MCID: PLL001
MIFTS: 55

Pallister-Hall Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pallister-Hall Syndrome

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Aliases & Descriptions for Pallister-Hall Syndrome:

Name: Pallister-Hall Syndrome 49 10 11 21 45 22 23 47 12 67 36 65
Phs 45 23 67
Hall-Pallister Syndrome 23 24
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 45
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly 67
 
Cerebroacrovisceral Early Lethality Complex 23
Hypothalamic Hamartoblastoma Syndrome 23
Pallister Hall Syndrome 45
Cave Complex 23

Characteristics:

HPO:

61
pallister-hall syndrome:
Mortality/Aging: neonatal death
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 146510
Disease Ontology10 DOID:9248
MeSH36 D054975
SNOMED-CT59 56677004
NCIt42 C84987
MedGen34 C0265220
UMLS65 C0265220

Summaries for Pallister-Hall Syndrome

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NIH Rare Diseases:45 Pallister-hall syndrome can affect of many parts of the body. common signs include extra fingers and/or toes and extra skin between the fingers or toes. people with the syndrome may have an abnormal growth in the brain called a hypothalamic hamartoma. hypothalamic hamartomas often cause no symptoms. rarely, infants with hypothalamic hamartomas develop serious hormone problems or seizures. other signs of pallister-hall syndrome include bifid epiglottis (a malformation of the airway), an obstruction of the anal opening, and kidney abnormalities. the severity of pallister-hall syndrome can be mild to severe, however only a small percentage of people have serious complications. pallister-hall syndrome is caused by a mutation in the gli3 gene. the mutation can be inherited from an affected parent, or can occur for the first time in a family due to a new mutation. last updated: 12/20/2013

MalaCards based summary: Pallister-Hall Syndrome, also known as phs, is related to culler-jones syndrome and pitt-hopkins syndrome, and has symptoms including abnormality of the toenails, intrauterine growth retardation and abnormality of the fingernails. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Signaling events mediated by the Hedgehog family. Affiliated tissues include kidney, skin and pituitary, and related mouse phenotypes are taste/olfaction and tumorigenesis.

UniProtKB/Swiss-Prot:67 Pallister-Hall syndrome: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia.

Genetics Home Reference:23 Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any medical problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.

OMIM:49 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary... (146510) more...

GeneReviews summary for NBK1465

Related Diseases for Pallister-Hall Syndrome

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Diseases related to Pallister-Hall Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1culler-jones syndrome11.4
2pitt-hopkins syndrome11.2
3hyperoxaluria, primary, type iii11.2
4hyperphenylalaninemia, bh4-deficient, d11.1
5hypothalamic hamartomas10.7
6imperforate anus10.4
7polydactyly10.3
8thrombophlebitis10.2GLI1, GLI2
9smith-lemli-opitz syndrome10.2
10hydrolethalus syndrome10.2
11mckusick-kaufman syndrome10.2
12hypoparathyroidism10.2
13laryngitis10.2
14hypopituitarism10.2
15adenosine monophosphate deaminase deficiency erythrocyte type10.2GLI2, GLI3, KIF7
16spondylocostal dysostosis 2, autosomal recessive10.1GLI3, KIF7
17penis squamous cell carcinoma10.0GLI1, SHH
18autosomal dominant complex spastic paraplegia type 9a9.9GLI1, SHH
19muscle tissue disease9.9GLI1, SHH
20bardet-biedl syndrome 69.9GLI3, MKKS
21agnathia-otocephaly complex9.9GLI2, SHH
22intestinal atresia9.8GLI2, GLI3, SHH
23germ cell and embryonal cancer9.8GLI1, SHH
24strictly posterior acute myocardial infarction9.8GLI2, IGF1
25lipodystrophy, congenital generalized, type 29.8KIF7, MKKS
26glaucoma, primary open angle, juvenile-onset, 29.7GLI1, GLI2, SHH
27pelizaeus-merzbacher-like disease due to gjc2 mutation9.7GAS1, GLI2, SHH
28alobar holoprosencephaly9.7GAS1, GLI2, SHH
29spasticity-intellectual disability-x-linked epilepsy syndrome9.7GAS1, GLI2, SHH
30connective tissue benign neoplasm9.7GLI1, GLI2, SHH
31x-linked dominant intellectual disability-epilepsy syndrome9.7GAS1, GLI2, SHH
32pallister-hall syndrome9.7GLI2, GLI3, KIF7, MECOM
33x-linked intellectual disability, hedera type9.7GAS1, GLI2, SHH
34bleeding diathesis due to thromboxane synthesis deficiency9.7GAS1, GLI2, SHH
35cervicomedullary junction neoplasm9.5GLI1, GLI2, GLI3, SHH
36intracranial cavernous angioma9.4GLI1, GLI2, GLI3, SHH
37dysbaric osteonecrosis9.4GLI3, MKKS, SHH
38constrictive pericarditis9.4GLI3, MKKS, SHH
39basal cell nevus syndrome8.7GAS1, GLI1, GLI2, GLI3, KIF7, SHH
40polydactyly, preaxial, type iv7.0GAS1, GLI1, GLI2, GLI3, IGF1, KIF7

Graphical network of the top 20 diseases related to Pallister-Hall Syndrome:



Diseases related to pallister-hall syndrome

Symptoms for Pallister-Hall Syndrome

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Symptoms by clinical synopsis from OMIM:

146510

Clinical features from OMIM:

146510

HPO human phenotypes related to Pallister-Hall Syndrome:

(show all 82)
id Description Frequency HPO Source Accession
1 abnormality of the toenails hallmark (90%) HP:0008388
2 intrauterine growth retardation hallmark (90%) HP:0001511
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 postaxial hand polydactyly hallmark (90%) HP:0001162
5 urogenital fistula typical (50%) HP:0100589
6 primary adrenal insufficiency typical (50%) HP:0008207
7 finger syndactyly typical (50%) HP:0006101
8 depressed nasal bridge typical (50%) HP:0005280
9 short nose typical (50%) HP:0003196
10 micromelia typical (50%) HP:0002983
11 tracheoesophageal fistula typical (50%) HP:0002575
12 abnormal lung lobation typical (50%) HP:0002101
13 anterior hypopituitarism typical (50%) HP:0000830
14 low-set, posteriorly rotated ears typical (50%) HP:0000368
15 micrognathia typical (50%) HP:0000347
16 cleft palate typical (50%) HP:0000175
17 cryptorchidism typical (50%) HP:0000028
18 multicystic kidney dysplasia typical (50%) HP:0000003
19 cognitive impairment occasional (7.5%) HP:0100543
20 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
21 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
22 aganglionic megacolon occasional (7.5%) HP:0002251
23 postaxial foot polydactyly occasional (7.5%) HP:0001830
24 toe syndactyly occasional (7.5%) HP:0001770
25 abnormality of the heart valves occasional (7.5%) HP:0001654
26 patent ductus arteriosus occasional (7.5%) HP:0001643
27 ventricular septal defect occasional (7.5%) HP:0001629
28 seizures occasional (7.5%) HP:0001250
29 brachydactyly syndrome occasional (7.5%) HP:0001156
30 precocious puberty occasional (7.5%) HP:0000826
31 behavioral abnormality occasional (7.5%) HP:0000708
32 oligodactyly HP:0012165
33 bifid epiglottis HP:0010564
34 mesoaxial foot polydactyly HP:0010112
35 short 4th metacarpal HP:0010044
36 laryngeal cleft HP:0008751
37 decreased testicular size HP:0008734
38 distal urethral duplication HP:0008706
39 microtia HP:0008551
40 hypocortisolemia HP:0008220
41 thyroid dysgenesis HP:0008188
42 midline facial capillary hemangioma HP:0007601
43 distal shortening of limbs HP:0006402
44 mesoaxial hand polydactyly HP:0006159
45 y-shaped metacarpals HP:0006042
46 hypoplasia of the epiglottis HP:0005349
47 depressed nasal bridge HP:0005280
48 preductal coarctation of the aorta HP:0005151
49 short stature HP:0004322
50 short nose HP:0003196
51 radial head subluxation HP:0003048
52 hemivertebrae HP:0002937
53 hip dislocation HP:0002827
54 hypothalamic hamartoma HP:0002444
55 nail dysplasia HP:0002164
56 abnormal lung lobation HP:0002101
57 anal atresia HP:0002023
58 postaxial foot polydactyly HP:0001830
59 toe syndactyly HP:0001770
60 patent ductus arteriosus HP:0001643
61 ventricular septal defect HP:0001629
62 intrauterine growth retardation HP:0001511
63 holoprosencephaly HP:0001360
64 seizures HP:0001250
65 postaxial hand polydactyly HP:0001162
66 rib fusion HP:0000902
67 panhypopituitarism HP:0000871
68 adrenal hypoplasia HP:0000835
69 precocious puberty HP:0000826
70 growth hormone deficiency HP:0000824
71 natal tooth HP:0000695
72 microphthalmia HP:0000568
73 anteverted nares HP:0000463
74 atresia of the external auditory canal HP:0000413
75 cleft upper lip HP:0000204
76 microglossia HP:0000171
77 renal dysplasia HP:0000110
78 renal cyst HP:0000107
79 renal hypoplasia HP:0000089
80 ectopic kidney HP:0000086
81 micropenis HP:0000054
82 cryptorchidism HP:0000028

Drugs & Therapeutics for Pallister-Hall Syndrome

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Drugs for Pallister-Hall Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mentholapproved19992216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
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Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404

Search NIH Clinical Center for Pallister-Hall Syndrome


Cochrane evidence based reviews: pallister-hall syndrome

Genetic Tests for Pallister-Hall Syndrome

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Genetic tests related to Pallister-Hall Syndrome:

id Genetic test Affiliating Genes
1 Pallister-Hall Syndrome22 GLI3

Anatomical Context for Pallister-Hall Syndrome

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MalaCards organs/tissues related to Pallister-Hall Syndrome:

33
Kidney, Skin, Pituitary, Brain, Heart, Thyroid, Lung

Animal Models for Pallister-Hall Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

38 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1GLI3, MKKS, SHH
2MP:00020069.0GLI1, IGF1, MECOM, SHH
3MP:00030128.8GLI1, GLI2, GLI3, KIF7, SHH
4MP:00053818.7GLI1, GLI2, GLI3, KIF7, SHH
5MP:00107718.6GLI2, GLI3, IGF1, MECOM, SHH
6MP:00053698.3GLI2, IGF1, KIF7, MECOM, SHH
7MP:00053807.8GAS1, GLI1, GLI2, GLI3, KIF7, MECOM
8MP:00053917.8GAS1, GLI2, GLI3, KIF7, MKKS, SHH
9MP:00053907.3GAS1, GLI2, GLI3, IGF1, KIF7, MECOM
10MP:00053897.0GLI1, GLI2, GLI3, IGF1, KIF7, MECOM
11MP:00053856.8GAS1, GLI3, IGF1, KIF7, MECOM, MKKS
12MP:00053826.7GAS1, GLI1, GLI2, GLI3, KIF7, MECOM
13MP:00053766.7GAS1, GLI2, GLI3, IGF1, KIF7, MECOM
14MP:00053776.5GAS1, GLI2, GLI3, IGF1, MECOM, MKKS
15MP:00053716.5GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
16MP:00053886.5GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
17MP:00036316.4GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
18MP:00053846.4GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
19MP:00107686.1GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
20MP:00053786.1GAS1, GLI1, GLI2, GLI3, IGF1, KIF7

Publications for Pallister-Hall Syndrome

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Articles related to Pallister-Hall Syndrome:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. (26604140)
2016
2
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. (25604768)
2015
3
Pallister-Hall syndrome has gone the way of modern medical genetics. (25424727)
2014
4
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. (23950073)
2013
5
Cochlear abnormality in a case of Pallister-Hall syndrome. (22890695)
2012
6
Teaching NeuroImages: isolated hypothalamic hamartoma vs Pallister-Hall syndrome: imaging and clinical correlation. (22927681)
2012
7
Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation. (22499313)
2012
8
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. (21108399)
2010
9
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome. (19793630)
2010
10
Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome. (20004865)
2010
11
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. (19449422)
2009
12
Genitourinary malformations as a feature of the Pallister-Hall syndrome. (16531732)
2006
13
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. (15660767)
2005
14
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. (16007608)
2005
15
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. (15617553)
2005
16
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (15046066)
2004
17
Gonadal mosaicism in severe Pallister-Hall syndrome. (14708104)
2004
18
Pallister-Hall syndrome with hypoparathyroidism. (15237717)
2004
19
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. (12773293)
2003
20
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. (14523835)
2003
21
Gli 3 mutation in Pallister-Hall syndrome. (12017244)
2002
22
Pallister-Hall syndrome phenotype in mice mutant for Gli3. (11978771)
2002
23
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. (11305791)
2001
24
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. (11693785)
2001
25
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. (11241471)
2001
26
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. (10982485)
2000
27
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. (10945658)
2000
28
Pallister-Hall syndrome. (9615516)
1998
29
Pallister-Hall syndrome. (9807095)
1998
30
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (9192261)
1997
31
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. (9054938)
1997
32
Pallister-Hall syndrome. (8818945)
1996
33
Report from the workshop on Pallister-Hall syndrome and related phenotypes. (8914745)
1996
34
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. (8950676)
1996
35
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. (7473651)
1995
36
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? (7760322)
1995
37
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. (8591673)
1995
38
The Pallister-Hall syndrome. (7815447)
1994
39
Familial Pallister-Hall syndrome. (8021773)
1994
40
Familial Pallister-Hall syndrome: three affected offspring. (7802025)
1994
41
Familial Pallister-Hall syndrome. (7880273)
1994
42
Familial Pallister-Hall syndrome: case report and hormonal evaluation. (8135274)
1993
43
Autosomal dominant transmission of the Pallister-Hall syndrome. (8229528)
1993
44
Pallister-Hall Syndrome (20301638)
1993
45
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. (1776653)
1991
46
Extending the Pallister-Hall syndrome to include other central nervous system malformations. (1746599)
1991
47
Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome. (2596511)
1989
48
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? (3425639)
1987
49
A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome). (3146300)
1986
50
Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome) (7057839)
1982

Variations for Pallister-Hall Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Pallister-Hall Syndrome:

67
id Symbol AA change Variation ID SNP ID
1KIF7p.Pro632LeuVAR_066450rs115857753

Clinvar genetic disease variations for Pallister-Hall Syndrome:

5 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1GLI3NM_000168.5(GLI3): c.2023delG (p.Glu675Serfs)deletionPathogenicrs116840744GRCh37Chr 7, 42012016: 42012016
2GLI3NM_000168.5(GLI3): c.2012delG (p.Gly671Glufs)deletionPathogenicrs116840743GRCh37Chr 7, 42012027: 42012027
3GLI3NM_000168.5(GLI3): c.3439G> T (p.Glu1147Ter)single nucleotide variantPathogenicrs116840768GRCh37Chr 7, 42005232: 42005232
4GLI3NM_000168.5(GLI3): c.2770_2771insNC_012920.1: g.12243..12314insertionPathogenicGRCh37Chr 7, 42005900: 42005901
5GLI3NM_000168.5(GLI3): c.2188_2206del19 (p.Leu730Valfs)deletionPathogenicrs116840754GRCh37Chr 7, 42007419: 42007437
6GLI3NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs)deletionPathogenicrs116840742GRCh37Chr 7, 42012038: 42012041
7GLI3NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs)deletionPathogenicrs116840745GRCh37Chr 7, 42012007: 42012007
8GLI3NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter)indelPathogenicrs116840746GRCh37Chr 7, 42011980: 42011981
9GLI3NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter)single nucleotide variantPathogenicrs116840747GRCh37Chr 7, 42011977: 42011977
10GLI3NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter)single nucleotide variantPathogenicrs116840748GRCh37Chr 7, 42007515: 42007515
11GLI3NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs)deletionPathogenicrs116840749GRCh37Chr 7, 42007486: 42007486
12GLI3NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter)single nucleotide variantPathogenicrs116840750GRCh37Chr 7, 42007479: 42007479
13GLI3NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter)single nucleotide variantPathogenicrs116840751GRCh37Chr 7, 42007476: 42007476
14GLI3NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs)deletionPathogenicrs116840752GRCh37Chr 7, 42007468: 42007468
15GLI3NM_000168.5(GLI3): c.2172dupC (p.Asn725Glnfs)duplicationPathogenicrs116840753GRCh37Chr 7, 42007453: 42007453
16GLI3NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs)deletionPathogenicrs116840755GRCh37Chr 7, 42007427: 42007428
17GLI3NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs)deletionPathogenicrs116840756GRCh37Chr 7, 42007269: 42007279
18GLI3NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs)deletionPathogenicrs116840757GRCh37Chr 7, 42007270: 42007274
19GLI3NM_000168.5(GLI3): c.2431+1G> Asingle nucleotide variantPathogenicrs116840758GRCh37Chr 7, 42007193: 42007193
20GLI3NM_000168.5(GLI3): c.2483delC (p.Pro828Argfs)deletionPathogenicrs116840759GRCh37Chr 7, 42006188: 42006188
21GLI3NM_000168.5(GLI3): c.2567C> A (p.Ser856Ter)single nucleotide variantPathogenicrs116840760GRCh37Chr 7, 42006104: 42006104
22GLI3NM_000168.5(GLI3): c.2620delC (p.Arg874Alafs)deletionPathogenicrs116840761GRCh37Chr 7, 42006051: 42006051
23GLI3NM_000168.5(GLI3): c.2628delC (p.Ser877Alafs)deletionPathogenicrs116840762GRCh37Chr 7, 42006043: 42006043
24GLI3NM_000168.5(GLI3): c.2799C> G (p.Tyr933Ter)single nucleotide variantPathogenicrs116840763GRCh37Chr 7, 42005872: 42005872
25GLI3NM_000168.5(GLI3): c.2935delT (p.Cys979Alafs)deletionPathogenicrs116840764GRCh37Chr 7, 42005736: 42005736
26GLI3NM_000168.5(GLI3): c.3004delG (p.Val1002Terfs)deletionPathogenicrs116840765GRCh37Chr 7, 42005667: 42005667
27GLI3NM_000168.5(GLI3): c.3324C> G (p.Tyr1108Ter)single nucleotide variantPathogenicrs116840766GRCh37Chr 7, 42005347: 42005347
28GLI3NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs)deletionPathogenicrs281864935GRCh37Chr 7, 42005284: 42005285
29GLI3NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp)single nucleotide variantPathogenicrs116840769GRCh37Chr 7, 42005215: 42005215
30GLI3NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter)single nucleotide variantPathogenicrs116840770GRCh37Chr 7, 42005190: 42005190

Expression for genes affiliated with Pallister-Hall Syndrome

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Search GEO for disease gene expression data for Pallister-Hall Syndrome.

Pathways for genes affiliated with Pallister-Hall Syndrome

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GO Terms for genes affiliated with Pallister-Hall Syndrome

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Cellular components related to Pallister-Hall Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary tipGO:00975429.8GLI1, KIF7
2axonemeGO:00059309.4GLI1, GLI2, GLI3

Biological processes related to Pallister-Hall Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1spinal cord dorsal/ventral patterningGO:002151310.4GLI2, GLI3
2cerebellar cortex morphogenesisGO:002169610.4GLI1, GLI2
3spinal cord motor neuron differentiationGO:002152210.3GLI2, GLI3
4embryonic digestive tract developmentGO:004856610.3GLI2, GLI3
5negative regulation of alpha-beta T cell differentiationGO:004663910.2GLI3, SHH
6response to mechanical stimulusGO:000961210.2GLI2, IGF1
7embryonic morphogenesisGO:004859810.2GLI3, SHH
8neural tube developmentGO:002191510.2GLI2, GLI3
9negative thymic T cell selectionGO:004506010.2GLI3, SHH
10positive regulation of T cell differentiation in thymusGO:003308910.1GLI2, SHH
11anatomical structure developmentGO:004885610.1GLI2, SHH
12mammary gland developmentGO:003087910.1GLI2, GLI3
13positive regulation of osteoblast differentiationGO:004566910.1GLI3, IGF1
14T cell differentiation in thymusGO:003307710.1GLI3, SHH
15artery developmentGO:006084010.1GLI3, SHH
16neuron fate commitmentGO:004866310.1GLI3, SHH
17limb developmentGO:006017310.1GLI3, SHH
18embryonic digestive tract morphogenesisGO:004855710.1GLI3, SHH
19dorsal/ventral neural tube patterningGO:002190410.1GLI2, SHH
20negative regulation of cell differentiationGO:004559610.1GLI3, SHH
21myoblast differentiationGO:004544510.0IGF1, SHH
22positive regulation of protein import into nucleusGO:004230710.0GLI3, SHH
23metanephros developmentGO:00016569.9GLI3, SHH
24inner ear developmentGO:00488399.9GLI3, SHH
25positive regulation of DNA replicationGO:00457409.9GLI2, IGF1
26pattern specification processGO:00073899.9GLI2, SHH
27odontogenesis of dentin-containing toothGO:00424759.8GLI2, SHH
28positive regulation of smoothened signaling pathwayGO:00458809.8GLI1, SHH
29regulation of smoothened signaling pathwayGO:00085899.7GAS1, GLI1, GLI2
30proximal/distal pattern formationGO:00099549.7GLI1, GLI2, GLI3
31embryonic digit morphogenesisGO:00427339.7GLI2, GLI3, SHH
32anterior/posterior pattern specificationGO:00099529.6GLI2, GLI3, SHH
33dorsal/ventral pattern formationGO:00099539.6GLI1, GLI2, SHH
34regulation of gene expressionGO:00104689.6GLI3, IGF1, SHH
35heart loopingGO:00019479.6MKKS, SHH
36kidney developmentGO:00018229.5GLI2, GLI3, SHH
37hippocampus developmentGO:00217669.5GLI3, MKKS
38anatomical structure formation involved in morphogenesisGO:00486469.5GLI3, SHH
39branching morphogenesis of an epithelial tubeGO:00487549.5GLI2, GLI3, SHH
40determination of left/right symmetryGO:00073689.5MKKS, SHH
41embryonic limb morphogenesisGO:00303269.4GLI3, SHH
42negative regulation of canonical Wnt signaling pathwayGO:00900909.4GLI1, GLI3, SHH
43positive regulation of neuroblast proliferationGO:00020529.2GLI3, SHH
44smoothened signaling pathwayGO:00072249.2GLI1, GLI2, GLI3, SHH
45developmental growthGO:00485899.1GAS1, GLI2, GLI3, SHH
46regulation of cell proliferationGO:00421279.1GLI3, IGF1, SHH
47negative regulation of apoptotic processGO:00430668.9GLI2, GLI3, IGF1, SHH
48positive regulation of cell proliferationGO:00082848.8GLI1, GLI2, IGF1, SHH
49positive regulation of transcription from RNA polymerase II promoterGO:00459448.4GLI1, GLI2, GLI3, IGF1, SHH
50positive regulation of transcription, DNA-templatedGO:00458938.2GLI1, GLI2, GLI3, IGF1, MECOM, SHH

Sources for Pallister-Hall Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet