PHS
MCID: PLL001
MIFTS: 62

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 57 12 75 24 53 25 59 74 37 29 13 55 6 44 15 40 72
Phs 57 53 25 74
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 57 53
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 74
Hypothalamic Hamartoblastoma Syndrome 59
Pallister Hall Syndrome 53
Hall-Pallister Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Miscellaneous:
variable expressivity
variable severity

Inheritance:
autosomal dominant


HPO:

32
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:



External Ids:

Disease Ontology 12 DOID:9248
OMIM 57 146510
KEGG 37 H00502
MeSH 44 D054975
NCIt 50 C84987
SNOMED-CT 68 56677004
MESH via Orphanet 45 D054975
UMLS via Orphanet 73 C0265220 C0342418
Orphanet 59 ORPHA672
MedGen 42 C0265220
UMLS 72 C0265220

Summaries for Pallister-Hall Syndrome

NIH Rare Diseases : 53 Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly), extra skin between the fingers or toes (syndactyly), an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway known as bifid epiglottis. The bifid epiglottis in rare cases may lead to respiratory failure. While the hypothalamic hamartoma in most cases does not cause problems, in some cases it may cause neurological problems such as seizures, growth hormone deficiency, precocious puberty, or a deficiency of many hormones (panhypopituitarism) that can result in cortisol deficiency. Other symptoms of PHS may include imperforate anus, abnormalities in the kidneys, heart defects, small genitalia, lack of fingers, nail problems, cleft palate, bifid uvula, and development delay and behavioral problems. Pallister-Hall syndrome is caused by mutations in the GLI3 gene. Inheritance is autosomal dominant, however, in about a quarter of cases Pallister-Hall syndrome results from a new (de novo) mutation. The diagnosis of Pallister-Hall syndrome can be made when there is a hypothalamic hamartoma and polydactyly. The genetic test that identifies a mutation in the GLI3 gene confirms the diagnosis. Treatment is based on the symptoms, and may include medication for the early treatment of cortisol deficiency and seizures, surgery for imperforate anus and/or polydactyly, and special education when developmental delays are present. The prognosis depends on which symptoms are present and their severity.

MalaCards based summary : Pallister-Hall Syndrome, also known as phs, is related to culler-jones syndrome and mckusick-kaufman syndrome. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include pituitary, kidney 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 : 57 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996). (146510)

KEGG : 37
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 : 74 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 : 75 Pallister-Hall syndrome is a disorder that affects the development of many parts of the... more...

GeneReviews: NBK1465

Related Diseases for Pallister-Hall Syndrome

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

(show top 50) (show all 1409)
# Related Disease Score Top Affiliating Genes
1 culler-jones syndrome 33.2 GLI3 GLI2
2 mckusick-kaufman syndrome 31.0 MKKS GLI3
3 hypopituitarism 30.5 IGF1 GLI2
4 polydactyly 30.4 SHH MKKS GLI3 GLI2
5 holoprosencephaly 30.2 SHH GLI3 GLI2
6 esophageal atresia 29.9 SHH GLI3 GLI2
7 tracheoesophageal fistula 29.6 SHH GLI3
8 greig cephalopolysyndactyly syndrome 29.4 SHH KIF7 GLI3 GLI2
9 hydrolethalus syndrome 1 29.4 SHH KIF7
10 brain cancer 29.2 SHH GLI3 GLI1
11 basal cell carcinoma 28.1 SHH GLI3 GLI2 GLI1
12 hypothalamic hamartomas 11.9
13 pitt-hopkins syndrome 11.9
14 pulmonary hypertension 11.8
15 paroxysmal hemicrania 11.8
16 distal renal tubular acidosis 11.7
17 leukemia, chronic myeloid 11.7
18 gastroesophageal reflux 11.6
19 metabolic acidosis 11.5
20 lactic acidosis 11.5
21 hyperoxaluria, primary, type iii 11.4
22 helicobacter pylori infection 11.4
23 pheochromocytoma 11.4
24 hyperuricemia 11.4
25 bartter disease 11.4
26 renal tubular acidosis, proximal 11.4
27 osteopetrosis 11.4
28 chronic thromboembolic pulmonary hypertension 11.4
29 hyperphenylalaninemia, bh4-deficient, d 11.4
30 pulmonary hypertension owing to lung disease and/or hypoxia 11.4
31 acid sphingomyelinase deficiency 11.2
32 pulmonary hypertension with unclear multifactorial mechanism 11.2
33 liddle syndrome 1 11.1
34 gitelman syndrome 11.1
35 hypocalcemia, autosomal dominant 1 11.1
36 urinary system disease 11.1
37 pemphigus 11.1
38 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.9
39 anus, imperforate 10.9
40 polydactyly, postaxial, type a1 10.7
41 alzheimer disease 10.7
42 precocious puberty 10.7
43 lung cancer 10.7
44 lymphocytic leukemia 10.7
45 leukemia, acute lymphoblastic 10.7
46 pancreatic ductal adenocarcinoma 10.6
47 esophagitis 10.6
48 helix syndrome 10.6
49 renal dysplasia 10.6
50 central polydactyly 10.6

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:

59 32 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothalamic hamartoma 59 32 very rare (1%) Obligate (100%) HP:0002444
2 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
3 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
4 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
5 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
6 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
7 microtia 59 32 very rare (1%) Frequent (79-30%) HP:0008551
8 anteverted nares 59 32 occasional (7.5%) Frequent (79-30%) HP:0000463
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 broad thumb 59 32 frequent (33%) Frequent (79-30%) HP:0011304
11 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
12 short 4th metacarpal 59 32 occasional (7.5%) Frequent (79-30%) HP:0010044
13 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
14 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
15 microphthalmia 59 32 very rare (1%) Frequent (79-30%) HP:0000568
16 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
17 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
18 hemivertebrae 59 32 very rare (1%) Frequent (79-30%) HP:0002937
19 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
20 anal atresia 59 32 frequent (33%) Frequent (79-30%) HP:0002023
21 rib fusion 59 32 very rare (1%) Frequent (79-30%) HP:0000902
22 nail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002164
23 abnormal basal ganglia mri signal intensity 59 32 frequent (33%) Frequent (79-30%) HP:0012751
24 toe syndactyly 59 32 occasional (7.5%) Frequent (79-30%) HP:0001770
25 atresia of the external auditory canal 59 32 very rare (1%) Frequent (79-30%) HP:0000413
26 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
27 secondary growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008240
28 pituitary hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0008245
29 laryngeal cleft 59 32 frequent (33%) Frequent (79-30%) HP:0008751
30 adrenocorticotropic hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0011748
31 renal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000110
32 recurrent upper and lower respiratory tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0200117
33 radial bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002986
34 accessory oral frenulum 59 32 frequent (33%) Frequent (79-30%) HP:0000191
35 natal tooth 59 32 occasional (7.5%) Frequent (79-30%) HP:0000695
36 abnormal prolactin level 59 32 frequent (33%) Frequent (79-30%) HP:0040086
37 radial head subluxation 59 32 frequent (33%) Frequent (79-30%) HP:0003048
38 supernumerary metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0005917
39 bilateral postaxial polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006136
40 gonadotropin deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008213
41 polydactyly affecting the 3rd finger 59 32 frequent (33%) Frequent (79-30%) HP:0009958
42 polydactyly affecting the 4th finger 59 32 frequent (33%) Frequent (79-30%) HP:0009971
43 central adrenal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0011734
44 3-4 finger cutaneous syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0011939
45 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
46 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
47 global developmental delay 59 32 very rare (1%) Occasional (29-5%) HP:0001263
48 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
49 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
50 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
short nose
anteverted nares
flat nasal bridge

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism
testicular hypoplasia

Head And Neck Eyes:
microphthalmia

Skeletal Spine:
hemivertebrae

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

Cardiovascular Vascular:
patent ductus arteriosus

Growth Other:
intrauterine growth retardation

Genitourinary External Genitalia Male:
micropenis

Cardiovascular Heart:
ventricular septal defect
proximal aortic coarctation

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

MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
2 growth/size/body region MP:0005378 10.08 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
3 craniofacial MP:0005382 10.05 GLI1 GLI2 GLI3 KIF7 MKKS SHH
4 limbs/digits/tail MP:0005371 10.04 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
5 mortality/aging MP:0010768 10.02 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
6 nervous system MP:0003631 10 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
7 cardiovascular system MP:0005385 9.99 GLI3 IGF1 KIF7 MKKS SHH
8 homeostasis/metabolism MP:0005376 9.99 GLI2 GLI3 IGF1 KIF7 MKKS SHH
9 digestive/alimentary MP:0005381 9.97 GLI1 GLI2 GLI3 KIF7 SHH
10 embryo MP:0005380 9.96 GLI1 GLI2 GLI3 KIF7 SHH
11 endocrine/exocrine gland MP:0005379 9.95 GLI1 GLI2 GLI3 IGF1 SHH
12 hearing/vestibular/ear MP:0005377 9.92 GLI2 GLI3 IGF1 MKKS SHH
13 reproductive system MP:0005389 9.87 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
14 no phenotypic analysis MP:0003012 9.83 GLI1 GLI2 GLI3 KIF7 SHH
15 normal MP:0002873 9.8 GLI1 GLI2 GLI3 IGF1 SHH
16 respiratory system MP:0005388 9.8 GLI1 GLI2 GLI3 IGF1 KIF7 MKKS
17 renal/urinary system MP:0005367 9.67 GLI1 GLI3 IGF1 SHH
18 skeleton MP:0005390 9.55 GLI2 GLI3 IGF1 KIF7 SHH
19 taste/olfaction MP:0005394 9.13 GLI3 MKKS SHH
20 vision/eye MP:0005391 9.02 GLI2 GLI3 KIF7 MKKS SHH

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:

41
Pituitary, Kidney, Brain, Heart, Skin, Testes, Thyroid

Publications for Pallister-Hall Syndrome

Articles related to Pallister-Hall Syndrome:

(show top 50) (show all 153)
# Title Authors PMID Year
1
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. 9 38 4 8 71
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. 9 38 4 8
15739154 2005
3
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. 38 8 71
10945658 2000
4
New insights into genotype-phenotype correlation for GLI3 mutations. 38 4 8
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. 38 4 71
10441570 1999
6
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. 9 38 8
9192261 1997
7
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. 38 8
21108399 2010
8
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. 38 71
12545275 2003
9
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. 38 8
11241471 2001
10
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. 38 8
11693785 2001
11
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. 38 8
10982485 2000
12
Pallister-Hall Syndrome 38 71
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]. 38 71
9148633 1997
14
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. 38 8
8950676 1996
15
Report from the workshop on Pallister-Hall syndrome and related phenotypes. 38 8
8914745 1996
16
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. 38 8
8591673 1995
17
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. 38 8
7473651 1995
18
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? 38 8
7760322 1995
19
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome? 38 8
7735503 1995
20
Autosomal dominant transmission of Pallister-Hall syndrome. 38 8
7894735 1994
21
The Pallister-Hall syndrome. 38 8
7815447 1994
22
Familial Pallister-Hall syndrome: three affected offspring. 38 8
7802025 1994
23
Recurrence of Pallister-Hall syndrome in two sibs. 38 8
8182722 1994
24
Autosomal dominant transmission of the Pallister-Hall syndrome. 38 8
8229528 1993
25
Familial Pallister-Hall syndrome: case report and hormonal evaluation. 38 8
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. 38 8
1621756 1992
27
Pallister-Hall syndrome associated with an unbalanced chromosome translocation. 38 8
1605268 1992
28
Extending the Pallister-Hall syndrome to include other central nervous system malformations. 38 8
1746599 1991
29
Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome. 38 8
2596511 1989
30
Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). 38 8
2688416 1989
31
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? 38 8
3425639 1987
32
Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome) 38 8
7057839 1982
33
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. 38 8
7211952 1980
34
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations. 38 8
7211954 1980
35
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. 38 4
26604140 2016
36
Esophageal Atresia/Tracheoesophageal Fistula Overview 71
20301753 2009
37
Significance of bifid epiglottis. 38 4
15782417 2005
38
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. 38 4
15617553 2005
39
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. 38 4
15660767 2005
40
Gonadal mosaicism in severe Pallister-Hall syndrome. 38 4
14708104 2004
41
Pallister-Hall and McKusick-Kaufmann syndromes. 8
7473667 1995
42
Numerical syndromology: a mathematical approach to the nosology of complex phenotypes. 8
7762583 1995
43
The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases. 8
7811428 1994
44
A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? 8
4175523 1968
45
Medical management of epileptic seizures: challenges and solutions. 4
26966367 2016
46
Pregnancy complications in patients with epilepsy. 4
22327733 2012
47
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 4
20672375 2010
48
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. 9 38
19449422 2009
49
High-risk pregnancy management in women with hypopituitarism. 4
19177043 2009
50
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. 9 38
18478223 2008

Variations for Pallister-Hall Syndrome

ClinVar genetic disease variations for Pallister-Hall Syndrome:

6 (show top 50) (show all 231)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GLI3 NM_000168.6(GLI3): c.4431dup (p.Glu1478Ter) duplication Pathogenic rs1057520063 7:42004240-42004240 7:41964642-41964642
2 GLI3 NM_000168.6(GLI3): c.1878del (p.Lys626fs) deletion Pathogenic rs1554306093 7:42012161-42012161 7:41972562-41972562
3 GLI3 NM_000168.6(GLI3): c.4395del (p.Ser1466fs) deletion Pathogenic rs1554304380 7:42004276-42004276 7:41964678-41964678
4 GLI3 NM_000168.6(GLI3): c.1874G> A (p.Arg625Gln) single nucleotide variant Pathogenic rs1554306094 7:42012165-42012165 7:41972566-41972566
5 GLI3 NM_000168.6(GLI3): c.2058_2059delinsAT (p.Glu687Ter) indel Pathogenic rs116840746 7:42011980-42011981 7:41972381-41972382
6 GLI3 NM_000168.6(GLI3): c.2139del (p.Ser712_Cys713insTer) deletion Pathogenic rs116840749 7:42007486-42007486 7:41967888-41967888
7 GLI3 NM_000168.6(GLI3): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs116840751 7:42007476-42007476 7:41967878-41967878
8 GLI3 NM_000168.6(GLI3): c.2197_2198del (p.Thr733fs) deletion Pathogenic rs116840755 7:42007427-42007428 7:41967829-41967830
9 GLI3 NM_000168.6(GLI3): c.2483del (p.Pro828fs) deletion Pathogenic rs116840759 7:42006188-42006188 7:41966590-41966590
10 GLI3 NM_000168.6(GLI3): c.2620del (p.Arg874fs) deletion Pathogenic rs116840761 7:42006051-42006051 7:41966453-41966453
11 GLI3 NM_000168.6(GLI3): c.2799C> G (p.Tyr933Ter) single nucleotide variant Pathogenic rs116840763 7:42005872-42005872 7:41966274-41966274
12 GLI3 NM_000168.6(GLI3): c.3324C> G (p.Tyr1108Ter) single nucleotide variant Pathogenic rs116840766 7:42005347-42005347 7:41965749-41965749
13 GLI3 NM_000168.6(GLI3): c.2567C> A (p.Ser856Ter) single nucleotide variant Pathogenic rs116840760 7:42006104-42006104 7:41966506-41966506
14 GLI3 NM_000168.6(GLI3): c.2628del (p.Ser877fs) deletion Pathogenic rs116840762 7:42006043-42006043 7:41966445-41966445
15 GLI3 NM_000168.6(GLI3): c.2935del (p.Cys979fs) deletion Pathogenic rs116840764 7:42005736-42005736 7:41966138-41966138
16 GLI3 NM_000168.6(GLI3): c.3004del (p.Gly1001_Val1002insTer) deletion Pathogenic rs116840765 7:42005667-42005667 7:41966069-41966069
17 GLI3 NM_000168.6(GLI3): c.2062G> T (p.Glu688Ter) single nucleotide variant Pathogenic rs116840747 7:42011977-42011977 7:41972378-41972378
18 GLI3 NM_000168.6(GLI3): c.2110C> T (p.Gln704Ter) single nucleotide variant Pathogenic rs116840748 7:42007515-42007515 7:41967917-41967917
19 GLI3 NM_000168.6(GLI3): c.3386_3387del (p.Asp1128_Phe1129insTer) deletion Pathogenic rs116840767 7:42005284-42005285 7:41965686-41965687
20 GLI3 NM_000168.6(GLI3): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic rs116840750 7:42007479-42007479 7:41967881-41967881
21 GLI3 NM_000168.6(GLI3): c.3456G> T (p.Glu1152Asp) single nucleotide variant Pathogenic rs116840769 7:42005215-42005215 7:41965617-41965617
22 GLI3 NM_000168.6(GLI3): c.2157del (p.Ile720fs) deletion Pathogenic rs116840752 7:42007468-42007468 7:41967870-41967870
23 GLI3 NM_000168.6(GLI3): c.2172dup (p.Asn725fs) duplication Pathogenic rs116840753 7:42007453-42007453 7:41967855-41967855
24 GLI3 NM_000168.6(GLI3): c.2346_2356del (p.Arg782fs) deletion Pathogenic rs116840756 7:42007269-42007279 7:41967671-41967681
25 GLI3 NM_000168.6(GLI3): c.2351_2355del (p.Lys784fs) deletion Pathogenic rs116840757 7:42007270-42007274 7:41967672-41967676
26 GLI3 NM_000168.6(GLI3): c.2431+1G> A single nucleotide variant Pathogenic rs116840758 7:42007193-42007193 7:41967595-41967595
27 GLI3 NM_000168.6(GLI3): c.2032del (p.Asp678fs) deletion Pathogenic rs116840745 7:42012007-42012007 7:41972408-41972408
28 GLI3 NM_000168.6(GLI3): c.1999_2002CGAC[1] (p.Pro668fs) short repeat Pathogenic rs116840742 7:42012038-42012041 7:41972439-41972442
29 GLI3 NM_000168.6(GLI3): c.3481C> T (p.Gln1161Ter) single nucleotide variant Pathogenic rs116840770 7:42005190-42005190 7:41965592-41965592
30 GLI3 NM_000168.6(GLI3): c.3324C> A (p.Tyr1108Ter) single nucleotide variant Pathogenic rs116840766 7:42005347-42005347 7:41965749-41965749
31 GLI3 NM_000168.6(GLI3): c.2012del (p.Gly671fs) deletion Pathogenic rs116840743 7:42012027-42012027 7:41972428-41972428
32 GLI3 NM_000168.6(GLI3): c.2023del (p.Glu675fs) deletion Pathogenic rs116840744 7:42012016-42012016 7:41972417-41972417
33 GLI3 NM_000168.6(GLI3): c.3439G> T (p.Glu1147Ter) single nucleotide variant Pathogenic rs116840768 7:42005232-42005232 7:41965634-41965634
34 GLI3 NM_000168.5(GLI3): c.2770_2771insNC_012920.1: g.12243..12314 insertion Pathogenic 7:42005900-42005901 7:41966302-41966303
35 GLI3 NM_000168.6(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 7:42079797-42079797 7:42040198-42040198
36 GLI3 NM_000168.6(GLI3): c.2188_2206del (p.Leu730fs) deletion Pathogenic rs116840754 7:42007419-42007437 7:41967821-41967839
37 GLI3 NM_000168.6(GLI3): c.3904_3912delinsT (p.Asn1302fs) indel Pathogenic 7:42004759-42004767 7:41965161-41965169
38 GLI3 NM_000168.6(GLI3): c.4498G> T (p.Glu1500Ter) single nucleotide variant Pathogenic 7:42004173-42004173 7:41964575-41964575
39 GLI3 NM_000168.6(GLI3): c.1451G> A (p.Trp484Ter) single nucleotide variant Pathogenic 7:42063113-42063113 7:42023514-42023514
40 GLI3 NM_000168.6(GLI3): c.1778del (p.Arg593fs) deletion Pathogenic 7:42017191-42017191 7:41977592-41977592
41 GLI3 NM_000168.6(GLI3): c.1433_1434del (p.Ile477_Tyr478insTer) deletion Pathogenic 7:42063130-42063131 7:42023532-42023533
42 GLI3 NM_000168.6(GLI3): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic 7:42065944-42065944 7:42026345-42026345
43 GLI3 NM_000168.6(GLI3): c.753T> G (p.Tyr251Ter) single nucleotide variant Pathogenic 7:42085056-42085056 7:42045457-42045457
44 GLI3 NM_000168.6(GLI3): c.1028+1G> A single nucleotide variant Likely pathogenic rs1375768446 7:42079636-42079636 7:42040037-42040037
45 GLI3 NM_000168.6(GLI3): c.1207G> A (p.Val403Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201070431 7:42065833-42065833 7:42026234-42026234
46 GLI3 NM_000168.6(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 7:42007446-42007446 7:41967848-41967848
47 GLI3 NM_000168.6(GLI3): c.3935T> G (p.Met1312Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199875457 7:42004736-42004736 7:41965138-41965138
48 GLI3 NM_000168.6(GLI3): c.3829C> G (p.Gln1277Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146582871 7:42004842-42004842 7:41965244-41965244
49 GLI3 NM_000168.6(GLI3): c.1485G> A (p.Glu495=) single nucleotide variant Conflicting interpretations of pathogenicity rs149248727 7:42063079-42063079 7:42023480-42023480
50 GLI3 NM_000168.6(GLI3): c.3762T> C (p.Tyr1254=) single nucleotide variant Conflicting interpretations of pathogenicity rs148043302 7:42004909-42004909 7:41965311-41965311

Expression for Pallister-Hall Syndrome

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

Pathways for Pallister-Hall Syndrome

Pathways related to Pallister-Hall Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Pallister-Hall Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.46 KIF7 GLI3 GLI2 GLI1
2 axoneme GO:0005930 9.43 GLI3 GLI2 GLI1
3 ciliary base GO:0097546 9.13 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 76)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.98 SHH IGF1 GLI3 GLI2
2 positive regulation of cell proliferation GO:0008284 9.98 SHH IGF1 GLI2 GLI1
3 positive regulation of transcription, DNA-templated GO:0045893 9.97 SHH IGF1 GLI3 GLI2 GLI1
4 cell proliferation GO:0008283 9.91 SHH IGF1 GLI2
5 negative regulation of gene expression GO:0010629 9.9 SHH MKKS IGF1
6 regulation of gene expression GO:0010468 9.88 SHH IGF1 GLI3
7 axon guidance GO:0007411 9.88 SHH GLI3 GLI2
8 heart development GO:0007507 9.88 SHH MKKS GLI3 GLI2
9 negative regulation of canonical Wnt signaling pathway GO:0090090 9.84 SHH GLI3 GLI1
10 kidney development GO:0001822 9.82 SHH GLI3 GLI2
11 anterior/posterior pattern specification GO:0009952 9.82 SHH GLI3 GLI2
12 pattern specification process GO:0007389 9.8 SHH GLI3 GLI2
13 odontogenesis of dentin-containing tooth GO:0042475 9.79 SHH GLI3 GLI2
14 embryonic digit morphogenesis GO:0042733 9.79 SHH GLI3 GLI2
15 determination of left/right symmetry GO:0007368 9.75 SHH MKKS
16 canonical Wnt signaling pathway GO:0060070 9.75 SHH GLI1
17 forebrain development GO:0030900 9.75 SHH GLI3
18 hippocampus development GO:0021766 9.75 MKKS GLI3
19 roof of mouth development GO:0060021 9.75 SHH GLI3
20 camera-type eye development GO:0043010 9.74 SHH GLI3
21 negative regulation of cell differentiation GO:0045596 9.74 SHH GLI3
22 positive regulation of osteoblast differentiation GO:0045669 9.74 IGF1 GLI3
23 heart looping GO:0001947 9.74 SHH MKKS
24 embryonic limb morphogenesis GO:0030326 9.74 SHH GLI3
25 inner ear development GO:0048839 9.74 SHH GLI3
26 neural tube development GO:0021915 9.73 GLI3 GLI2
27 branching involved in ureteric bud morphogenesis GO:0001658 9.73 SHH GLI3
28 limb development GO:0060173 9.73 SHH GLI3
29 liver regeneration GO:0097421 9.73 GLI3 GLI1
30 metanephros development GO:0001656 9.73 SHH GLI3
31 mammary gland development GO:0030879 9.73 GLI3 GLI2
32 embryonic organ development GO:0048568 9.72 SHH GLI3
33 positive regulation of protein import into nucleus GO:0042307 9.72 SHH GLI3
34 oligodendrocyte differentiation GO:0048709 9.72 SHH GLI3
35 T cell differentiation in thymus GO:0033077 9.72 SHH GLI3
36 positive regulation of smoothened signaling pathway GO:0045880 9.72 SHH KIF7 GLI1
37 pituitary gland development GO:0021983 9.71 GLI2 GLI1
38 neuron fate commitment GO:0048663 9.71 SHH GLI3
39 positive regulation of DNA replication GO:0045740 9.71 GLI2 GLI1
40 developmental growth GO:0048589 9.71 SHH GLI3 GLI2
41 lung development GO:0030324 9.71 SHH GLI3 GLI2 GLI1
42 negative regulation of smoothened signaling pathway GO:0045879 9.7 KIF7 GLI3
43 positive regulation of neuroblast proliferation GO:0002052 9.7 SHH GLI3
44 hindbrain development GO:0030902 9.7 SHH GLI2
45 branching morphogenesis of an epithelial tube GO:0048754 9.7 SHH GLI3 GLI2
46 myoblast differentiation GO:0045445 9.69 SHH IGF1
47 osteoblast development GO:0002076 9.69 SHH GLI2
48 embryonic digestive tract morphogenesis GO:0048557 9.69 SHH GLI3
49 anatomical structure development GO:0048856 9.69 SHH GLI3 GLI2
50 embryonic digestive tract development GO:0048566 9.68 GLI3 GLI2

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 9.13 GLI3 GLI2 GLI1
2 chromatin binding GO:0003682 8.8 GLI3 GLI2 GLI1

Sources for Pallister-Hall Syndrome

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17 EFO
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30 HGMD
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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