MCID: PLL001
MIFTS: 58

Pallister-Hall Syndrome

Categories: Genetic diseases, Rare 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
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly 75
Pallister Hall Syndrome 53
Hall-Pallister Syndrome 25
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 anus, imperforate 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. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include pituitary, kidney and skin, and related phenotypes are macrocephaly and hypertelorism

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.

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.

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 84)
# Related Disease Score Top Affiliating Genes
1 anus, imperforate 30.7 GLI3 SHH
2 mckusick-kaufman syndrome 30.5 GLI3 MKKS
3 hypopituitarism 29.8 GLI2 IGF1
4 polydactyly 29.8 GLI3 MKKS SHH
5 greig cephalopolysyndactyly syndrome 29.4 GLI2 GLI3 KIF7
6 hypothalamic hamartomas 11.7
7 pulmonary hypertension 11.5
8 paroxysmal hemicrania 11.5
9 culler-jones syndrome 11.5
10 renal tubular acidosis, distal 11.3
11 leukemia, chronic myeloid 11.2
12 hyperoxaluria, primary, type iii 11.1
13 metabolic acidosis 11.1
14 helicobacter pylori infection 11.1
15 lactic acidosis 11.1
16 hyperphenylalaninemia, bh4-deficient, d 11.1
17 acid sphingomyelinase deficiency 11.0
18 pitt-hopkins syndrome 10.9
19 nodular medulloblastoma 10.3 GLI1 GLI2
20 holoprosencephaly 4 10.2 GLI3 SHH
21 septopreoptic holoprosencephaly 10.2 GLI2 SHH
22 midline interhemispheric variant of holoprosencephaly 10.2 GLI2 SHH
23 alobar holoprosencephaly 10.1 GLI2 SHH
24 lobar holoprosencephaly 10.1 GLI2 SHH
25 renal hypodysplasia/aplasia 1 10.1
26 hydrolethalus syndrome 1 10.1
27 smith-lemli-opitz syndrome 10.1
28 opitz gbbb syndrome, type i 10.1
29 corpus callosum, agenesis of, with abnormal genitalia 10.1
30 hypoparathyroidism 10.1
31 epilepsy 10.1
32 infantile epileptic encephalopathy 10.1
33 laryngitis 10.1
34 orofaciodigital syndrome 10.1
35 microform holoprosencephaly 10.1 GLI2 SHH
36 semilobar holoprosencephaly 10.1 GLI2 SHH
37 disuse amblyopia 10.0 GLI2 SHH
38 gastric squamous cell carcinoma 10.0 GLI1 SHH
39 bardet-biedl syndrome 17 10.0 GLI2 SHH
40 agnathia-otocephaly complex 9.9 GLI2 SHH
41 gastric tubular adenocarcinoma 9.9 GLI1 SHH
42 keratocystic odontogenic tumor 9.9 GLI1 SHH
43 sarcoma 9.9
44 malignant pleural mesothelioma 9.9
45 soft tissue sarcoma 9.9
46 central nervous system tuberculosis 9.9 GLI1 SHH
47 adult medulloblastoma 9.8 GLI1 SHH
48 tracheoesophageal fistula 9.8 GLI3 SHH
49 bardet-biedl syndrome 2 9.8 GLI1 MKKS
50 esophageal atresia 9.7 GLI2 GLI3 SHH

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism
testicular hypoplasia

Head And Neck Eyes:
microphthalmia

Skin Nails Hair Nails:
nail dysplasia

Skeletal Hands:
oligodactyly
syndactyly
postaxial polydactyly
short 4th metacarpals

Respiratory Lung:
abnormal lung lobation

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

Endocrine Features:
panhypopituitarism
adrenal gland hypoplasia
thyroid dysplasia/aplasia

Genitourinary External Genitalia Male:
micropenis

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 hemivertebrae 32 very rare (1%) HP:0002937
45 microretrognathia 32 occasional (7.5%) HP:0000308
46 ambiguous genitalia 32 very rare (1%) HP:0000062
47 toe syndactyly 32 occasional (7.5%) HP:0001770
48 cleft upper lip 32 occasional (7.5%) HP:0000204
49 hydronephrosis 32 HP:0000126
50 atresia of the external auditory canal 32 very rare (1%) HP:0000413

MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.12 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
2 growth/size/body region MP:0005378 10.07 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
3 craniofacial MP:0005382 10.04 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 GLI3 IGF1 KIF7 MKKS SHH GLI1
6 nervous system MP:0003631 10 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
7 digestive/alimentary MP:0005381 9.96 GLI1 GLI2 GLI3 KIF7 SHH
8 embryo MP:0005380 9.95 GLI1 GLI2 GLI3 KIF7 SHH
9 endocrine/exocrine gland MP:0005379 9.93 GLI2 GLI3 IGF1 SHH GLI1
10 hearing/vestibular/ear MP:0005377 9.91 GLI2 GLI3 IGF1 MKKS SHH
11 reproductive system MP:0005389 9.87 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
12 no phenotypic analysis MP:0003012 9.83 GLI1 GLI2 GLI3 KIF7 SHH
13 normal MP:0002873 9.8 GLI1 GLI2 GLI3 IGF1 SHH
14 respiratory system MP:0005388 9.8 IGF1 KIF7 MKKS SHH GLI1 GLI2
15 renal/urinary system MP:0005367 9.67 GLI1 GLI3 IGF1 SHH
16 skeleton MP:0005390 9.55 GLI2 GLI3 IGF1 KIF7 SHH
17 taste/olfaction MP:0005394 9.13 GLI3 MKKS SHH
18 vision/eye MP:0005391 9.02 GLI2 GLI3 KIF7 MKKS SHH

Drugs & Therapeutics for Pallister-Hall Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

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, Kidney, Skin, Brain, Heart, Testes, Thyroid

Publications for Pallister-Hall Syndrome

Articles related to Pallister-Hall Syndrome:

(show top 50) (show all 65)
# 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
Pallister-Hall Syndrome. ( 29204208 )
2017
4
The early history of Pallister-Hall syndrome-Buried treasure of a sort. ( 26768579 )
2016
5
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. ( 26604140 )
2016
6
Bifid epiglottis in a patient with Pallister-Hall syndrome. ( 27339091 )
2016
7
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768 )
2015
8
Pallister-Hall syndrome has gone the way of modern medical genetics. ( 25424727 )
2014
9
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. ( 23950073 )
2013
10
Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation. ( 22499313 )
2012
11
Cochlear abnormality in a case of Pallister-Hall syndrome. ( 22890695 )
2012
12
Teaching NeuroImages: isolated hypothalamic hamartoma vs Pallister-Hall syndrome: imaging and clinical correlation. ( 22927681 )
2012
13
Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister-Hall syndrome. ( 21636348 )
2011
14
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome. ( 19793630 )
2010
15
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. ( 21108399 )
2010
16
Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome. ( 20004865 )
2010
17
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. ( 19449422 )
2009
18
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. ( 18478223 )
2008
19
Genitourinary malformations as a feature of the Pallister-Hall syndrome. ( 16531732 )
2006
20
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. ( 15617553 )
2005
21
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. ( 15739154 )
2005
22
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. ( 15660767 )
2005
23
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. ( 16007608 )
2005
24
Pallister-Hall syndrome with hypoparathyroidism. ( 15237717 )
2004
25
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. ( 15046066 )
2004
26
Gonadal mosaicism in severe Pallister-Hall syndrome. ( 14708104 )
2004
27
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. ( 12575661 )
2003
28
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. ( 14523835 )
2003
29
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. ( 12773293 )
2003
30
Gli 3 mutation in Pallister-Hall syndrome. ( 12017244 )
2002
31
Pallister-Hall syndrome phenotype in mice mutant for Gli3. ( 11978771 )
2002
32
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. ( 11241471 )
2001
33
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. ( 11693785 )
2001
34
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. ( 11305791 )
2001
35
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. ( 10945658 )
2000
36
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. ( 10982485 )
2000
37
Pallister-Hall syndrome: clinical and MR features. ( 10588106 )
1999
38
Pallister-Hall syndrome. ( 9615516 )
1998
39
Pallister-Hall syndrome. ( 9807095 )
1998
40
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. ( 9192261 )
1997
41
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. ( 9054938 )
1997
42
Pallister-Hall syndrome. ( 8818945 )
1996
43
Report from the workshop on Pallister-Hall syndrome and related phenotypes. ( 8914745 )
1996
44
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. ( 8950676 )
1996
45
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? ( 7760322 )
1995
46
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. ( 7473651 )
1995
47
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. ( 8591673 )
1995
48
Hypothalamic hamartoma and the Pallister-Hall syndrome. ( 7577664 )
1995
49
The Pallister-Hall syndrome. ( 7815447 )
1994
50
Recurrence of Pallister-Hall syndrome in two sibs. ( 8182722 )
1994

Variations for Pallister-Hall Syndrome

ClinVar genetic disease variations for Pallister-Hall Syndrome:

6
(show top 50) (show all 404)
# 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.2770_2771insNC_012920.1: g.12243..12314 insertion Pathogenic GRCh37 Chromosome 7, 42005900: 42005901
8 GLI3 NM_000168.5(GLI3): c.2770_2771insNC_012920.1: g.12243..12314 insertion Pathogenic GRCh38 Chromosome 7, 41966302: 41966303
9 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh37 Chromosome 7, 42079797: 42079797
10 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh38 Chromosome 7, 42040198: 42040198
11 GLI3 NM_000168.5(GLI3): c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs) deletion Pathogenic rs116840754 GRCh37 Chromosome 7, 42007419: 42007437
12 GLI3 NM_000168.5(GLI3): c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs) deletion Pathogenic rs116840754 GRCh38 Chromosome 7, 41967821: 41967839
13 GLI3 NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs) deletion Pathogenic rs116840755 GRCh37 Chromosome 7, 42007427: 42007428
14 GLI3 NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs) deletion Pathogenic rs281864935 GRCh37 Chromosome 7, 42005284: 42005285
15 GLI3 NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs) deletion Pathogenic rs281864935 GRCh38 Chromosome 7, 41965686: 41965687
16 GLI3 NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter) single nucleotide variant Pathogenic rs116840770 GRCh38 Chromosome 7, 41965592: 41965592
17 GLI3 NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs) deletion Pathogenic rs116840755 GRCh38 Chromosome 7, 41967829: 41967830
18 GLI3 NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs) deletion Pathogenic rs116840756 GRCh37 Chromosome 7, 42007269: 42007279
19 GLI3 NM_000168.5(GLI3): c.3324C> G (p.Tyr1108Ter) single nucleotide variant Pathogenic rs116840766 GRCh38 Chromosome 7, 41965749: 41965749
20 GLI3 NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp) single nucleotide variant Pathogenic rs116840769 GRCh37 Chromosome 7, 42005215: 42005215
21 GLI3 NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp) single nucleotide variant Pathogenic rs116840769 GRCh38 Chromosome 7, 41965617: 41965617
22 GLI3 NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter) single nucleotide variant Pathogenic rs116840770 GRCh37 Chromosome 7, 42005190: 42005190
23 GLI3 NM_000168.5(GLI3): c.2172_2173insC (p.Asn725Glnfs) insertion Pathogenic rs116840753 GRCh38 Chromosome 7, 41967855: 41967855
24 GLI3 NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs) deletion Pathogenic rs116840742 GRCh37 Chromosome 7, 42012038: 42012041
25 GLI3 NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs) deletion Pathogenic rs116840742 GRCh38 Chromosome 7, 41972439: 41972442
26 GLI3 NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs) deletion Pathogenic rs116840745 GRCh37 Chromosome 7, 42012007: 42012007
27 GLI3 NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs) deletion Pathogenic rs116840745 GRCh38 Chromosome 7, 41972408: 41972408
28 GLI3 NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter) indel Pathogenic rs116840746 GRCh37 Chromosome 7, 42011980: 42011981
29 GLI3 NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter) indel Pathogenic rs116840746 GRCh38 Chromosome 7, 41972381: 41972382
30 GLI3 NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter) single nucleotide variant Pathogenic rs116840747 GRCh37 Chromosome 7, 42011977: 42011977
31 GLI3 NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter) single nucleotide variant Pathogenic rs116840747 GRCh38 Chromosome 7, 41972378: 41972378
32 GLI3 NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter) single nucleotide variant Pathogenic rs116840748 GRCh37 Chromosome 7, 42007515: 42007515
33 GLI3 NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter) single nucleotide variant Pathogenic rs116840748 GRCh38 Chromosome 7, 41967917: 41967917
34 GLI3 NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs) deletion Pathogenic rs116840749 GRCh37 Chromosome 7, 42007486: 42007486
35 GLI3 NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs) deletion Pathogenic rs116840749 GRCh38 Chromosome 7, 41967888: 41967888
36 GLI3 NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic rs116840750 GRCh37 Chromosome 7, 42007479: 42007479
37 GLI3 NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic rs116840750 GRCh38 Chromosome 7, 41967881: 41967881
38 GLI3 NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs116840751 GRCh37 Chromosome 7, 42007476: 42007476
39 GLI3 NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs116840751 GRCh38 Chromosome 7, 41967878: 41967878
40 GLI3 NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs) deletion Pathogenic rs116840752 GRCh37 Chromosome 7, 42007468: 42007468
41 GLI3 NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs) deletion Pathogenic rs116840752 GRCh38 Chromosome 7, 41967870: 41967870
42 GLI3 NM_000168.5(GLI3): c.2172_2173insC (p.Asn725Glnfs) insertion Pathogenic rs116840753 GRCh37 Chromosome 7, 42007453: 42007453
43 GLI3 NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs) deletion Pathogenic rs116840756 GRCh38 Chromosome 7, 41967671: 41967681
44 GLI3 NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs) deletion Pathogenic rs116840757 GRCh37 Chromosome 7, 42007270: 42007274
45 GLI3 NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs) deletion Pathogenic rs116840757 GRCh38 Chromosome 7, 41967672: 41967676
46 GLI3 NM_000168.5(GLI3): c.2431+1G> A single nucleotide variant Pathogenic rs116840758 GRCh37 Chromosome 7, 42007193: 42007193
47 GLI3 NM_000168.5(GLI3): c.2431+1G> A single nucleotide variant Pathogenic rs116840758 GRCh38 Chromosome 7, 41967595: 41967595
48 GLI3 NM_000168.5(GLI3): c.2483delC (p.Pro828Argfs) deletion Pathogenic rs116840759 GRCh37 Chromosome 7, 42006188: 42006188
49 GLI3 NM_000168.5(GLI3): c.2483delC (p.Pro828Argfs) deletion Pathogenic rs116840759 GRCh38 Chromosome 7, 41966590: 41966590
50 GLI3 NM_000168.5(GLI3): c.2567C> A (p.Ser856Ter) single nucleotide variant Pathogenic rs116840760 GRCh37 Chromosome 7, 42006104: 42006104

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 74)
# 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 9.92 GLI2 IGF1 SHH
5 heart development GO:0007507 9.91 GLI2 GLI3 MKKS SHH
6 regulation of gene expression GO:0010468 9.89 GLI3 IGF1 SHH
7 axon guidance GO:0007411 9.88 GLI2 GLI3 SHH
8 negative regulation of canonical Wnt signaling pathway GO:0090090 9.87 GLI1 GLI3 SHH
9 kidney development GO:0001822 9.83 GLI2 GLI3 SHH
10 anterior/posterior pattern specification GO:0009952 9.82 GLI2 GLI3 SHH
11 embryonic digit morphogenesis GO:0042733 9.8 GLI2 GLI3 SHH
12 odontogenesis of dentin-containing tooth GO:0042475 9.8 GLI2 GLI3 SHH
13 pattern specification process GO:0007389 9.79 GLI2 GLI3 SHH
14 roof of mouth development GO:0060021 9.75 GLI3 SHH
15 determination of left/right symmetry GO:0007368 9.75 MKKS SHH
16 forebrain development GO:0030900 9.75 GLI3 SHH
17 negative regulation of cell differentiation GO:0045596 9.74 GLI3 SHH
18 camera-type eye development GO:0043010 9.74 GLI3 SHH
19 hippocampus development GO:0021766 9.74 GLI3 MKKS
20 heart looping GO:0001947 9.74 MKKS SHH
21 positive regulation of osteoblast differentiation GO:0045669 9.74 GLI3 IGF1
22 embryonic limb morphogenesis GO:0030326 9.74 GLI3 SHH
23 positive regulation of DNA replication GO:0045740 9.74 GLI1 GLI2 IGF1
24 inner ear development GO:0048839 9.73 GLI3 SHH
25 neural tube development GO:0021915 9.73 GLI2 GLI3
26 branching involved in ureteric bud morphogenesis GO:0001658 9.73 GLI3 SHH
27 limb development GO:0060173 9.73 GLI3 SHH
28 embryonic organ development GO:0048568 9.73 GLI3 SHH
29 metanephros development GO:0001656 9.73 GLI3 SHH
30 lung development GO:0030324 9.73 GLI1 GLI2 GLI3 SHH
31 liver regeneration GO:0097421 9.72 GLI1 GLI3
32 mammary gland development GO:0030879 9.72 GLI2 GLI3
33 oligodendrocyte differentiation GO:0048709 9.72 GLI3 SHH
34 pituitary gland development GO:0021983 9.72 GLI1 GLI2
35 anatomical structure development GO:0048856 9.72 GLI2 GLI3 SHH
36 T cell differentiation in thymus GO:0033077 9.71 GLI3 SHH
37 neuron fate commitment GO:0048663 9.71 GLI3 SHH
38 positive regulation of protein import into nucleus GO:0042307 9.71 GLI3 SHH
39 negative regulation of smoothened signaling pathway GO:0045879 9.71 GLI3 KIF7
40 positive regulation of smoothened signaling pathway GO:0045880 9.71 GLI1 KIF7 SHH
41 smoothened signaling pathway GO:0007224 9.71 GLI1 GLI2 GLI3 SHH
42 regulation of smoothened signaling pathway GO:0008589 9.7 GLI1 GLI2
43 hindbrain development GO:0030902 9.7 GLI2 SHH
44 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 SHH
45 myoblast differentiation GO:0045445 9.7 IGF1 SHH
46 branching morphogenesis of an epithelial tube GO:0048754 9.7 GLI2 GLI3 SHH
47 embryonic digestive tract morphogenesis GO:0048557 9.69 GLI3 SHH
48 osteoblast development GO:0002076 9.69 GLI2 SHH
49 developmental growth GO:0048589 9.69 GLI2 GLI3 SHH
50 embryonic digestive tract development GO:0048566 9.68 GLI2 GLI3

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

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