MCID: TTR007
MIFTS: 11

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 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities:
Inheritance autosomal recessive inheritance


Classifications:



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

Description 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:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 constipation 33 HP:0002019
3 umbilical hernia 33 HP:0001537
4 abnormality of metabolism/homeostasis 33 HP:0001939
5 cryptorchidism 33 HP:0000028
6 high, narrow palate 33 HP:0002705
7 wide mouth 33 HP:0000154
8 upslanted palpebral fissure 33 HP:0000582
9 hypotrichosis 33 HP:0001006
10 downturned corners of mouth 33 HP:0002714
11 bulbous nose 33 HP:0000414
12 sacral dimple 33 HP:0000960
13 preauricular pit 33 HP:0004467
14 ectodermal dysplasia 33 HP:0000968
15 absent lacrimal punctum 33 HP:0001092
16 tetraamelia 33 HP:0003057
17 hypoplastic lacrimal duct 33 HP:0007900

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
constipation

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
hypotrichosis

Skin Nails Hair Skin:
sacral dimple

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

Head And Neck Nose:
bulbous nose

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...

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
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
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