MCID: OVR110
MIFTS: 15

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 58

Characteristics:

Orphanet epidemiological data:

58
overgrowth-macrocephaly-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
4 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
5 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
6 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
7 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
8 large for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001520
9 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
10 overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0001548
11 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
12 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
13 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
14 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 abnormal pulmonary valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001641
16 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
17 accelerated skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005616
18 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
19 speech apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011098
20 optic nerve hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000609
21 unilateral cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0012741
22 cranial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000267
23 malformation of the heart and great vessels 58 Occasional (29-5%)
24 tall stature 58 Very frequent (99-80%)
25 abnormality of the sternum 58 Occasional (29-5%)
26 abnormality of cardiovascular system morphology 58 Occasional (29-5%)
27 aplasia/hypoplasia of the optic nerve 58 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:

40
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 Name Type Significance ClinVarId dbSNP ID Position
1 RNF135 NM_032322.4(RNF135):c.727C>T (p.Gln243Ter) SNV Uncertain significance 975 rs121918161 GRCh37: 17:29324307-29324307
GRCh38: 17:30997289-30997289
2 RNF135 NM_032322.4(RNF135):c.742del (p.Leu248fs) Deletion Uncertain significance 976 rs724159977 GRCh37: 17:29324322-29324322
GRCh38: 17:30997304-30997304
3 RNF135 NM_032322.4(RNF135):c.857G>A (p.Arg286His) SNV Uncertain significance 978 rs121918162 GRCh37: 17:29325767-29325767
GRCh38: 17:30998749-30998749
4 RNF135 Duplication Uncertain significance 560092 GRCh37: 17:29302441-29326846
GRCh38:
5 RNF135 NM_032322.4(RNF135):c.1015del (p.Val339fs) Deletion Uncertain significance 977 rs724159978 GRCh37: 17:29325924-29325924
GRCh38: 17:30998906-30998906

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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