MCID: MRG011
MIFTS: 22

Meier-Gorlin Syndrome 4

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

Aliases & Classifications for Meier-Gorlin Syndrome 4

MalaCards integrated aliases for Meier-Gorlin Syndrome 4:

Name: Meier-Gorlin Syndrome 4 54 24 71 29 13 69
Mgors4 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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 failure to thrive, microcephaly and low-set ears. An important gene associated with Meier-Gorlin Syndrome 4 is CDT1 (Chromatin Licensing And DNA Replication Factor 1). Affiliated tissues include bone and breast.

Description from OMIM: 613804

Related Diseases for Meier-Gorlin Syndrome 4

Symptoms & Phenotypes for Meier-Gorlin Syndrome 4

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
abnormally formed ears

Growth- Weight:
birth weight less than 3rd percentile

Genitourinary- External Genitalia Male:
cryptorchidism

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

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

Abdomen- Gastroin testinal:
feeding difficulties in early infancy

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

Head And Neck- Head:
microcephaly

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

Chest- Breasts:
breast hypoplasia

Skeletal- Limbs:
slender long bones
genu recurvatum
absent patellae

Respiratory:
respiratory problems

Respiratory- Lung:
emphysema, congenital


Clinical features from OMIM:

613804

Human phenotypes related to Meier-Gorlin Syndrome 4:

32 (show all 19)
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 intrauterine growth retardation 32 HP:0001511
6 birth length less than 3rd percentile 32 HP:0003561
7 breast hypoplasia 32 HP:0003187
8 cryptorchidism 32 HP:0000028
9 feeding difficulties 32 HP:0011968
10 patellar aplasia 32 HP:0006443
11 microtia 32 HP:0008551
12 delayed skeletal maturation 32 HP:0002750
13 emphysema 32 HP:0002097
14 thick lower lip vermilion 32 HP:0000179
15 genu recurvatum 32 HP:0002816
16 narrow mouth 32 HP:0000160
17 hypoplasia of the maxilla 32 HP:0000327
18 slender long bone 32 HP:0003100
19 lateral clavicle hook 32 HP:0000895

UMLS symptoms related to Meier-Gorlin Syndrome 4:


respiratory problems

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:

id Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 4 29 24 CDT1

Anatomical Context for Meier-Gorlin Syndrome 4

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

39
Bone, Breast

Publications for Meier-Gorlin Syndrome 4

Variations for Meier-Gorlin Syndrome 4

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

71
id 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
id 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
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
Content
Loading form....