PHS
MCID: PLL001
MIFTS: 64

Pallister-Hall Syndrome (PHS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pallister-Hall Syndrome

MalaCards integrated aliases for Pallister-Hall Syndrome:

Name: Pallister-Hall Syndrome 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Phs 56 52 25 73
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 56 52
a Syndrome That is Characterized by Hypothalamic Hamartoma, Pituitary Dysfunction, Central Polydactyly, and Visceral Malformations and Has_material_basis_in Autosomal Dominant Heterozygous Mutation in the Gli3 Gene on Chromosome 7p14. 12
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly 73
Hypothalamic Hamartoblastoma Syndrome 58
Pallister Hall Syndrome 52
Hall-Pallister Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
pallister-hall syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile,normal life expectancy;

OMIM:

56
Miscellaneous:
variable expressivity
variable severity

Inheritance:
autosomal dominant


HPO:

31
pallister-hall syndrome:
Clinical modifier neonatal death
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


GeneReviews:

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

Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Pallister-Hall Syndrome

NIH Rare Diseases : 52 Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly ), extra skin between the fingers or toes (syndactyly ), an abnormal growth in the brain called a hypothalamic hamartoma , and a malformation of the airway known as bifid epiglottis . The bifid epiglottis in rare cases may lead to respiratory failure. While the hypothalamic hamartoma in most cases does not cause problems, in some cases it may cause neurological problems such as seizures , growth hormone deficiency, precocious puberty, or a deficiency of many hormones (panhypopituitarism ) that can result in cortisol deficiency . Other symptoms of PHS may include imperforate anus , abnormalities in the kidneys, heart defects, small genitalia, lack of fingers, nail problems, cleft palate , bifid uvula, and development delay and behavioral problems. Pallister-Hall syndrome is caused by mutations in the GLI3 gene . Inheritance is autosomal dominant , however, in about a quarter of cases Pallister-Hall syndrome results from a new (de novo ) mutation. The diagnosis of Pallister-Hall syndrome can be made when there is a hypothalamic hamartoma and polydactyly. The genetic test that identifies a mutation in the GLI3 gene confirms the diagnosis. Treatment is based on the symptoms, and may include medication for the early treatment of cortisol deficiency and seizures, surgery for imperforate anus and/or polydactyly, and special education when developmental delays are present. The prognosis depends on which symptoms are present and their severity.

MalaCards based summary : Pallister-Hall Syndrome, also known as phs, is related to culler-jones syndrome and polydactyly. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include pituitary, heart and brain, and related phenotypes are hypothalamic hamartoma and macrocephaly

Genetics Home Reference : 25 Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any health problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.

OMIM : 56 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996). (146510)

KEGG : 36 Pallister-Hall syndrome is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. Pallister-Hall syndrome is caused by GLI3 mutations.

UniProtKB/Swiss-Prot : 73 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 : 74 Pallister-Hall syndrome (abbreviated PHS) is a disorder that affects the development of many parts of... 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 1442)
# Related Disease Score Top Affiliating Genes
1 culler-jones syndrome 33.1 GLI3 GLI2
2 polydactyly 31.2 SHH MKKS HOXD13 GLI3 GLI2 GLI1
3 hypopituitarism 31.1 SIX3 SHH IGF1 GLI2
4 vater/vacterl association 30.7 HOXD13 FOXF1
5 mckusick-kaufman syndrome 30.6 MKKS GLI3
6 esophageal atresia 30.4 SHH GLI3 GLI2 FOXF1
7 congenital hypopituitarism 30.4 SIX3 SHH IGF1 GLI2
8 synostosis 30.3 SHH HOXD13 GLI3 FGF8
9 hirschsprung disease 1 30.0 SHH PTCH1 IHH GLI3
10 vacterl association 29.9 SHH SALL1 MTHFSD HOXD13 FOXF1
11 skin carcinoma 29.9 SHH PTCH1 GLI2 GLI1
12 brachydactyly 29.9 SHH PTCH1 IHH HOXD13 GLI1
13 diaphragmatic hernia, congenital 29.8 SHH GLI3 FOXF1
14 patau syndrome 29.5 ZIC2 SIX3 SHH
15 anus, imperforate 29.4 TMEM216 SHH SALL1 MTHFSD MKKS HOXD13
16 holoprosencephaly 1 29.3 ZIC2 SIX3 SHH GLI2 GAS1 FGF8
17 neural tube defects 28.6 ZIC2 SHH PTCH1 GLI3 FGF8
18 greig cephalopolysyndactyly syndrome 28.3 ZP2 SHH PTCH1 KIF7 IHH HOXD13
19 holoprosencephaly 28.2 ZIC2 SIX3 SHH PTCH1 IHH GLI3
20 basal cell carcinoma 27.8 SHH PTCH1 KIF7 IHH GLI3 GLI2
21 chromosome 2q35 duplication syndrome 27.7 ZP2 TMEM216 SHH SALL1 PTCH1 MKKS
22 hypothalamic hamartomas 11.9
23 pitt-hopkins syndrome 11.9
24 pulmonary hypertension 11.8
25 paroxysmal hemicrania 11.8
26 leukemia, chronic myeloid 11.7
27 distal renal tubular acidosis 11.6
28 gastroesophageal reflux 11.6
29 mucolipidosis ii alpha/beta 11.5
30 metabolic acidosis 11.5
31 lactic acidosis 11.4
32 hyperoxaluria, primary, type iii 11.4
33 helicobacter pylori infection 11.4
34 pheochromocytoma 11.4
35 hyperuricemia 11.4
36 bartter disease 11.4
37 renal tubular acidosis, proximal 11.4
38 osteopetrosis 11.4
39 chronic thromboembolic pulmonary hypertension 11.4
40 hyperphenylalaninemia, bh4-deficient, d 11.4
41 pulmonary hypertension owing to lung disease and/or hypoxia 11.4
42 inclusion-cell disease 11.2
43 acid sphingomyelinase deficiency 11.2
44 pulmonary hypertension with unclear multifactorial mechanism 11.2
45 liddle syndrome 1 11.1
46 gitelman syndrome 11.1
47 hypocalcemia, autosomal dominant 1 11.1
48 cardiovascular system disease 11.1
49 urinary system disease 11.1
50 pemphigus 11.1

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



Diseases related to Pallister-Hall Syndrome

Symptoms & Phenotypes for Pallister-Hall Syndrome

Human phenotypes related to Pallister-Hall Syndrome:

58 31 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothalamic hamartoma 58 31 very rare (1%) Obligate (100%) HP:0002444
2 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
5 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
6 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
7 microtia 58 31 very rare (1%) Frequent (79-30%) HP:0008551
8 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
11 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
12 anteverted nares 58 31 occasional (7.5%) Frequent (79-30%) HP:0000463
13 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
14 short 4th metacarpal 58 31 occasional (7.5%) Frequent (79-30%) HP:0010044
15 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
16 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
17 microphthalmia 58 31 very rare (1%) Frequent (79-30%) HP:0000568
18 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
19 hemivertebrae 58 31 very rare (1%) Frequent (79-30%) HP:0002937
20 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
21 central adrenal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0011734
22 rib fusion 58 31 very rare (1%) Frequent (79-30%) HP:0000902
23 nail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002164
24 abnormal basal ganglia mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012751
25 toe syndactyly 58 31 occasional (7.5%) Frequent (79-30%) HP:0001770
26 atresia of the external auditory canal 58 31 very rare (1%) Frequent (79-30%) HP:0000413
27 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
28 secondary growth hormone deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008240
29 pituitary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008245
30 laryngeal cleft 58 31 frequent (33%) Frequent (79-30%) HP:0008751
31 adrenocorticotropic hormone deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0011748
32 renal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000110
33 recurrent upper and lower respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0200117
34 radial bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002986
35 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
36 natal tooth 58 31 occasional (7.5%) Frequent (79-30%) HP:0000695
37 abnormal prolactin level 58 31 frequent (33%) Frequent (79-30%) HP:0040086
38 radial head subluxation 58 31 frequent (33%) Frequent (79-30%) HP:0003048
39 supernumerary metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0005917
40 bilateral postaxial polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006136
41 gonadotropin deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008213
42 polydactyly affecting the 3rd finger 58 31 frequent (33%) Frequent (79-30%) HP:0009958
43 polydactyly affecting the 4th finger 58 31 frequent (33%) Frequent (79-30%) HP:0009971
44 3-4 finger cutaneous syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0011939
45 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
46 global developmental delay 58 31 very rare (1%) Occasional (29-5%) HP:0001263
47 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
48 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
49 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
50 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
short nose
anteverted nares
flat nasal bridge

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary External Genitalia Male:
micropenis

Skin Nails Hair Nails:
nail dysplasia

Endocrine Features:
panhypopituitarism
adrenal gland hypoplasia
thyroid dysplasia/aplasia

Respiratory Larynx:
laryngeal cleft
bifid epiglottis
hypoplastic epiglottis

Skin Nails Hair Skin:
midline facial capillary hemangioma

Head And Neck Mouth:
microglossia
multiple buccal frenula
cleft lip and palate

Skeletal Limbs:
distal shortening of limbs
radial subluxation

Skeletal Pelvis:
dislocated hips

Head And Neck Teeth:
natal teeth

Head And Neck Ears:
microtia
posteriorly rotated ears
simple auricles
absent external auditory canals

Genitourinary Internal Genitalia Male:
cryptorchidism
testicular hypoplasia

Cardiovascular Heart:
ventricular septal defect
proximal aortic coarctation

Head And Neck Eyes:
microphthalmia

Skeletal Spine:
hemivertebrae

Skeletal Hands:
oligodactyly
syndactyly
postaxial polydactyly
short 4th metacarpals

Respiratory Lung:
abnormal lung lobation

Genitourinary Kidneys:
renal dysplasia
renal ectopia

Skeletal Feet:
syndactyly
postaxial polydactyly

Neurologic Central Nervous System:
hypothalamic hamartoma
holoprosencephaly (less common)
pituitary aplasia or dysplasia

Abdomen Gastrointestinal:
imperforate anus

Chest Ribs Sternum Clavicles And Scapulae:
fused ribs

Clinical features from OMIM:

146510

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.62 FGF8 FOXF1 GAS1 GLI1 GLI2 GLI3
2 Increased replication of vaccinia virus (VACV) GR00362-A 9.43 FOXF1 GLI1 IHH SALL1 USH1C ZIC2

MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.44 FGF8 GAS1 GLI1 GLI2 GLI3 HOXD13
2 cellular MP:0005384 10.43 FGF8 GAS1 GLI1 GLI2 GLI3 IGF1
3 embryo MP:0005380 10.43 FGF8 FOXF1 GAS1 GLI1 GLI2 GLI3
4 digestive/alimentary MP:0005381 10.41 FGF8 FOXF1 GLI1 GLI2 GLI3 HOXD13
5 mortality/aging MP:0010768 10.4 FGF8 FOXF1 GAS1 GLI1 GLI2 GLI3
6 cardiovascular system MP:0005385 10.37 FGF8 FOXF1 GAS1 GLI3 IGF1 IHH
7 limbs/digits/tail MP:0005371 10.36 FGF8 GAS1 GLI1 GLI2 GLI3 HOXD13
8 craniofacial MP:0005382 10.35 FGF8 GAS1 GLI1 GLI2 GLI3 IHH
9 nervous system MP:0003631 10.33 FGF8 GAS1 GLI1 GLI2 GLI3 IGF1
10 endocrine/exocrine gland MP:0005379 10.29 FGF8 GLI1 GLI2 GLI3 HOXD13 IGF1
11 hearing/vestibular/ear MP:0005377 10.22 FGF8 GAS1 GLI2 GLI3 IGF1 MKKS
12 muscle MP:0005369 10.13 FGF8 FOXF1 GLI2 HOXD13 IGF1 IHH
13 reproductive system MP:0005389 10.1 FGF8 GLI1 GLI2 GLI3 HOXD13 IGF1
14 respiratory system MP:0005388 10.1 FGF8 FOXF1 GAS1 GLI1 GLI2 GLI3
15 normal MP:0002873 10.06 FGF8 GLI1 GLI2 GLI3 IGF1 PTCH1
16 no phenotypic analysis MP:0003012 10.03 GLI1 GLI2 GLI3 HOXD13 IHH KIF7
17 skeleton MP:0005390 10 FGF8 GAS1 GLI2 GLI3 HOXD13 IGF1
18 renal/urinary system MP:0005367 9.97 FGF8 GLI1 GLI3 HOXD13 IGF1 PTCH1
19 vision/eye MP:0005391 9.44 FGF8 GAS1 GLI2 GLI3 HOXD13 IHH
20 taste/olfaction MP:0005394 9.35 GLI3 MKKS PTCH1 SHH SIX3

Drugs & Therapeutics for Pallister-Hall Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic and Clinical Studies of Congenital Anomaly Syndromes 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:

40
Pituitary, Heart, Brain, Kidney, Skin, Bone, Lung

Publications for Pallister-Hall Syndrome

Articles related to Pallister-Hall Syndrome:

(show top 50) (show all 158)
# Title Authors PMID Year
1
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. 54 61 24 56 6
9054938 1997
2
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 54 61 24 56
15739154 2005
3
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. 61 56 6
10945658 2000
4
New insights into genotype-phenotype correlation for GLI3 mutations. 61 24 56
24736735 2015
5
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 61 24 6
10441570 1999
6
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. 54 61 56
9192261 1997
7
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. 61 56
21108399 2010
8
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. 61 6
12545275 2003
9
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. 61 56
11241471 2001
10
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. 61 56
11693785 2001
11
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. 61 56
10982485 2000
12
Pallister-Hall Syndrome 61 6
20301638 2000
13
[The Pallister-Hall syndrome--a rare case and an example of the differentiated approach to the treatment of hormonally inactive hypothalamic hamartomas]. 61 6
9148633 1997
14
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. 61 56
8950676 1996
15
Report from the workshop on Pallister-Hall syndrome and related phenotypes. 61 56
8914745 1996
16
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. 61 56
8591673 1995
17
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. 61 56
7473651 1995
18
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? 61 56
7760322 1995
19
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome? 61 56
7735503 1995
20
Autosomal dominant transmission of Pallister-Hall syndrome. 61 56
7894735 1994
21
The Pallister-Hall syndrome. 61 56
7815447 1994
22
Familial Pallister-Hall syndrome: three affected offspring. 61 56
7802025 1994
23
Recurrence of Pallister-Hall syndrome in two sibs. 61 56
8182722 1994
24
Autosomal dominant transmission of the Pallister-Hall syndrome. 61 56
8229528 1993
25
Familial Pallister-Hall syndrome: case report and hormonal evaluation. 61 56
8135274 1993
26
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. 61 56
1621756 1992
27
Pallister-Hall syndrome associated with an unbalanced chromosome translocation. 61 56
1605268 1992
28
Extending the Pallister-Hall syndrome to include other central nervous system malformations. 61 56
1746599 1991
29
Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). 61 56
2688416 1989
30
Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome. 61 56
2596511 1989
31
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? 61 56
3425639 1987
32
Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome) 61 56
7057839 1982
33
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. 61 56
7211952 1980
34
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations. 61 56
7211954 1980
35
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. 61 24
26604140 2016
36
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
37
Significance of bifid epiglottis. 61 24
15782417 2005
38
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. 61 24
15660767 2005
39
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. 61 24
15617553 2005
40
Gonadal mosaicism in severe Pallister-Hall syndrome. 61 24
14708104 2004
41
Pallister-Hall and McKusick-Kaufmann syndromes. 56
7473667 1995
42
Numerical syndromology: a mathematical approach to the nosology of complex phenotypes. 56
7762583 1995
43
The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases. 56
7811428 1994
44
A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? 56
4175523 1968
45
Medical management of epileptic seizures: challenges and solutions. 24
26966367 2016
46
Pregnancy complications in patients with epilepsy. 24
22327733 2012
47
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 24
20672375 2010
48
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. 54 61
19449422 2009
49
High-risk pregnancy management in women with hypopituitarism. 24
19177043 2009
50
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. 54 61
18478223 2008

Variations for Pallister-Hall Syndrome

ClinVar genetic disease variations for Pallister-Hall Syndrome:

6 (show top 50) (show all 221) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLI3 NM_000168.6(GLI3):c.2172dup (p.Asn725fs)duplication Pathogenic 38311 rs116840753 7:42007452-42007453 7:41967854-41967855
2 GLI3 NM_000168.6(GLI3):c.2197_2198del (p.Thr733fs)deletion Pathogenic 38312 rs116840755 7:42007427-42007428 7:41967829-41967830
3 GLI3 NM_000168.6(GLI3):c.2431+1G>ASNV Pathogenic 38315 rs116840758 7:42007193-42007193 7:41967595-41967595
4 GLI3 NM_000168.6(GLI3):c.2620del (p.Arg874fs)deletion Pathogenic 38318 rs116840761 7:42006051-42006051 7:41966453-41966453
5 GLI3 NM_000168.6(GLI3):c.2628del (p.Ser877fs)deletion Pathogenic 38319 rs116840762 7:42006043-42006043 7:41966445-41966445
6 GLI3 NM_000168.6(GLI3):c.3004del (p.Gly1001_Val1002insTer)deletion Pathogenic 38322 rs116840765 7:42005667-42005667 7:41966069-41966069
7 GLI3 NM_000168.6(GLI3):c.3324C>G (p.Tyr1108Ter)SNV Pathogenic 38323 rs116840766 7:42005347-42005347 7:41965749-41965749
8 GLI3 NM_000168.6(GLI3):c.2935del (p.Cys979fs)deletion Pathogenic 38321 rs116840764 7:42005736-42005736 7:41966138-41966138
9 GLI3 NM_000168.6(GLI3):c.3386_3387del (p.Asp1128_Phe1129insTer)deletion Pathogenic 38324 rs116840767 7:42005284-42005285 7:41965686-41965687
10 GLI3 NM_000168.6(GLI3):c.3456G>T (p.Glu1152Asp)SNV Pathogenic 38325 rs116840769 7:42005215-42005215 7:41965617-41965617
11 GLI3 NM_000168.6(GLI3):c.2346_2356del (p.Arg782fs)deletion Pathogenic 38313 rs116840756 7:42007269-42007279 7:41967671-41967681
12 GLI3 NM_000168.6(GLI3):c.2483del (p.Pro828fs)deletion Pathogenic 38316 rs116840759 7:42006188-42006188 7:41966590-41966590
13 GLI3 NM_000168.6(GLI3):c.2157del (p.Ile720fs)deletion Pathogenic 38310 rs116840752 7:42007468-42007468 7:41967870-41967870
14 GLI3 NM_000168.6(GLI3):c.2567C>A (p.Ser856Ter)SNV Pathogenic 38317 rs116840760 7:42006104-42006104 7:41966506-41966506
15 GLI3 NM_000168.6(GLI3):c.2351_2355del (p.Lys784fs)deletion Pathogenic 38314 rs116840757 7:42007270-42007274 7:41967672-41967676
16 GLI3 NM_000168.6(GLI3):c.2799C>G (p.Tyr933Ter)SNV Pathogenic 38320 rs116840763 7:42005872-42005872 7:41966274-41966274
17 GLI3 NM_000168.6(GLI3):c.1999_2002CGAC[1] (p.Pro668fs)short repeat Pathogenic 38302 rs116840742 7:42012033-42012036 7:41972434-41972437
18 GLI3 NM_000168.6(GLI3):c.2032del (p.Asp678fs)deletion Pathogenic 38303 rs116840745 7:42012007-42012007 7:41972408-41972408
19 GLI3 NM_000168.6(GLI3):c.2058_2059delinsAT (p.Glu687Ter)indel Pathogenic 38304 rs116840746 7:42011980-42011981 7:41972381-41972382
20 GLI3 NM_000168.6(GLI3):c.2062G>T (p.Glu688Ter)SNV Pathogenic 38305 rs116840747 7:42011977-42011977 7:41972378-41972378
21 GLI3 NM_000168.6(GLI3):c.2110C>T (p.Gln704Ter)SNV Pathogenic 38306 rs116840748 7:42007515-42007515 7:41967917-41967917
22 GLI3 NM_000168.6(GLI3):c.2139del (p.Ser712_Cys713insTer)deletion Pathogenic 38307 rs116840749 7:42007486-42007486 7:41967888-41967888
23 GLI3 NM_000168.6(GLI3):c.2146C>T (p.Gln716Ter)SNV Pathogenic 38308 rs116840750 7:42007479-42007479 7:41967881-41967881
24 GLI3 NM_000168.6(GLI3):c.2149C>T (p.Gln717Ter)SNV Pathogenic 38309 rs116840751 7:42007476-42007476 7:41967878-41967878
25 GLI3 NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter)SNV Pathogenic 38326 rs116840770 7:42005190-42005190 7:41965592-41965592
26 GLI3 NM_000168.6(GLI3):c.2188_2206del (p.Leu730fs)deletion Pathogenic 13829 rs116840754 7:42007419-42007437 7:41967821-41967839
27 GLI3 NM_000168.6(GLI3):c.2023del (p.Glu675fs)deletion Pathogenic 13814 rs116840744 7:42012016-42012016 7:41972417-41972417
28 GLI3 NM_000168.6(GLI3):c.2012del (p.Gly671fs)deletion Pathogenic 13815 rs116840743 7:42012027-42012027 7:41972428-41972428
29 GLI3 NM_000168.6(GLI3):c.3439G>T (p.Glu1147Ter)SNV Pathogenic 13818 rs116840768 7:42005232-42005232 7:41965634-41965634
30 GLI3 NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter)SNV Pathogenic 13820 rs121917709 7:42012112-42012112 7:41972513-41972513
31 GLI3 NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314insertion Pathogenic 13823 7:42005900-42005901 7:41966302-41966303
32 GLI3 NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)SNV Pathogenic 13826 rs121917713 7:42079797-42079797 7:42040198-42040198
33 GLI3 NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter)duplication Pathogenic 376814 rs1057520063 7:42004239-42004240 7:41964641-41964642
34 GLI3 NM_000168.6(GLI3):c.1878del (p.Lys626fs)deletion Pathogenic 459207 rs1554306093 7:42012161-42012161 7:41972562-41972562
35 GLI3 NM_000168.6(GLI3):c.4395del (p.Ser1466fs)deletion Pathogenic 459213 rs1554304380 7:42004276-42004276 7:41964678-41964678
36 GLI3 NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)SNV Pathogenic 528805 rs1554306094 7:42012165-42012165 7:41972566-41972566
37 GLI3 NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)SNV Pathogenic 528800 rs116840766 7:42005347-42005347 7:41965749-41965749
38 GLI3 NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs)indel Pathogenic 577666 rs1562657560 7:42004759-42004767 7:41965161-41965169
39 GLI3 NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter)SNV Pathogenic 566915 rs1562656759 7:42004173-42004173 7:41964575-41964575
40 GLI3 NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)SNV Pathogenic 578154 rs1562690271 7:42063113-42063113 7:42023514-42023514
41 GLI3 NM_000168.6(GLI3):c.1778del (p.Arg593fs)deletion Pathogenic 642780 7:42017191-42017191 7:41977592-41977592
42 GLI3 NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer)deletion Pathogenic 651052 7:42063130-42063131 7:42023531-42023532
43 GLI3 NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)SNV Pathogenic 664752 7:42065944-42065944 7:42026345-42026345
44 GLI3 NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)SNV Pathogenic 645072 7:42085056-42085056 7:42045457-42045457
45 GLI3 NM_000168.6(GLI3):c.1028+1G>ASNV Likely pathogenic 528802 rs1375768446 7:42079636-42079636 7:42040037-42040037
46 GLI3 NM_000168.6(GLI3):c.1800G>A (p.Thr600=)SNV Conflicting interpretations of pathogenicity 360243 rs138445547 7:42017169-42017169 7:41977570-41977570
47 GLI3 NM_000168.6(GLI3):c.411T>C (p.Ile137=)SNV Conflicting interpretations of pathogenicity 360257 rs200203051 7:42116413-42116413 7:42076814-42076814
48 GLI3 NM_000168.6(GLI3):c.99C>T (p.Ala33=)SNV Conflicting interpretations of pathogenicity 360262 rs201109218 7:42262754-42262754 7:42223155-42223155
49 GLI3 NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)SNV Conflicting interpretations of pathogenicity 13821 rs121917710 7:42007446-42007446 7:41967848-41967848
50 GLI3 NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)SNV Conflicting interpretations of pathogenicity 283130 rs199875457 7:42004736-42004736 7:41965138-41965138

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:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.73 SHH PTCH1 KIF7 IGF1 GLI3 GLI2
2
Show member pathways
12.45 SHH PTCH1 KIF7 GLI3 GLI2 GLI1
3
Show member pathways
12.4 SHH PTCH1 KIF7 IHH GLI3 GLI2
4 12.15 SHH PTCH1 IHH IGF1
5 12.09 SHH PTCH1 GLI2 GLI1
6 11.63 SHH IGF1 FGF8
7 11.61 PTCH1 IHH IGF1 GLI3
8 11.41 SHH PTCH1 GLI3 GLI2 GLI1
9 11.37 SHH IGF1 FGF8
10 11.31 SHH PTCH1 IHH GLI2 GLI1
11 11.21 SHH GLI2 GLI1 FGF8
12
Show member pathways
11.03 SHH PTCH1 IHH GLI2 GAS1
13 10.92 SHH PTCH1 KIF7 IHH GLI3 GLI2
14
Show member pathways
10.78 SHH PTCH1 KIF7 IHH GLI3 GLI2
15 10.59 SHH GLI3 FGF8
16 10.45 SHH PTCH1

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 axoneme GO:0005930 9.43 GLI3 GLI2 GLI1
2 cilium GO:0005929 9.43 TMEM216 PTCH1 KIF7 GLI3 GLI2 GLI1
3 ciliary base GO:0097546 9.33 GLI3 GLI2 GLI1
4 ciliary tip GO:0097542 8.92 KIF7 GLI3 GLI2 GLI1

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

(show top 50) (show all 91)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.31 ZIC2 SIX3 SHH IHH HOXD13 GLI2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.25 SIX3 SHH SALL1 IHH IGF1 HOXD13
3 cell differentiation GO:0030154 10.24 ZIC2 USH1C IHH GLI2 GLI1 FGF8
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.23 SHH SALL1 PTCH1 GLI3 GLI2 FOXF1
5 negative regulation of apoptotic process GO:0043066 10.21 SHH IHH IGF1 GLI3 GLI2 FGF8
6 positive regulation of cell proliferation GO:0008284 10.21 SHH IHH IGF1 GLI2 GLI1 FGF8
7 negative regulation of transcription, DNA-templated GO:0045892 10.16 ZIC2 SIX3 SALL1 PTCH1 GLI3
8 in utero embryonic development GO:0001701 10.09 PTCH1 IHH GLI3 GLI2 FOXF1
9 positive regulation of transcription, DNA-templated GO:0045893 10.09 ZIC2 SHH SALL1 PTCH1 IGF1 GLI3
10 regulation of cell proliferation GO:0042127 10.08 SIX3 SHH PTCH1 HOXD13 GLI3
11 brain development GO:0007420 10.06 ZIC2 SIX3 PTCH1 GLI3
12 regulation of gene expression GO:0010468 10.06 SHH IHH IGF1 GLI3
13 skeletal system development GO:0001501 10.04 IHH IGF1 HOXD13 GLI2
14 kidney development GO:0001822 10.03 SHH SALL1 GLI3 GLI2 FGF8
15 anterior/posterior pattern specification GO:0009952 10.02 SHH HOXD13 GLI3 GLI2
16 heart development GO:0007507 10 SHH SALL1 MKKS GLI3 GLI2 FOXF1
17 determination of left/right symmetry GO:0007368 9.97 SHH MKKS FOXF1 FGF8
18 camera-type eye development GO:0043010 9.97 SIX3 SHH IHH GLI3
19 heart looping GO:0001947 9.96 SHH MKKS IHH FGF8
20 embryonic limb morphogenesis GO:0030326 9.95 SHH PTCH1 HOXD13 GLI3
21 osteoblast differentiation GO:0001649 9.94 IHH GLI2 GLI1
22 cell fate commitment GO:0045165 9.93 SHH GAS1 FGF8
23 negative regulation of cell differentiation GO:0045596 9.93 SHH IHH GLI3
24 anatomical structure development GO:0048856 9.93 SIX3 SHH GLI3 GLI2
25 odontogenesis of dentin-containing tooth GO:0042475 9.92 SHH GLI3 GLI2
26 limb development GO:0060173 9.91 SHH SALL1 GLI3
27 metanephros development GO:0001656 9.91 SHH GLI3 FGF8
28 embryonic organ development GO:0048568 9.91 SHH PTCH1 GLI3
29 positive regulation of smoothened signaling pathway GO:0045880 9.91 SHH KIF7 IHH GLI1
30 liver regeneration GO:0097421 9.91 PTCH1 IHH GLI3 GLI1
31 mammary gland development GO:0030879 9.9 PTCH1 GLI3 GLI2
32 pituitary gland development GO:0021983 9.9 SIX3 SALL1 GLI2 GLI1
33 pancreas development GO:0031016 9.89 SHH IHH FOXF1
34 telencephalon development GO:0021537 9.89 SIX3 GLI3 FGF8
35 branching involved in blood vessel morphogenesis GO:0001569 9.89 SHH IHH FGF8
36 branching morphogenesis of an epithelial tube GO:0048754 9.88 SHH GLI3 GLI2
37 developmental growth GO:0048589 9.88 SHH GLI3 GLI2 GAS1
38 limb morphogenesis GO:0035108 9.88 PTCH1 HOXD13 GLI3 FGF8
39 positive regulation of mesenchymal cell proliferation GO:0002053 9.87 SHH IHH FOXF1
40 proximal/distal pattern formation GO:0009954 9.87 GLI3 GLI2 GLI1
41 regulation of smoothened signaling pathway GO:0008589 9.87 PTCH1 GLI1 GAS1
42 negative regulation of smoothened signaling pathway GO:0045879 9.87 PTCH1 KIF7 GLI3
43 lung morphogenesis GO:0060425 9.86 SHH FOXF1 FGF8
44 male genitalia development GO:0030539 9.86 SHH HOXD13 FGF8
45 anatomical structure formation involved in morphogenesis GO:0048646 9.85 SHH GLI3 GLI2
46 somite development GO:0061053 9.85 SHH PTCH1 IHH
47 spinal cord motor neuron differentiation GO:0021522 9.84 SHH PTCH1 GLI3 GLI2
48 dorsal/ventral neural tube patterning GO:0021904 9.83 SHH PTCH1 GLI2
49 gonad development GO:0008406 9.83 SALL1 MKKS FGF8
50 renal system development GO:0072001 9.82 SHH PTCH1 FOXF1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 SALL1 HOXD13 GLI3 GLI2 GLI1
2 DNA-binding transcription factor activity GO:0003700 9.7 ZIC2 SIX3 SALL1 HOXD13 GLI3 GLI2
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 SIX3 HOXD13 GLI3 GLI2 FOXF1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 ZIC2 SIX3 SALL1 HOXD13 GLI3 GLI2
5 patched binding GO:0005113 8.8 SHH PTCH1 IHH

Sources for Pallister-Hall Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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