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 57 53
Odontotrichomelic Syndrome 57 53 59 29 6
Freire-Maia Odontotrichomelic Syndrome 53 73
Freire-Maia Syndrome 53 59
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 73
Odontotrichomelic Hypohidrotic Dysplasia 53

Characteristics:

Orphanet epidemiological data:

59
odontotrichomelic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 : 53 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 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 and ectodermal dysplasia. An important gene associated with Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities is ANTXR1 (ANTXR Cell Adhesion Molecule 1). Affiliated tissues include bone, skin 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 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.0
2 ectodermal dysplasia 10.0

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 eeg abnormality 32 HP:0002353
3 abnormality of the dentition 32 HP:0000164
4 aminoaciduria 32 HP:0003355
5 arrhythmia 32 HP:0011675
6 abnormality of the pinna 32 HP:0000377
7 hypogonadism 32 HP:0000135
8 small nail 32 HP:0001792
9 hypotrichosis 32 HP:0001006
10 abnormality of the neck 32 HP:0000464
11 nasolacrimal duct obstruction 32 HP:0000579
12 cleft upper lip 32 HP:0000204
13 hypoplastic nipples 32 HP:0002557
14 ectodermal dysplasia 32 HP:0000968
15 hypoplastic areola 32 HP:0100853
16 tetraamelia 32 HP:0003057

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 29 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:

41
Bone, Skin, 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 Year
1
Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity? ( 15103722 )
2004
2
A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome. ( 2764029 )
1989

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...

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