MCID: TTR024
MIFTS: 26

Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities

Categories: Ear diseases, Eye diseases, Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

MalaCards integrated aliases for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities:

Name: Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 58 54
Odontotrichomelic Syndrome 58 54 60 30 6
Freire-Maia Odontotrichomelic Syndrome 54 74
Freire-Maia Syndrome 54 60
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 74
Odontotrichomelic Hypohidrotic Dysplasia 54

Characteristics:

Orphanet epidemiological data:

60
odontotrichomelic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

NIH Rare Diseases : 54 Odontotrichomelic syndrome is a very rare ectodermal dysplasia affecting the hair, teeth, and nails and all four extremities. The main problems are malformations of all the extremities including absence of several bones in the hands and feet, abnormal teeth, and sparse hair (hypotrichosis). Other signs and symptoms may include: very small or undeveloped (hypoplastic) nails; abnormalities of the ear; excessive sweating (hyperhidrosis); an unusual facial appearance with malformed ears, large nose, high forehead, and protruding lips; as well as a flat head, long neck, and sloping shoulders with dimples on top. The cause is unknown. Inheritance is autosomal recessive. Because very few people have been described, there is no information about specific treatment.  

MalaCards based summary : Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities, also known as odontotrichomelic syndrome, is related to ectodermal dysplasia and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1. An important gene associated with Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities is ANTXR1 (ANTXR Cell Adhesion Molecule 1). Affiliated tissues include skin, thyroid and eye, and related phenotypes are intellectual disability and eeg abnormality

Description from OMIM: 273400

Related Diseases for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

Diseases related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10.4
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1

Symptoms & Phenotypes for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

Human phenotypes related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 eeg abnormality 33 HP:0002353
3 abnormality of the dentition 33 HP:0000164
4 aminoaciduria 33 HP:0003355
5 arrhythmia 33 HP:0011675
6 abnormality of the pinna 33 HP:0000377
7 hypogonadism 33 HP:0000135
8 small nail 33 HP:0001792
9 hypotrichosis 33 HP:0001006
10 abnormality of the neck 33 HP:0000464
11 nasolacrimal duct obstruction 33 HP:0000579
12 cleft upper lip 33 HP:0000204
13 hypoplastic nipples 33 HP:0002557
14 ectodermal dysplasia 33 HP:0000968
15 hypoplastic areola 33 HP:0100853
16 tetraamelia 33 HP:0003057

Symptoms via clinical synopsis from OMIM:

58
Endocrine:
hypogonadism

Eyes:
nasolacrimal duct obstruction

Nails:
hypoplastic nails

Teeth:
abnormal teeth

Mouth:
incomplete cleft lip

Ears:
deformed auricles

Lab:
abnormal ecg and eeg
high urinary tyrosine and/or tryptophane

Hair:
hypotrichosis

Skin:
ectodermal dysplasia

Neuro:
mental retardation

Limbs:
tetramelia

Thorax:
hypoplastic nipples and areolae

Neck:
thyroid enlargement

Clinical features from OMIM:

273400

Drugs & Therapeutics for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

Search Clinical Trials , NIH Clinical Center for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities

Genetic Tests for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

Genetic tests related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities:

# Genetic test Affiliating Genes
1 Odontotrichomelic Syndrome 30 ANTXR1

Anatomical Context for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

MalaCards organs/tissues related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities:

42
Skin, Thyroid, Eye

Publications for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

Articles related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities:

# Title Authors Year
1
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. ( 25045128 )
2014
2
Mutations in ANTXR1 cause GAPO syndrome. ( 23602711 )
2013
3
Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity? ( 15103722 )
2004
4
GAPO syndrome (Radiographic clues to early diagnosis). ( 9180938 )
1997
5
GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva. ( 9298746 )
1997
6
A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome. ( 2764029 )
1989
7
A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities. ( 5432287 )
1970

Variations for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

ClinVar genetic disease variations for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANTXR1 NM_032208.2(ANTXR1): c.505C> T (p.Arg169Ter) single nucleotide variant Likely pathogenic rs397514700 GRCh37 Chromosome 2, 69302734: 69302734
2 ANTXR1 NM_032208.2(ANTXR1): c.505C> T (p.Arg169Ter) single nucleotide variant Likely pathogenic rs397514700 GRCh38 Chromosome 2, 69075602: 69075602
3 ANTXR1 NM_032208.2(ANTXR1): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs397514701 GRCh37 Chromosome 2, 69271911: 69271911
4 ANTXR1 NM_032208.2(ANTXR1): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs397514701 GRCh38 Chromosome 2, 69044779: 69044779
5 ANTXR1 NM_032208.2(ANTXR1): c.1435-12A> G single nucleotide variant Pathogenic rs879255533 GRCh38 Chromosome 2, 69245213: 69245213
6 ANTXR1 NM_032208.2(ANTXR1): c.1435-12A> G single nucleotide variant Pathogenic rs879255533 GRCh37 Chromosome 2, 69472345: 69472345
7 ANTXR1 NM_032208.2(ANTXR1): c.411A> G (p.Gln137=) single nucleotide variant Likely pathogenic rs869312896 GRCh37 Chromosome 2, 69298918: 69298918
8 ANTXR1 NM_032208.2(ANTXR1): c.411A> G (p.Gln137=) single nucleotide variant Likely pathogenic rs869312896 GRCh38 Chromosome 2, 69071786: 69071786
9 ANTXR1 NM_032208.2(ANTXR1): c.1150G> A (p.Gly384Ser) single nucleotide variant Likely pathogenic rs869312897 GRCh37 Chromosome 2, 69408978: 69408978
10 ANTXR1 NM_032208.2(ANTXR1): c.1150G> A (p.Gly384Ser) single nucleotide variant Likely pathogenic rs869312897 GRCh38 Chromosome 2, 69181846: 69181846
11 ANTXR1 NM_032208.2(ANTXR1): c.1221dupT (p.Ala408Cysfs) duplication Likely pathogenic rs869312895 GRCh37 Chromosome 2, 69409660: 69409660
12 ANTXR1 NM_032208.2(ANTXR1): c.1221dupT (p.Ala408Cysfs) duplication Likely pathogenic rs869312895 GRCh38 Chromosome 2, 69182528: 69182528

Expression for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

Search GEO for disease gene expression data for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities.

Pathways for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

GO Terms for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

Sources for Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and...

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....