PAPPAS
MCID: AML066
MIFTS: 31

Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome (PAPPAS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

MalaCards integrated aliases for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome:

Name: Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 56
Amelia, Autosomal Recessive 56 6
Autosomal Recessive Amelia 58
Pappas 56

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive amelia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based primarily on postmortem examination of 1 fetus
heterozygous carrier parents have ischiocoxopodopatellar syndrome (icpps, )


HPO:

31
amelia, posterior, with pelvic and pulmonary hypoplasia syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601360
ICD10 via Orphanet 33 Q73.0
UMLS via Orphanet 72 C1832432
Orphanet 58 ORPHA1027
MedGen 41 C1832432

Summaries for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

OMIM : 56 Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent hindlimbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect. Ambiguous genitalia have also been observed (Kariminejad et al., 2019). Heterozygous mutation in the TBX4 gene causes ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; 147891). (601360)

MalaCards based summary : Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome, also known as amelia, autosomal recessive, is related to o donnell pappas syndrome and tetra-amelia syndrome. An important gene associated with Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome is TBX4 (T-Box Transcription Factor 4). The drugs Caspofungin and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and kidney, and related phenotypes are cryptorchidism and micrognathia

Related Diseases for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Diseases related to Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 o donnell pappas syndrome 12.3
2 tetra-amelia syndrome 11.5
3 foveal hypoplasia 1 11.4
4 phlebotomus fever 11.3
5 pre-eclampsia 10.4
6 chromophobe renal cell carcinoma 10.3
7 renal oncocytoma 10.3
8 cornelia de lange syndrome 1 10.1
9 heart disease 10.1
10 cornelia de lange syndrome 10.1
11 amenorrhea 10.1
12 disease of mental health 10.1
13 kidney disease 10.1
14 chronic kidney disease 10.1
15 osteoarthritis 10.1
16 arthritis 10.1
17 congenital femoral deficiency 10.1
18 avascular necrosis 10.1

Graphical network of the top 20 diseases related to Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome:



Diseases related to Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Symptoms & Phenotypes for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Human phenotypes related to Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
4 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
5 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
6 abnormal cardiac septum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001671
7 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
8 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
9 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
10 amelia involving the upper limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0009812
11 acromelia of the lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0010494
12 amelia 58 31 Very frequent (99-80%) HP:0009827
13 oral cleft 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
anal atresia
rectoperineal fistula

Head And Neck Ears:
atresia of the external auditory canal

Prenatal Manifestations Movement:
reduced fetal movements

Skeletal Limbs:
absent lower limbs

Prenatal Manifestations Delivery:
stillbirth (in some patients)

Genitourinary:
ambiguous genitalia

Skeletal Pelvis:
hypoplastic sacrum
absent pelvic bones

Respiratory Lung:
lung hypoplasia, severe
pulmonary segmentation defect

Muscle Soft Tissue:
muscular hypoplasia of upper limbs

Clinical features from OMIM:

601360

Drugs & Therapeutics for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Drugs for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Caspofungin Approved Phase 4 162808-62-0, 179463-17-3 468682 2826718
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
4 Antifungal Agents Phase 4
5 Echinocandins Phase 4
6 Anti-Infective Agents Phase 4
7 English Lavender Phase 3
8
Zinc Approved, Investigational 7440-66-6 32051
9 insulin
10 Hypoglycemic Agents
11 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Candida Eradication and Serum Cidal Activity of Echinocandins in Patients With Presumptive Candidemia Completed NCT00839540 Phase 4 micafungin;Micafungin;Caspofungin
2 Effects of Lavender Oil on Postoperative Pain, Sleep Quality and Mood Recruiting NCT03093454 Phase 3 Lavender Essential Oil
3 School Randomized Factorial Trial for Nudging Students Towards Healthy Diet and Physical Activity to Prevent Obesity: a Study Protocol Unknown status NCT03128775
4 Design of a School Randomized Trial for Nudging Students Towards Healthy Diet and Physical Activity Completed NCT03136016
5 Evaluation of Continuous Blood Glucose Monitoring Method for Detection of Alterations in Glucose Homeostasis in Beta Thalassemia Patients Completed NCT03591900

Search NIH Clinical Center for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Genetic Tests for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Anatomical Context for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

MalaCards organs/tissues related to Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome:

40
Bone, Lung, Kidney, Heart

Publications for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Articles related to Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. 61 56 6
31761294 2019
2
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. 56
22002956 2011
3
New autosomal recessive form of amelia. 56
7625439 1995
4
Simulated Aeromedical Evacuation in a Polytrauma Rat Model. 61
31747998 2019
5
Knee and Hip Isometric Force Steadiness Are Impaired in Women With Patellofemoral Pain. 61
31343549 2019
6
Long-term Follow-up Results of Buechel-Pappas Ankle Arthroplasty. 61
30700155 2019
7
Development of Paroxetine Hydrochloride Single Layer Controlled-Release Tablets Based on 3² Factorial Design. 61
30463329 2018
8
Progressive Workload Periodization Maximizes Effects of Nordic Hamstring Exercise on Muscle Injury Risk Factors. 61
30363038 2018
9
A cell autonomous torsinA requirement for cholinergic neuron survival and motor control. 61
30117805 2018
10
Proteomic Analyses on an Ancient Egyptian Cheese and Biomolecular Evidence of Brucellosis. 61
30044608 2018
11
Preparation of Tea Tree Oil/Poly(styrene-butyl methacrylate) Microspheres with Sustained Release and Anti-Bacterial Properties. 61
29723967 2018
12
Takedown of Ankle Arthrodesis With Insufficient Fibula: Surgical Technique and Intermediate-Term Follow-Up. 61
29146221 2018
13
January 2018 Corrigendum. 61
29291279 2018
14
Acute Effects of Stretching on Leg and Vertical Stiffness During Treadmill Running. 61
28118306 2017
15
Do silhouettes and photographs produce fundamentally different object-based correspondence effects? 61
28865287 2017
16
The AES total ankle arthroplasty analysis of failures and survivorship at ten years. 61
28871360 2017
17
Adding a post-training FIFA 11+ exercise program to the pre-training FIFA 11+ injury prevention program reduces injury rates among male amateur soccer players: a cluster-randomised trial. 61
28939307 2017
18
Niosome-based hydrogel of resveratrol for topical applications: An effective therapy for pain related disorder(s). 61
28126673 2017
19
Layered nanohydroxyapatite as a novel nanocarrier for controlled delivery of 5-fluorouracil. 61
27596116 2016
20
Total knee replacement arthroplasty with Buechel and Pappas knee: minimum 2-year follow-up. 61
25729520 2015
21
Corrigendum. 61
25596190 2015
22
Long-term follow-up of mobile bearing total ankle arthroplasty in the United States. 61
25201330 2015
23
Performance of total ankle arthroplasty and ankle arthrodesis on uneven surfaces, stairs, and inclines: a prospective study. 61
25201334 2015
24
Formulation development of intermediate release Nimesulide tablets by CCRD for IVIVC studies. 61
25015441 2014
25
[Esthetic and functional improvement in proximal femoral focal deficiency with lacking hip joint by rotation plasty Winkelmann type BIII]. 61
24658883 2014
26
In vitro evaluation of transdermal patches of flurbiprofen with ethyl cellulose. 61
25272649 2014
27
Forward to AIDS 2014: Now is the Time to Unite for the Global HIV/AIDS Epidemic. 61
27621974 2014
28
Long-term follow-up of mobile-bearing total ankle replacement in patients with inflammatory joint disease. 61
24293596 2013
29
In situ Gel of Metoprolol Tartrate: Physicochemical Characterization, In vitro Diffusion and Histological Studies. 61
23798784 2012
30
Interview with Dr. Omar Khan, noted global health specialist. 61
22461688 2012
31
Intermediate to long-term outcomes of the STAR Total Ankle Replacement: the patient perspective. 61
22218381 2012
32
Cruciate ligaments in proximal femoral focal deficiency: arthroscopic assessment. 61
22173383 2012
33
Recurrence of axial malalignment after surgical correction in congenital femoral deficiency and fibular hemimelia. 61
21537976 2011
34
Negative enrichment of target cells by microfluidic affinity chromatography. 61
21939198 2011
35
A neurochemical basis for an epigenetic vision of psychiatric disorders (1994-2009). 61
21699980 2011
36
Comment to: Novel Influenza A (H1N1) infection vs. common influenza-like illness: a prospective study; Voudoukis E, Pappas A, Panoutsopoulos A, Xynos K, Rozi F, Giannakopoulou K, Paulaki M, Stofa E, Seretis C, Lagoudianakis E, Andrianopoulos G; Med Sci Monit, 2011; 17(4): CR185-188. 61
21959620 2011
37
Revision rates after total ankle arthroplasty in sample-based clinical studies and national registries. 61
22049859 2011
38
Do happy faces capture attention? The happiness superiority effect in attentional blink. 61
21038954 2010
39
Medium term follow-up of the AES ankle prosthesis: High rate of asymptomatic osteolysis. 61
20483134 2010
40
How successful are current ankle replacements?: a systematic review of the literature. 61
19618248 2010
41
Clinical evaluation and radiographic assessment of bone lysis of the AES total ankle replacement. 61
19796590 2009
42
Total ankle prostheses in rheumatoid arthropathy: Outcome in 52 patients followed for 1-9 years. 61
19634020 2009
43
Computed tomographic angiography in proximal femoral focal deficiency. 61
19651955 2009
44
"Ring leg deformity" in Bartsocas-Pappas syndrome. 61
19233322 2009
45
Prospective controlled trial of STAR total ankle replacement versus ankle fusion: initial results. 61
19589303 2009
46
A randomised, controlled trial of two mobile-bearing total ankle replacements. 61
19092007 2009
47
Evolution of the Buechel-Pappas mobile-bearing total ankle replacement. 61
19825742 2008
48
Medial impingement after ankle replacement. 61
17206417 2008
49
Recombinant human Epo treatment: beneficial in chronic kidney disease, chronic heart failure, or both? Editorial to: "Correction of anemia with erythropoietin in chronic kidney disease (stage 3 or 4): effects on cardiac performance by Pappas et al.". 61
18219567 2008
50
Total ankle arthroplasty. 61
18399599 2008

Variations for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

ClinVar genetic disease variations for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX4 NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)SNV Pathogenic 805945 17:59543237-59543237 17:61465876-61465876

Expression for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Search GEO for disease gene expression data for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome.

Pathways for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

GO Terms for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

Sources for Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome

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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