PHS
MCID: PLL001
MIFTS: 55

Pallister-Hall Syndrome (PHS) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pallister-Hall Syndrome

Aliases & Descriptions for Pallister-Hall Syndrome:

Name: Pallister-Hall Syndrome 54 12 23 50 24 25 66 13 52 42 14 69
Phs 50 25 66
Hall-Pallister Syndrome 25 29
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 50
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly 66
Pallister Hall Syndrome 50

Characteristics:

GeneReviews:

23
pallister-hall syndrome:
Mortality/Aging neonatal death
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


GeneReviews:

23
Penetrance No instances of incomplete penetrance of phs have been published...

Classifications:



External Ids:

OMIM 54 146510
Disease Ontology 12 DOID:9248
MeSH 42 D054975
NCIt 47 C84987
SNOMED-CT 64 56677004
MedGen 40 C0265220
UMLS 69 C0265220

Summaries for Pallister-Hall Syndrome

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.

MalaCards based summary : Pallister-Hall Syndrome, also known as phs, is related to hypothalamic hamartomas and pulmonary hypertension, and has symptoms including seizures, precocious puberty and depressed nasal bridge. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Pathways in cancer and Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include skin, brain and pituitary, and related phenotypes are cellular and growth/size/body region

NIH Rare Diseases : 50 pallister-hall syndrome is a condition 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 bifid epiglottis (a malformation of the airway). pallister-hall syndrome is caused by mutations in the gli3 gene. it is inherited in an autosomal dominant manner. individuals with the condition may have an affected parent or they may have pallister-hall syndrome as the result of a new (de novo) mutation. treatment is based on the signs and symptoms in each individual and may require the coordinated efforts of a team of doctors.  last updated: 6/14/2016

OMIM : 54 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary... (146510) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 53)
id Related Disease Score Top Affiliating Genes
1 hypothalamic hamartomas 11.6
2 pulmonary hypertension 11.4
3 lactic acidosis 11.2
4 culler-jones syndrome 11.1
5 hyperoxaluria, primary, type iii 11.0
6 metabolic acidosis 11.0
7 h. pylori infection 11.0
8 hyperphenylalaninemia, bh4-deficient, d 10.9
9 acid sphingomyelinase deficiency 10.8
10 pitt-hopkins syndrome 10.8
11 leukemia, chronic myeloid, somatic 10.7
12 imperforate anus 10.3
13 polydactyly 10.2
14 intestinal pseudo-obstruction 10.1 GLI1 GLI2
15 anosmia, isolated congenital 10.1 GLI3 SHH
16 tricho odonto onychodysplasia syndactyly dominant type 10.1 GLI3 SHH
17 intellectual developmental disorder with persistence of fetal hemoglobin 10.1 GLI2 GLI3 KIF7
18 polydactyly, preaxial, type iv 10.1 GLI2 GLI3 KIF7
19 colorectal cancer, hereditary nonpolyposis, type 2 10.1 GLI2 SHH
20 epileptic encephalopathy, early infantile, 12 10.1 GLI3 MKKS
21 secondary hypertrophic osteoarthropathy 10.1 GLI2 SHH
22 anal squamous cell carcinoma 10.1 GLI1 SHH
23 hypoparathyroidism 10.0
24 epilepsy 10.0
25 laryngitis 10.0
26 hypopituitarism 10.0
27 smith-lemli-opitz syndrome 10.0
28 hydrolethalus syndrome 10.0
29 mckusick-kaufman syndrome 10.0
30 childhood central nervous system primitive neuroectodermal neoplasm 10.0 GLI1 SHH
31 adrenal cortical hypofunction 10.0 GLI2 GLI3 SHH
32 macular degeneration, age-related, 1 10.0 GLI2 SHH
33 vaginal villous adenoma 10.0 GLI1 SHH
34 dysautonomia, familial 10.0 GLI1 GLI2 SHH
35 macrocephaly with multiple epiphyseal dysplasia and distinctive facies 10.0 GLI3 KIF7
36 alpha chain disease 10.0 GLI1 GLI2 SHH
37 statin toxicity 9.9 GLI1 SHH
38 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 9.9 HYLS1 KIF7 SHH
39 fibrous dysplasia 9.9 GLI3 MKKS SHH
40 epilepsy, nocturnal frontal lobe, 5 9.9 HYLS1 KIF7 SHH
41 extragonadal germ cell cancer 9.9 GLI1 GLI2 GLI3 SHH
42 orchitis 9.9 GLI1 GLI2 GLI3 SHH
43 primary oculocerebral lymphoma 9.8 GAS1 GLI2 SHH
44 basal cell nevus syndrome 9.8 GLI1 GLI2 SHH
45 late-onset nephronophthisis 9.8 GAS1 GLI2 SHH
46 antenatal bartter syndrome 9.8 GAS1 GLI2 SHH
47 familial infantile bilateral striatal necrosis 9.8 GAS1 GLI2 SHH
48 atypical hemolytic-uremic syndrome with h factor anomaly 9.8 GAS1 GLI2 SHH
49 glaucoma 1, open angle, f 9.8 GAS1 GLI2 SHH
50 hypoplastic left heart syndrome 9.8 GAS1 GLI2 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 by clinical synopsis from OMIM:

146510

Clinical features from OMIM:

146510

Human phenotypes related to Pallister-Hall Syndrome:

32 (show top 50) (show all 52)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 precocious puberty 32 HP:0000826
3 depressed nasal bridge 32 HP:0005280
4 short nose 32 HP:0003196
5 microtia 32 HP:0008551
6 anteverted nares 32 HP:0000463
7 short stature 32 HP:0004322
8 ectopic kidney 32 HP:0000086
9 patent ductus arteriosus 32 HP:0001643
10 cryptorchidism 32 HP:0000028
11 short 4th metacarpal 32 HP:0010044
12 hip dislocation 32 HP:0002827
13 microphthalmia 32 HP:0000568
14 intrauterine growth retardation 32 HP:0001511
15 decreased testicular size 32 HP:0008734
16 anal atresia 32 HP:0002023
17 renal hypoplasia 32 HP:0000089
18 ventricular septal defect 32 HP:0001629
19 holoprosencephaly 32 HP:0001360
20 hemivertebrae 32 HP:0002937
21 toe syndactyly 32 HP:0001770
22 cleft upper lip 32 HP:0000204
23 atresia of the external auditory canal 32 HP:0000413
24 rib fusion 32 HP:0000902
25 postaxial hand polydactyly 32 HP:0001162
26 postaxial foot polydactyly 32 HP:0001830
27 nail dysplasia 32 HP:0002164
28 oligodactyly 32 HP:0012165
29 panhypopituitarism 32 HP:0000871
30 abnormal lung lobation 32 HP:0002101
31 micropenis 32 HP:0000054
32 adrenal hypoplasia 32 HP:0000835
33 decreased circulating cortisol level 32 HP:0008163
34 renal cyst 32 HP:0000107
35 midline facial capillary hemangioma 32 HP:0007601
36 renal dysplasia 32 HP:0000110
37 microglossia 32 HP:0000171
38 growth hormone deficiency 32 HP:0000824
39 posteriorly rotated ears 32 HP:0000358
40 natal tooth 32 HP:0000695
41 distal urethral duplication 32 HP:0008706
42 radial head subluxation 32 HP:0003048
43 hypothalamic hamartoma 32 HP:0002444
44 distal shortening of limbs 32 HP:0006402
45 mesoaxial hand polydactyly 32 HP:0006159
46 mesoaxial foot polydactyly 32 HP:0010112
47 bifid epiglottis 32 HP:0010564
48 laryngeal cleft 32 HP:0008751
49 preductal coarctation of the aorta 32 HP:0005151
50 hypoplasia of the epiglottis 32 HP:0005349

MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 GAS1 GLI1 GLI2 GLI3 IGF1 KIF7
2 growth/size/body region MP:0005378 10.1 GAS1 GLI1 GLI2 GLI3 IGF1 KIF7
3 craniofacial MP:0005382 10.08 GAS1 GLI1 GLI2 GLI3 KIF7 MKKS
4 limbs/digits/tail MP:0005371 10.06 GAS1 GLI1 GLI2 GLI3 IGF1 KIF7
5 cardiovascular system MP:0005385 10.03 GAS1 GLI3 IGF1 KIF7 MKKS SHH
6 mortality/aging MP:0010768 10.03 GAS1 GLI1 GLI2 GLI3 IGF1 KIF7
7 nervous system MP:0003631 10.01 GAS1 GLI1 GLI2 GLI3 IGF1 KIF7
8 embryo MP:0005380 9.99 GAS1 GLI1 GLI2 GLI3 KIF7 SHH
9 hearing/vestibular/ear MP:0005377 9.95 SHH GAS1 GLI2 GLI3 IGF1 MKKS
10 digestive/alimentary MP:0005381 9.92 GLI1 GLI2 GLI3 KIF7 SHH
11 reproductive system MP:0005389 9.87 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
12 respiratory system MP:0005388 9.86 GAS1 GLI1 GLI2 GLI3 IGF1 KIF7
13 no phenotypic analysis MP:0003012 9.77 GLI2 GLI3 KIF7 SHH GLI1
14 skeleton MP:0005390 9.63 GAS1 GLI2 GLI3 IGF1 KIF7 SHH
15 taste/olfaction MP:0005394 9.13 GLI3 MKKS SHH
16 vision/eye MP:0005391 9.1 GLI2 GLI3 KIF7 MKKS SHH GAS1

Drugs & Therapeutics for Pallister-Hall Syndrome

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Pallister-Hall Syndrome 29 24 GLI3

Anatomical Context for Pallister-Hall Syndrome

MalaCards organs/tissues related to Pallister-Hall Syndrome:

39
Skin, Brain, Pituitary, Kidney, Heart, Lung, Thyroid

Publications for Pallister-Hall Syndrome

Articles related to Pallister-Hall Syndrome:

(show top 50) (show all 62)
id Title Authors Year
1
The early history of Pallister-Hall syndrome-Buried treasure of a sort. ( 26768579 )
2016
2
Bifid epiglottis in a patient with Pallister-Hall syndrome. ( 27339091 )
2016
3
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. ( 26604140 )
2016
4
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768 )
2015
5
Pallister-Hall syndrome has gone the way of modern medical genetics. ( 25424727 )
2014
6
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. ( 23950073 )
2013
7
Teaching NeuroImages: isolated hypothalamic hamartoma vs Pallister-Hall syndrome: imaging and clinical correlation. ( 22927681 )
2012
8
Cochlear abnormality in a case of Pallister-Hall syndrome. ( 22890695 )
2012
9
Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation. ( 22499313 )
2012
10
Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister-Hall syndrome. ( 21636348 )
2011
11
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome. ( 19793630 )
2010
12
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. ( 21108399 )
2010
13
Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome. ( 20004865 )
2010
14
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. ( 19449422 )
2009
15
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. ( 18478223 )
2008
16
Genitourinary malformations as a feature of the Pallister-Hall syndrome. ( 16531732 )
2006
17
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. ( 16007608 )
2005
18
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. ( 15617553 )
2005
19
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. ( 15739154 )
2005
20
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. ( 15660767 )
2005
21
Gonadal mosaicism in severe Pallister-Hall syndrome. ( 14708104 )
2004
22
Pallister-Hall syndrome with hypoparathyroidism. ( 15237717 )
2004
23
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. ( 15046066 )
2004
24
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. ( 12575661 )
2003
25
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. ( 12773293 )
2003
26
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. ( 14523835 )
2003
27
Gli 3 mutation in Pallister-Hall syndrome. ( 12017244 )
2002
28
Pallister-Hall syndrome phenotype in mice mutant for Gli3. ( 11978771 )
2002
29
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. ( 11241471 )
2001
30
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. ( 11693785 )
2001
31
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. ( 11305791 )
2001
32
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. ( 10945658 )
2000
33
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. ( 10982485 )
2000
34
Pallister-Hall syndrome: clinical and MR features. ( 10588106 )
1999
35
Pallister-Hall syndrome. ( 9615516 )
1998
36
Pallister-Hall syndrome. ( 9807095 )
1998
37
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. ( 9054938 )
1997
38
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. ( 9192261 )
1997
39
Report from the workshop on Pallister-Hall syndrome and related phenotypes. ( 8914745 )
1996
40
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. ( 8950676 )
1996
41
Pallister-Hall syndrome. ( 8818945 )
1996
42
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? ( 7760322 )
1995
43
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. ( 8591673 )
1995
44
Hypothalamic hamartoma and the Pallister-Hall syndrome. ( 7577664 )
1995
45
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. ( 7473651 )
1995
46
Autosomal dominant transmission of Pallister-Hall syndrome. ( 7894735 )
1994
47
The Pallister-Hall syndrome. ( 7815447 )
1994
48
Familial Pallister-Hall syndrome. ( 8021773 )
1994
49
Recurrence of Pallister-Hall syndrome in two sibs. ( 8182722 )
1994
50
Familial Pallister-Hall syndrome: three affected offspring. ( 7802025 )
1994

Variations for Pallister-Hall Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 KIF7 p.Pro632Leu VAR_066450 rs115857753

ClinVar genetic disease variations for Pallister-Hall Syndrome:

6 (show all 30)
id 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.2012delG (p.Gly671Glufs) deletion Pathogenic rs116840743 GRCh37 Chromosome 7, 42012027: 42012027
3 GLI3 NM_000168.5(GLI3): c.3439G> T (p.Glu1147Ter) single nucleotide variant Pathogenic rs116840768 GRCh37 Chromosome 7, 42005232: 42005232
4 GLI3 NM_000168.5(GLI3): c.2770_2771insNC_012920.1: g.12243..12314 insertion Pathogenic GRCh37 Chromosome 7, 42005900: 42005901
5 GLI3 NM_000168.5(GLI3): c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs) deletion Pathogenic rs116840754 GRCh37 Chromosome 7, 42007419: 42007437
6 GLI3 NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter) single nucleotide variant Pathogenic rs116840747 GRCh37 Chromosome 7, 42011977: 42011977
7 GLI3 NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter) single nucleotide variant Pathogenic rs116840748 GRCh37 Chromosome 7, 42007515: 42007515
8 GLI3 NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs) deletion Pathogenic rs116840749 GRCh38 Chromosome 7, 41967888: 41967888
9 GLI3 NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs116840751 GRCh37 Chromosome 7, 42007476: 42007476
10 GLI3 NM_000168.5(GLI3): c.2172dupC (p.Asn725Glnfs) duplication Pathogenic rs116840753 GRCh38 Chromosome 7, 41967855: 41967855
11 GLI3 NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs) deletion Pathogenic rs116840756 GRCh38 Chromosome 7, 41967671: 41967681
12 GLI3 NM_000168.5(GLI3): c.2431+1G> A single nucleotide variant Pathogenic rs116840758 GRCh37 Chromosome 7, 42007193: 42007193
13 GLI3 NM_000168.5(GLI3): c.2567C> A (p.Ser856Ter) single nucleotide variant Pathogenic rs116840760 GRCh37 Chromosome 7, 42006104: 42006104
14 GLI3 NM_000168.5(GLI3): c.2620delC (p.Arg874Alafs) deletion Pathogenic rs116840761 GRCh38 Chromosome 7, 41966453: 41966453
15 GLI3 NM_000168.5(GLI3): c.2799C> G (p.Tyr933Ter) single nucleotide variant Pathogenic rs116840763 GRCh37 Chromosome 7, 42005872: 42005872
16 GLI3 NM_000168.5(GLI3): c.2935delT (p.Cys979Alafs) deletion Pathogenic rs116840764 GRCh37 Chromosome 7, 42005736: 42005736
17 GLI3 NM_000168.5(GLI3): c.3004delG (p.Val1002Terfs) deletion Pathogenic rs116840765 GRCh37 Chromosome 7, 42005667: 42005667
18 GLI3 NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs) deletion Pathogenic rs116840755 GRCh37 Chromosome 7, 42007427: 42007428
19 GLI3 NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs) deletion Pathogenic rs116840757 GRCh37 Chromosome 7, 42007270: 42007274
20 GLI3 NM_000168.5(GLI3): c.3324C> G (p.Tyr1108Ter) single nucleotide variant Pathogenic rs116840766 GRCh37 Chromosome 7, 42005347: 42005347
21 GLI3 NM_000168.5(GLI3): c.2483delC (p.Pro828Argfs) deletion Pathogenic rs116840759 GRCh37 Chromosome 7, 42006188: 42006188
22 GLI3 NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter) indel Pathogenic rs116840746 GRCh37 Chromosome 7, 42011980: 42011981
23 GLI3 NM_000168.5(GLI3): c.2628delC (p.Ser877Alafs) deletion Pathogenic rs116840762 GRCh37 Chromosome 7, 42006043: 42006043
24 GLI3 NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic rs116840750 GRCh37 Chromosome 7, 42007479: 42007479
25 GLI3 NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs) deletion Pathogenic rs116840752 GRCh37 Chromosome 7, 42007468: 42007468
26 GLI3 NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs) deletion Pathogenic rs116840742 GRCh37 Chromosome 7, 42012038: 42012041
27 GLI3 NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs) deletion Pathogenic rs116840745 GRCh37 Chromosome 7, 42012007: 42012007
28 GLI3 NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs) deletion Pathogenic rs281864935 GRCh37 Chromosome 7, 42005284: 42005285
29 GLI3 NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp) single nucleotide variant Pathogenic rs116840769 GRCh37 Chromosome 7, 42005215: 42005215
30 GLI3 NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter) single nucleotide variant Pathogenic rs116840770 GRCh37 Chromosome 7, 42005190: 42005190

Expression for Pallister-Hall Syndrome

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

Pathways for Pallister-Hall Syndrome

GO Terms for Pallister-Hall Syndrome

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

id 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 64)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.91 GLI2 GLI3 MKKS SHH
2 regulation of gene expression GO:0010468 9.89 GLI3 IGF1 SHH
3 axon guidance GO:0007411 9.88 GLI2 GLI3 SHH
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.88 GLI1 GLI3 SHH
5 kidney development GO:0001822 9.83 GLI2 GLI3 SHH
6 anterior/posterior pattern specification GO:0009952 9.82 GLI2 GLI3 SHH
7 embryonic digit morphogenesis GO:0042733 9.8 GLI2 GLI3 SHH
8 odontogenesis of dentin-containing tooth GO:0042475 9.8 GLI2 GLI3 SHH
9 pattern specification process GO:0007389 9.78 GLI2 GLI3 SHH
10 lung development GO:0030324 9.76 GLI1 GLI2 GLI3 SHH
11 positive regulation of DNA replication GO:0045740 9.74 GLI1 GLI2 IGF1
12 positive regulation of osteoblast differentiation GO:0045669 9.73 GLI3 IGF1
13 embryonic limb morphogenesis GO:0030326 9.73 GLI3 SHH
14 inner ear development GO:0048839 9.73 GLI3 SHH
15 neural tube development GO:0021915 9.73 GLI2 GLI3
16 branching involved in ureteric bud morphogenesis GO:0001658 9.73 GLI3 SHH
17 limb development GO:0060173 9.73 GLI3 SHH
18 embryonic organ development GO:0048568 9.72 GLI3 SHH
19 oligodendrocyte differentiation GO:0048709 9.72 GLI3 SHH
20 metanephros development GO:0001656 9.72 GLI3 SHH
21 pituitary gland development GO:0021983 9.72 GLI1 GLI2
22 neuron fate commitment GO:0048663 9.72 GLI3 SHH
23 branching morphogenesis of an epithelial tube GO:0048754 9.72 GLI2 GLI3 SHH
24 mammary gland development GO:0030879 9.71 GLI2 GLI3
25 T cell differentiation in thymus GO:0033077 9.71 GLI3 SHH
26 hindbrain development GO:0030902 9.71 GLI2 SHH
27 positive regulation of smoothened signaling pathway GO:0045880 9.71 GLI1 KIF7 SHH
28 smoothened signaling pathway GO:0007224 9.71 GLI1 GLI2 GLI3 SHH
29 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 SHH
30 proximal/distal pattern formation GO:0009954 9.7 GLI1 GLI2 GLI3
31 embryonic digestive tract morphogenesis GO:0048557 9.69 GLI3 SHH
32 negative regulation of smoothened signaling pathway GO:0045879 9.69 GLI3 KIF7
33 myoblast differentiation GO:0045445 9.69 IGF1 SHH
34 regulation of smoothened signaling pathway GO:0008589 9.69 GAS1 GLI1 GLI2
35 osteoblast development GO:0002076 9.68 GLI2 SHH
36 embryonic digestive tract development GO:0048566 9.68 GLI2 GLI3
37 positive regulation of protein import into nucleus GO:0042307 9.68 GLI3 SHH
38 embryonic morphogenesis GO:0048598 9.67 GLI3 SHH
39 digestive tract morphogenesis GO:0048546 9.67 GLI1 SHH
40 dorsal/ventral neural tube patterning GO:0021904 9.67 GLI2 SHH
41 spinal cord motor neuron differentiation GO:0021522 9.67 GLI2 GLI3 SHH
42 dorsal/ventral pattern formation GO:0009953 9.67 GLI1 GLI2 GLI3 SHH
43 negative thymic T cell selection GO:0045060 9.66 GLI3 SHH
44 positive regulation of T cell differentiation in thymus GO:0033089 9.65 GLI2 SHH
45 positive regulation of alpha-beta T cell differentiation GO:0046638 9.65 GLI3 SHH
46 anatomical structure formation involved in morphogenesis GO:0048646 9.65 GLI2 GLI3 SHH
47 artery development GO:0060840 9.64 GLI3 SHH
48 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.64 GLI2 GLI3
49 cerebellar cortex morphogenesis GO:0021696 9.63 GLI1 GLI2
50 anatomical structure development GO:0048856 9.61 GLI2 GLI3 SHH

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.28 GAS1 GLI1 GLI2 GLI3 HYLS1 IGF1

Sources for Pallister-Hall Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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