MCID: MRG012
MIFTS: 21

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 54 24 71 29 13 69
Mgors5 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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 failure to thrive, microcephaly and low-set ears. 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:

54

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

Skeletal:
delayed bone age

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

Genitourinary- External Genitalia Male:
micropenis
cryptorchidism

Skeletal- Limbs:
elbow dislocation
slender long bones
absent patellae
elbow hypermobility
knee hypermobility
more
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)

Head And Neck- Head:
microcephaly

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

Growth- Weight:
birth weight less than 3rd percentile

Abdomen- Gastroin testinal:
feeding problems in early infancy
gastroesophageal reflux in early infancy

Skeletal- Skull:
prominent metopic suture

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)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 microcephaly 32 HP:0000252
3 low-set ears 32 HP:0000369
4 micrognathia 32 HP:0000347
5 micropenis 32 HP:0000054
6 intrauterine growth retardation 32 HP:0001511
7 global developmental delay 32 HP:0001263
8 birth length less than 3rd percentile 32 HP:0003561
9 gastroesophageal reflux 32 HP:0002020
10 cryptorchidism 32 HP:0000028
11 elbow dislocation 32 HP:0003042
12 long philtrum 32 HP:0000343
13 motor delay 32 HP:0001270
14 triangular face 32 HP:0000325
15 feeding difficulties 32 HP:0011968
16 patellar aplasia 32 HP:0006443
17 microtia 32 HP:0008551
18 delayed skeletal maturation 32 HP:0002750
19 prominent metopic ridge 32 HP:0005487
20 hypoplasia of the maxilla 32 HP:0000327
21 small earlobe 32 HP:0000385
22 slender long bone 32 HP:0003100
23 hypoplasia of the capital femoral epiphysis 32 HP:0003090
24 irregular femoral epiphysis 32 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:

id Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 5 29 24 CDC6

Anatomical Context for Meier-Gorlin Syndrome 5

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

39
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
id Symbol AA change Variation ID SNP ID
1 CDC6 p.Thr323Arg VAR_065493 rs387906842

ClinVar genetic disease variations for Meier-Gorlin Syndrome 5:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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