PHS
MCID: PLL001
MIFTS: 71

Pallister-Hall Syndrome (PHS) malady

Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Ear diseases categories

Summaries for Pallister-Hall Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 leukemia and imperforate anus, and has symptoms including patent ductus arteriosus, ventricular septal defect/interventricular communication and cardiac valvulopathy. 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 kidney, brain and skin, 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:46 146510

GeneReviews summary for phs

Aliases & Classifications for Pallister-Hall Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
pallister-hall syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pallister-hall syndrome 8 9 19 42 21 46 10 44 48 60
pallister hall syndrome 42 20 22
hypothalamic hamartoblastoma syndrome 21 48
phs 42 21
hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly 42
cerebroacrovisceral early lethality complex 21
hall-pallister syndrome 21
cave complex 21


External Ids:

Disease Ontology8 DOID:9248
NCIt39 C84987
OMIM46 146510
SNOMED-CT56 56677004
MESH via Orphanet35 D054975
ICD10 via Orphanet26 D33.0
SNOMED-CT via Orphanet57 56677004
UMLS via Orphanet61 C0265220

Related Diseases for Pallister-Hall Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pallister-Hall Syndrome:



Diseases related to pallister-hall syndrome

Clinical Features for Pallister-Hall Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

146510

Clinical synopsis from OMIM:

146510

Symptoms:

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

Drugs & Therapeutics for Pallister-Hall Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Pallister-Hall Syndrome

Genetic Tests for Pallister-Hall Syndrome

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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

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32MalaCards
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MalaCards organs/tissues related to Pallister-Hall Syndrome:

32
Kidney, Brain, Skin, Pituitary, Testes, Thyroid, Hypothalamus, Tongue, Bone, Lung

Animal Models for Pallister-Hall Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

36 (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

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50PubMed
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Articles related to Pallister-Hall Syndrome:

(show top 50)    (show all 57)
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
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome. (19793630)
2010
8
Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome. (20004865)
2010
9
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. (19449422)
2009
10
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. (18478223)
2008
11
Genitourinary malformations as a feature of the Pallister-Hall syndrome. (16531732)
2006
12
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. (15660767)
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
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (15046066)
2004
16
Gonadal mosaicism in severe Pallister-Hall syndrome. (14708104)
2004
17
Pallister-Hall syndrome with hypoparathyroidism. (15237717)
2004
18
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. (12773293)
2003
19
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. (14523835)
2003
20
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (12575661)
2003
21
Gli 3 mutation in Pallister-Hall syndrome. (12017244)
2002
22
Pallister-Hall syndrome phenotype in mice mutant for Gli3. (11978771)
2002
23
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. (11305791)
2001
24
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. (11693785)
2001
25
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. (10945658)
2000
26
Pallister-Hall syndrome: clinical and MR features. (10588106)
1999
27
Pallister-Hall syndrome. (9615516)
1998
28
Pallister-Hall syndrome. (9807095)
1998
29
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (9192261)
1997
30
Pallister-Hall syndrome. (8818945)
1996
31
Report from the workshop on Pallister-Hall syndrome and related phenotypes. (8914745)
1996
32
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. (8950676)
1996
33
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. (7473651)
1995
34
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? (7760322)
1995
35
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. (8591673)
1995
36
Hypothalamic hamartoma and the Pallister-Hall syndrome. (7577664)
1995
37
The Pallister-Hall syndrome. (7815447)
1994
38
Familial Pallister-Hall syndrome. (8021773)
1994
39
Familial Pallister-Hall syndrome: three affected offspring. (7802025)
1994
40
Recurrence of Pallister-Hall syndrome in two sibs. (8182722)
1994
41
Autosomal dominant transmission of Pallister-Hall syndrome. (7894735)
1994
42
Familial Pallister-Hall syndrome: case report and hormonal evaluation. (8135274)
1993
43
Autosomal dominant transmission of the Pallister-Hall syndrome. (8229528)
1993
44
Pallister-Hall Syndrome (20301638)
1993
45
Pallister-Hall syndrome associated with an unbalanced chromosome translocation. (1605268)
1992
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
A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome). (3146300)
1986
50
Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome) (7057839)
1982

Genetic Variations for Pallister-Hall Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Pallister-Hall Syndrome:

62
id Symbol AA change Variation ID SNP ID
1KIF7p.Pro632LeuVAR_066450rs115857753

Expression for genes affiliated with Pallister-Hall Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 29KEGG, 59Tocris Bioscience
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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
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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

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59Tocris Bioscience, 44Novoseek, 24HMDB
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Compounds related to Pallister-Hall Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
120(s)-hydroxycholesterol599.9SHH, GLI1
2ay 9944 dihydrochloride599.9GLI1, SHH
3ciliobrevin a599.8SHH, GLI1
4sant-1599.6SHH, GLI1
5cyclopamine44 5910.1SMO, PTCH1, GLI1, SHH
6zinc44 249.6KLF10, ZIC3, MECOM, GLI2, GLI3, GLI1

GO Terms for genes affiliated with Pallister-Hall Syndrome

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16Gene Ontology
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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
1notochord regressionGO:06003210.4GLI2, GLI1
2smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:02177510.4GLI3, GLI2
3smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:02177610.4GLI2, GLI3
4negative regulation of alpha-beta T cell differentiationGO:04663910.3GLI3, SHH
5cell differentiation involved in kidney developmentGO:06100510.3PTCH1, GLI3
6proximal/distal pattern formationGO:00995410.2GLI2, GLI1, GLI3
7epidermal cell differentiationGO:00991310.2GLI1, GLI2
8developmental growthGO:04858910.2GAS1, GLI2, GLI3
9hindgut morphogenesisGO:00744210.2GLI2, GLI3, SHH
10smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:06083110.1PTCH1, GLI3, GLI2
11ventral midline developmentGO:00741810.1GLI1, SHH, GLI2
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, GLI1, GLI2
18branching morphogenesis of an epithelial tubeGO:0487549.9IGF1, GLI2, SHH
19positive regulation of T cell differentiation in thymusGO:0330899.9GLI2, SHH
20dorsal/ventral pattern formationGO:0099539.9PTCH1, GLI1, SHH
21negative regulation of smoothened signaling pathwayGO:0458799.9GLI3, KIF7, PTCH1, GAS1
22branching involved in ureteric bud morphogenesisGO:0016589.9GLI3, PTCH1, SHH
23determination of left/right asymmetry in lateral mesodermGO:0031409.9SMO, SHH
24positive regulation of hh target transcription factor activityGO:0072289.9SMO, SHH
25cerebellar cortex morphogenesisGO:0216969.8SMO, GLI1, GLI2
26palate developmentGO:0600219.8GAS1, GLI3, SHH
27positive regulation of protein import into nucleusGO:0423079.7SHH, GLI3, SMO
28heart developmentGO:0075079.7SHH, MKKS, GLI2, GLI3
29negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.7GLI1, GLI3, SHH
30positive regulation of neuroblast proliferationGO:0020529.7SHH, GLI3, SMO
31lung developmentGO:0303249.7ZIC3, SHH, GLI3, GLI2, GLI1
32positive regulation of alpha-beta T cell differentiationGO:0466389.7SHH, GLI3
33dorsal/ventral neural tube patterningGO:0219049.7SMO, SHH, GAS1
34osteoblast differentiationGO:0016499.6SMO, GLI1, GLI2
35embryonic digit morphogenesisGO:0427339.6SHH, GAS1, GLI3, RAB23, GLI2
36somite developmentGO:0610539.6SMO, PTCH1, SHH
37determination of left/right symmetryGO:0073689.6SMO, MKKS, ZIC3
38regulation of smoothened signaling pathwayGO:0085899.6RAB23, GLI1, GLI2, GAS1, PTCH1
39smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:0219389.5SHH, GLI1, SMO, GLI2
40odontogenesis of dentin-containing toothGO:0424759.5SMO, SHH, GLI2, GLI3
41positive regulation of epithelial cell proliferationGO:0506799.5GAS1, SMO, IGF1
42heart loopingGO:0019479.4SMO, MKKS, SHH, ZIC3
43exocrine pancreas developmentGO:0310179.4IGF1, SMO
44positive regulation of smoothened signaling pathwayGO:0458809.3SMO, SHH, GAS1, GLI1, KIF7
45renal system developmentGO:0720019.2PTCH1, SHH, MECOM, SMO
46in utero embryonic developmentGO:0017019.2GLI2, MECOM, GLI3, SMO
47smoothened signaling pathwayGO:0072249.0GLI2, SHH, SMO, PTCH1, GLI1, GLI3
48negative regulation of transcription from RNA polymerase II promoterGO:0001228.9SHH, GLI3, GLI2, PTCH1, SMO, KLF10
49positive regulation of transcription, DNA-dependentGO:0458938.7SHH, ZIC3, TCF4, MECOM, IGF1, GLI2
50positive regulation of transcription from RNA polymerase II promoterGO:0459448.1TCF4, SMO, IGF1, ZIC3, MECOM, SHH

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

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3CDC
13ExPASy
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
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40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
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57SNOMED-CT via Orphanet
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