MCID: OVR110
MIFTS: 13

Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

MalaCards integrated aliases for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome:

Name: Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
overgrowth-macrocephaly-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:



Summaries for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

MalaCards based summary : Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome An important gene associated with Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome is RNF135 (Ring Finger Protein 135). Affiliated tissues include heart, and related phenotypes are macrocephaly and abnormal facial shape

Related Diseases for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Symptoms & Phenotypes for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Human phenotypes related to Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
3 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
4 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
5 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
6 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
7 broad nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000455
8 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219
9 large for gestational age 60 33 hallmark (90%) Very frequent (99-80%) HP:0001520
10 overgrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001548
11 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
12 pectus carinatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000768
13 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
14 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
15 optic nerve hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000609
16 pulmonic stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001642
17 accelerated skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005616
18 autistic behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000729
19 speech apraxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011098
20 cranial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000267
21 unilateral cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0012741
22 abnormal pulmonary valve morphology 33 occasional (7.5%) HP:0001641
23 malformation of the heart and great vessels 60 Occasional (29-5%)
24 abnormality of the pulmonary valve 60 Occasional (29-5%)
25 tall stature 60 Very frequent (99-80%)
26 abnormality of the sternum 60 Occasional (29-5%)
27 abnormality of cardiovascular system morphology 60 Occasional (29-5%)
28 aplasia/hypoplasia of the optic nerve 60 Occasional (29-5%)

Drugs & Therapeutics for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Search Clinical Trials , NIH Clinical Center for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Genetic Tests for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Anatomical Context for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

MalaCards organs/tissues related to Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome:

42
Heart

Publications for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Variations for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

ClinVar genetic disease variations for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RNF135 NM_032322.3(RNF135): c.727C> T (p.Gln243Ter) single nucleotide variant Uncertain significance rs121918161 GRCh37 Chromosome 17, 29324307: 29324307
2 RNF135 NM_032322.3(RNF135): c.727C> T (p.Gln243Ter) single nucleotide variant Uncertain significance rs121918161 GRCh38 Chromosome 17, 30997289: 30997289
3 RNF135 NM_032322.3(RNF135): c.742delC (p.Leu248Serfs) deletion Uncertain significance rs724159977 GRCh37 Chromosome 17, 29324322: 29324322
4 RNF135 NM_032322.3(RNF135): c.742delC (p.Leu248Serfs) deletion Uncertain significance rs724159977 GRCh38 Chromosome 17, 30997304: 30997304
5 RNF135 NM_032322.3(RNF135): c.1015delG (p.Val339Serfs) deletion Pathogenic rs724159978 GRCh37 Chromosome 17, 29325925: 29325925
6 RNF135 NM_032322.3(RNF135): c.1015delG (p.Val339Serfs) deletion Pathogenic rs724159978 GRCh38 Chromosome 17, 30998907: 30998907
7 RNF135 NM_032322.3(RNF135): c.857G> A (p.Arg286His) single nucleotide variant Uncertain significance rs121918162 GRCh37 Chromosome 17, 29325767: 29325767
8 RNF135 NM_032322.3(RNF135): c.857G> A (p.Arg286His) single nucleotide variant Uncertain significance rs121918162 GRCh38 Chromosome 17, 30998749: 30998749
9 RNF135 NC_000017.10: g.29302441_29326846dup duplication Uncertain significance GRCh37 Chromosome 17, 29302441: 29326846

Expression for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Search GEO for disease gene expression data for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome.

Pathways for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

GO Terms for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Sources for Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....