MCID: THN012
MIFTS: 10

Thanatophoric Dysplasia, Glasgow Variant

Categories: Bone diseases

Aliases & Classifications for Thanatophoric Dysplasia, Glasgow Variant

MalaCards integrated aliases for Thanatophoric Dysplasia, Glasgow Variant:

Name: Thanatophoric Dysplasia, Glasgow Variant 58
Neonatally Lethal Short-Limb Skeletal Dysplasia, Glasgow Type 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
thanatophoric dysplasia, glasgow variant:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thanatophoric Dysplasia, Glasgow Variant

MalaCards based summary : Thanatophoric Dysplasia, Glasgow Variant, is also known as neonatally lethal short-limb skeletal dysplasia, glasgow type. Related phenotypes are cataract and abnormality of metabolism/homeostasis

Description from OMIM: 273680

Related Diseases for Thanatophoric Dysplasia, Glasgow Variant

Symptoms & Phenotypes for Thanatophoric Dysplasia, Glasgow Variant

Human phenotypes related to Thanatophoric Dysplasia, Glasgow Variant:

33
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 anemia 33 HP:0001903
4 micromelia 33 HP:0002983
5 hepatosplenomegaly 33 HP:0001433

Symptoms via clinical synopsis from OMIM:

58
Heme:
anemia

G I:
hepatosplenomegaly

Eyes:
cataracts

Lab:
growth plate generally disrupted with inadequate columns and fibrous bands

Limbs:
micromelia
curved femora
curved humeri

Misc:
neonatal death

Skel:
thanatophoric dysplasia
hypoplasia of iliac, pubic, and ischial bones

Clinical features from OMIM:

273680

Drugs & Therapeutics for Thanatophoric Dysplasia, Glasgow Variant

Search Clinical Trials , NIH Clinical Center for Thanatophoric Dysplasia, Glasgow Variant

Genetic Tests for Thanatophoric Dysplasia, Glasgow Variant

Anatomical Context for Thanatophoric Dysplasia, Glasgow Variant

Publications for Thanatophoric Dysplasia, Glasgow Variant

Variations for Thanatophoric Dysplasia, Glasgow Variant

Expression for Thanatophoric Dysplasia, Glasgow Variant

Search GEO for disease gene expression data for Thanatophoric Dysplasia, Glasgow Variant.

Pathways for Thanatophoric Dysplasia, Glasgow Variant

GO Terms for Thanatophoric Dysplasia, Glasgow Variant

Sources for Thanatophoric Dysplasia, Glasgow Variant

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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