MCID: PLL001
MIFTS: 54

Pallister-Hall Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pallister-Hall Syndrome

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Aliases & Descriptions for Pallister-Hall Syndrome:

Name: Pallister-Hall Syndrome 51 11 23 47 24 25 69 12 49 38 13 67
Phs 47 25 69
Hall-Pallister Syndrome 25 26
 
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 47
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly 69
Pallister Hall Syndrome 47

Characteristics:

HPO:

63
pallister-hall syndrome:
Inheritance: autosomal dominant inheritance
Mortality/Aging: neonatal death

GeneReviews:

23
Penetrance: no instances of incomplete penetrance of phs have been published...


Classifications:



External Ids:

OMIM51 146510
Disease Ontology11 DOID:9248
MeSH38 D054975
SNOMED-CT61 56677004
NCIt44 C84987
MedGen36 C0265220

Summaries for Pallister-Hall Syndrome

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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 imperforate anus and pulmonary hypertension, and has symptoms including postaxial hand polydactyly, abnormality of the fingernails and intrauterine growth retardation. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Wnt / Hedgehog / Notch. Affiliated tissues include skin, pituitary and brain, and related mouse phenotypes are taste/olfaction and digestive/alimentary.

UniProtKB/Swiss-Prot:69 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.

OMIM:51 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary... (146510) more...

NIH Rare Diseases:47 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

GeneReviews for NBK1465

Related Diseases for Pallister-Hall Syndrome

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1imperforate anus30.3GLI2, GLI3, SHH
2pulmonary hypertension11.4
3lactic acidosis11.2
4culler-jones syndrome11.1
5pitt-hopkins syndrome11.1
6metabolic acidosis11.0
7hyperoxaluria, primary, type iii11.0
8h. pylori infection11.0
9hyperphenylalaninemia, bh4-deficient, d10.9
10acid sphingomyelinase deficiency10.8
11hypothalamic hamartomas10.6
12colonic pseudo-obstruction10.2GLI1, GLI2
13polydactyly10.2
14renal agenesis, unilateral10.2GLI3, SHH
15isobutyryl-coa dehydrogenase deficiency10.1HYLS1, KIF7
16adenosine monophosphate deaminase deficiency erythrocyte type10.1GLI2, GLI3, KIF7
17epileptic encephalopathy, early infantile, 1210.1GLI3, MKKS
18pneumonia10.1GLI1, SHH
19smith-lemli-opitz syndrome10.0
20hydrolethalus syndrome10.0
21mckusick-kaufman syndrome10.0
22hypoparathyroidism10.0
23epilepsy10.0
24laryngitis10.0
25hypopituitarism10.0
26diabetes insipidus10.0GLI2, IGF1
27kummell's disease10.0GLI1, SHH
28antidepressant or antipsychotic toxicity or dose selection10.0GLI1, SHH
29lipodystrophy, congenital generalized, type 210.0KIF7, MKKS
30melanotic medulloblastoma9.9GLI1, SHH
31hemopericardium9.9GLI2, GLI3, SHH
32spondylocostal dysostosis 2, autosomal recessive9.9GLI3, KIF7
33agnathia-otocephaly complex9.9GLI2, SHH
34dysautonomia, familial9.8GLI1, GLI2, SHH
35heavy chain disease9.8GLI1, GLI2, SHH
36foramen magnum meningioma9.6GLI1, GLI2, GLI3, SHH
37pelizaeus-merzbacher disease in female carriers9.5GAS1, GLI2, SHH
38x-linked dominant intellectual disability-epilepsy syndrome9.5GAS1, GLI2, SHH
39x-linked intellectual disability, golabi-ito-hall type9.5GAS1, GLI2, SHH
40x-linked intellectual disability, porteous type9.5GAS1, GLI2, SHH
41homocystinuria without methylmalonic aciduria9.5GAS1, GLI2, SHH
42microphthalmia with coloboma 59.5GAS1, GLI2, SHH
43hydrocephalus9.5GAS1, GLI2, SHH
44intracranial structure hemangioma8.9GAS1, GLI1, GLI2, GLI3, SHH
45basal cell nevus syndrome8.9GAS1, GLI1, GLI2, KIF7, SHH
46polydactyly, preaxial, type iv7.2GAS1, GLI1, GLI2, GLI3, HYLS1, IGF1

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



Diseases related to pallister-hall syndrome

Symptoms for Pallister-Hall Syndrome

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Symptoms by clinical synopsis from OMIM:

146510

Clinical features from OMIM:

146510

Human phenotypes related to Pallister-Hall Syndrome:

 63 (show all 70)
id Description HPO Frequency HPO Source Accession
1 postaxial hand polydactyly63 hallmark (90%) HP:0001162
2 abnormality of the fingernails63 hallmark (90%) HP:0001231
3 intrauterine growth retardation63 hallmark (90%) HP:0001511
4 abnormality of the toenails63 hallmark (90%) HP:0008388
5 multicystic kidney dysplasia63 typical (50%) HP:0000003
6 cryptorchidism63 typical (50%) HP:0000028
7 cleft palate63 typical (50%) HP:0000175
8 micrognathia63 typical (50%) HP:0000347
9 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
10 anterior hypopituitarism63 typical (50%) HP:0000830
11 abnormal lung lobation63 typical (50%) HP:0002101
12 tracheoesophageal fistula63 typical (50%) HP:0002575
13 micromelia63 typical (50%) HP:0002983
14 short nose63 typical (50%) HP:0003196
15 depressed nasal bridge63 typical (50%) HP:0005280
16 finger syndactyly63 typical (50%) HP:0006101
17 primary adrenal insufficiency63 typical (50%) HP:0008207
18 urogenital fistula63 typical (50%) HP:0100589
19 behavioral abnormality63 occasional (7.5%) HP:0000708
20 precocious puberty63 occasional (7.5%) HP:0000826
21 brachydactyly syndrome63 occasional (7.5%) HP:0001156
22 seizures63 occasional (7.5%) HP:0001250
23 ventricular septal defect63 occasional (7.5%) HP:0001629
24 patent ductus arteriosus63 occasional (7.5%) HP:0001643
25 abnormality of the heart valves63 occasional (7.5%) HP:0001654
26 toe syndactyly63 occasional (7.5%) HP:0001770
27 postaxial foot polydactyly63 occasional (7.5%) HP:0001830
28 aganglionic megacolon63 occasional (7.5%) HP:0002251
29 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
30 renal hypoplasia/aplasia63 occasional (7.5%) HP:0008678
31 cognitive impairment63 occasional (7.5%) HP:0100543
32 micropenis63 HP:0000054
33 ectopic kidney63 HP:0000086
34 renal hypoplasia63 HP:0000089
35 renal cyst63 HP:0000107
36 renal dysplasia63 HP:0000110
37 microglossia63 HP:0000171
38 cleft upper lip63 HP:0000204
39 atresia of the external auditory canal63 HP:0000413
40 anteverted nares63 HP:0000463
41 microphthalmia63 HP:0000568
42 natal tooth63 HP:0000695
43 growth hormone deficiency63 HP:0000824
44 adrenal hypoplasia63 HP:0000835
45 panhypopituitarism63 HP:0000871
46 rib fusion63 HP:0000902
47 holoprosencephaly63 HP:0001360
48 anal atresia63 HP:0002023
49 nail dysplasia63 HP:0002164
50 hypothalamic hamartoma63 HP:0002444
51 hip dislocation63 HP:0002827
52 hemivertebrae63 HP:0002937
53 radial head subluxation63 HP:0003048
54 short stature63 HP:0004322
55 preductal coarctation of the aorta63 HP:0005151
56 hypoplasia of the epiglottis63 HP:0005349
57 y-shaped metacarpals63 HP:0006042
58 mesoaxial hand polydactyly63 HP:0006159
59 distal shortening of limbs63 HP:0006402
60 midline facial capillary hemangioma63 HP:0007601
61 thyroid dysgenesis63 HP:0008188
62 hypocortisolemia63 HP:0008220
63 microtia63 HP:0008551
64 distal urethral duplication63 HP:0008706
65 decreased testicular size63 HP:0008734
66 laryngeal cleft63 HP:0008751
67 short 4th metacarpal63 HP:0010044
68 mesoaxial foot polydactyly63 HP:0010112
69 bifid epiglottis63 HP:0010564
70 oligodactyly63 HP:0012165

Drugs & Therapeutics for Pallister-Hall Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404

Search NIH Clinical Center for Pallister-Hall Syndrome


Cochrane evidence based reviews: pallister-hall syndrome

Genetic Tests for Pallister-Hall Syndrome

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Genetic tests related to Pallister-Hall Syndrome:

id Genetic test Affiliating Genes
1 Pallister-Hall Syndrome26 24 GLI3

Anatomical Context for Pallister-Hall Syndrome

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MalaCards organs/tissues related to Pallister-Hall Syndrome:

35
Skin, Pituitary, Brain, Kidney, Heart, Thyroid, Lung

Animal Models for Pallister-Hall Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

40 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.7GLI3, MKKS, SHH
2MP:00053819.4GLI1, GLI2, GLI3, KIF7, SHH
3MP:00030129.3GLI1, GLI2, GLI3, KIF7, SHH
4MP:00053808.6GAS1, GLI1, GLI2, GLI3, KIF7, SHH
5MP:00053908.3GAS1, GLI2, GLI3, IGF1, KIF7, SHH
6MP:00053858.3GAS1, GLI3, IGF1, KIF7, MKKS, SHH
7MP:00053898.2GLI1, GLI2, GLI3, IGF1, KIF7, MKKS
8MP:00053778.2GAS1, GLI2, GLI3, IGF1, MKKS, SHH
9MP:00053827.9GAS1, GLI1, GLI2, GLI3, KIF7, MKKS
10MP:00053767.8GAS1, GLI2, GLI3, IGF1, KIF7, MKKS
11MP:00053847.5GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
12MP:00053787.5GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
13MP:00053717.5GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
14MP:00107687.4GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
15MP:00053917.4GAS1, GLI2, GLI3, KIF7, MKKS, SHH
16MP:00036317.4GAS1, GLI1, GLI2, GLI3, IGF1, KIF7
17MP:00053887.4GAS1, GLI1, GLI2, GLI3, IGF1, KIF7

Publications for Pallister-Hall Syndrome

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Articles related to Pallister-Hall Syndrome:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. (26604140)
2016
2
Bifid epiglottis in a patient with Pallister-Hall syndrome. (27339091)
2016
3
Pallister-Hall syndrome has gone the way of modern medical genetics. (25424727)
2014
4
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. (23950073)
2013
5
Cochlear abnormality in a case of Pallister-Hall syndrome. (22890695)
2012
6
Teaching NeuroImages: isolated hypothalamic hamartoma vs Pallister-Hall syndrome: imaging and clinical correlation. (22927681)
2012
7
Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation. (22499313)
2012
8
Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister-Hall syndrome. (21636348)
2011
9
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. (21108399)
2010
10
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome. (19793630)
2010
11
Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome. (20004865)
2010
12
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. (19449422)
2009
13
Genitourinary malformations as a feature of the Pallister-Hall syndrome. (16531732)
2006
14
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. (15617553)
2005
15
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. (15660767)
2005
16
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. (16007608)
2005
17
Pallister-Hall syndrome with hypoparathyroidism. (15237717)
2004
18
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (15046066)
2004
19
Gonadal mosaicism in severe Pallister-Hall syndrome. (14708104)
2004
20
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. (12773293)
2003
21
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. (14523835)
2003
22
Gli 3 mutation in Pallister-Hall syndrome. (12017244)
2002
23
Pallister-Hall syndrome phenotype in mice mutant for Gli3. (11978771)
2002
24
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. (11305791)
2001
25
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. (11693785)
2001
26
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. (10945658)
2000
27
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. (10982485)
2000
28
Pallister-Hall syndrome: clinical and MR features. (10588106)
1999
29
Pallister-Hall syndrome. (9615516)
1998
30
Pallister-Hall syndrome. (9807095)
1998
31
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (9192261)
1997
32
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. (9054938)
1997
33
Report from the workshop on Pallister-Hall syndrome and related phenotypes. (8914745)
1996
34
Pallister-Hall syndrome. (8818945)
1996
35
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. (8950676)
1996
36
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. (7473651)
1995
37
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? (7760322)
1995
38
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. (8591673)
1995
39
Familial Pallister-Hall syndrome: three affected offspring. (7802025)
1994
40
Recurrence of Pallister-Hall syndrome in two sibs. (8182722)
1994
41
Autosomal dominant transmission of Pallister-Hall syndrome. (7894735)
1994
42
The Pallister-Hall syndrome. (7815447)
1994
43
Familial Pallister-Hall syndrome. (8021773)
1994
44
Familial Pallister-Hall syndrome: case report and hormonal evaluation. (8135274)
1993
45
Autosomal dominant transmission of the Pallister-Hall syndrome. (8229528)
1993
46
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. (1776653)
1991
47
Extending the Pallister-Hall syndrome to include other central nervous system malformations. (1746599)
1991
48
Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome. (2596511)
1989
49
A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome). (3146300)
1986
50
Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome) (7057839)
1982

Variations for Pallister-Hall Syndrome

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

69
id Symbol AA change Variation ID SNP ID
1KIF7p.Pro632LeuVAR_066450rs115857753

Clinvar genetic disease variations for Pallister-Hall Syndrome:

5 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1GLI3NM_000168.5(GLI3): c.2023delG (p.Glu675Serfs)deletionPathogenicrs116840744GRCh37Chr 7, 42012016: 42012016
2GLI3NM_000168.5(GLI3): c.2012delG (p.Gly671Glufs)deletionPathogenicrs116840743GRCh37Chr 7, 42012027: 42012027
3GLI3NM_000168.5(GLI3): c.3439G> T (p.Glu1147Ter)SNVPathogenicrs116840768GRCh37Chr 7, 42005232: 42005232
4GLI3NM_000168.5(GLI3): c.2770_2771insNC_012920.1: g.12243..12314insertionPathogenicGRCh37Chr 7, 42005900: 42005901
5GLI3NM_000168.5(GLI3): c.2188_2206del19 (p.Leu730Valfs)deletionPathogenicrs116840754GRCh37Chr 7, 42007419: 42007437
6GLI3NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs)deletionPathogenicrs116840742GRCh37Chr 7, 42012038: 42012041
7GLI3NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs)deletionPathogenicrs116840745GRCh37Chr 7, 42012007: 42012007
8GLI3NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter)indelPathogenicrs116840746GRCh37Chr 7, 42011980: 42011981
9GLI3NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter)SNVPathogenicrs116840747GRCh37Chr 7, 42011977: 42011977
10GLI3NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter)SNVPathogenicrs116840748GRCh38Chr 7, 41967917: 41967917
11GLI3NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs)deletionPathogenicrs116840749GRCh38Chr 7, 41967888: 41967888
12GLI3NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter)SNVPathogenicrs116840750GRCh37Chr 7, 42007479: 42007479
13GLI3NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter)SNVPathogenicrs116840751GRCh37Chr 7, 42007476: 42007476
14GLI3NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs)deletionPathogenicrs116840752GRCh38Chr 7, 41967870: 41967870
15GLI3NM_000168.5(GLI3): c.2172dupC (p.Asn725Glnfs)duplicationPathogenicrs116840753GRCh37Chr 7, 42007453: 42007453
16GLI3NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs)deletionPathogenicrs116840755GRCh37Chr 7, 42007427: 42007428
17GLI3NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs)deletionPathogenicrs116840756GRCh38Chr 7, 41967671: 41967681
18GLI3NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs)deletionPathogenicrs116840757GRCh37Chr 7, 42007270: 42007274
19GLI3NM_000168.5(GLI3): c.2431+1G> ASNVPathogenicrs116840758GRCh37Chr 7, 42007193: 42007193
20GLI3NM_000168.5(GLI3): c.2483delC (p.Pro828Argfs)deletionPathogenicrs116840759GRCh38Chr 7, 41966590: 41966590
21GLI3NM_000168.5(GLI3): c.2567C> A (p.Ser856Ter)SNVPathogenicrs116840760GRCh38Chr 7, 41966506: 41966506
22GLI3NM_000168.5(GLI3): c.2620delC (p.Arg874Alafs)deletionPathogenicrs116840761GRCh37Chr 7, 42006051: 42006051
23GLI3NM_000168.5(GLI3): c.2628delC (p.Ser877Alafs)deletionPathogenicrs116840762GRCh37Chr 7, 42006043: 42006043
24GLI3NM_000168.5(GLI3): c.2799C> G (p.Tyr933Ter)SNVPathogenicrs116840763GRCh37Chr 7, 42005872: 42005872
25GLI3NM_000168.5(GLI3): c.2935delT (p.Cys979Alafs)deletionPathogenicrs116840764GRCh37Chr 7, 42005736: 42005736
26GLI3NM_000168.5(GLI3): c.3004delG (p.Val1002Terfs)deletionPathogenicrs116840765GRCh37Chr 7, 42005667: 42005667
27GLI3NM_000168.5(GLI3): c.3324C> G (p.Tyr1108Ter)SNVPathogenicrs116840766GRCh37Chr 7, 42005347: 42005347
28GLI3NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs)deletionPathogenicrs281864935GRCh37Chr 7, 42005284: 42005285
29GLI3NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp)SNVPathogenicrs116840769GRCh37Chr 7, 42005215: 42005215
30GLI3NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter)SNVPathogenicrs116840770GRCh37Chr 7, 42005190: 42005190

Expression for genes affiliated with Pallister-Hall Syndrome

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

Pathways for genes affiliated with Pallister-Hall Syndrome

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GO Terms for genes affiliated with Pallister-Hall Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1ciliary baseGO:00975469.8GLI1, GLI2, GLI3
2ciliary tipGO:00975429.4GLI1, GLI2, GLI3, KIF7
3axonemeGO:00059309.1GLI1, GLI2, GLI3
4ciliumGO:00059299.0GLI1, GLI2, GLI3, KIF7

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1tube developmentGO:003529510.5GLI2, GLI3
2smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:002177610.5GLI2, GLI3
3smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:002177510.5GLI2, GLI3
4notochord regressionGO:006003210.5GLI1, GLI2
5negative regulation of smoothened signaling pathwayGO:004587910.4GLI3, KIF7
6smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.4GLI2, GLI3
7cerebellar cortex morphogenesisGO:002169610.4GLI1, GLI2
8negative regulation of alpha-beta T cell differentiationGO:004663910.3GLI3, SHH
9embryonic digestive tract morphogenesisGO:004855710.3GLI3, SHH
10positive regulation of alpha-beta T cell differentiationGO:004663810.3GLI3, SHH
11artery developmentGO:006084010.3GLI3, SHH
12embryonic digestive tract developmentGO:004856610.3GLI2, GLI3
13embryonic morphogenesisGO:004859810.2GLI3, SHH
14positive regulation of protein import into nucleusGO:004230710.2GLI3, SHH
15digestive tract morphogenesisGO:004854610.2GLI1, SHH
16positive regulation of T cell differentiation in thymusGO:003308910.2GLI2, SHH
17dorsal/ventral neural tube patterningGO:002190410.2GLI2, SHH
18myoblast differentiationGO:004544510.2IGF1, SHH
19osteoblast developmentGO:000207610.1GLI2, SHH
20hindbrain developmentGO:003090210.1GLI2, SHH
21spinal cord dorsal/ventral patterningGO:00215139.9GLI2, GLI3, SHH
22negative thymic T cell selectionGO:00450609.9GLI3, SHH
23hindgut morphogenesisGO:00074429.9GLI2, GLI3, SHH
24anatomical structure developmentGO:00488569.9GLI2, GLI3, SHH
25smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:00219389.9GLI1, GLI2, SHH
26ventral midline developmentGO:00074189.9GLI1, GLI2, SHH
27spinal cord motor neuron differentiationGO:00215229.9GLI2, GLI3, SHH
28branching morphogenesis of an epithelial tubeGO:00487549.8GLI2, GLI3, SHH
29positive regulation of smoothened signaling pathwayGO:00458809.8GLI1, KIF7, SHH
30embryonic digit morphogenesisGO:00427339.7GLI2, GLI3, SHH
31anterior/posterior pattern specificationGO:00099529.7GLI2, GLI3, SHH
32kidney developmentGO:00018229.7GLI2, GLI3, SHH
33proximal/distal pattern formationGO:00099549.7GLI1, GLI2, GLI3
34pattern specification processGO:00073899.7GLI2, GLI3, SHH
35odontogenesis of dentin-containing toothGO:00424759.7GLI2, GLI3, SHH
36positive regulation of DNA replicationGO:00457409.6GLI1, GLI2, IGF1
37positive regulation of neuroblast proliferationGO:00020529.6GLI3, SHH
38anatomical structure formation involved in morphogenesisGO:00486469.6GLI2, GLI3, SHH
39negative regulation of canonical Wnt signaling pathwayGO:00900909.5GLI1, GLI3, SHH
40regulation of smoothened signaling pathwayGO:00085899.4GAS1, GLI1, GLI2
41axon guidanceGO:00074119.3GLI2, GLI3, SHH
42dorsal/ventral pattern formationGO:00099539.3GLI1, GLI2, GLI3, SHH
43smoothened signaling pathwayGO:00072249.3GLI1, GLI2, GLI3, SHH
44lung developmentGO:00303249.2GLI1, GLI2, GLI3, SHH
45negative regulation of apoptotic processGO:00430669.0GLI2, GLI3, IGF1, SHH
46heart developmentGO:00075078.8GLI2, GLI3, MKKS, SHH
47developmental growthGO:00485898.7GAS1, GLI2, GLI3, SHH
48positive regulation of transcription, DNA-templatedGO:00458938.7GLI1, GLI2, GLI3, IGF1, SHH
49positive regulation of cell proliferationGO:00082848.4GLI1, GLI2, IGF1, SHH
50positive regulation of transcription from RNA polymerase II promoterGO:00459448.4GLI1, GLI2, GLI3, IGF1, SHH

Sources for Pallister-Hall Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet