MCID: GNV002
MIFTS: 12

Genu Valgum, St. Helena Familial

Categories: Genetic diseases, Rare diseases
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Aliases & Classifications for Genu Valgum, St. Helena Familial

MalaCards integrated aliases for Genu Valgum, St. Helena Familial:

Name: Genu Valgum, St. Helena Familial 57
Genu Valgum, Hereditary Pubertal 57 19
Genu Valgum, St Helena Familial 19 71
St. Helena Familial Genu Valgum 19 75
Severe 'knock-Knees' and Variable Lesser Malalignment at the Elbows and Wrists 19
Hereditary Pubertal Genu Valgum 19

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
male-limited trait


Classifications:



External Ids:

OMIM® 57 137370
MedGen 40 C1842052
SNOMED-CT via HPO 69 299330008
UMLS 71 C1842052

Summaries for Genu Valgum, St. Helena Familial

MalaCards based summary: Genu Valgum, St. Helena Familial, is also known as genu valgum, hereditary pubertal. Related phenotype is genu valgum.

Wikipedia: 75 St. Helena familial genu valgum is a very rare genetic disorder which is characterized by post-puberty... more...

More information from OMIM: 137370

Related Diseases for Genu Valgum, St. Helena Familial

Symptoms & Phenotypes for Genu Valgum, St. Helena Familial

Human phenotypes related to Genu Valgum, St. Helena Familial:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 30 HP:0002857

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skeletal Limbs:
genu valgum
malaligned elbows and wrists
hypoplasia of bony condyles of knees
degenerative osteoarthropathy, progressive

Clinical features from OMIM®:

137370 (Updated 24-Oct-2022)

Drugs & Therapeutics for Genu Valgum, St. Helena Familial

Search Clinical Trials, NIH Clinical Center for Genu Valgum, St. Helena Familial

Genetic Tests for Genu Valgum, St. Helena Familial

Anatomical Context for Genu Valgum, St. Helena Familial

Publications for Genu Valgum, St. Helena Familial

Articles related to Genu Valgum, St. Helena Familial:

# Title Authors PMID Year
1
Hereditary pubertal genu valgum in Iran. 62 57
8062437 1994
2
St. Helena familial genu valgum. 62 57
3791678 1986

Variations for Genu Valgum, St. Helena Familial

Expression for Genu Valgum, St. Helena Familial

Search GEO for disease gene expression data for Genu Valgum, St. Helena Familial.

Pathways for Genu Valgum, St. Helena Familial

GO Terms for Genu Valgum, St. Helena Familial

Sources for Genu Valgum, St. Helena Familial

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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