MCID: MRG016
MIFTS: 15

Meier-Gorlin Syndrome 8

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

Aliases & Classifications for Meier-Gorlin Syndrome 8

MalaCards integrated aliases for Meier-Gorlin Syndrome 8:

Name: Meier-Gorlin Syndrome 8 57 12 75 29 6
Mgors8 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617564
Disease Ontology 12 DOID:0080255

Summaries for Meier-Gorlin Syndrome 8

UniProtKB/Swiss-Prot : 75 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).

Description from OMIM: 617564

Related Diseases for Meier-Gorlin Syndrome 8

Symptoms & Phenotypes for Meier-Gorlin Syndrome 8

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
low height

Growth Other:
intrauterine growth retardation

Head And Neck Face:
micrognathia

Head And Neck Mouth:
microstomia
thick lips

Genitourinary Kidneys:
renal hypoplasia, unilateral
renal ptosis, unilateral

Growth Weight:
low weight

Head And Neck Head:
small head

Head And Neck Ears:
microtia
low-set ears

GenitourinaryInternal GenitaliaMale:
cryptorchidism, bilateral

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 29 MCM5

Anatomical Context for Meier-Gorlin Syndrome 8

Publications for Meier-Gorlin Syndrome 8

Variations for Meier-Gorlin Syndrome 8

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

75
# Symbol AA change Variation ID SNP ID
1 MCM5 p.Thr466Ile VAR_079198

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 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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