MCID: MRG012
MIFTS: 20

Meier-Gorlin Syndrome 5

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

Aliases & Classifications for Meier-Gorlin Syndrome 5

MalaCards integrated aliases for Meier-Gorlin Syndrome 5:

Name: Meier-Gorlin Syndrome 5 53 71 28 13 69
Mgors5 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
meier-gorlin syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 5

UniProtKB/Swiss-Prot : 71 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, and has symptoms including low-set ears, failure to thrive and delayed skeletal maturation. An important gene associated with Meier-Gorlin Syndrome 5 is CDC6 (Cell Division Cycle 6). Affiliated tissues include bone.

Description from OMIM: 613805

Related Diseases for Meier-Gorlin Syndrome 5

Symptoms & Phenotypes for Meier-Gorlin Syndrome 5

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
hypoplastic lobules
microtia, bilateral
small external auditory meatus
absent helices, bilaterally

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
micrognathia
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 RibsSternum Clavicles And Scapulae:
shoulder hypermobility

Skeletal Feet:
clinodactyly, fifth toes

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

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

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Skeletal:
delayed bone age

Growth Weight:
birth weight less than 3rd percentile

Abdomen Gastroin testinal:
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

Human phenotypes related to Meier-Gorlin Syndrome 5:

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

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 28 CDC6

Anatomical Context for Meier-Gorlin Syndrome 5

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

38
Bone

Publications for Meier-Gorlin Syndrome 5

Variations for Meier-Gorlin Syndrome 5

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

71
# Symbol AA change Variation ID SNP ID
1 CDC6 p.Thr323Arg VAR_065493 rs387906842

ClinVar genetic disease variations for Meier-Gorlin Syndrome 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC6 NM_001254.3(CDC6): c.968C> G (p.Thr323Arg) single nucleotide variant Pathogenic rs387906842 GRCh37 Chromosome 17, 38450640: 38450640

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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