PHS
MCID: PLL001
MIFTS: 61

Pallister-Hall Syndrome (PHS)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pallister-Hall Syndrome

MalaCards integrated aliases for Pallister-Hall Syndrome:

Name: Pallister-Hall Syndrome 58 12 77 25 54 26 76 38 30 13 56 6 45 15 41 74
Phs 58 54 26 76
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 58 54
a Syndrome That is Characterized by Hypothalamic Hamartoma, Pituitary Dysfunction, Central Polydactyly, and Visceral Malformations and Has_material_basis_in Autosomal Dominant Heterozygous Mutation in the Gli3 Gene on Chromosome 7p14. 12
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly 76
Pallister Hall Syndrome 54
Hall-Pallister Syndrome 26
Phy 77

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
variable severity


HPO:

33
pallister-hall syndrome:
Clinical modifier neonatal death
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance No instances of incomplete penetrance of phs have been published...

Classifications:



Summaries for Pallister-Hall Syndrome

NIH Rare Diseases : 54 Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly), extra skin between the fingers or toes (syndactyly), an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway known as bifid epiglottis. The bifid epiglottis in rare cases may lead to respiratory failure. While the hypothalamic hamartoma in most cases does not cause problems, in some cases it may cause neurological problems such as seizures, growth hormone deficiency, precocious puberty, or a deficiency of many hormones (panhypopituitarism) that can result in cortisol deficiency. Other symptoms of PHS may include imperforate anus, abnormalities in the kidneys, heart defects, small genitalia, lack of fingers, nail problems, cleft palate, bifid uvula, and development delay and behavioral problems.  Pallister-Hall syndrome is caused by mutations in the GLI3 gene. Inheritance is autosomal dominant, however, in about a quarter of cases Pallister-Hall syndrome results from a new (de novo) mutation. The diagnosis of Pallister-Hall syndrome can be made when there is a hypothalamic hamartoma and polydactyly. The genetic test that identifies a mutation in the GLI3 gene confirms the diagnosis. Treatment is based on the symptoms, and may include medication for the early treatment of cortisol deficiency and seizures, surgery for imperforate anus and/or polydactyly, and special education when developmental delays are present. The prognosis depends on which symptoms are present and their severity.

MalaCards based summary : Pallister-Hall Syndrome, also known as phs, is related to culler-jones syndrome and mckusick-kaufman syndrome. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include pituitary, brain and skin, and related phenotypes are hypothalamic hamartoma and macrocephaly

Genetics Home Reference : 26 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 health 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 : 58 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996). (146510)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Pallister–Hall syndrome is a disorder that affects the development of many parts of the... more...

GeneReviews: NBK1465

Related Diseases for Pallister-Hall Syndrome

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

(show top 50) (show all 791)
# Related Disease Score Top Affiliating Genes
1 culler-jones syndrome 32.8 GLI2 GLI3
2 mckusick-kaufman syndrome 30.6 GLI3 MKKS
3 hypopituitarism 30.0 GLI2 IGF1
4 polydactyly 30.0 GLI2 GLI3 MKKS SHH
5 hydrolethalus syndrome 1 29.8 KIF7 SHH
6 esophageal atresia 29.7 GLI2 GLI3 SHH
7 greig cephalopolysyndactyly syndrome 29.7 GLI2 GLI3 KIF7 SHH
8 tracheoesophageal fistula 29.1 GLI3 SHH
9 medulloblastoma 29.0 GLI1 GLI2 GLI3 SHH
10 brain cancer 29.0 GLI1 GLI3 SHH
11 hypothalamic hamartomas 11.8
12 pulmonary hypertension 11.7
13 paroxysmal hemicrania 11.7
14 leukemia, chronic myeloid 11.4
15 metabolic acidosis 11.4
16 hyperoxaluria, primary, type iii 11.3
17 lactic acidosis 11.3
18 helicobacter pylori infection 11.3
19 renal tubular acidosis, distal 11.3
20 bartter disease 11.3
21 hyperphenylalaninemia, bh4-deficient, d 11.3
22 acid sphingomyelinase deficiency 11.1
23 pitt-hopkins syndrome 11.1
24 pheochromocytoma 11.0
25 renal tubular acidosis, distal, autosomal dominant 11.0
26 gitelman syndrome 11.0
27 smith-lemli-opitz syndrome 11.0
28 urinary system disease 11.0
29 hyperuricemia 11.0
30 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.8
31 leukemia 10.7
32 gastroesophageal reflux 10.6
33 alzheimer disease 10.6
34 lung cancer 10.6
35 anus, imperforate 10.5
36 lymphocytic leukemia 10.4
37 leukemia, acute lymphoblastic 10.4
38 myeloid leukemia 10.4
39 duodenal ulcer 10.3
40 acute lymphocytic leukemia 10.3
41 diphtheria 10.3
42 cystic fibrosis 10.3
43 polydactyly, postaxial, type a1 10.2
44 polydactyly, preaxial iv 10.2
45 renal hypodysplasia/aplasia 1 10.2
46 west syndrome 10.2
47 hydronephrosis 10.2
48 hypoparathyroidism 10.2
49 epilepsy 10.2
50 orofaciodigital syndrome 10.2

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



Diseases related to Pallister-Hall Syndrome

Symptoms & Phenotypes for Pallister-Hall Syndrome

Human phenotypes related to Pallister-Hall Syndrome:

33 (show top 50) (show all 118)
# Description HPO Frequency HPO Source Accession
1 hypothalamic hamartoma 33 very rare (1%) HP:0002444
2 macrocephaly 33 frequent (33%) HP:0000256
3 hypertelorism 33 frequent (33%) HP:0000316
4 ptosis 33 frequent (33%) HP:0000508
5 skeletal dysplasia 33 frequent (33%) HP:0002652
6 short nose 33 frequent (33%) HP:0003196
7 microtia 33 very rare (1%) HP:0008551
8 anteverted nares 33 occasional (7.5%) HP:0000463
9 short stature 33 frequent (33%) HP:0004322
10 broad thumb 33 frequent (33%) HP:0011304
11 intrauterine growth retardation 33 frequent (33%) HP:0001511
12 short 4th metacarpal 33 occasional (7.5%) HP:0010044
13 hip dislocation 33 frequent (33%) HP:0002827
14 depressed nasal ridge 33 frequent (33%) HP:0000457
15 microphthalmia 33 very rare (1%) HP:0000568
16 low-set, posteriorly rotated ears 33 frequent (33%) HP:0000368
17 downslanted palpebral fissures 33 frequent (33%) HP:0000494
18 brachydactyly 33 frequent (33%) HP:0001156
19 anal atresia 33 frequent (33%) HP:0002023
20 nail dysplasia 33 frequent (33%) HP:0002164
21 abnormal basal ganglia mri signal intensity 33 frequent (33%) HP:0012751
22 hemivertebrae 33 very rare (1%) HP:0002937
23 toe syndactyly 33 occasional (7.5%) HP:0001770
24 atresia of the external auditory canal 33 very rare (1%) HP:0000413
25 rib fusion 33 very rare (1%) HP:0000902
26 bifid uvula 33 frequent (33%) HP:0000193
27 secondary growth hormone deficiency 33 frequent (33%) HP:0008240
28 pituitary hypothyroidism 33 frequent (33%) HP:0008245
29 adrenocorticotropic hormone deficiency 33 frequent (33%) HP:0011748
30 recurrent upper and lower respiratory tract infections 33 frequent (33%) HP:0200117
31 radial bowing 33 frequent (33%) HP:0002986
32 accessory oral frenulum 33 frequent (33%) HP:0000191
33 renal dysplasia 33 frequent (33%) HP:0000110
34 natal tooth 33 occasional (7.5%) HP:0000695
35 abnormal prolactin level 33 frequent (33%) HP:0040086
36 radial head subluxation 33 frequent (33%) HP:0003048
37 3-4 finger cutaneous syndactyly 33 frequent (33%) HP:0011939
38 central adrenal insufficiency 33 frequent (33%) HP:0011734
39 gonadotropin deficiency 33 frequent (33%) HP:0008213
40 laryngeal cleft 33 frequent (33%) HP:0008751
41 bilateral postaxial polydactyly 33 frequent (33%) HP:0006136
42 supernumerary metacarpal bones 33 frequent (33%) HP:0005917
43 polydactyly affecting the 3rd finger 33 frequent (33%) HP:0009958
44 polydactyly affecting the 4th finger 33 frequent (33%) HP:0009971
45 precocious puberty 33 occasional (7.5%) HP:0000826
46 inguinal hernia 33 occasional (7.5%) HP:0000023
47 global developmental delay 33 very rare (1%) HP:0001263
48 depressed nasal bridge 33 occasional (7.5%) HP:0005280
49 umbilical hernia 33 occasional (7.5%) HP:0001537
50 cleft palate 33 occasional (7.5%) HP:0000175

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
short nose
anteverted nares
flat nasal bridge

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism
testicular hypoplasia

Head And Neck Eyes:
microphthalmia

Skin Nails Hair Nails:
nail dysplasia

Genitourinary External Genitalia Male:
micropenis

Endocrine Features:
panhypopituitarism
adrenal gland hypoplasia
thyroid dysplasia/aplasia

Skin Nails Hair Skin:
midline facial capillary hemangioma

Genitourinary Kidneys:
renal dysplasia
renal ectopia

Neurologic Central Nervous System:
hypothalamic hamartoma
holoprosencephaly (less common)
pituitary aplasia or dysplasia

Respiratory Larynx:
bifid epiglottis
laryngeal cleft
hypoplastic epiglottis

Skeletal Pelvis:
dislocated hips

Head And Neck Teeth:
natal teeth

Head And Neck Ears:
microtia
posteriorly rotated ears
simple auricles
absent external auditory canals

Cardiovascular Vascular:
patent ductus arteriosus

Growth Other:
intrauterine growth retardation

Cardiovascular Heart:
ventricular septal defect
proximal aortic coarctation

Skeletal Spine:
hemivertebrae

Skeletal Hands:
oligodactyly
syndactyly
postaxial polydactyly
short 4th metacarpals

Respiratory Lung:
abnormal lung lobation

Skeletal Feet:
syndactyly
postaxial polydactyly

Head And Neck Mouth:
microglossia
multiple buccal frenula
cleft lip and palate

Skeletal Limbs:
distal shortening of limbs
radial subluxation

Abdomen Gastrointestinal:
imperforate anus

Chest Ribs Sternum Clavicles And Scapulae:
fused ribs

Clinical features from OMIM:

146510

MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

47 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
2 growth/size/body region MP:0005378 10.08 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
3 craniofacial MP:0005382 10.05 GLI1 GLI2 GLI3 KIF7 MKKS SHH
4 limbs/digits/tail MP:0005371 10.04 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
5 mortality/aging MP:0010768 10.02 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
6 nervous system MP:0003631 10 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
7 cardiovascular system MP:0005385 9.99 GLI3 IGF1 KIF7 MKKS SHH
8 homeostasis/metabolism MP:0005376 9.99 GLI2 GLI3 IGF1 KIF7 MKKS SHH
9 digestive/alimentary MP:0005381 9.97 GLI1 GLI2 GLI3 KIF7 SHH
10 embryo MP:0005380 9.96 GLI1 GLI2 GLI3 KIF7 SHH
11 endocrine/exocrine gland MP:0005379 9.95 GLI1 GLI2 GLI3 IGF1 SHH
12 hearing/vestibular/ear MP:0005377 9.92 GLI2 GLI3 IGF1 MKKS SHH
13 reproductive system MP:0005389 9.87 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
14 no phenotypic analysis MP:0003012 9.83 GLI1 GLI2 GLI3 KIF7 SHH
15 normal MP:0002873 9.8 GLI1 GLI2 GLI3 IGF1 SHH
16 respiratory system MP:0005388 9.8 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
17 renal/urinary system MP:0005367 9.67 GLI1 GLI3 IGF1 SHH
18 skeleton MP:0005390 9.55 GLI2 GLI3 IGF1 KIF7 SHH
19 taste/olfaction MP:0005394 9.13 GLI3 MKKS SHH
20 vision/eye MP:0005391 9.02 GLI2 GLI3 KIF7 MKKS SHH

Drugs & Therapeutics for Pallister-Hall Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404

Search NIH Clinical Center for Pallister-Hall Syndrome

Cochrane evidence based reviews: pallister-hall syndrome

Genetic Tests for Pallister-Hall Syndrome

Genetic tests related to Pallister-Hall Syndrome:

# Genetic test Affiliating Genes
1 Pallister-Hall Syndrome 30 GLI3

Anatomical Context for Pallister-Hall Syndrome

MalaCards organs/tissues related to Pallister-Hall Syndrome:

42
Pituitary, Brain, Skin, Heart, Kidney, Testes, Bone

Publications for Pallister-Hall Syndrome

Articles related to Pallister-Hall Syndrome:

(show top 50) (show all 506)
# Title Authors Year
1
Sulfidation mitigates the passivation of zero valent iron at alkaline pHs: Experimental evidences and mechanism. ( 31100577 )
2019
2
Phosphate adsorption on hydrous ferric oxide (HFO) at different salinities and pHs. ( 30884296 )
2019
3
In-office bleaching with a commercial 40% hydrogen peroxide gel modified to have different pHs: Color change, surface morphology, and penetration of hydrogen peroxide into the pulp chamber. ( 30790402 )
2019
4
Antibacterial oxidized starch/ZnO nanocomposite hydrogel: Synthesis and evaluation of its swelling behaviours in various pHs and salt solutions. ( 30594626 )
2019
5
Pallister-Hall Syndrome Presenting in Adolescence. ( 31011455 )
2019
6
Metal leachability from coal combustion residuals under different pHs and liquid/solid ratios. ( 28768222 )
2018
7
A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma. ( 30455963 )
2018
8
Protein-Resistant Property of Egg White Ovomucin under Different pHs and Ionic Strengths. ( 30277391 )
2018
9
The association between wet-bulb globe temperature and other thermal indices (DI, MDI, PMV, PPD, PHS, PSI and PSIhr): a field study. ( 29993343 )
2018
10
A Study on Microstructure and Properties of PHS Fiber Laser Welded Joints Obtained in Air Atmospheres. ( 29973536 )
2018
11
Catalytic oxidation of arsenite and reaction pathways on the surface of CuO nanoparticles at a wide range of pHs. ( 29934914 )
2018
12
Structural and photodynamic properties of the anti-cancer drug irinotecan in aqueous solutions of different pHs. ( 29761192 )
2018
13
Preferential adhesion of surface groups of Bacillus subtilis on gibbsite at different ionic strengths and pHs revealed by ATR-FTIR spectroscopy. ( 29459260 )
2018
14
Necessity of Interrupted Time Series Analysis in Evaluating the Impact of PHS Risk Identification and Introduction of Direct-Acting Antiviral Therapy and Share 35 Implementation. ( 29319614 )
2018
15
Phosphorus dissolution from dewatered anaerobic sludge: Effect of pHs, microorganisms, and sequential extraction. ( 29065329 )
2018
16
Sucrose Octaacetate Chemical Kinetics and Shelf Lives at Various Formulation pHs. ( 28646247 )
2018
17
Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report. ( 30486853 )
2018
18
Bifid epiglottis, high-arched palate, and mental disorder in a patient with Pallister-Hall syndrome. ( 30443073 )
2018
19
Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome. ( 28429635 )
2018
20
Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas. ( 29368652 )
2018
21
Detection of Acute Myocardial Infarction in a Pig Model Using the SAN-Atrial-AVN-His (SAAH) Electrocardiogram (ECG), Model PHS-A10, an Automated and Integrated Signals Recognition System. ( 29502127 )
2018
22
Haplotype Analysis of the Pre-harvest Sprouting Resistance Locus Phs-A1 Reveals a Causal Role of TaMKK3-A in Global Germplasm. ( 28955352 )
2017
23
Collaboration of the NIH and PHS Commissioned Corps in the International Ebola Clinical Research Response. ( 29200807 )
2017
24
Anthocyanin condensed forms do not affect color or chemical stability of purple corn pericarp extracts stored under different pHs. ( 28490122 )
2017
25
Deceased Organ Donors and PHS Risk Identification: Impact on Organ Usage and Outcomes. ( 28252560 )
2017
26
The "PHS Increased Risk" Label Is Associated With Nonutilization of Hundreds of Organs per Year. ( 28196048 )
2017
27
Single temperature liquefaction process at different operating pHs to improve ethanol production from Indian rice and corn feedstock. ( 27737626 )
2017
28
Pallister-Hall Syndrome. ( 29204208 )
2017
29
High Laccase Expression by Trametes versicolor in a Simulated Textile Effluent with Different Carbon Sources and PHs. ( 27490563 )
2016
30
The wheat Phs-A1 pre-harvest sprouting resistance locus delays the rate of seed dormancy loss and maps 0.3 cM distal to the PM19 genes in UK germplasm. ( 27217549 )
2016
31
Tailoring of global transcription sigma D factor by random mutagenesis to improve Escherichia coli tolerance towards low-pHs. ( 26971973 )
2016
32
Assessment of the Shear Bond Strength between Nanofilled Composite Bonded to Glass-ionomer Cement Using Self-etch Adhesive with Different pHs and Total-Etch Adhesive. ( 26966701 )
2016
33
Self-organization of gliadin in aqueous media under physiological digestive pHs. ( 26897550 )
2016
34
N-Glycosylation Improves the Pepsin Resistance of Histidine Acid Phosphatase Phytases by Enhancing Their Stability at Acidic pHs and Reducing Pepsin's Accessibility to Its Cleavage Sites. ( 26637601 )
2016
35
siRNA-Loaded Polyion Complex Micelle Decorated with Charge-Conversional Polymer Tuned to Undergo Stepwise Response to Intra-Tumoral and Intra-Endosomal pHs for Exerting Enhanced RNAi Efficacy. ( 26616636 )
2016
36
On the Effect of Thermophysical Properties of Clothing on the Heat Strain Predicted by PHS Model. ( 26420266 )
2016
37
Bifid epiglottis in a patient with Pallister-Hall syndrome. ( 27339091 )
2016
38
The early history of Pallister-Hall syndrome-Buried treasure of a sort. ( 26768579 )
2016
39
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. ( 26604140 )
2016
40
Polyelectrolyte complexes of poly[(2-dimethylamino) ethyl methacrylate]/chondroitin sulfate obtained at different pHs: Preparation, characterization, cytotoxicity and controlled release of chondroitin sulfate. ( 27005145 )
2015
41
Patterns of Care For Metastatic Pancreatic Cancer: Real World Data From The Brazilian Private Health System (Phs). ( 26534401 )
2015
42
Phenylalanine interaction with lipid monolayers at different pHs. ( 26283499 )
2015
43
Independent mis-splicing mutations in TaPHS1 causing loss of preharvest sprouting (PHS) resistance during wheat domestication. ( 26255630 )
2015
44
Changing the paradigm of organ utilization from PHS increased-risk donors: an opportunity whose time has come? ( 26201610 )
2015
45
Antibacterial and dissolution ability of sodium hypochlorite in different pHs on multi-species biofilms. ( 25715919 )
2015
46
Effects of pHs on properties of bio-nanocomposite based on tilapia skin gelatin and Cloisite Na+. ( 25677177 )
2015
47
Self-enhanced ozonation of benzoic acid at acidic pHs. ( 25635752 )
2015
48
Mitochondrial, acidic, and cytosolic pHs determination by ³¹P NMR spectroscopy: design of new sensitive targeted pH probes. ( 25634273 )
2015
49
Revealing fibrinogen monolayer conformations at different pHs: electrokinetic and colloid deposition studies. ( 25453169 )
2015
50
Unprecedented one-pot sequential thiolate substitutions under mild conditions leading to a red emissive BODIPY dye 3,5,8-tris(PhS)-BODIPY. ( 25429697 )
2015

Variations for Pallister-Hall Syndrome

ClinVar genetic disease variations for Pallister-Hall Syndrome:

6 (show top 50) (show all 436)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI3 NM_000168.5(GLI3): c.1028+15G> A single nucleotide variant Likely benign rs116842918 GRCh38 Chromosome 7, 42040023: 42040023
2 GLI3 NM_000168.5(GLI3): c.748C> T (p.Pro250Ser) single nucleotide variant Uncertain significance rs202039538 GRCh37 Chromosome 7, 42085061: 42085061
3 GLI3 NM_000168.5(GLI3): c.748C> T (p.Pro250Ser) single nucleotide variant Uncertain significance rs202039538 GRCh38 Chromosome 7, 42045462: 42045462
4 GLI3 NM_000168.5(GLI3): c.-47C> T single nucleotide variant Uncertain significance rs886062341 GRCh37 Chromosome 7, 42276574: 42276574
5 GLI3 NM_000168.5(GLI3): c.*3262A> G single nucleotide variant Likely benign rs73096902 GRCh38 Chromosome 7, 41961068: 41961068
6 GLI3 NM_000168.5(GLI3): c.*2676C> T single nucleotide variant Uncertain significance rs886062312 GRCh37 Chromosome 7, 42001252: 42001252
7 GLI3 NM_000168.5(GLI3): c.*2676C> T single nucleotide variant Uncertain significance rs886062312 GRCh38 Chromosome 7, 41961654: 41961654
8 GLI3 NM_000168.5(GLI3): c.*2666G> A single nucleotide variant Uncertain significance rs117987369 GRCh38 Chromosome 7, 41961664: 41961664
9 GLI3 NM_000168.5(GLI3): c.*2620C> G single nucleotide variant Likely benign rs56158069 GRCh38 Chromosome 7, 41961710: 41961710
10 GLI3 NM_000168.5(GLI3): c.*2620C> G single nucleotide variant Likely benign rs56158069 GRCh37 Chromosome 7, 42001308: 42001308
11 GLI3 NM_000168.5(GLI3): c.*2419T> C single nucleotide variant Uncertain significance rs886062315 GRCh38 Chromosome 7, 41961911: 41961911
12 GLI3 NM_000168.5(GLI3): c.*2419T> C single nucleotide variant Uncertain significance rs886062315 GRCh37 Chromosome 7, 42001509: 42001509
13 GLI3 NM_000168.5(GLI3): c.*2216T> C single nucleotide variant Uncertain significance rs886062317 GRCh38 Chromosome 7, 41962114: 41962114
14 GLI3 NM_000168.5(GLI3): c.*1386A> G single nucleotide variant Uncertain significance rs886062322 GRCh38 Chromosome 7, 41962944: 41962944
15 GLI3 NM_000168.5(GLI3): c.*1386A> G single nucleotide variant Uncertain significance rs886062322 GRCh37 Chromosome 7, 42002542: 42002542
16 GLI3 NM_000168.5(GLI3): c.*1042dupT duplication Likely benign rs200076691 GRCh37 Chromosome 7, 42002886: 42002886
17 GLI3 NM_000168.5(GLI3): c.*835G> A single nucleotide variant Likely benign rs73688609 GRCh37 Chromosome 7, 42003093: 42003093
18 GLI3 NM_000168.5(GLI3): c.*835G> A single nucleotide variant Likely benign rs73688609 GRCh38 Chromosome 7, 41963495: 41963495
19 GLI3 NM_000168.5(GLI3): c.*512C> T single nucleotide variant Uncertain significance rs886062330 GRCh38 Chromosome 7, 41963818: 41963818
20 GLI3 NM_000168.5(GLI3): c.4510A> C (p.Ile1504Leu) single nucleotide variant Benign/Likely benign rs145419251 GRCh37 Chromosome 7, 42004161: 42004161
21 GLI3 NM_000168.5(GLI3): c.3598C> G (p.His1200Asp) single nucleotide variant Benign/Likely benign rs145069572 GRCh38 Chromosome 7, 41965475: 41965475
22 GLI3 NM_000168.5(GLI3): c.1843A> T (p.Thr615Ser) single nucleotide variant Likely benign rs200913720 GRCh37 Chromosome 7, 42012196: 42012196
23 GLI3 NM_000168.5(GLI3): c.1843A> T (p.Thr615Ser) single nucleotide variant Likely benign rs200913720 GRCh38 Chromosome 7, 41972597: 41972597
24 GLI3 NM_000168.5(GLI3): c.474-4C> T single nucleotide variant Benign/Likely benign rs74536326 GRCh37 Chromosome 7, 42088299: 42088299
25 GLI3 NM_000168.5(GLI3): c.341G> A (p.Arg114Lys) single nucleotide variant Benign/Likely benign rs146458902 GRCh37 Chromosome 7, 42187851: 42187851
26 GLI3 NM_000168.5(GLI3): c.-42-11G> C single nucleotide variant Benign rs80019165 GRCh38 Chromosome 7, 42223306: 42223306
27 GLI3 NM_000168.5(GLI3): c.272A> G (p.His91Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 42148321: 42148321
28 GLI3 NM_000168.5(GLI3): c.272A> G (p.His91Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 42187920: 42187920
29 GLI3 NM_000168.5(GLI3): c.1451G> A (p.Trp484Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 42063113: 42063113
30 GLI3 NM_000168.5(GLI3): c.1451G> A (p.Trp484Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 42023514: 42023514
31 GLI3 NM_000168.5(GLI3): c.3509C> G (p.Ala1170Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 42005162: 42005162
32 GLI3 NM_000168.5(GLI3): c.3509C> G (p.Ala1170Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 41965564: 41965564
33 GLI3 NM_000168.5(GLI3): c.4498G> T (p.Glu1500Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 42004173: 42004173
34 GLI3 NM_000168.5(GLI3): c.4498G> T (p.Glu1500Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 41964575: 41964575
35 GLI3 NC_000007.14: g.(?_42048471)_(42148488_?)del deletion Uncertain significance GRCh38 Chromosome 7, 42048471: 42148488
36 GLI3 NC_000007.14: g.(?_42048471)_(42148488_?)del deletion Uncertain significance GRCh37 Chromosome 7, 42088070: 42188087
37 GLI3 NM_000168.5(GLI3): c.3284A> G (p.Asp1095Gly) single nucleotide variant Uncertain significance rs1554304659 GRCh37 Chromosome 7, 42005387: 42005387
38 GLI3 NM_000168.5(GLI3): c.3284A> G (p.Asp1095Gly) single nucleotide variant Uncertain significance rs1554304659 GRCh38 Chromosome 7, 41965789: 41965789
39 GLI3 NM_000168.5(GLI3): c.3987C> T (p.Gly1329=) single nucleotide variant Likely benign rs145859702 GRCh38 Chromosome 7, 41965086: 41965086
40 GLI3 NM_000168.5(GLI3): c.3987C> T (p.Gly1329=) single nucleotide variant Likely benign rs145859702 GRCh37 Chromosome 7, 42004684: 42004684
41 GLI3 NM_000168.5(GLI3): c.4431dupT (p.Glu1478Terfs) duplication Pathogenic rs1057520063 GRCh38 Chromosome 7, 41964642: 41964642
42 GLI3 NM_000168.5(GLI3): c.4431dupT (p.Glu1478Terfs) duplication Pathogenic rs1057520063 GRCh37 Chromosome 7, 42004240: 42004240
43 GLI3 NM_000168.5(GLI3): c.-94C> G single nucleotide variant Benign rs112754065 GRCh37 Chromosome 7, 42276621: 42276621
44 GLI3 NM_000168.5(GLI3): c.-94C> G single nucleotide variant Benign rs112754065 GRCh38 Chromosome 7, 42237022: 42237022
45 GLI3 NM_000168.5(GLI3): c.*3392G> T single nucleotide variant Likely benign rs115519476 GRCh37 Chromosome 7, 42000536: 42000536
46 GLI3 NM_000168.5(GLI3): c.*3392G> T single nucleotide variant Likely benign rs115519476 GRCh38 Chromosome 7, 41960938: 41960938
47 GLI3 NM_000168.5(GLI3): c.-68G> A single nucleotide variant Likely benign rs113629469 GRCh37 Chromosome 7, 42276595: 42276595
48 GLI3 NM_000168.5(GLI3): c.-68G> A single nucleotide variant Likely benign rs113629469 GRCh38 Chromosome 7, 42236996: 42236996
49 GLI3 NM_000168.5(GLI3): c.-42-11G> C single nucleotide variant Benign rs80019165 GRCh37 Chromosome 7, 42262905: 42262905
50 GLI3 NM_000168.5(GLI3): c.-3A> G single nucleotide variant Uncertain significance rs886062340 GRCh37 Chromosome 7, 42262855: 42262855

Expression for Pallister-Hall Syndrome

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

Pathways for Pallister-Hall Syndrome

Pathways related to Pallister-Hall Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Pallister-Hall Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.46 GLI1 GLI2 GLI3 KIF7
2 axoneme GO:0005930 9.43 GLI1 GLI2 GLI3
3 ciliary base GO:0097546 9.13 GLI1 GLI2 GLI3
4 ciliary tip GO:0097542 8.92 GLI1 GLI2 GLI3 KIF7

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

(show top 50) (show all 76)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.98 GLI2 GLI3 IGF1 SHH
2 positive regulation of cell proliferation GO:0008284 9.98 GLI1 GLI2 IGF1 SHH
3 positive regulation of transcription, DNA-templated GO:0045893 9.97 GLI1 GLI2 GLI3 IGF1 SHH
4 cell proliferation GO:0008283 9.91 GLI2 IGF1 SHH
5 negative regulation of gene expression GO:0010629 9.9 IGF1 MKKS SHH
6 regulation of gene expression GO:0010468 9.88 GLI3 IGF1 SHH
7 axon guidance GO:0007411 9.88 GLI2 GLI3 SHH
8 heart development GO:0007507 9.88 GLI2 GLI3 MKKS SHH
9 negative regulation of canonical Wnt signaling pathway GO:0090090 9.84 GLI1 GLI3 SHH
10 kidney development GO:0001822 9.82 GLI2 GLI3 SHH
11 anterior/posterior pattern specification GO:0009952 9.82 GLI2 GLI3 SHH
12 pattern specification process GO:0007389 9.8 GLI2 GLI3 SHH
13 embryonic digit morphogenesis GO:0042733 9.79 GLI2 GLI3 SHH
14 odontogenesis of dentin-containing tooth GO:0042475 9.79 GLI2 GLI3 SHH
15 canonical Wnt signaling pathway GO:0060070 9.75 GLI1 SHH
16 determination of left/right symmetry GO:0007368 9.75 MKKS SHH
17 forebrain development GO:0030900 9.75 GLI3 SHH
18 hippocampus development GO:0021766 9.75 GLI3 MKKS
19 camera-type eye development GO:0043010 9.75 GLI3 SHH
20 roof of mouth development GO:0060021 9.74 GLI3 SHH
21 negative regulation of cell differentiation GO:0045596 9.74 GLI3 SHH
22 heart looping GO:0001947 9.74 MKKS SHH
23 positive regulation of osteoblast differentiation GO:0045669 9.74 GLI3 IGF1
24 embryonic limb morphogenesis GO:0030326 9.74 GLI3 SHH
25 inner ear development GO:0048839 9.74 GLI3 SHH
26 neural tube development GO:0021915 9.73 GLI2 GLI3
27 branching involved in ureteric bud morphogenesis GO:0001658 9.73 GLI3 SHH
28 limb development GO:0060173 9.73 GLI3 SHH
29 liver regeneration GO:0097421 9.73 GLI1 GLI3
30 mammary gland development GO:0030879 9.73 GLI2 GLI3
31 metanephros development GO:0001656 9.73 GLI3 SHH
32 embryonic organ development GO:0048568 9.72 GLI3 SHH
33 positive regulation of protein import into nucleus GO:0042307 9.72 GLI3 SHH
34 oligodendrocyte differentiation GO:0048709 9.72 GLI3 SHH
35 T cell differentiation in thymus GO:0033077 9.72 GLI3 SHH
36 positive regulation of smoothened signaling pathway GO:0045880 9.72 GLI1 KIF7 SHH
37 neuron fate commitment GO:0048663 9.71 GLI3 SHH
38 pituitary gland development GO:0021983 9.71 GLI1 GLI2
39 positive regulation of DNA replication GO:0045740 9.71 GLI1 GLI2
40 negative regulation of smoothened signaling pathway GO:0045879 9.71 GLI3 KIF7
41 developmental growth GO:0048589 9.71 GLI2 GLI3 SHH
42 lung development GO:0030324 9.71 GLI1 GLI2 GLI3 SHH
43 regulation of smoothened signaling pathway GO:0008589 9.7 GLI1 GLI2
44 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 SHH
45 hindbrain development GO:0030902 9.7 GLI2 SHH
46 branching morphogenesis of an epithelial tube GO:0048754 9.7 GLI2 GLI3 SHH
47 myoblast differentiation GO:0045445 9.69 IGF1 SHH
48 osteoblast development GO:0002076 9.69 GLI2 SHH
49 embryonic digestive tract development GO:0048566 9.69 GLI2 GLI3
50 anatomical structure development GO:0048856 9.69 GLI2 GLI3 SHH

Molecular functions related to Pallister-Hall Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.13 GLI1 GLI2 GLI3
2 chromatin binding GO:0003682 8.8 GLI1 GLI2 GLI3

Sources for Pallister-Hall Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....