MGORS5
MCID: MRG012
MIFTS: 23

Meier-Gorlin Syndrome 5 (MGORS5)

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

Aliases & Classifications for Meier-Gorlin Syndrome 5

MalaCards integrated aliases for Meier-Gorlin Syndrome 5:

Name: Meier-Gorlin Syndrome 5 56 12 73 29 13 6 71
Mgors5 56 73
Meier-Gorlin Syndrome, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
meier-gorlin syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 5

UniProtKB/Swiss-Prot : 73 Meier-Gorlin syndrome 5: 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 5, is also known as mgors5. An important gene associated with Meier-Gorlin Syndrome 5 is CDC6 (Cell Division Cycle 6). Affiliated tissues include bone, and related phenotypes are low-set ears and clinodactyly

Disease Ontology : 12 A Meier-Gorlin syndrome that has material basis in homozygous mutation in the CDC6 gene on chromosome 17q21.

More information from OMIM: 613805 PS224690

Related Diseases for Meier-Gorlin Syndrome 5

Symptoms & Phenotypes for Meier-Gorlin Syndrome 5

Human phenotypes related to Meier-Gorlin Syndrome 5:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 clinodactyly 31 HP:0030084
3 failure to thrive 31 HP:0001508
4 delayed skeletal maturation 31 HP:0002750
5 microtia 31 HP:0008551
6 feeding difficulties 31 HP:0011968
7 cryptorchidism 31 HP:0000028
8 micrognathia 31 HP:0000347
9 intrauterine growth retardation 31 HP:0001511
10 microcephaly 31 HP:0000252
11 gastroesophageal reflux 31 HP:0002020
12 long philtrum 31 HP:0000343
13 slender long bone 31 HP:0003100
14 motor delay 31 HP:0001270
15 micropenis 31 HP:0000054
16 hypoplasia of the maxilla 31 HP:0000327
17 small earlobe 31 HP:0000385
18 elbow dislocation 31 HP:0003042
19 triangular face 31 HP:0000325
20 prominent metopic ridge 31 HP:0005487
21 mild global developmental delay 31 HP:0011342
22 patellar aplasia 31 HP:0006443
23 birth length less than 3rd percentile 31 HP:0003561
24 hypoplasia of the capital femoral epiphysis 31 HP:0003090
25 irregular femoral epiphysis 31 HP:0006361

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
hypoplastic lobules
microtia, bilateral
small external auditory meatus
absent helices, bilaterally

Growth Height:
short stature
birth length less than 3rd percentile

Head And Neck Face:
micrognathia
long philtrum
triangular face
maxillary hypoplasia
mandibular hypoplasia

Skeletal Limbs:
elbow dislocation
slender long bones
absent patellae
elbow hypermobility
knee hypermobility
more
Skeletal Skull:
prominent metopic suture

Neurologic Central Nervous System:
psychomotor retardation, mild

Head And Neck Mouth:
lips full
palate cleft, submucous

Chest Ribs Sternum Clavicles And Scapulae:
shoulder hypermobility

Skeletal Feet:
clinodactyly, fifth toes

Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Head And Neck Head:
microcephaly

Skeletal:
delayed bone age

Growth Weight:
birth weight less than 3rd percentile

Abdomen Gastrointestinal:
feeding problems in early infancy
gastroesophageal reflux in early infancy

Head And Neck Teeth:
teeth small

Skeletal Hands:
clinodactyly, fifth fingers
finger hypermobility

Clinical features from OMIM:

613805

Drugs & Therapeutics for Meier-Gorlin Syndrome 5

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 5

Genetic Tests for Meier-Gorlin Syndrome 5

Genetic tests related to Meier-Gorlin Syndrome 5:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 5 29 CDC6

Anatomical Context for Meier-Gorlin Syndrome 5

MalaCards organs/tissues related to Meier-Gorlin Syndrome 5:

40
Bone

Publications for Meier-Gorlin Syndrome 5

Articles related to Meier-Gorlin Syndrome 5:

# Title Authors PMID Year
1
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 56 6
21358632 2011
2
Meier-Gorlin syndrome: report of eight additional cases and review. 56 6
11477602 2001

Variations for Meier-Gorlin Syndrome 5

ClinVar genetic disease variations for Meier-Gorlin Syndrome 5:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDC6 NM_001254.4(CDC6):c.968C>G (p.Thr323Arg)SNV Pathogenic 30271 rs387906842 17:38450640-38450640 17:40294388-40294388
2 CDC6 NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter)SNV Conflicting interpretations of pathogenicity 323055 rs200468440 17:38447857-38447857 17:40291605-40291605
3 CDC6 NM_001254.4(CDC6):c.1556T>G (p.Leu519Ter)SNV Uncertain significance 631769 rs372396327 17:38457823-38457823 17:40301571-40301571
4 CDC6 NM_001254.4(CDC6):c.1321G>A (p.Val441Ile)SNV Benign 128635 rs13706 17:38457151-38457151 17:40300899-40300899

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 5:

73
# Symbol AA change Variation ID SNP ID
1 CDC6 p.Thr323Arg VAR_065493 rs387906842

Expression for Meier-Gorlin Syndrome 5

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 5.

Pathways for Meier-Gorlin Syndrome 5

GO Terms for Meier-Gorlin Syndrome 5

Sources for Meier-Gorlin Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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