MCID: MRG011
MIFTS: 20

Meier-Gorlin Syndrome 4

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

Aliases & Classifications for Meier-Gorlin Syndrome 4

MalaCards integrated aliases for Meier-Gorlin Syndrome 4:

Name: Meier-Gorlin Syndrome 4 53 71 28 13 69
Mgors4 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
meier-gorlin syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 4

UniProtKB/Swiss-Prot : 71 Meier-Gorlin syndrome 4: 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 4, is also known as mgors4, and has symptoms including low-set ears, failure to thrive and delayed skeletal maturation. An important gene associated with Meier-Gorlin Syndrome 4 is CDT1 (Chromatin Licensing And DNA Replication Factor 1). Affiliated tissues include bone.

Description from OMIM: 613804

Related Diseases for Meier-Gorlin Syndrome 4

Symptoms & Phenotypes for Meier-Gorlin Syndrome 4

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
respiratory problems

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

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

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Mouth:
maxillary hypoplasia
small mouth
mandibular hypoplasia
full lips

Growth Weight:
birth weight less than 3rd percentile

Neurologic Central Nervous System:
no mental retardation
intellect high (in some patients)

Abdomen Gastroin testinal:
feeding difficulties in early infancy

Head And Neck Ears:
low-set ears
microtia
abnormally formed ears

Head And Neck Head:
microcephaly

Skeletal Limbs:
genu recurvatum
slender long bones
absent patellae

Chest Breasts:
breast hypoplasia

Skeletal:
delayed bone age

Chest RibsSternum Clavicles And Scapulae:
hook-shaped clavicles
abnormal glenoid fossa

Respiratory Lung:
emphysema, congenital


Clinical features from OMIM:

613804

Human phenotypes related to Meier-Gorlin Syndrome 4:

31 (show all 19)
# 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 emphysema 31 HP:0002097
7 micrognathia 31 HP:0000347
8 feeding difficulties 31 HP:0011968
9 thick lower lip vermilion 31 HP:0000179
10 genu recurvatum 31 HP:0002816
11 cryptorchidism 31 HP:0000028
12 intrauterine growth retardation 31 HP:0001511
13 hypoplasia of the maxilla 31 HP:0000327
14 narrow mouth 31 HP:0000160
15 slender long bone 31 HP:0003100
16 patellar aplasia 31 HP:0006443
17 breast hypoplasia 31 HP:0003187
18 lateral clavicle hook 31 HP:0000895
19 birth length less than 3rd percentile 31 HP:0003561

Drugs & Therapeutics for Meier-Gorlin Syndrome 4

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 4

Genetic Tests for Meier-Gorlin Syndrome 4

Genetic tests related to Meier-Gorlin Syndrome 4:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 4 28 CDT1

Anatomical Context for Meier-Gorlin Syndrome 4

MalaCards organs/tissues related to Meier-Gorlin Syndrome 4:

38
Bone

Publications for Meier-Gorlin Syndrome 4

Variations for Meier-Gorlin Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 4:

71
# Symbol AA change Variation ID SNP ID
1 CDT1 p.Ala66Thr VAR_065488 rs387906918
2 CDT1 p.Gln117His VAR_065489 rs779871947
3 CDT1 p.Arg453Trp VAR_065490 rs200672589
4 CDT1 p.Arg462Gln VAR_065491 rs387906917
5 CDT1 p.Glu468Lys VAR_065492 rs200652608

ClinVar genetic disease variations for Meier-Gorlin Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDT1 NM_030928.3(CDT1): c.1385G> A (p.Arg462Gln) single nucleotide variant Pathogenic/Likely pathogenic rs387906917 GRCh37 Chromosome 16, 88873798: 88873798
2 CDT1 CDT1, TYR520TER undetermined variant Pathogenic
3 CDT1 CDT1, IVS2DS, G-C, +1 single nucleotide variant Pathogenic
4 CDT1 NM_030928.3(CDT1): c.196G> A (p.Ala66Thr) single nucleotide variant Pathogenic rs387906918 GRCh37 Chromosome 16, 88870435: 88870435
5 CDT1 NM_030928.3(CDT1): c.1402G> A (p.Glu468Lys) single nucleotide variant Pathogenic rs200652608 GRCh37 Chromosome 16, 88873815: 88873815
6 CDT1 NM_030928.3(CDT1): c.832+1G> A single nucleotide variant Pathogenic rs587780305 GRCh38 Chromosome 16, 88805870: 88805870

Expression for Meier-Gorlin Syndrome 4

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 4.

Pathways for Meier-Gorlin Syndrome 4

GO Terms for Meier-Gorlin Syndrome 4

Sources for Meier-Gorlin Syndrome 4

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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