MCID: MCR353
MIFTS: 20

Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

MalaCards integrated aliases for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome:

Name: Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome 57 75 73
Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 57 75 29 13 6 40
Mmfd 57 75
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 59
Macrocephaly Macrosomia Facial Dysmorphism Syndrome 37

Characteristics:

Orphanet epidemiological data:

59
overgrowth-macrocephaly-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

32
macrocephaly, macrosomia, and facial dysmorphism syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

UniProtKB/Swiss-Prot : 75 Macrocephaly, macrosomia, facial dysmorphism syndrome: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction.

MalaCards based summary : Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome, is also known as macrocephaly, macrosomia, facial dysmorphism syndrome. An important gene associated with Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome is RNF135 (Ring Finger Protein 135). Affiliated tissues include heart, and related phenotypes are macrocephaly and hearing impairment

Description from OMIM: 614192

Related Diseases for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Symptoms & Phenotypes for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Clinical features from OMIM:

614192

Human phenotypes related to Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
3 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
4 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
5 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
6 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
7 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
8 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
9 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
10 optic nerve hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000609
11 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
12 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
13 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
14 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
15 large for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001520
16 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
17 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
18 overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001548
19 speech apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011098
20 cranial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000267
21 unilateral cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0012741
22 malformation of the heart and great vessels 59 Occasional (29-5%)
23 abnormality of the pulmonary valve 59 Occasional (29-5%)
24 tall stature 59 Very frequent (99-80%)
25 abnormality of the sternum 59 Occasional (29-5%)
26 abnormality of cardiovascular system morphology 59 Occasional (29-5%)
27 aplasia/hypoplasia of the optic nerve 59 Occasional (29-5%)
28 abnormal pulmonary valve morphology 32 occasional (7.5%) HP:0001641

Drugs & Therapeutics for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Search Clinical Trials , NIH Clinical Center for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Genetic Tests for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Genetic tests related to Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome:

# Genetic test Affiliating Genes
1 Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome 29 RNF135

Anatomical Context for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

MalaCards organs/tissues related to Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome:

41
Heart

Publications for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Variations for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 RNF135 p.Arg286His VAR_037652 rs121918162

ClinVar genetic disease variations for Macrocephaly, Macrosomia, and 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 Pathogenic rs121918161 GRCh37 Chromosome 17, 29324307: 29324307
2 RNF135 NM_032322.3(RNF135): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs121918161 GRCh38 Chromosome 17, 30997289: 30997289
3 RNF135 NM_032322.3(RNF135): c.742delC (p.Leu248Serfs) deletion Pathogenic rs724159977 GRCh37 Chromosome 17, 29324322: 29324322
4 RNF135 NM_032322.3(RNF135): c.742delC (p.Leu248Serfs) deletion Pathogenic 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 Pathogenic rs121918162 GRCh37 Chromosome 17, 29325767: 29325767
8 RNF135 NM_032322.3(RNF135): c.857G> A (p.Arg286His) single nucleotide variant Pathogenic rs121918162 GRCh38 Chromosome 17, 30998749: 30998749

Expression for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Search GEO for disease gene expression data for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome.

Pathways for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

GO Terms for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

Sources for Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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