PHS
MCID: PLL001
MIFTS: 64

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 57 12 24 53 25 75 37 29 13 55 6 44 15 40 73
Phs 57 53 25 75
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 57 53
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 75
Pallister Hall Syndrome 53
Hall-Pallister Syndrome 25
Pallisterhall Syndrome 76
Phy 76

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
variable severity


HPO:

32
pallister-hall syndrome:
Mortality/Aging neonatal death
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance No instances of incomplete penetrance of phs have been published...

Classifications:



Summaries for Pallister-Hall Syndrome

NIH Rare Diseases : 53 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, skin and kidney, and related phenotypes are macrocephaly and hypertelorism

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 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 635)
# Related Disease Score Top Affiliating Genes
1 culler-jones syndrome 32.6 GLI3 GLI2
2 mckusick-kaufman syndrome 30.3 MKKS GLI3
3 hydrolethalus syndrome 1 30.2 SHH KIF7
4 hypopituitarism 30.2 IGF1 GLI2
5 polydactyly 30.0 SHH MKKS GLI3 GLI2
6 greig cephalopolysyndactyly syndrome 30.0 SHH KIF7 GLI3 GLI2
7 esophageal atresia 29.7 SHH GLI3 GLI2
8 tracheoesophageal fistula 29.2 SHH GLI3
9 brain cancer 29.1 SHH GLI3 GLI1
10 hypothalamic hamartomas 11.8
11 pulmonary hypertension 11.7
12 paroxysmal hemicrania 11.7
13 leukemia, chronic myeloid 11.3
14 hyperoxaluria, primary, type iii 11.3
15 metabolic acidosis 11.3
16 lactic acidosis 11.3
17 helicobacter pylori infection 11.3
18 renal tubular acidosis, distal 11.3
19 bartter disease 11.3
20 hyperphenylalaninemia, bh4-deficient, d 11.2
21 acid sphingomyelinase deficiency 11.1
22 pitt-hopkins syndrome 11.1
23 renal tubular acidosis, distal, autosomal dominant 11.0
24 gitelman syndrome 11.0
25 smith-lemli-opitz syndrome 11.0
26 hyperuricemia 11.0
27 alzheimer disease 10.5
28 leukemia 10.5
29 gastroesophageal reflux 10.5
30 anus, imperforate 10.5
31 lung cancer 10.5
32 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
33 lymphocytic leukemia 10.4
34 myeloid leukemia 10.3
35 leukemia, acute lymphoblastic 10.3
36 renal hypodysplasia/aplasia 1 10.2
37 corpus callosum, agenesis of, with abnormal genitalia 10.2
38 hydronephrosis 10.2
39 hypoparathyroidism 10.2
40 epilepsy 10.2
41 infantile epileptic encephalopathy 10.2
42 orofaciodigital syndrome 10.2
43 pituitary hypoplasia 10.2
44 pontocerebellar hypoplasia 10.2
45 hypoxia 10.1
46 esophagitis 10.1
47 acute lymphocytic leukemia 10.1
48 cystic fibrosis 10.1
49 nodular medulloblastoma 10.1 GLI2 GLI1
50 peptic esophagitis 10.1

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



Diseases related to Pallister-Hall Syndrome

Symptoms & Phenotypes for Pallister-Hall Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pallister-Hall Syndrome:

32 (show top 50) (show all 118)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 frequent (33%) HP:0000256
2 hypertelorism 32 frequent (33%) HP:0000316
3 ptosis 32 frequent (33%) HP:0000508
4 precocious puberty 32 occasional (7.5%) HP:0000826
5 intellectual disability 32 very rare (1%) HP:0001249
6 seizures 32 HP:0001250
7 respiratory insufficiency 32 very rare (1%) HP:0002093
8 inguinal hernia 32 occasional (7.5%) HP:0000023
9 global developmental delay 32 very rare (1%) HP:0001263
10 skeletal dysplasia 32 frequent (33%) HP:0002652
11 depressed nasal bridge 32 occasional (7.5%) HP:0005280
12 umbilical hernia 32 occasional (7.5%) HP:0001537
13 short nose 32 frequent (33%) HP:0003196
14 microtia 32 very rare (1%) HP:0008551
15 anteverted nares 32 occasional (7.5%) HP:0000463
16 short stature 32 frequent (33%) HP:0004322
17 broad thumb 32 frequent (33%) HP:0011304
18 cleft palate 32 occasional (7.5%) HP:0000175
19 ectopic kidney 32 occasional (7.5%) HP:0000086
20 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
21 cryptorchidism 32 occasional (7.5%) HP:0000028
22 intrauterine growth retardation 32 frequent (33%) HP:0001511
23 short 4th metacarpal 32 occasional (7.5%) HP:0010044
24 atrial septal defect 32 occasional (7.5%) HP:0001631
25 coarctation of aorta 32 occasional (7.5%) HP:0001680
26 primary adrenal insufficiency 32 occasional (7.5%) HP:0008207
27 hip dislocation 32 frequent (33%) HP:0002827
28 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
29 depressed nasal ridge 32 frequent (33%) HP:0000457
30 microphthalmia 32 very rare (1%) HP:0000568
31 hypospadias 32 occasional (7.5%) HP:0000047
32 decreased testicular size 32 occasional (7.5%) HP:0008734
33 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
34 downslanted palpebral fissures 32 frequent (33%) HP:0000494
35 brachydactyly 32 frequent (33%) HP:0001156
36 anal atresia 32 frequent (33%) HP:0002023
37 renal hypoplasia 32 HP:0000089
38 choanal atresia 32 occasional (7.5%) HP:0000453
39 ventricular septal defect 32 occasional (7.5%) HP:0001629
40 arrhinencephaly 32 very rare (1%) HP:0002139
41 nail dysplasia 32 frequent (33%) HP:0002164
42 oligohydramnios 32 very rare (1%) HP:0001562
43 holoprosencephaly 32 occasional (7.5%) HP:0001360
44 abnormal basal ganglia mri signal intensity 32 frequent (33%) HP:0012751
45 hemivertebrae 32 very rare (1%) HP:0002937
46 microretrognathia 32 occasional (7.5%) HP:0000308
47 ambiguous genitalia 32 very rare (1%) HP:0000062
48 toe syndactyly 32 occasional (7.5%) HP:0001770
49 cleft upper lip 32 occasional (7.5%) HP:0000204
50 hydronephrosis 32 HP:0000126

MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

46 (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 29 GLI3

Anatomical Context for Pallister-Hall Syndrome

MalaCards organs/tissues related to Pallister-Hall Syndrome:

41
Pituitary, Skin, Kidney, Heart, Brain, Testes, Thyroid

Publications for Pallister-Hall Syndrome

Articles related to Pallister-Hall Syndrome:

(show top 50) (show all 457)
# Title Authors Year
1
Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome. ( 28429635 )
2018
2
Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas. ( 29368652 )
2018
3
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
4
Bifid epiglottis, high-arched palate, and mental disorder in a patient with Pallister-Hall syndrome. ( 30443073 )
2018
5
A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma. ( 30455963 )
2018
6
Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report. ( 30486853 )
2018
7
Sucrose Octaacetate Chemical Kinetics and Shelf Lives at Various Formulation pHs. ( 28646247 )
2018
8
Metal leachability from coal combustion residuals under different pHs and liquid/solid ratios. ( 28768222 )
2018
9
Phosphorus dissolution from dewatered anaerobic sludge: Effect of pHs, microorganisms, and sequential extraction. ( 29065329 )
2018
10
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
11
Preferential adhesion of surface groups of Bacillus subtilis on gibbsite at different ionic strengths and pHs revealed by ATR-FTIR spectroscopy. ( 29459260 )
2018
12
Structural and photodynamic properties of the anti-cancer drug irinotecan in aqueous solutions of different pHs. ( 29761192 )
2018
13
Catalytic oxidation of arsenite and reaction pathways on the surface of CuO nanoparticles at a wide range of pHs. ( 29934914 )
2018
14
A Study on Microstructure and Properties of PHS Fiber Laser Welded Joints Obtained in Air Atmospheres. ( 29973536 )
2018
15
The association between wet-bulb globe temperature and other thermal indices (DI, MDI, PMV, PPD, PHS, PSI and PSIhr): a field study. ( 29993343 )
2018
16
Protein-Resistant Property of Egg White Ovomucin under Different pHs and Ionic Strengths. ( 30277391 )
2018
17
Pallister-Hall Syndrome. ( 29204208 )
2017
18
Single temperature liquefaction process at different operating pHs to improve ethanol production from Indian rice and corn feedstock. ( 27737626 )
2017
19
The "PHS Increased Risk" Label Is Associated With Nonutilization of Hundreds of Organs per Year. ( 28196048 )
2017
20
Deceased Organ Donors and PHS Risk Identification: Impact on Organ Usage and Outcomes. ( 28252560 )
2017
21
Anthocyanin condensed forms do not affect color or chemical stability of purple corn pericarp extracts stored under different pHs. ( 28490122 )
2017
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
The early history of Pallister-Hall syndrome-Buried treasure of a sort. ( 26768579 )
2016
25
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. ( 26604140 )
2016
26
Bifid epiglottis in a patient with Pallister-Hall syndrome. ( 27339091 )
2016
27
On the Effect of Thermophysical Properties of Clothing on the Heat Strain Predicted by PHS Model. ( 26420266 )
2016
28
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
29
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
30
Self-organization of gliadin in aqueous media under physiological digestive pHs. ( 26897550 )
2016
31
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
32
Tailoring of global transcription sigma D factor by random mutagenesis to improve Escherichia coli tolerance towards low-pHs. ( 26971973 )
2016
33
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
34
High Laccase Expression by Trametes versicolor in a Simulated Textile Effluent with Different Carbon Sources and PHs. ( 27490563 )
2016
35
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768 )
2015
36
Unprecedented one-pot sequential thiolate substitutions under mild conditions leading to a red emissive BODIPY dye 3,5,8-tris(PhS)-BODIPY. ( 25429697 )
2015
37
Revealing fibrinogen monolayer conformations at different pHs: electrokinetic and colloid deposition studies. ( 25453169 )
2015
38
Mitochondrial, acidic, and cytosolic pHs determination by ³¹P NMR spectroscopy: design of new sensitive targeted pH probes. ( 25634273 )
2015
39
Self-enhanced ozonation of benzoic acid at acidic pHs. ( 25635752 )
2015
40
Effects of pHs on properties of bio-nanocomposite based on tilapia skin gelatin and Cloisite Na+. ( 25677177 )
2015
41
Antibacterial and dissolution ability of sodium hypochlorite in different pHs on multi-species biofilms. ( 25715919 )
2015
42
Changing the paradigm of organ utilization from PHS increased-risk donors: an opportunity whose time has come? ( 26201610 )
2015
43
Independent mis-splicing mutations in TaPHS1 causing loss of preharvest sprouting (PHS) resistance during wheat domestication. ( 26255630 )
2015
44
Phenylalanine interaction with lipid monolayers at different pHs. ( 26283499 )
2015
45
Patterns of Care For Metastatic Pancreatic Cancer: Real World Data From The Brazilian Private Health System (Phs). ( 26534401 )
2015
46
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
47
Pallister-Hall syndrome has gone the way of modern medical genetics. ( 25424727 )
2014
48
Volatile fatty acids (VFAs) accumulation and microbial community structure of excess sludge (ES) at different pHs. ( 24291313 )
2014
49
Colour and antioxidant capacity stability in grape, strawberry and plum peel model juices at different pHs and temperatures. ( 24518333 )
2014
50
Aqueous poly(amidoamine) dendrimer G3 and G4 generations with several interior cores at pHs 5 and 7: a molecular dynamics simulation study. ( 24588382 )
2014

Variations for Pallister-Hall Syndrome

ClinVar genetic disease variations for Pallister-Hall Syndrome:

6 (show top 50) (show all 432)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI3 NM_000168.5(GLI3): c.2023delG (p.Glu675Serfs) deletion Pathogenic rs116840744 GRCh37 Chromosome 7, 42012016: 42012016
2 GLI3 NM_000168.5(GLI3): c.2023delG (p.Glu675Serfs) deletion Pathogenic rs116840744 GRCh38 Chromosome 7, 41972417: 41972417
3 GLI3 NM_000168.5(GLI3): c.2012delG (p.Gly671Glufs) deletion Pathogenic rs116840743 GRCh37 Chromosome 7, 42012027: 42012027
4 GLI3 NM_000168.5(GLI3): c.2012delG (p.Gly671Glufs) deletion Pathogenic rs116840743 GRCh38 Chromosome 7, 41972428: 41972428
5 GLI3 NM_000168.5(GLI3): c.3439G> T (p.Glu1147Ter) single nucleotide variant Pathogenic rs116840768 GRCh37 Chromosome 7, 42005232: 42005232
6 GLI3 NM_000168.5(GLI3): c.3439G> T (p.Glu1147Ter) single nucleotide variant Pathogenic rs116840768 GRCh38 Chromosome 7, 41965634: 41965634
7 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh37 Chromosome 7, 42007446: 42007446
8 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh38 Chromosome 7, 41967848: 41967848
9 GLI3 NM_000168.5(GLI3): c.2770_2771insNC_012920.1: g.12243..12314 insertion Pathogenic GRCh37 Chromosome 7, 42005900: 42005901
10 GLI3 NM_000168.5(GLI3): c.2770_2771insNC_012920.1: g.12243..12314 insertion Pathogenic GRCh38 Chromosome 7, 41966302: 41966303
11 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh37 Chromosome 7, 42079797: 42079797
12 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh38 Chromosome 7, 42040198: 42040198
13 GLI3 NM_000168.5(GLI3): c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs) deletion Pathogenic rs116840754 GRCh37 Chromosome 7, 42007419: 42007437
14 GLI3 NM_000168.5(GLI3): c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs) deletion Pathogenic rs116840754 GRCh38 Chromosome 7, 41967821: 41967839
15 GLI3 NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser) single nucleotide variant Uncertain significance rs121917716 GRCh37 Chromosome 7, 42007506: 42007506
16 GLI3 NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser) single nucleotide variant Uncertain significance rs121917716 GRCh38 Chromosome 7, 41967908: 41967908
17 GLI3 NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter) single nucleotide variant Pathogenic rs116840747 GRCh38 Chromosome 7, 41972378: 41972378
18 GLI3 NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs) deletion Pathogenic rs116840749 GRCh37 Chromosome 7, 42007486: 42007486
19 GLI3 NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic rs116840750 GRCh38 Chromosome 7, 41967881: 41967881
20 GLI3 NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs116840751 GRCh37 Chromosome 7, 42007476: 42007476
21 GLI3 NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs) deletion Pathogenic rs116840752 GRCh38 Chromosome 7, 41967870: 41967870
22 GLI3 NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs) deletion Pathogenic rs116840755 GRCh37 Chromosome 7, 42007427: 42007428
23 GLI3 NM_000168.5(GLI3): c.3324C> G (p.Tyr1108Ter) single nucleotide variant Pathogenic rs116840766 GRCh38 Chromosome 7, 41965749: 41965749
24 GLI3 NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp) single nucleotide variant Pathogenic rs116840769 GRCh37 Chromosome 7, 42005215: 42005215
25 GLI3 NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter) single nucleotide variant Pathogenic rs116840770 GRCh38 Chromosome 7, 41965592: 41965592
26 GLI3 NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs) deletion Pathogenic rs116840752 GRCh37 Chromosome 7, 42007468: 42007468
27 GLI3 NM_000168.5(GLI3): c.2172_2173insC (p.Asn725Glnfs) insertion Pathogenic rs116840753 GRCh37 Chromosome 7, 42007453: 42007453
28 GLI3 NM_000168.5(GLI3): c.2172_2173insC (p.Asn725Glnfs) insertion Pathogenic rs116840753 GRCh38 Chromosome 7, 41967855: 41967855
29 GLI3 NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs) deletion Pathogenic rs116840755 GRCh38 Chromosome 7, 41967829: 41967830
30 GLI3 NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs) deletion Pathogenic rs116840756 GRCh37 Chromosome 7, 42007269: 42007279
31 GLI3 NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs) deletion Pathogenic rs281864935 GRCh37 Chromosome 7, 42005284: 42005285
32 GLI3 NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs) deletion Pathogenic rs281864935 GRCh38 Chromosome 7, 41965686: 41965687
33 GLI3 NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp) single nucleotide variant Pathogenic rs116840769 GRCh38 Chromosome 7, 41965617: 41965617
34 GLI3 NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter) single nucleotide variant Pathogenic rs116840770 GRCh37 Chromosome 7, 42005190: 42005190
35 GLI3 NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter) indel Pathogenic rs116840746 GRCh38 Chromosome 7, 41972381: 41972382
36 GLI3 NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter) single nucleotide variant Pathogenic rs116840748 GRCh37 Chromosome 7, 42007515: 42007515
37 GLI3 NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter) single nucleotide variant Pathogenic rs116840748 GRCh38 Chromosome 7, 41967917: 41967917
38 GLI3 NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs) deletion Pathogenic rs116840749 GRCh38 Chromosome 7, 41967888: 41967888
39 GLI3 NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter) single nucleotide variant Pathogenic rs116840747 GRCh37 Chromosome 7, 42011977: 42011977
40 GLI3 NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic rs116840750 GRCh37 Chromosome 7, 42007479: 42007479
41 GLI3 NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs116840751 GRCh38 Chromosome 7, 41967878: 41967878
42 GLI3 NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs) deletion Pathogenic rs116840742 GRCh37 Chromosome 7, 42012038: 42012041
43 GLI3 NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs) deletion Pathogenic rs116840742 GRCh38 Chromosome 7, 41972439: 41972442
44 GLI3 NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs) deletion Pathogenic rs116840745 GRCh37 Chromosome 7, 42012007: 42012007
45 GLI3 NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs) deletion Pathogenic rs116840745 GRCh38 Chromosome 7, 41972408: 41972408
46 GLI3 NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter) indel Pathogenic rs116840746 GRCh37 Chromosome 7, 42011980: 42011981
47 GLI3 NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs) deletion Pathogenic rs116840756 GRCh38 Chromosome 7, 41967671: 41967681
48 GLI3 NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs) deletion Pathogenic rs116840757 GRCh37 Chromosome 7, 42007270: 42007274
49 GLI3 NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs) deletion Pathogenic rs116840757 GRCh38 Chromosome 7, 41967672: 41967676
50 GLI3 NM_000168.5(GLI3): c.2431+1G> A single nucleotide variant Pathogenic rs116840758 GRCh37 Chromosome 7, 42007193: 42007193

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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40 LOVD
42 MedGen
44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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