MCID: ART135
MIFTS: 15

Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Categories: Genetic diseases

Aliases & Classifications for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

MalaCards integrated aliases for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy:

Name: Arthrogryposis, Perthes Disease, and Upward Gaze Palsy 57 75 29 6 73
Apug 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one family with 3 affected girls has been reported (as of october 2011)


HPO:

32
arthrogryposis, perthes disease, and upward gaze palsy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

UniProtKB/Swiss-Prot : 75 Arthrogryposis, Perthes disease, and upward gaze palsy: An autosomal recessive, syndromic form of arthrogryposis, a disease characterized by persistent joints flexure or contracture. APUG patients manifest an unusual combination of arthrogryposis, upward gaze palsy, and avascular necrosis of the hip (Perthes disease).

MalaCards based summary : Arthrogryposis, Perthes Disease, and Upward Gaze Palsy, is also known as apug. An important gene associated with Arthrogryposis, Perthes Disease, and Upward Gaze Palsy is NEK9 (NIMA Related Kinase 9). Related phenotypes are full cheeks and atopic dermatitis

Description from OMIM: 614262

Related Diseases for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Symptoms & Phenotypes for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
full cheeks

Abdomen Gastrointestinal:
pyloric stenosis

Skeletal Hands:
camptodactyly
trigger deformity of the fingers

Respiratory Airways:
bronchial asthma

Head And Neck Eyes:
upward gaze palsy

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
pulmonic stenosis

Skin Nails Hair Skin:
atopic dermatitis

Skeletal:
arthrogryposis
joint contractures of the hips, knees, hands, and elbows

Skeletal Feet:
overriding toes

Skeletal Pelvis:
avascular necrosis of the femoral head


Clinical features from OMIM:

614262

Human phenotypes related to Arthrogryposis, Perthes Disease, and Upward Gaze Palsy:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 full cheeks 32 HP:0000293
2 atopic dermatitis 32 HP:0001047
3 ventricular septal defect 32 HP:0001629
4 atrial septal defect 32 HP:0001631
5 pulmonic stenosis 32 HP:0001642
6 overlapping toe 32 HP:0001845
7 pyloric stenosis 32 HP:0002021
8 asthma 32 HP:0002099
9 arthrogryposis multiplex congenita 32 HP:0002804
10 camptodactyly 32 HP:0012385

Drugs & Therapeutics for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Genetic Tests for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Genetic tests related to Arthrogryposis, Perthes Disease, and Upward Gaze Palsy:

# Genetic test Affiliating Genes
1 Arthrogryposis, Perthes Disease, and Upward Gaze Palsy 29 NEK9

Anatomical Context for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Publications for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Variations for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy:

75
# Symbol AA change Variation ID SNP ID
1 NEK9 p.Arg681His VAR_077803 rs142859694

ClinVar genetic disease variations for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK9 NM_033116.5(NEK9): c.2042G> A (p.Arg681His) single nucleotide variant Pathogenic rs142859694 GRCh38 Chromosome 14, 75097231: 75097231
2 NEK9 NM_033116.5(NEK9): c.2042G> A (p.Arg681His) single nucleotide variant Pathogenic rs142859694 GRCh37 Chromosome 14, 75563934: 75563934

Expression for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Search GEO for disease gene expression data for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy.

Pathways for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

GO Terms for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

Sources for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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