MCID: TTR007
MIFTS: 10

Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities

Categories: Rare diseases

Aliases & Classifications for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

MalaCards integrated aliases for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities:

Name: Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 273390
MedGen 42 C2931214

Summaries for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

MalaCards based summary : Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities Related phenotypes are intellectual disability and constipation

More information from OMIM: 273390

Related Diseases for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Symptoms & Phenotypes for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Human phenotypes related to Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 constipation 32 HP:0002019
3 umbilical hernia 32 HP:0001537
4 abnormality of metabolism/homeostasis 32 HP:0001939
5 sacral dimple 32 HP:0000960
6 high, narrow palate 32 HP:0002705
7 cryptorchidism 32 HP:0000028
8 wide mouth 32 HP:0000154
9 upslanted palpebral fissure 32 HP:0000582
10 hypotrichosis 32 HP:0001006
11 downturned corners of mouth 32 HP:0002714
12 bulbous nose 32 HP:0000414
13 preauricular pit 32 HP:0004467
14 absent lacrimal punctum 32 HP:0001092
15 ectodermal dysplasia 32 HP:0000968
16 tetraamelia 32 HP:0003057
17 hypoplastic lacrimal duct 32 HP:0007900

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
constipation

Skin Nails Hair Skin:
sacral dimple

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
bulbous nose

Neurologic Central Nervous System:
mental retardation

Skeletal Limbs:
tetramelia

Abdomen External Features:
umbilical hernia

Head And Neck Mouth:
high, narrow palate
large mouth
downturned mouth

Skin Nails Hair Hair:
hypotrichosis

Head And Neck Eyes:
hypoplastic lacrimal duct
upslanting palpebral fissures
absent lacrimal openings

Head And Neck Ears:
preauricular pits

Metabolic Features:
susceptible to hyperthermia

Clinical features from OMIM:

273390

Drugs & Therapeutics for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Search Clinical Trials , NIH Clinical Center for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities

Genetic Tests for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Anatomical Context for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Publications for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Articles related to Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities:

# Title Authors PMID Year
1
Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390) 8
7534355 1994
2
Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation. 8
3681906 1987

Variations for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Expression for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Search GEO for disease gene expression data for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities.

Pathways for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

GO Terms for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

Sources for Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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