 33 HP:0000160
6 renal hypoplasia 33 HP:0000089

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
microtia

Growth Other:
intrauterine growth retardation

Growth Weight:
low weight

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Genitourinary Kidneys:
renal hypoplasia, unilateral
renal ptosis, unilateral

Head And Neck Face:
micrognathia

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

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 30 MCM5

Anatomical Context for Meier-Gorlin Syndrome 8

MalaCards organs/tissues related to Meier-Gorlin Syndrome 8:

42
Bone

Publications for Meier-Gorlin Syndrome 8

Articles related to Meier-Gorlin Syndrome 8:

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

Variations for Meier-Gorlin Syndrome 8

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

76
# Symbol AA change Variation ID SNP ID
1 MCM5 p.Thr466Ile VAR_079198 rs113169216

ClinVar genetic disease variations for Meier-Gorlin Syndrome 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MCM5 NM_006739.3(MCM5): c.850_851delAG (p.Arg284Glyfs) deletion Pathogenic rs760621295 GRCh38 Chromosome 22, 35410841: 35410842
2 MCM5 NM_006739.3(MCM5): c.850_851delAG (p.Arg284Glyfs) deletion Pathogenic rs760621295 GRCh37 Chromosome 22, 35806834: 35806835
3 MCM5 NM_006739.3(MCM5): c.1397C> T (p.Thr466Ile) single nucleotide variant Pathogenic rs1131692169 GRCh37 Chromosome 22, 35812381: 35812381
4 MCM5 NM_006739.3(MCM5): c.1397C> T (p.Thr466Ile) single nucleotide variant Pathogenic rs1131692169 GRCh38 Chromosome 22, 35416388: 35416388

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

Sources for Meier-Gorlin Syndrome 8

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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