MCID: TTR007
MIFTS: 10

Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities

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 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities:
Inheritance autosomal recessive inheritance


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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 constipation 31 HP:0002019
3 umbilical hernia 31 HP:0001537
4 cryptorchidism 31 HP:0000028
5 abnormality of metabolism/homeostasis 31 HP:0001939
6 sacral dimple 31 HP:0000960
7 high, narrow palate 31 HP:0002705
8 wide mouth 31 HP:0000154
9 upslanted palpebral fissure 31 HP:0000582
10 downturned corners of mouth 31 HP:0002714
11 preauricular pit 31 HP:0004467
12 hypotrichosis 31 HP:0001006
13 bulbous nose 31 HP:0000414
14 absent lacrimal punctum 31 HP:0001092
15 ectodermal dysplasia 31 HP:0000968
16 tetraamelia 31 HP:0003057
17 hypoplastic lacrimal duct 31 HP:0007900

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
constipation

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Head And Neck Nose:
bulbous nose

Neurologic Central Nervous System:
mental retardation

Skeletal Limbs:
tetramelia

Abdomen External Features:
umbilical hernia

Skin Nails Hair Skin:
sacral dimple

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) 56
7534355 1994
2
Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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