MCID: ORF035
MIFTS: 34

Orofaciodigital Syndrome Iv

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Respiratory diseases, Bone diseases, Fetal diseases, Oral diseases, Eye diseases, Nephrological diseases

Aliases & Classifications for Orofaciodigital Syndrome Iv

MalaCards integrated aliases for Orofaciodigital Syndrome Iv:

Name: Orofaciodigital Syndrome Iv 57 12 53 75 13
Baraitser-Burn Syndrome 57 12 53 59 75
Ofd4 57 12 53 59 75
Orofaciodigital Syndrome 4 53 75 44 73
Ofd Syndrome with Tibial Defects 57 53 75
Mohr-Majewski Syndrome 57 59 75
Oral-Facial-Digital Syndrome, Type Iv 57 75
Oral-Facial-Digital Syndrome Type 4 53 59
Ofds Iv 57 75
Orofaciodigital Syndrome with Tibial Dysplasia 53
Oral Facial Digital Syndrome Type 4 53
Ofd Syndrome, Baraitser-Burn Type 57
Orofaciodigital Syndrome, Type Iv 40
Ofd Syndrome Baraitser-Burn Type 75
Orofaciodigital Syndrome Type 4 59
Oral Facial Digital Syndrome 4 53
Oral-Facial-Digital Syndrome 4 75
Ofd Syndrome 4 53
Ofds 4 53

Characteristics:

Orphanet epidemiological data:

59
orofaciodigital syndrome type 4
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
orofaciodigital syndrome iv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Iv

UniProtKB/Swiss-Prot : 75 Orofaciodigital syndrome 4: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients.

MalaCards based summary : Orofaciodigital Syndrome Iv, also known as baraitser-burn syndrome, is related to short-rib thoracic dysplasia 6 with or without polydactyly and cerebritis. An important gene associated with Orofaciodigital Syndrome Iv is TCTN3 (Tectonic Family Member 3). Affiliated tissues include tongue, brain and kidney, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 An orofaciodigital syndrome characterized by severe tibial dysplasia and has material basis in homozygous or compound heterozygous mutation in the TCTN3 gene on chromosome 10q24.

NIH Rare Diseases : 53 Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the middle portion of the lower leg (mesomelic limb shortening with tibial dysplasia). Orofaciodigital syndrome 4 is inherited in an autosomal recessive fashion. The condition appears to be caused by mutations in the tectonic family member 3 gene (TCTN3).

Description from OMIM: 258860

Related Diseases for Orofaciodigital Syndrome Iv

Symptoms & Phenotypes for Orofaciodigital Syndrome Iv

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

Chest External Features:
pectus excavatum

Growth Height:
short stature

Head And Neck Face:
micrognathia

Skeletal Feet:
syndactyly
preaxial and/or postaxial polydactyly

Head And Neck Ears:
low-set ears

Skeletal Hands:
clinodactyly
brachydactyly
syndactyly
preaxial and/or postaxial polydactyly

Head And Neck Mouth:
cleft palate
lobulated tongue
tongue nodules
high-arched palate
oral frenula

Neurologic Central Nervous System:
cerebral atrophy
porencephaly

Skeletal Limbs:
short tibiae


Clinical features from OMIM:

258860

Human phenotypes related to Orofaciodigital Syndrome Iv:

59 32 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
4 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
5 abnormality of eye movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0000496
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
10 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
11 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
12 laryngomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001601
13 cleft palate 59 32 Frequent (79-30%) HP:0000175
14 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
15 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
16 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
17 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
18 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
19 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
20 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
21 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
22 primary adrenal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008207
23 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
24 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
25 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
26 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
27 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
28 choanal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000453
29 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
30 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
31 split hand 59 32 frequent (33%) Frequent (79-30%) HP:0001171
32 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
33 oligohydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001562
34 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
35 rectovaginal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000143
36 preaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001177
37 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
38 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
39 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
40 abnormality of cardiovascular system morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0030680
41 median cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000161
42 submucous cleft hard palate 59 32 frequent (33%) Frequent (79-30%) HP:0000176
43 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
44 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
45 hamartoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0010566
46 abnormality of the tongue 59 32 hallmark (90%) Very frequent (99-80%) HP:0000157
47 abnormality of the gingiva 59 32 hallmark (90%) Very frequent (99-80%) HP:0000168
48 absent testis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010469
49 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
50 aplasia/hypoplasia of the tibia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005772

Drugs & Therapeutics for Orofaciodigital Syndrome Iv

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Iv

Cochrane evidence based reviews: orofaciodigital syndrome 4

Genetic Tests for Orofaciodigital Syndrome Iv

Anatomical Context for Orofaciodigital Syndrome Iv

MalaCards organs/tissues related to Orofaciodigital Syndrome Iv:

41
Tongue, Brain, Kidney, Lung, Bone, Eye, Testis

Publications for Orofaciodigital Syndrome Iv

Articles related to Orofaciodigital Syndrome Iv:

# Title Authors Year
1
TCTN3 mutations cause Mohr-Majewski syndrome. ( 22883145 )
2012
2
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. ( 17535085 )
2007
3
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. ( 10422014 )
1999

Variations for Orofaciodigital Syndrome Iv

ClinVar genetic disease variations for Orofaciodigital Syndrome Iv:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCTN3 TCTN3, GLN480TER single nucleotide variant Pathogenic
2 TCTN3 TCTN3, 4-BP DEL, NT650 deletion Pathogenic
3 TCTN3 NM_015631.5(TCTN3): c.1327C> T (p.Gln443Ter) single nucleotide variant Pathogenic rs387907273 GRCh37 Chromosome 10, 97442533: 97442533
4 TCTN3 NM_015631.5(TCTN3): c.1327C> T (p.Gln443Ter) single nucleotide variant Pathogenic rs387907273 GRCh38 Chromosome 10, 95682776: 95682776
5 TCTN3 NM_015631.5(TCTN3): c.566_567delAG (p.Glu189Valfs) deletion Pathogenic rs793888507 GRCh37 Chromosome 10, 97447409: 97447410
6 TCTN3 NM_015631.5(TCTN3): c.566_567delAG (p.Glu189Valfs) deletion Pathogenic rs793888507 GRCh38 Chromosome 10, 95687652: 95687653
7 TCTN3 NM_015631.5(TCTN3): c.1348_1349delCT (p.Leu450Serfs) deletion Pathogenic rs768525869 GRCh37 Chromosome 10, 97442511: 97442512
8 TCTN3 NM_015631.5(TCTN3): c.1348_1349delCT (p.Leu450Serfs) deletion Pathogenic rs768525869 GRCh38 Chromosome 10, 95682754: 95682755
9 TCTN3 NM_015631.5(TCTN3): c.877C> T (p.Gln293Ter) single nucleotide variant Pathogenic rs764091969 GRCh38 Chromosome 10, 95686506: 95686506
10 TCTN3 NM_015631.5(TCTN3): c.877C> T (p.Gln293Ter) single nucleotide variant Pathogenic rs764091969 GRCh37 Chromosome 10, 97446263: 97446263
11 TCTN3 NM_015631.5(TCTN3): c.1425G> A (p.Arg475=) single nucleotide variant Likely benign rs144543830 GRCh37 Chromosome 10, 97442435: 97442435
12 TCTN3 NM_015631.5(TCTN3): c.1425G> A (p.Arg475=) single nucleotide variant Likely benign rs144543830 GRCh38 Chromosome 10, 95682678: 95682678
13 TCTN3 NM_015631.5(TCTN3): c.1271T> G (p.Val424Gly) single nucleotide variant Uncertain significance rs200705429 GRCh37 Chromosome 10, 97442885: 97442885
14 TCTN3 NM_015631.5(TCTN3): c.1271T> G (p.Val424Gly) single nucleotide variant Uncertain significance rs200705429 GRCh38 Chromosome 10, 95683128: 95683128
15 TCTN3 NM_015631.5(TCTN3): c.211G> T (p.Val71Leu) single nucleotide variant Benign/Likely benign rs138495428 GRCh37 Chromosome 10, 97453446: 97453446
16 TCTN3 NM_015631.5(TCTN3): c.211G> T (p.Val71Leu) single nucleotide variant Benign/Likely benign rs138495428 GRCh38 Chromosome 10, 95693689: 95693689
17 TCTN3 NM_015631.5(TCTN3): c.728A> G (p.Asn243Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 95687255: 95687255
18 TCTN3 NM_015631.5(TCTN3): c.728A> G (p.Asn243Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 97447012: 97447012
19 TCTN3 NM_015631.5(TCTN3): c.946A> G (p.Thr316Ala) single nucleotide variant Likely benign rs200042949 GRCh37 Chromosome 10, 97445336: 97445336
20 TCTN3 NM_015631.5(TCTN3): c.946A> G (p.Thr316Ala) single nucleotide variant Likely benign rs200042949 GRCh38 Chromosome 10, 95685579: 95685579
21 TCTN3 NM_015631.5(TCTN3): c.9C> A (p.Thr3=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 97453648: 97453648
22 TCTN3 NM_015631.5(TCTN3): c.9C> A (p.Thr3=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 95693891: 95693891

Expression for Orofaciodigital Syndrome Iv

Search GEO for disease gene expression data for Orofaciodigital Syndrome Iv.

Pathways for Orofaciodigital Syndrome Iv

GO Terms for Orofaciodigital Syndrome Iv

Sources for Orofaciodigital Syndrome Iv

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