PHS
MCID: PLL001
MIFTS: 64

Pallister-Hall Syndrome (PHS) malady

Nephrological, Bone, Endocrine, Fetal, Ear categories

Summaries for Pallister-Hall Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Pallister-hall syndrome can affect of many parts of the body. common signs include extra fingers and/or toes and extra skin between the fingers or toes. people with the syndrome may have an abnormal growth in the brain called a hypothalamic hamartoma. hypothalamic hamartomas often cause no symptoms. rarely, infants with hypothalamic hamartomas develop serious hormone problems or seizures. other signs of pallister-hall syndrome include bifid epiglottis (a malformation of the airway), an obstruction of the anal opening, and kidney abnormalities. the severity of pallister-hall syndrome can be mild to severe, however only a small percentage of people have serious complications. pallister-hall syndrome is caused by a mutation in the gli3 gene. the mutation can be inherited from an affected parent, or can occur for the first time in a family due to a new mutation. last updated: 12/20/2013

MalaCards: Pallister-Hall Syndrome, also known as pallister hall syndrome, is related to mckusick-kaufman syndrome and imperforate anus, and has symptoms including low set ears/posteriorly rotated ears, syndactyly of fingers/interdigital palm and corpus callosum/septum pellucidum total/partial agenesis. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI family zinc finger 3), and among its related pathways are Glypican 3 network and Endochondral Ossification. The compounds 20(s)-hydroxycholesterol and ay 9944 dihydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related mouse phenotypes are integument and taste/olfaction.

Genetics Home Reference:21 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 medical 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.

Description from OMIM:47 146510

GeneReviews summary for phs

Aliases & Classifications for Pallister-Hall Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Nephrological, Bone, Endocrine, Ear


Characteristics (Orphanet epidemiological data):

49
pallister-hall syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pallister-hall syndrome 8 9 19 43 21 47 10 45 49 61
pallister hall syndrome 43 20 22
hypothalamic hamartoblastoma syndrome 21 49
phs 43 21
hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly 43
cerebroacrovisceral early lethality complex 21
hall-pallister syndrome 21
cave complex 21


External Ids:

Disease Ontology8 DOID:9248
NCIt40 C84987
OMIM47 146510
SNOMED-CT57 56677004
MESH via Orphanet36 D054975
ICD10 via Orphanet26 D33.0
SNOMED-CT via Orphanet58 56677004
UMLS via Orphanet62 C0265220

Related Diseases for Pallister-Hall Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to pallister-hall syndrome

Clinical Features for Pallister-Hall Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

146510

Clinical synopsis from OMIM:

146510

Symptoms:

49 (show all 39)
  • low set ears/posteriorly rotated ears
  • syndactyly of fingers/interdigital palm
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • precocious puberty
  • depressed nasal bridge
  • psychic/behavioural troubles
  • short/small nose
  • abnormal vertebral size/shape
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cardiac valvulopathy
  • mesomelic micromelia
  • short hand/brachydactyly
  • patent ductus arteriosus
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • stillbirth/neonatal death
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • cortico-adrenal hypoplasia/insufficiency
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • intrauterine growth retardation
  • multicystic kidney/renal dysplasia
  • agenesis/hypoplasia/aplasia of kidneys
  • micropenis/small penis/agenesis
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • ventricular septal defect/interventricular communication
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • thyroid anomalies
  • syndactyly of toes
  • postaxial polydactyly (hand)
  • postaxial polydactyly of toes/fifth supernumerary toe
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • oral synechiae/abnormal frenulae
  • absent lobe/lung/segmentation defect/abnormal lobulation/sequestration
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails

Drugs & Therapeutics for Pallister-Hall Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Pallister-Hall Syndrome

Drug clinical trials:

Search ClinicalTrials for Pallister-Hall Syndrome

Search NIH Clinical Center for Pallister-Hall Syndrome

Search CenterWatch for Pallister-Hall Syndrome

Genetic Tests for Pallister-Hall Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Pallister-Hall Syndrome:

id Genetic test Affiliating Genes
1 Pallister-hall Syndrome20 22 GLI3

Anatomical Context for Pallister-Hall Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Pallister-Hall Syndrome:

33
Skin, Brain, Kidney, Pituitary

Animal Models for Pallister-Hall Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

37 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.7KLF10, GLI3, PTCH1
2MP:00053949.7GLI3, MKKS
3MP:00030128.7MECOM, SHH, GLI2, GLI3, GLI1, KIF7
4MP:00020068.7KLF10, MECOM, SHH, IGF1, GLI1, PTCH1
5MP:00053698.5MECOM, SHH, IGF1, GLI2, KIF7, PTCH1
6MP:00053818.3ZIC3, SHH, GLI2, GLI3, GLI1, KIF7
7MP:00053868.1ZIC3, GAS1, MECOM, SHH, MKKS, GLI2
8MP:00028737.9ZIC3, MECOM, SHH, IGF1, GLI2, GLI1
9MP:00053897.8ZIC3, MECOM, SHH, IGF1, MKKS, GLI2
10MP:00053917.7MKKS, SHH, GAS1, ZIC3, GLI2, GLI3
11MP:00053767.6MECOM, SHH, IGF1, MKKS, GLI2, GLI3
12MP:00053807.4ZIC3, GAS1, MECOM, SHH, GLI2, GLI3
13MP:00053777.1ZIC3, GAS1, MECOM, SHH, IGF1, MKKS
14MP:00053826.9ZIC3, GAS1, MECOM, SHH, MKKS, GLI2
15MP:00053906.8SHH, MECOM, GAS1, ZIC3, KLF10, IGF1
16MP:00053846.6IGF1, SHH, MECOM, GAS1, KLF10, GLI2
17MP:00053886.6IGF1, SHH, MECOM, GAS1, ZIC3, MKKS
18MP:00053786.5IGF1, SHH, MECOM, GAS1, ZIC3, MKKS
19MP:00053856.4ZIC3, GAS1, MECOM, SHH, IGF1, MKKS
20MP:00053716.3SMO, KLF10, ZIC3, GAS1, MECOM, SHH
21MP:00107686.0MKKS, IGF1, SHH, MECOM, GAS1, ZIC3
22MP:00036315.5HCN3, MKKS, IGF1, SHH, MECOM, GAS1

Publications for Pallister-Hall Syndrome

Sources:
51PubMed
See all sources

Articles related to Pallister-Hall Syndrome:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. (23950073)
2013
2
Cochlear abnormality in a case of Pallister-Hall syndrome. (22890695)
2012
3
Teaching NeuroImages: isolated hypothalamic hamartoma vs Pallister-Hall syndrome: imaging and clinical correlation. (22927681)
2012
4
Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation. (22499313)
2012
5
Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister-Hall syndrome. (21636348)
2011
6
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. (21108399)
2010
7
Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome. (20004865)
2010
8
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. (19449422)
2009
9
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. (18478223)
2008
10
Genitourinary malformations as a feature of the Pallister-Hall syndrome. (16531732)
2006
11
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. (15660767)
2005
12
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. (16007608)
2005
13
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. (15617553)
2005
14
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. (15739154)
2005
15
Gonadal mosaicism in severe Pallister-Hall syndrome. (14708104)
2004
16
Pallister-Hall syndrome with hypoparathyroidism. (15237717)
2004
17
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. (12773293)
2003
18
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. (14523835)
2003
19
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (12575661)
2003
20
Gli 3 mutation in Pallister-Hall syndrome. (12017244)
2002
21
Pallister-Hall syndrome phenotype in mice mutant for Gli3. (11978771)
2002
22
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. (11305791)
2001
23
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. (11693785)
2001
24
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. (11241471)
2001
25
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. (10982485)
2000
26
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. (10945658)
2000
27
Pallister-Hall syndrome: clinical and MR features. (10588106)
1999
28
Pallister-Hall syndrome. (9807095)
1998
29
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (9192261)
1997
30
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. (9054938)
1997
31
Pallister-Hall syndrome. (8818945)
1996
32
Report from the workshop on Pallister-Hall syndrome and related phenotypes. (8914745)
1996
33
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. (8950676)
1996
34
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. (7473651)
1995
35
Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome. (8580638)
1995
36
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? (7760322)
1995
37
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. (8591673)
1995
38
Hypothalamic hamartoma and the Pallister-Hall syndrome. (7577664)
1995
39
Familial Pallister-Hall syndrome: three affected offspring. (7802025)
1994
40
Familial Pallister-Hall syndrome. (7880273)
1994
41
Familial Pallister-Hall syndrome: case report and hormonal evaluation. (8135274)
1993
42
Autosomal dominant transmission of the Pallister-Hall syndrome. (8229528)
1993
43
Pallister-Hall Syndrome (20301638)
1993
44
Pallister-Hall syndrome associated with an unbalanced chromosome translocation. (1605268)
1992
45
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. (1776653)
1991
46
Extending the Pallister-Hall syndrome to include other central nervous system malformations. (1746599)
1991
47
Three additional cases of the congenital hypothalamic &quot;hamartoblastoma&quot; (Pallister-Hall) syndrome. (2596511)
1989
48
Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). (2688416)
1989
49
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? (3425639)
1987
50
Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome) (7057839)
1982

Genetic Variations for Pallister-Hall Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pallister-Hall Syndrome:

63
id Symbol AA change Variation SNP ID
1KIF7p.Pro632LeuVAR_066450rs115857753

Expression for genes affiliated with Pallister-Hall Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Pallister-Hall Syndrome

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

Pathways for genes affiliated with Pallister-Hall Syndrome

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 30KEGG, 60Tocris Bioscience
See all sources

Pathways related to Pallister-Hall Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PTCH1, SHH
29.6PTCH1, GLI3, IGF1
39.4SHH, GLI2, GLI1, PTCH1
4
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
8.7SHH, GLI2, GLI1, PTCH1, SMO
58.7GAS1, SHH, GLI2, PTCH1, SMO
6
Hide members
8.0GAS1, SHH, GLI2, GLI3, GLI1, RAB23
7
Hide members
7.8SAP18, GAS1, SHH, GLI2, GLI3, GLI1
87.8MECOM, SHH, IGF1, GLI2, GLI3, GLI1
97.4SMO, SAP18, PTCH1, RAB23, GLI1, GLI3

Compounds for genes affiliated with Pallister-Hall Syndrome

Sources:
60Tocris Bioscience, 45Novoseek, 24HMDB
See all sources

Compounds related to Pallister-Hall Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
120(s)-hydroxycholesterol609.9SHH, GLI1
2ay 9944 dihydrochloride609.9GLI1, SHH
3ciliobrevin a609.8SHH, GLI1
4sant-1609.6SHH, GLI1
5cyclopamine45 6010.1SMO, PTCH1, GLI1, SHH
6zinc45 249.6KLF10, ZIC3, MECOM, GLI2, GLI3, GLI1

GO Terms for genes affiliated with Pallister-Hall Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Pallister-Hall Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059298.9SMO, KIF27, KIF7, GLI3
2primary ciliumGO:0723728.8SMO, PTCH1, GLI1, GLI3

Biological processes related to Pallister-Hall Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idNameGO IDScoreTop Affiliating Genes
1smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:02177610.4GLI2, GLI3
2smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:02177510.4GLI2, GLI3
3notochord regressionGO:06003210.4GLI1, GLI2
4negative regulation of alpha-beta T cell differentiationGO:04663910.3SHH, GLI3
5cell differentiation involved in kidney developmentGO:06100510.3PTCH1, GLI3
6proximal/distal pattern formationGO:00995410.2GLI2, GLI3, GLI1
7epidermal cell differentiationGO:00991310.2GLI2, GLI1
8developmental growthGO:04858910.2GAS1, GLI2, GLI3
9hindgut morphogenesisGO:00744210.2GLI3, GLI2, SHH
10smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:06083110.1GLI2, GLI3, PTCH1
11ventral midline developmentGO:00741810.1GLI1, GLI2, SHH
12mammary gland duct morphogenesisGO:06060310.1GLI2, PTCH1
13spinal cord dorsal/ventral patterningGO:02151310.1RAB23, GLI2, SHH
14artery developmentGO:06084010.0SHH, GLI3
15lung lobe morphogenesisGO:06046310.0SHH, IGF1
16floor plate formationGO:02150810.0GLI2, SMO
17positive regulation of DNA replicationGO:04574010.0IGF1, GLI2, GLI1
18branching morphogenesis of an epithelial tubeGO:0487549.9SHH, IGF1, GLI2
19dorsal/ventral pattern formationGO:0099539.9SHH, GLI1, PTCH1
20negative regulation of smoothened signaling pathwayGO:0458799.9GAS1, GLI3, KIF7, PTCH1
21branching involved in ureteric bud morphogenesisGO:0016589.9SHH, GLI3, PTCH1
22positive regulation of hh target transcription factor activityGO:0072289.9SHH, SMO
23determination of left/right asymmetry in lateral mesodermGO:0031409.8SHH, SMO
24positive regulation of T cell differentiation in thymusGO:0330899.8GLI2, SHH
25cerebellar cortex morphogenesisGO:0216969.8SMO, GLI1, GLI2
26palate developmentGO:0600219.8GLI3, SHH, GAS1
27positive regulation of protein import into nucleusGO:0423079.7SHH, GLI3, SMO
28heart developmentGO:0075079.7GLI3, GLI2, MKKS, SHH
29negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.7GLI1, GLI3, SHH
30positive regulation of neuroblast proliferationGO:0020529.7SMO, GLI3, SHH
31lung developmentGO:0303249.7ZIC3, SHH, GLI2, GLI3, GLI1
32positive regulation of alpha-beta T cell differentiationGO:0466389.7SHH, GLI3
33dorsal/ventral neural tube patterningGO:0219049.7SMO, SHH, GAS1
34osteoblast differentiationGO:0016499.6GLI2, GLI1, SMO
35embryonic digit morphogenesisGO:0427339.6GAS1, SHH, GLI2, GLI3, RAB23
36somite developmentGO:0610539.6SHH, PTCH1, SMO
37determination of left/right symmetryGO:0073689.6SMO, MKKS, ZIC3
38regulation of smoothened signaling pathwayGO:0085899.6PTCH1, RAB23, GLI1, GLI2, GAS1
39smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:0219389.5SMO, GLI1, GLI2, SHH
40odontogenesis of dentin-containing toothGO:0424759.5SHH, GLI2, GLI3, SMO
41exocrine pancreas developmentGO:0310179.5SMO, IGF1
42positive regulation of epithelial cell proliferationGO:0506799.5GAS1, IGF1, SMO
43heart loopingGO:0019479.4SMO, MKKS, SHH, ZIC3
44positive regulation of smoothened signaling pathwayGO:0458809.3GAS1, SHH, GLI1, KIF7, SMO
45renal system developmentGO:0720019.2MECOM, SHH, PTCH1, SMO
46in utero embryonic developmentGO:0017019.2MECOM, GLI2, GLI3, SMO
47smoothened signaling pathwayGO:0072249.0SHH, GLI2, GLI3, GLI1, PTCH1, SMO
48negative regulation of transcription from RNA polymerase II promoterGO:0001228.9KLF10, SHH, GLI2, GLI3, PTCH1, SMO
49positive regulation of transcription, DNA-dependentGO:0458938.7ZIC3, MECOM, SHH, IGF1, GLI2, GLI3
50positive regulation of transcription from RNA polymerase II promoterGO:0459448.1ZIC3, MECOM, SHH, IGF1, GLI2, GLI3

Molecular functions related to Pallister-Hall Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule bindingGO:0080179.5KIF27, KIF7, GLI1
2patched bindingGO:0051139.2SMO, PTCH1, SHH
3sequence-specific DNA binding transcription factor activityGO:0037008.7KLF10, ZIC3, MECOM, GLI2, GLI3, TCF4
4protein bindingGO:0055155.4SHH, MECOM, GAS1, SAP18, ZIC3, KLF10

Products for genes affiliated with Pallister-Hall Syndrome

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Sources for Pallister-Hall Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet