HPPD
MCID: HYP561
MIFTS: 22

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 73
Hppd 57 59
Hypertelorism-Preauricular Sinus-Punctual Pits-Hearing Loss Syndrome 59
Hypertelorism-Preauricular Sinus-Punctual Pits-Deafness Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypertelorism, preauricular sinus, punctal pits, and deafness:
Inheritance autosomal dominant inheritance


Classifications:



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 hypertelorism and preauricular sinus. An important gene associated with Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness is HPPD (Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness). Related phenotypes are hypertelorism and hearing impairment

Description 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 hypertelorism 10.5
2 preauricular sinus 10.5

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 hearing impairment 32 HP:0000365
3 nasolacrimal duct obstruction 32 occasional (7.5%) HP:0000579
4 preauricular pit 32 HP:0004467
5 shawl scrotum 32 occasional (7.5%) HP:0000049

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

Search Clinical Trials , 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

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

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

(show all 26)
# Title Authors Year
1
Impacts of hydroxyphenylpyruvate dioxygenase (HPPD) inhibitor (mesotrione) on photosynthetic processes in Chlamydomonas reinhardtii. ( 30343230 )
2019
2
A Review of Hallucinogen Persisting Perception Disorder (HPPD) and an Exploratory Study of Subjects Claiming Symptoms of HPPD. ( 27822679 )
2018
3
Tembotrione detoxification in 4-hydroxyphenylpyruvate dioxygenase (HPPD) inhibitor-resistant Palmer amaranth (Amaranthus palmeri S. Wats.). ( 29105299 )
2018
4
Evaluation of weed control efficacy and crop safety of the new HPPD-inhibiting herbicide-QYR301. ( 29785001 )
2018
5
Characterization and safety evaluation of HPPD W336, a modified 4-hydroxyphenylpyruvate dioxygenase protein, and the impact of its expression on plant metabolism in herbicide-tolerant MST-FGØ72-2 soybean. ( 29894735 )
2018
6
Isolation of pyomelanin from bacteria and evidences showing its synthesis by 4-hydroxyphenylpyruvate dioxygenase enzyme encoded by hppD gene. ( 30081124 )
2018
7
Supplementary data on the characterization and safety evaluation of HPPD W336, a modified 4-hydroxyphenylpyruvate dioxygenase protein, which confers herbicide tolerance, and on the compositional assessment of field grown MST-FGØ72-2 soybean expressing HPPD W336. ( 30338284 )
2018
8
Physiological and Molecular Characterization of Hydroxyphenylpyruvate Dioxygenase (HPPD)-inhibitor Resistance in Palmer Amaranth (Amaranthus palmeri S.Wats.). ( 28443128 )
2017
9
New Research for Quinazoline-2,4-diones as HPPD Inhibitors Based on 2D-MLR and 3D-QSAR Models. ( 28637410 )
2017
10
Comparing triggers to visual disturbances among individuals with positive vs negative experiences of hallucinogen-persisting perception disorder (HPPD) following LSD use. ( 28654720 )
2017
11
Overlapping Residual Herbicides for Control of Photosystem (PS) II- and 4-Hydroxyphenylpyruvate Dioxygenase (HPPD)-Inhibitor-Resistant Palmer amaranth (Amaranthus palmeri S. Watson) in Glyphosate-Resistant Maize. ( 29375605 )
2017
12
Discovery of (2-benzoylethen-1-ol)-containing 1,2-benzothiazine derivatives as novel 4-hydroxyphenylpyruvate dioxygenase (HPPD) inhibiting-based herbicide lead compounds. ( 26682702 )
2016
13
LSD-associated "Alice in Wonderland Syndrome"(AIWS): A Hallucinogen Persisting Perception Disorder (HPPD) Case Report. ( 25841113 )
2015
14
Synthetic Cannabis Substances (SPS) Use and Hallucinogen Persisting Perception Disorder (HPPD): Two Case Reports. ( 25841224 )
2014
15
Flashbacks and HPPD: A Clinical-oriented Concise Review. ( 25841228 )
2014
16
Improvement of hallucinogen persisting perception disorder (HPPD) with oral risperidone: case report. ( 30189471 )
2014
17
Sensitivity of locally naturalized Panicum species to HPPD- and ALS-inhibiting herbicides in maize. ( 23878990 )
2012
18
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31. ( 21480481 )
2011
19
The c4h, tat, hppr and hppd genes prompted engineering of rosmarinic acid biosynthetic pathway in Salvia miltiorrhiza hairy root cultures. ( 22242141 )
2011
20
Sensitivity of Echinochloa muricata and Echinochloa crus-galli to HPPD- and ALS-inhibiting herbicides in corn. ( 22696959 )
2011
21
HPPD: ligand- and target-based virtual screening on a herbicide target. ( 20359237 )
2010
22
Design, synthesis and herbicidal activity of new iron chelating motifs for HPPD-inhibitors. ( 19028100 )
2009
23
The tyrosine degradation gene hppD is transcriptionally activated by HpdA and repressed by HpdR in Streptomyces coelicolor, while hpdA is negatively autoregulated and repressed by HpdR. ( 17640269 )
2007
24
Manage productivity with HPPD. ( 12544584 )
2003
25
Pharmacokinetics and pharmacodynamics of NTBC (2-(2-nitro-4-fluoromethylbenzoyl)-1,3-cyclohexanedione) and mesotrione, inhibitors of 4-hydroxyphenyl pyruvate dioxygenase (HPPD) following a single dose to healthy male volunteers. ( 11488774 )
2001
26
SEPPD and HPPD: more effective control of nursing care costs. ( 1513393 )
1992

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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74 UMLS via Orphanet
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