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 52 11 23 48 24 25 70 12 50 39 13 68
Phs 48 25 70
Hall-Pallister Syndrome 25 27
 
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 48
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly 70
Pallister Hall Syndrome 48

Characteristics:

HPO:

64
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:

OMIM52 146510
Disease Ontology11 DOID:9248
MeSH39 D054975
SNOMED-CT62 56677004
NCIt45 C84987
MedGen37 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.

NIH Rare Diseases:48 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:52 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary... (146510) more...

UniProtKB/Swiss-Prot:70 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.

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 & Phenotypes 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:

 64 (show all 70)
id Description HPO Frequency HPO Source Accession
1 postaxial hand polydactyly64 hallmark (90%) HP:0001162
2 abnormality of the fingernails64 hallmark (90%) HP:0001231
3 intrauterine growth retardation64 hallmark (90%) HP:0001511
4 abnormality of the toenails64 hallmark (90%) HP:0008388
5 multicystic kidney dysplasia64 typical (50%) HP:0000003
6 cryptorchidism64 typical (50%) HP:0000028
7 cleft palate64 typical (50%) HP:0000175
8 micrognathia64 typical (50%) HP:0000347
9 low-set, posteriorly rotated ears64 typical (50%) HP:0000368
10 anterior hypopituitarism64 typical (50%) HP:0000830
11 abnormal lung lobation64 typical (50%) HP:0002101
12 tracheoesophageal fistula64 typical (50%) HP:0002575
13 micromelia64 typical (50%) HP:0002983
14 short nose64 typical (50%) HP:0003196
15 depressed nasal bridge64 typical (50%) HP:0005280
16 finger syndactyly64 typical (50%) HP:0006101
17 primary adrenal insufficiency64 typical (50%) HP:0008207
18 urogenital fistula64 typical (50%) HP:0100589
19 behavioral abnormality64 occasional (7.5%) HP:0000708
20 precocious puberty64 occasional (7.5%) HP:0000826
21 brachydactyly syndrome64 occasional (7.5%) HP:0001156
22 seizures64 occasional (7.5%) HP:0001250
23 ventricular septal defect64 occasional (7.5%) HP:0001629
24 patent ductus arteriosus64 occasional (7.5%) HP:0001643
25 abnormality of the heart valves64 occasional (7.5%) HP:0001654
26 toe syndactyly64 occasional (7.5%) HP:0001770
27 postaxial foot polydactyly64 occasional (7.5%) HP:0001830
28 aganglionic megacolon64 occasional (7.5%) HP:0002251
29 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
30 renal hypoplasia/aplasia64 occasional (7.5%) HP:0008678
31 cognitive impairment64 occasional (7.5%) HP:0100543
32 micropenis64 HP:0000054
33 ectopic kidney64 HP:0000086
34 renal hypoplasia64 HP:0000089
35 renal cyst64 HP:0000107
36 renal dysplasia64 HP:0000110
37 microglossia64 HP:0000171
38 cleft upper lip64 HP:0000204
39 atresia of the external auditory canal64 HP:0000413
40 anteverted nares64 HP:0000463
41 microphthalmia64 HP:0000568
42 natal tooth64 HP:0000695
43 growth hormone deficiency64 HP:0000824
44 adrenal hypoplasia64 HP:0000835
45 panhypopituitarism64 HP:0000871
46 rib fusion64 HP:0000902
47 holoprosencephaly64 HP:0001360
48 anal atresia64 HP:0002023
49 nail dysplasia64 HP:0002164
50 hypothalamic hamartoma64 HP:0002444
51 hip dislocation64 HP:0002827
52 hemivertebrae64 HP:0002937
53 radial head subluxation64 HP:0003048
54 short stature64 HP:0004322
55 preductal coarctation of the aorta64 HP:0005151
56 hypoplasia of the epiglottis64 HP:0005349
57 y-shaped metacarpals64 HP:0006042
58 mesoaxial hand polydactyly64 HP:0006159
59 distal shortening of limbs64 HP:0006402
60 midline facial capillary hemangioma64 HP:0007601
61 thyroid dysgenesis64 HP:0008188
62 hypocortisolemia64 HP:0008220
63 microtia64 HP:0008551
64 distal urethral duplication64 HP:0008706
65 decreased testicular size64 HP:0008734
66 laryngeal cleft64 HP:0008751
67 short 4th metacarpal64 HP:0010044
68 mesoaxial foot polydactyly64 HP:0010112
69 bifid epiglottis64 HP:0010564
70 oligodactyly64 HP:0012165

MGI Mouse Phenotypes related to Pallister-Hall Syndrome according to GeneCards Suite gene sharing:

41 (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

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 Syndrome27 24 GLI3

Anatomical Context for Pallister-Hall Syndrome

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MalaCards organs/tissues related to Pallister-Hall Syndrome:

36
Skin, Pituitary, Brain, Kidney, Heart, Thyroid, Lung

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
The early history of Pallister-Hall syndrome-Buried treasure of a sort. (26768579)
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
Cochlear abnormality in a case of Pallister-Hall syndrome. (22890695)
2012
8
Teaching NeuroImages: isolated hypothalamic hamartoma vs Pallister-Hall syndrome: imaging and clinical correlation. (22927681)
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
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. (21108399)
2010
12
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome. (19793630)
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
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. (15617553)
2005
18
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. (15660767)
2005
19
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. (16007608)
2005
20
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. (15739154)
2005
21
Pallister-Hall syndrome with hypoparathyroidism. (15237717)
2004
22
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (15046066)
2004
23
Gonadal mosaicism in severe Pallister-Hall syndrome. (14708104)
2004
24
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. (12773293)
2003
25
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. (14523835)
2003
26
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (12575661)
2003
27
Gli 3 mutation in Pallister-Hall syndrome. (12017244)
2002
28
Pallister-Hall syndrome phenotype in mice mutant for Gli3. (11978771)
2002
29
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. (11305791)
2001
30
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. (11693785)
2001
31
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. (11241471)
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
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (9192261)
1997
38
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. (9054938)
1997
39
Report from the workshop on Pallister-Hall syndrome and related phenotypes. (8914745)
1996
40
Pallister-Hall syndrome. (8818945)
1996
41
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. (8950676)
1996
42
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. (7473651)
1995
43
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? (7760322)
1995
44
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. (8591673)
1995
45
Hypothalamic hamartoma and the Pallister-Hall syndrome. (7577664)
1995
46
Familial Pallister-Hall syndrome: three affected offspring. (7802025)
1994
47
Recurrence of Pallister-Hall syndrome in two sibs. (8182722)
1994
48
Autosomal dominant transmission of Pallister-Hall syndrome. (7894735)
1994
49
The Pallister-Hall syndrome. (7815447)
1994
50
Familial Pallister-Hall syndrome. (8021773)
1994

Variations for Pallister-Hall Syndrome

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

70
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
1axonemeGO:000593010.0GLI1, GLI2, GLI3
2ciliary baseGO:009754610.0GLI1, GLI2, GLI3
3ciliary tipGO:00975429.6GLI1, GLI2, GLI3, KIF7
4ciliumGO:00059299.0GLI1, GLI2, GLI3, KIF7

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

(show top 50)    (show all 63)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of smoothened signaling pathwayGO:004587910.6GLI3, KIF7
2embryonic digestive tract developmentGO:004856610.5GLI2, GLI3
3mammary gland developmentGO:003087910.5GLI2, GLI3
4neural tube developmentGO:002191510.5GLI2, GLI3
5cerebellar cortex morphogenesisGO:002169610.5GLI1, GLI2
6notochord regressionGO:006003210.5GLI1, GLI2
7pituitary gland developmentGO:002198310.4GLI1, GLI2
8artery developmentGO:006084010.4GLI3, SHH
9branching involved in ureteric bud morphogenesisGO:000165810.4GLI3, SHH
10embryonic digestive tract morphogenesisGO:004855710.4GLI3, SHH
11embryonic limb morphogenesisGO:003032610.4GLI3, SHH
12embryonic morphogenesisGO:004859810.4GLI3, SHH
13inner ear developmentGO:004883910.4GLI3, SHH
14limb developmentGO:006017310.4GLI3, SHH
15metanephros developmentGO:000165610.4GLI3, SHH
16negative regulation of alpha-beta T cell differentiationGO:004663910.4GLI3, SHH
17negative regulation of cell differentiationGO:004559610.4GLI3, SHH
18negative thymic T cell selectionGO:004506010.4GLI3, SHH
19neuron fate commitmentGO:004866310.4GLI3, SHH
20oligodendrocyte differentiationGO:004870910.4GLI3, SHH
21positive regulation of alpha-beta T cell differentiationGO:004663810.4GLI3, SHH
22positive regulation of neuroblast proliferationGO:000205210.4GLI3, SHH
23positive regulation of protein import into nucleusGO:004230710.4GLI3, SHH
24digestive tract morphogenesisGO:004854610.4GLI1, SHH
25dorsal/ventral neural tube patterningGO:002190410.3GLI2, SHH
26hindbrain developmentGO:003090210.3GLI2, SHH
27osteoblast developmentGO:000207610.3GLI2, SHH
28positive regulation of T cell differentiation in thymusGO:003308910.3GLI2, SHH
29myoblast differentiationGO:004544510.3IGF1, SHH
30smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.2GLI2, GLI3
31smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:002177610.2GLI2, GLI3
32smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:002177510.2GLI2, GLI3
33negative regulation of canonical Wnt signaling pathwayGO:009009010.0GLI1, GLI3, SHH
34anatomical structure developmentGO:004885610.0GLI2, GLI3, SHH
35anatomical structure formation involved in morphogenesisGO:004864610.0GLI2, GLI3, SHH
36anterior/posterior pattern specificationGO:000995210.0GLI2, GLI3, SHH
37axon guidanceGO:000741110.0GLI2, GLI3, SHH
38branching morphogenesis of an epithelial tubeGO:004875410.0GLI2, GLI3, SHH
39embryonic digit morphogenesisGO:004273310.0GLI2, GLI3, SHH
40hindgut morphogenesisGO:000744210.0GLI2, GLI3, SHH
41proximal/distal pattern formationGO:000995410.0GLI1, GLI2, GLI3
42kidney developmentGO:000182210.0GLI2, GLI3, SHH
43odontogenesis of dentin-containing toothGO:004247510.0GLI2, GLI3, SHH
44pattern specification processGO:000738910.0GLI2, GLI3, SHH
45positive regulation of DNA replicationGO:004574010.0GLI1, GLI2, IGF1
46positive regulation of smoothened signaling pathwayGO:004588010.0GLI1, KIF7, SHH
47T cell differentiation in thymusGO:00330779.8GLI3, SHH
48regulation of gene expressionGO:00104689.7GLI3, IGF1, SHH
49tube developmentGO:00352959.7GLI2, GLI3
50spinal cord dorsal/ventral patterningGO:00215139.7GLI2, GLI3, SHH

Sources for Pallister-Hall Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet