PAPPAS
MCID: AML066
MIFTS: 36

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory 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 57 73
Amelia, Autosomal Recessive 57 6
Pappas 57 73
Autosomal Recessive Amelia 58
Ectromelia 44

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®:

57 (Updated 05-Mar-2021)
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® 57 601360
MeSH 44 D004480
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® : 57 Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent lower limbs, 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) (Updated 05-Mar-2021)

MalaCards based summary : Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome, also known as amelia, autosomal recessive, is related to smallpox and tetraamelia syndrome. An important gene associated with Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome is TBX4 (T-Box Transcription Factor 4), and among its related pathways/superpathways is Toll-Like receptor Signaling Pathways. Affiliated tissues include heart, lung and kidney, and related phenotypes are full cheeks and cryptorchidism

UniProtKB/Swiss-Prot : 73 Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome: An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia.

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 top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 smallpox 30.3 IL18BP IL18
2 tetraamelia syndrome 11.3
3 o donnell pappas syndrome 11.2
4 foveal hypoplasia 1 11.1
5 vaccinia 10.7
6 variola major 10.5
7 cowpox 10.5
8 monkeypox 10.3
9 synostosis 10.2
10 fibroma 10.1
11 lymphocytic choriomeningitis 10.1
12 meningitis 10.1
13 cytokine deficiency 10.1
14 humero-ulnar synostosis 10.1
15 exanthem 10.0
16 newcastle disease 10.0
17 mast cell neoplasm 10.0
18 extracutaneous mastocytoma 10.0
19 herpes simplex 10.0
20 molluscum contagiosum 10.0
21 viral infectious disease 10.0
22 body mass index quantitative trait locus 11 9.9
23 body mass index quantitative trait locus 9 9.9
24 body mass index quantitative trait locus 8 9.9
25 body mass index quantitative trait locus 4 9.9
26 body mass index quantitative trait locus 10 9.9
27 body mass index quantitative trait locus 7 9.9
28 body mass index quantitative trait locus 12 9.9
29 body mass index quantitative trait locus 14 9.9
30 body mass index quantitative trait locus 18 9.9
31 body mass index quantitative trait locus 19 9.9
32 deficiency anemia 9.9
33 heart disease 9.9
34 kidney disease 9.9
35 chronic kidney disease 9.9
36 osteoarthritis 9.9
37 influenza 9.9
38 arthritis 9.9
39 congenital femoral deficiency 9.9
40 avascular necrosis 9.9
41 coloboma of macula 9.8
42 holt-oram syndrome 9.8
43 pectus excavatum 9.8
44 split-hand/foot malformation 1 9.8
45 proteasome-associated autoinflammatory syndrome 1 9.8
46 pulmonary hypoplasia, primary 9.8
47 epidemic typhus 9.8
48 scoliosis 9.8
49 omphalocele 9.8
50 bacterial infectious disease 9.8

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 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
5 abnormal cardiac septum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001671
6 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
7 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
8 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
9 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
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®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
retrognathia
malar hypoplasia
tall forehead

Cardiovascular Heart:
hypoplastic left heart

Genitourinary:
ambiguous genitalia

Head And Neck Nose:
broad nose
hypoplastic alae nasi

Prenatal Manifestations Movement:
reduced fetal movements

Respiratory Lung:
lung hypoplasia, severe
pulmonary segmentation defect

Skeletal Limbs:
absent lower limbs

Prenatal Manifestations Delivery:
stillbirth (in some patients)

Head And Neck Ears:
low-set ears
atresia of the external auditory canal

Abdomen Gastrointestinal:
anal atresia
anteriorly placed anus
rectoperineal fistula

Skeletal Pelvis:
hypoplastic sacrum
absent pelvic bones

Genitourinary Kidneys:
enlarged kidneys
bilateral hydroureteronephrosis
dilation of calyces

Cardiovascular Vascular:
hypoplastic aorta

Genitourinary Ureters:
distended tortuous ureters

Muscle Soft Tissue:
muscular hypoplasia of upper limbs

Clinical features from OMIM®:

601360 (Updated 05-Mar-2021)

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 School Randomized Factorial Trial for Nudging Students Towards Healthy Diet and Physical Activity to Prevent Obesity: a Study Protocol Unknown status NCT03128775
2 Design of a School Randomized Trial for Nudging Students Towards Healthy Diet and Physical Activity Completed NCT03136016

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

Cochrane evidence based reviews: ectromelia

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
Heart, Lung, Kidney, Bone

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 92)
# Title Authors PMID Year
1
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. 61 6 57
31761294 2019
2
A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4. 6 57
31965066 2020
3
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. 57
22002956 2011
4
New autosomal recessive form of amelia. 57
7625439 1995
5
Physical Performance Measures of Flexibility, Hip Strength, Lower Limb Power, and Trunk Endurance in Healthy Navy Cadets: Normative Data and Differences Between Sex and Limb Dominance. 61
29351158 2021
6
Pappas et al.: Cost-Effectiveness of Bridging Anticoagulation. 61
33089407 2021
7
[Global prevalence of human brucellosis]. 61
33297632 2020
8
Fatigue fracture of the femoral component in total knee replacement. 61
33010759 2020
9
Co-delivery of terbinafine hydrochloride and urea with an in situ film-forming system for nail targeting treatment. 61
32504773 2020
10
First Report of Anthracnose on Ctenanthe oppenheimiana Caused by Colletotrichum siamense in China. 61
32720882 2020
11
Treatment of Childhood Obesity Based on Brazilian Dietary Guidelines Plus Energy Restriction (PAPPAS HUPE Study): Protocol for a Randomized Clinical Trial. 61
32502969 2020
12
Takedown of Painful Ankle Arthrodesis to Total Ankle Arthroplasty: A Case Series of 77 Patients. 61
32063484 2020
13
Simulated Aeromedical Evacuation in a Polytrauma Rat Model. 61
31747998 2019
14
Knee and Hip Isometric Force Steadiness Are Impaired in Women With Patellofemoral Pain. 61
31343549 2019
15
Long-term Follow-up Results of Buechel-Pappas Ankle Arthroplasty. 61
30700155 2019
16
Development of Paroxetine Hydrochloride Single Layer Controlled-Release Tablets Based on 3² Factorial Design. 61
30463329 2018
17
Progressive Workload Periodization Maximizes Effects of Nordic Hamstring Exercise on Muscle Injury Risk Factors. 61
30363038 2018
18
A cell autonomous torsinA requirement for cholinergic neuron survival and motor control. 61
30117805 2018
19
Proteomic Analyses on an Ancient Egyptian Cheese and Biomolecular Evidence of Brucellosis. 61
30044608 2018
20
Preparation of Tea Tree Oil/Poly(styrene-butyl methacrylate) Microspheres with Sustained Release and Anti-Bacterial Properties. 61
29723967 2018
21
Takedown of Ankle Arthrodesis With Insufficient Fibula: Surgical Technique and Intermediate-Term Follow-Up. 61
29146221 2018
22
January 2018 Corrigendum. 61
29291279 2018
23
Do silhouettes and photographs produce fundamentally different object-based correspondence effects? 61
28865287 2017
24
The AES total ankle arthroplasty analysis of failures and survivorship at ten years. 61
28871360 2017
25
Acute Effects of Stretching on Leg and Vertical Stiffness During Treadmill Running. 61
28118306 2017
26
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
27
Niosome-based hydrogel of resveratrol for topical applications: An effective therapy for pain related disorder(s). 61
28126673 2017
28
Layered nanohydroxyapatite as a novel nanocarrier for controlled delivery of 5-fluorouracil. 61
27596116 2016
29
Total knee replacement arthroplasty with Buechel and Pappas knee: minimum 2-year follow-up. 61
25729520 2015
30
Long-term follow-up of mobile bearing total ankle arthroplasty in the United States. 61
25201330 2015
31
Corrigendum. 61
25596190 2015
32
Performance of total ankle arthroplasty and ankle arthrodesis on uneven surfaces, stairs, and inclines: a prospective study. 61
25201334 2015
33
Formulation development of intermediate release Nimesulide tablets by CCRD for IVIVC studies. 61
25015441 2014
34
[Esthetic and functional improvement in proximal femoral focal deficiency with lacking hip joint by rotation plasty Winkelmann type BIII]. 61
24658883 2014
35
In vitro evaluation of transdermal patches of flurbiprofen with ethyl cellulose. 61
25272649 2014
36
Forward to AIDS 2014: Now is the Time to Unite for the Global HIV/AIDS Epidemic. 61
27621974 2014
37
Long-term follow-up of mobile-bearing total ankle replacement in patients with inflammatory joint disease. 61
24293596 2013
38
In situ Gel of Metoprolol Tartrate: Physicochemical Characterization, In vitro Diffusion and Histological Studies. 61
23798784 2012
39
Interview with Dr. Omar Khan, noted global health specialist. 61
22461688 2012
40
Intermediate to long-term outcomes of the STAR Total Ankle Replacement: the patient perspective. 61
22218381 2012
41
Cruciate ligaments in proximal femoral focal deficiency: arthroscopic assessment. 61
22173383 2012
42
Recurrence of axial malalignment after surgical correction in congenital femoral deficiency and fibular hemimelia. 61
21537976 2011
43
A neurochemical basis for an epigenetic vision of psychiatric disorders (1994-2009). 61
21699980 2011
44
Negative enrichment of target cells by microfluidic affinity chromatography. 61
21939198 2011
45
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
46
Revision rates after total ankle arthroplasty in sample-based clinical studies and national registries. 61
22049859 2011
47
Do happy faces capture attention? The happiness superiority effect in attentional blink. 61
21038954 2010
48
Medium term follow-up of the AES ankle prosthesis: High rate of asymptomatic osteolysis. 61
20483134 2010
49
How successful are current ankle replacements?: a systematic review of the literature. 61
19618248 2010
50
Clinical evaluation and radiographic assessment of bone lysis of the AES total ankle replacement. 61
19796590 2009

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 rs1603251001 17:59543237-59543237 17:61465876-61465876
2 TBX4 NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) SNV Pathogenic 638159 rs1603251494 17:59544871-59544871 17:61467510-61467510

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

Pathways related to Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 IL18BP IL18

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

Biological processes related to Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.16 TBX4 IL18
2 T-helper 1 type immune response GO:0042088 8.96 IL18BP IL18
3 interleukin-18-mediated signaling pathway GO:0035655 8.62 IL18BP IL18

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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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