MCID: MRG012
MIFTS: 20

Meier-Gorlin Syndrome 5

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

Aliases & Classifications for Meier-Gorlin Syndrome 5

MalaCards integrated aliases for Meier-Gorlin Syndrome 5:

Name: Meier-Gorlin Syndrome 5 57 75 29 13 6 73
Mgors5 57 75
Meier-Gorlin Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
meier-gorlin syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 5

UniProtKB/Swiss-Prot : 75 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 cryptorchidism and micropenis

Description from OMIM: 613805

Related Diseases for Meier-Gorlin Syndrome 5

Symptoms & Phenotypes for Meier-Gorlin Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
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 Ribs Sternum 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 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

Human phenotypes related to Meier-Gorlin Syndrome 5:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 micropenis 32 HP:0000054
3 microcephaly 32 HP:0000252
4 triangular face 32 HP:0000325
5 hypoplasia of the maxilla 32 HP:0000327
6 long philtrum 32 HP:0000343
7 micrognathia 32 HP:0000347
8 low-set ears 32 HP:0000369
9 small earlobe 32 HP:0000385
10 motor delay 32 HP:0001270
11 failure to thrive 32 HP:0001508
12 intrauterine growth retardation 32 HP:0001511
13 gastroesophageal reflux 32 HP:0002020
14 delayed skeletal maturation 32 HP:0002750
15 elbow dislocation 32 HP:0003042
16 hypoplasia of the capital femoral epiphysis 32 HP:0003090
17 slender long bone 32 HP:0003100
18 birth length less than 3rd percentile 32 HP:0003561
19 prominent metopic ridge 32 HP:0005487
20 irregular femoral epiphysis 32 HP:0006361
21 patellar aplasia 32 HP:0006443
22 microtia 32 HP:0008551
23 mild global developmental delay 32 HP:0011342
24 feeding difficulties 32 HP:0011968

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:

41
Bone

Publications for Meier-Gorlin Syndrome 5

Variations for Meier-Gorlin Syndrome 5

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

75
# 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
2 CDC6 NM_001254.3(CDC6): c.968C> G (p.Thr323Arg) single nucleotide variant Pathogenic rs387906842 GRCh38 Chromosome 17, 40294388: 40294388

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 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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