MCID: TTR024
MIFTS: 28

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 57 20
Freire-Maia Odontotrichomelic Syndrome 20 29 70
Odontotrichomelic Syndrome 57 20 58
Freire-Maia Syndrome 20 58
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 70
Odontotrichomelic Hypohidrotic Dysplasia 20

Characteristics:

Orphanet epidemiological data:

58
odontotrichomelic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


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

GARD : 20 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 freire-maia 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 eye and thyroid, and related phenotypes are intellectual disability and eeg abnormality

More information 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 10.5
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.0
3 lacrimal duct defect 10.0
4 split-hand/foot malformation 1 10.0
5 cleft lip 10.0
6 cleft lip/palate 10.0
7 isolated split hand-split foot malformation 10.0

Graphical network of the top 20 diseases related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities:



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

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 eeg abnormality 31 HP:0002353
3 abnormality of the dentition 31 HP:0000164
4 aminoaciduria 31 HP:0003355
5 arrhythmia 31 HP:0011675
6 cleft upper lip 31 HP:0000204
7 abnormality of the neck 31 HP:0000464
8 nasolacrimal duct obstruction 31 HP:0000579
9 hypoplastic nipples 31 HP:0002557
10 sparse hair 31 HP:0008070
11 hypogonadism 31 HP:0000135
12 small nail 31 HP:0001792
13 abnormality of the pinna 31 HP:0000377
14 ectodermal dysplasia 31 HP:0000968
15 tetraamelia 31 HP:0003057
16 hypoplastic areola 31 HP:0100853

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hair:
hypotrichosis

Endocrine:
hypogonadism

Nails:
hypoplastic nails

Teeth:
abnormal teeth

Mouth:
incomplete cleft lip

Ears:
deformed auricles

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

Eyes:
nasolacrimal duct obstruction

Skin:
ectodermal dysplasia

Neuro:
mental retardation

Limbs:
tetramelia

Thorax:
hypoplastic nipples and areolae

Neck:
thyroid enlargement

Clinical features from OMIM®:

273400 (Updated 20-May-2021)

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 Freire-Maia Odontotrichomelic Syndrome 29

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

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

40
Eye, Thyroid

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

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

# Title Authors PMID Year
1
Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity? 57 61 20
15103722 2004
2
A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome. 57 61 20
2764029 1989
3
A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities. 57 61
5432287 1970
4
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. 6
25045128 2014
5
Mutations in ANTXR1 cause GAPO syndrome. 6
23602711 2013
6
GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva. 6
9298746 1997
7
GAPO syndrome (Radiographic clues to early diagnosis). 6
9180938 1997
8
Odontotrichomelic hypohidrotic dysplasia. A clinical reappraisal. 57
5036639 1972

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANTXR1 NM_018153.3(ANTXR1):c.262C>T (p.Arg88Ter) SNV Pathogenic 50907 rs397514701 GRCh37: 2:69271911-69271911
GRCh38: 2:69044779-69044779
2 ANTXR1 NM_032208.2(ANTXR1):c.1435-12A>G SNV Pathogenic 50908 rs879255533 GRCh37: 2:69472345-69472345
GRCh38: 2:69245213-69245213
3 ANTXR1 NM_032208.3(ANTXR1):c.1074del (p.Ala359fs) Deletion Pathogenic 1032944 GRCh37: 2:69397406-69397406
GRCh38: 2:69170274-69170274
4 ANTXR1 NM_032208.2(ANTXR1):c.1221dup (p.Ala408fs) Duplication Likely pathogenic 224851 rs869312895 GRCh37: 2:69409659-69409660
GRCh38: 2:69182527-69182528
5 ANTXR1 NM_032208.2(ANTXR1):c.411A>G (p.Gln137=) SNV Likely pathogenic 224852 rs869312896 GRCh37: 2:69298918-69298918
GRCh38: 2:69071786-69071786
6 ANTXR1 NM_032208.2(ANTXR1):c.1150G>A (p.Gly384Ser) SNV Likely pathogenic 224853 rs869312897 GRCh37: 2:69408978-69408978
GRCh38: 2:69181846-69181846
7 ANTXR1 NM_018153.3(ANTXR1):c.505C>T (p.Arg169Ter) SNV Likely pathogenic 50906 rs397514700 GRCh37: 2:69302734-69302734
GRCh38: 2:69075602-69075602
8 ANTXR1 NM_032208.3(ANTXR1):c.1105G>A (p.Gly369Ser) SNV Uncertain significance 1032945 GRCh37: 2:69408933-69408933
GRCh38: 2:69181801-69181801
9 ANTXR1 NM_032208.3(ANTXR1):c.80G>T (p.Gly27Val) SNV Uncertain significance 931360 GRCh37: 2:69240711-69240711
GRCh38: 2:69013579-69013579

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
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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