APUG
MCID: ART135
MIFTS: 21

Arthrogryposis, Perthes Disease, and Upward Gaze Palsy (APUG)

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 72 29 6 70
Apug 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
arthrogryposis, perthes disease, and upward gaze palsy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

UniProtKB/Swiss-Prot : 72 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, also known as apug, is related to legg-calve-perthes disease and pyloric stenosis. An important gene associated with Arthrogryposis, Perthes Disease, and Upward Gaze Palsy is NEK9 (NIMA Related Kinase 9). Related phenotypes are full cheeks and atrial septal defect

More information from OMIM: 614262

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

Diseases related to Arthrogryposis, Perthes Disease, and Upward Gaze Palsy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 legg-calve-perthes disease 10.4
2 pyloric stenosis 10.4
3 congenital amyoplasia 10.4

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 full cheeks 31 HP:0000293
2 atrial septal defect 31 HP:0001631
3 ventricular septal defect 31 HP:0001629
4 asthma 31 HP:0002099
5 pulmonic stenosis 31 HP:0001642
6 pyloric stenosis 31 HP:0002021
7 arthrogryposis multiplex congenita 31 HP:0002804
8 camptodactyly 31 HP:0012385
9 overlapping toe 31 HP:0001845
10 atopic dermatitis 31 HP:0001047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
full cheeks

Abdomen Gastrointestinal:
pyloric stenosis

Skin Nails Hair Skin:
atopic dermatitis

Respiratory Airways:
bronchial asthma

Head And Neck Eyes:
upward gaze palsy

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
pulmonic stenosis

Skeletal Hands:
camptodactyly
trigger deformity of the fingers

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 (Updated 05-Apr-2021)

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

Articles related to Arthrogryposis, Perthes Disease, and Upward Gaze Palsy:

# Title Authors PMID Year
1
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. 57 6
26633546 2016
2
Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis. 57 61
21271645 2011
3
[Adaptation to climate change-associated health risks as a task of environmental health protection. Analysis of a nationwide investigation by the Federal Environment Agency]. 61
25227958 2014

Variations for Arthrogryposis, Perthes Disease, and Upward Gaze Palsy

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEK9 NM_033116.6(NEK9):c.2335C>T (p.Arg779Ter) SNV Pathogenic 1031551 GRCh37: 14:75558080-75558080
GRCh38: 14:75091377-75091377
2 NEK9 NM_033116.6(NEK9):c.1450C>T (p.Gln484Ter) SNV Pathogenic 1034191 GRCh37: 14:75573283-75573283
GRCh38: 14:75106580-75106580
3 NEK9 NM_033116.6(NEK9):c.2042G>A (p.Arg681His) SNV Pathogenic 242930 rs142859694 GRCh37: 14:75563934-75563934
GRCh38: 14:75097231-75097231
4 NEK9 NM_033116.6(NEK9):c.1327+1G>T SNV Likely pathogenic 1031033 GRCh37: 14:75574045-75574045
GRCh38: 14:75107342-75107342
5 NEK9 NM_033116.6(NEK9):c.2232T>C (p.Thr744=) SNV Uncertain significance 712149 rs61746426 GRCh37: 14:75562076-75562076
GRCh38: 14:75095373-75095373
6 NEK9 NM_033116.6(NEK9):c.762+10C>T SNV Uncertain significance 1031552 GRCh37: 14:75583888-75583888
GRCh38: 14:75117185-75117185

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

72
# Symbol AA change Variation ID SNP ID
1 NEK9 p.Arg681His VAR_077803 rs142859694

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....