HPPD
MCID: HYP561
MIFTS: 26

Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness (HPPD)

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

MalaCards integrated aliases for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness:

Name: Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 57 13 70
Hppd 57 58
Hypertelorism-Preauricular Sinus-Punctual Pits-Hearing Loss Syndrome 58
Hypertelorism-Preauricular Sinus-Punctual Pits-Deafness Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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


HPO:

31
hypertelorism, preauricular sinus, punctal pits, and deafness:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

MalaCards based summary : Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness, also known as hppd, is related to hawkinsinuria and hypertelorism. An important gene associated with Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness is HPPD (Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness). The drug Altretamine has been mentioned in the context of this disorder. Affiliated tissues include brain and neutrophil, and related phenotypes are nasolacrimal duct obstruction and shawl scrotum

More information from OMIM: 614187

Related Diseases for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Diseases related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hawkinsinuria 11.2
2 hypertelorism 10.5
3 branchiootic syndrome 1 10.5
4 lacrimal duct obstruction 10.5
5 preauricular sinus 10.5
6 tyrosinemia 10.1
7 tyrosinemia, type i 9.9
8 tyrosinemia, type iii 9.9
9 cannabis dependence 9.9

Graphical network of the top 20 diseases related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness:



Diseases related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Symptoms & Phenotypes for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Human phenotypes related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness:

31
# Description HPO Frequency HPO Source Accession
1 nasolacrimal duct obstruction 31 occasional (7.5%) HP:0000579
2 shawl scrotum 31 occasional (7.5%) HP:0000049
3 hearing impairment 31 HP:0000365
4 hypertelorism 31 HP:0000316
5 preauricular pit 31 HP:0004467

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
punctal pits (in some patients)
lacrimal duct obstruction (in some patients)

Genitourinary External Genitalia Male:
shawl scrotum (rare)

Skin Nails Hair Skin:
transverse distal crease across palm
bridge between vertical and transverse proximal palmar flexion creases
vertical crease in fourth interdigital space

Head And Neck Ears:
hearing loss
preauricular sinus, bilateral

Skeletal Hands:
transverse distal crease across palm
bridge between vertical and transverse proximal palmar flexion creases
vertical crease in fourth interdigital space

Clinical features from OMIM®:

614187 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Drugs for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Altretamine Approved 645-05-6 2123

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Exploratory Study on the Development of a Novel Head Protection Prototype Device for Post-decompression Craniectomy Patients Completed NCT04021095

Search NIH Clinical Center for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Genetic Tests for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Anatomical Context for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

MalaCards organs/tissues related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness:

40
Brain, Neutrophil

Publications for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Articles related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness:

(show top 50) (show all 293)
# Title Authors PMID Year
1
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31. 57 61
21480481 2011
2
Fragments recombination, design, synthesis, safener activity and CoMFA model of novel substituted dichloroacetylphenyl sulfonamide derivatives. 61
33236407 2021
3
Biosynthesis of 3-Hydroxy-3-Methylbutyrate from l-Leucine by Whole-Cell Catalysis. 61
33734707 2021
4
The Feasibility of Pop-Dusting Using High-Power Laser (2 J × 50 Hz) in Retrograde Intrarenal Surgery for Renal Stones: Retrospective Single-Center Experience. 61
33081518 2021
5
Discovery of novel benzofuran scaffold as 4-hydroxyphenylpyruvate dioxygenase inhibitors. 61
33128494 2021
6
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation. 61
33728247 2021
7
Cobalt (II) complex as a fluorescent sensing platform for the selective and sensitive detection of triketone HPPD inhibitors. 61
33039827 2021
8
Induction of tocopherol biosynthesis through heat shock treatment in Arabidopsis. 61
33624783 2021
9
Proteomic analysis of a hom-disrupted, cephamycin C overproducing Streptomyces clavuligerus. 61
32707026 2021
10
Repurposing the orphan drug nitisinone to control the transmission of African trypanosomiasis. 61
33497373 2021
11
Structure-Guided Discovery of Silicon-Containing Subnanomolar Inhibitor of Hydroxyphenylpyruvate Dioxygenase as a Potential Herbicide. 61
33395281 2021
12
Effects of the novel HPPD-inhibitor herbicide QYM201 on enzyme activity and microorganisms, and its degradation in soil. 61
33222056 2021
13
Discovery of novel arylthioacetic acid derivatives as 4-hydroxyphenylpyruvate dioxygenase inhibitors. 61
32578327 2020
14
Design, Synthesis, and Herbicidal Activity of N-Benzyl-5-cyclopropyl-isoxazole-4-carboxamides. 61
33301336 2020
15
Identification of key residues determining the binding specificity of human 4-hydroxyphenylpyruvate dioxygenase. 61
32750420 2020
16
Presence of the HPPD Inhibitor Sensitive 1 Gene and ALSS653N Mutation in Weedy Oryza sativa Sensitive to Benzobicyclon. 61
33202609 2020
17
Improved Herbicide Resistance of 4-Hydroxyphenylpyruvate Dioxygenase from Sphingobium sp. TPM-19 through Directed Evolution. 61
33105985 2020
18
Cloning of a novel topramezone-resistant 4-hydroxyphenylpyruvate dioxygenase gene and improvement of its resistance through pressure acclimation. 61
32912694 2020
19
Based on the Virtual Screening of Multiple Pharmacophores, Docking and Molecular Dynamics Simulation Approaches toward the Discovery of Novel HPPD Inhibitors. 61
32756361 2020
20
4-Hydroxyphenylpyruvate dioxygenase from sea cucumber Apostichopus japonicus negatively regulates reactive oxygen species production. 61
32276034 2020
21
Discovery of Novel Pyrazole-Quinazoline-2,4-dione Hybrids as 4-Hydroxyphenylpyruvate Dioxygenase Inhibitors. 61
32286826 2020
22
Evolution of resistance to HPPD-inhibiting herbicides in a wild radish population via enhanced herbicide metabolism. 61
31854080 2020
23
Combined 3D-quantitative structure-activity relationships and topomer technology-based molecular design of human 4-hydroxyphenylpyruvate dioxygenase inhibitors. 61
32223563 2020
24
The association between nurse staffing levels and a failure to respond to patients with deranged physiology: A retrospective observational study in the UK. 61
31945427 2020
25
Biochemical responses and DNA damage induced by herbicide QYR301 in earthworm (Eisenia fetida). 61
31816546 2020
26
Staff unavailability and safe staffing: are headroom allowances 'realistic'? 61
32279555 2020
27
Role of the N-terminus in human 4-hydroxyphenylpyruvate dioxygenase activity. 61
31722428 2020
28
Synthesis and herbicidal activity of novel pyrazole aromatic ketone analogs as HPPD inhibitor. 61
31429196 2020
29
Bipyrazone: a new HPPD-inhibiting herbicide in wheat. 61
32218463 2020
30
Design of a degenerate primer pair to target a bacterial functional community: The hppd bacterial gene coding for the enzyme targeted by herbicides, a study case. 61
31926848 2020
31
Synthesis and herbicidal activities of aryloxyacetic acid derivatives as HPPD inhibitors. 61
32180842 2020
32
Melanin and pyomelanin in Aspergillus fumigatus: from its genetics to host interaction. 61
31020477 2020
33
Assessing the Effects of β-Triketone Herbicides on the Soil Bacterial and hppd Communities: A Lab-to-Field Experiment. 61
33505377 2020
34
Isolation and Characterization of a Topramezone-Resistant 4-Hydroxyphenylpyruvate Dioxygenase from Sphingobium sp. TPM-19. 61
31884791 2020
35
Production of Herbicide-Sensitive Strain to Prevent Volunteer Rice Infestation Using a CRISPR-Cas9 Cytidine Deaminase Fusion. 61
32849670 2020
36
Assessment of genetically modified soybean SYHT0H2 for food and feed uses, import and processing, under Regulation (EC) No 1829/2003 (application EFSA-GMO-DE-2012-111). 61
32626498 2020
37
Predominance of Metabolic Resistance in a Six-Way-Resistant Palmer Amaranth (Amaranthus palmeri) Population. 61
33519873 2020
38
Analysis of the Health Product Profile Directory - a new tool to inform priority-setting in global public health. 61
31831000 2019
39
Method validation and dissipation kinetics of the new HPPD inhibitor QYR301 in rice, paddy water and paddy soil using a QuEChERS-based method and LC-MS/MS. 61
31473562 2019
40
7-H-Pyrrolo[2,3-d]pyrimidine derivative acts as promising agent for gastric cancer treatment by inducing cell death. 61
31696031 2019
41
Theoretical QSAR modelling and molecular docking studies of some 4-hydroxyphenylpyruvate dioxygenase (HPPD) enzyme inhibitors potentially used as herbicides. 61
31768442 2019
42
Disruption of hmgA by DNA Duplication is Responsible for Hyperpigmentation in a Vibrio anguillarum Strain. 61
31601906 2019
43
Pyrazole-Isoindoline-1,3-dione Hybrid: A Promising Scaffold for 4-Hydroxyphenylpyruvate Dioxygenase Inhibitors. 61
31525997 2019
44
Discovery of N-Aroyl Diketone/Triketone Derivatives as Novel 4-Hydroxyphenylpyruvate Dioxygenase Inhibiting-Based Herbicides. 61
31589436 2019
45
National trends and variation in nurse staffing on inpatient psychiatric units. 61
31429481 2019
46
Transcriptome responses to the natural phytotoxin t-chalcone in Arabidopsis thaliana L. 61
30868714 2019
47
The association between nurse staffing levels and the timeliness of vital signs monitoring: a retrospective observational study in the UK. 61
31562161 2019
48
Impact of differential DNA methylation on transgene expression in cotton (Gossypium hirsutum L.) events generated by targeted sequence insertion. 61
30549163 2019
49
A rice gene that confers broad-spectrum resistance to β-triketone herbicides. 61
31346065 2019
50
Genotype-dependent regulation of vitamin E biosynthesis in olive fruits as revealed through metabolic and transcriptional profiles. 61
30556243 2019

Variations for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Expression for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Search GEO for disease gene expression data for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness.

Pathways for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

GO Terms for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Sources for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

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61 PubMed
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71 UMLS via Orphanet
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