MCID: THN012
MIFTS: 11

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 56
Neonatally Lethal Short-Limb Skeletal Dysplasia, Glasgow Type 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
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. Affiliated tissues include bone, and related phenotypes are cataract and abnormality of metabolism/homeostasis

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 anemia 31 HP:0001903
4 micromelia 31 HP:0002983
5 hepatosplenomegaly 31 HP:0001433

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Thanatophoric Dysplasia, Glasgow Variant:

40
Bone

Publications for Thanatophoric Dysplasia, Glasgow Variant

Articles related to Thanatophoric Dysplasia, Glasgow Variant:

# Title Authors PMID Year
1
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 56
7773297 1995
2
Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant. 56
3901754 1985

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
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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