PHS
MCID: PLL001
MIFTS: 70

Pallister-Hall Syndrome (PHS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Pallister-Hall Syndrome

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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 polydactyly and mckusick-kaufman syndrome, and has symptoms including thyroid anomalies, hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies and ventricular septal defect/interventricular communication. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI family zinc finger 3), and among its related pathways are Endochondral Ossification and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds sant-1 and ciliobrevin a have been mentioned in the context of this disorder. Affiliated tissues include kidney, pituitary and brain, and related mouse phenotypes are taste/olfaction and digestive/alimentary.

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

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 20GeneTests, 22GTR, 35MeSH, 40NCIt, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
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
OMIM47 146510
NCIt40 C84987
SNOMED-CT58 56677004
MESH via Orphanet36 D054975
ICD10 via Orphanet26 D33.0
SNOMED-CT via Orphanet59 56677004
UMLS via Orphanet63 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

Symptoms for Pallister-Hall Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

146510

Clinical features from OMIM:

146510

Symptoms:

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

Drugs & Therapeutics for Pallister-Hall Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Pallister-Hall Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Pallister-Hall Syndrome:

33
Kidney, Pituitary, Brain, Skin, Testes, Tongue, Bone, Lung, Thyroid, Hypothalamus

Animal Models for Pallister-Hall Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

37 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.5MKKS, SHH, GLI3
2MP:00053819.0GLI1, GLI2, GLI3, KIF7, SHH
3MP:00053678.9GLI1, GLI3, SHH, IGF1
4MP:00053918.6MKKS, SHH, KIF7, GLI3, GLI2, GAS1
5MP:00053798.5IGF1, SHH, GLI3, GLI2, GLI1
6MP:00030128.5SHH, MECOM, KIF7, GLI3, GLI2, GLI1
7MP:00020068.4GLI1, KLF10, MECOM, SHH, IGF1
8MP:00053698.4IGF1, SHH, MECOM, KIF7, GLI2
9MP:00053808.2SHH, MECOM, KIF7, GLI3, GLI2, GLI1
10MP:00107718.1IGF1, SHH, MECOM, KLF10, GLI3, GLI2
11MP:00053828.1MKKS, SHH, MECOM, KIF7, GLI3, GLI2
12MP:00053868.0MKKS, SHH, MECOM, GLI2, GLI1, GAS1
13MP:00028738.0IGF1, SHH, MECOM, GLI2, GLI1
14MP:00053777.9IGF1, MKKS, SHH, MECOM, GLI3, GLI2
15MP:00053907.6IGF1, SHH, MECOM, KIF7, KLF10, GLI3
16MP:00053897.6IGF1, MKKS, SHH, MECOM, KIF7, GLI3
17MP:00053787.5IGF1, MKKS, SHH, MECOM, GLI3, GLI2
18MP:00053887.3IGF1, MKKS, SHH, MECOM, KIF7, GLI3
19MP:00053847.3IGF1, SHH, MECOM, KIF7, KLF10, GLI3
20MP:00107687.2IGF1, MKKS, SHH, MECOM, KIF7, GLI3
21MP:00053767.2IGF1, MKKS, SHH, MECOM, KIF7, KLF10
22MP:00053857.1IGF1, MKKS, HCN3, SHH, MECOM, KIF7
23MP:00053716.9GAS1, IGF1, MKKS, SHH, MECOM, KIF7
24MP:00036316.5IGF1, MKKS, HCN3, SHH, MECOM, KIF7

Publications for Pallister-Hall Syndrome

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52PubMed
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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
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. (21108399)
2010
6
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome. (19793630)
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
Genitourinary malformations as a feature of the Pallister-Hall syndrome. (16531732)
2006
10
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. (15660767)
2005
11
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. (16007608)
2005
12
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. (15617553)
2005
13
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (15046066)
2004
14
Gonadal mosaicism in severe Pallister-Hall syndrome. (14708104)
2004
15
Pallister-Hall syndrome with hypoparathyroidism. (15237717)
2004
16
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. (12773293)
2003
17
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. (14523835)
2003
18
Gli 3 mutation in Pallister-Hall syndrome. (12017244)
2002
19
Pallister-Hall syndrome phenotype in mice mutant for Gli3. (11978771)
2002
20
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. (11305791)
2001
21
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. (11693785)
2001
22
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. (11241471)
2001
23
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. (10982485)
2000
24
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. (10945658)
2000
25
Pallister-Hall syndrome: clinical and MR features. (10588106)
1999
26
Pallister-Hall syndrome. (9615516)
1998
27
Pallister-Hall syndrome. (9807095)
1998
28
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (9192261)
1997
29
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. (9054938)
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
The Pallister-Hall syndrome. (7815447)
1994
37
Familial Pallister-Hall syndrome. (8021773)
1994
38
Familial Pallister-Hall syndrome: three affected offspring. (7802025)
1994
39
Familial Pallister-Hall syndrome. (7880273)
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
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
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? (3425639)
1987
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

Variations for Pallister-Hall Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pallister-Hall Syndrome:

64
id Symbol AA change Variation ID SNP ID
1KIF7p.Pro632LeuVAR_066450rs115857753

Clinvar genetic disease variations for Pallister-Hall Syndrome:

1 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1GLI3NM_000168.5(GLI3): c.2023delG (p.Glu675Serfs)deletionPathogenicrs116840744GRCh37Chr 7, 42012016: 42012016
2GLI3NM_000168.5(GLI3): c.2012delG (p.Gly671Glufs)deletionPathogenicrs116840743GRCh37Chr 7, 42012027: 42012027
3GLI3NM_000168.5(GLI3): c.3439G> T (p.Glu1147Ter)single nucleotide variantPathogenicrs116840768GRCh37Chr 7, 42005232: 42005232
4GLI3NM_000168.5: c.2770_2771insNC_012920.1: g.12243..12314insertionPathogenicGRCh37Chr 7, 42005900: 42005901
5GLI3NM_000168.5(GLI3): c.2188_2206del19 (p.Leu730Valfs)deletionPathogenicrs116840754GRCh37Chr 7, 42007419: 42007437
6GLI3NM_000168.5(GLI3): c.1998_2001delCCGA (p.Pro668Leufs)deletionPathogenicrs116840742GRCh37Chr 7, 42012038: 42012041
7GLI3NM_000168.5(GLI3): c.2032delG (p.Asp678Thrfs)deletionPathogenicrs116840745GRCh37Chr 7, 42012007: 42012007
8GLI3NM_000168.5(GLI3): c.2058_2059delGGinsAT (p.Glu687Ter)indelPathogenicrs116840746GRCh37Chr 7, 42011980: 42011981
9GLI3NM_000168.5(GLI3): c.2062G> T (p.Glu688Ter)single nucleotide variantPathogenicrs116840747GRCh37Chr 7, 42011977: 42011977
10GLI3NM_000168.5(GLI3): c.2110C> T (p.Gln704Ter)single nucleotide variantPathogenicrs116840748GRCh37Chr 7, 42007515: 42007515
11GLI3NM_000168.5(GLI3): c.2139delC (p.Cys713Terfs)deletionPathogenicrs116840749GRCh37Chr 7, 42007486: 42007486
12GLI3NM_000168.5(GLI3): c.2146C> T (p.Gln716Ter)single nucleotide variantPathogenicrs116840750GRCh37Chr 7, 42007479: 42007479
13GLI3NM_000168.5(GLI3): c.2149C> T (p.Gln717Ter)single nucleotide variantPathogenicrs116840751GRCh37Chr 7, 42007476: 42007476
14GLI3NM_000168.5(GLI3): c.2157delC (p.Ile720Serfs)deletionPathogenicrs116840752GRCh37Chr 7, 42007468: 42007468
15GLI3NM_000168.5(GLI3): c.2172dupC (p.Asn725Glnfs)duplicationPathogenicrs116840753GRCh37Chr 7, 42007452: 42007453
16GLI3NM_000168.5(GLI3): c.2197_2198delAC (p.Thr733Argfs)deletionPathogenicrs116840755GRCh37Chr 7, 42007427: 42007428
17GLI3NM_000168.5(GLI3): c.2346_2356delGCTAAAACAAG (p.Arg782Serfs)deletionPathogenicrs116840756GRCh37Chr 7, 42007269: 42007279
18GLI3NM_000168.5(GLI3): c.2351_2355delAACAA (p.Lys784Serfs)deletionPathogenicrs116840757GRCh37Chr 7, 42007270: 42007274
19GLI3NM_000168.5(GLI3): c.2431+1G> Asingle nucleotide variantPathogenicrs116840758GRCh37Chr 7, 42007193: 42007193
20GLI3NM_000168.5(GLI3): c.2483delC (p.Pro828Argfs)deletionPathogenicrs116840759GRCh37Chr 7, 42006188: 42006188
21GLI3NM_000168.5(GLI3): c.2567C> A (p.Ser856Ter)single nucleotide variantPathogenicrs116840760GRCh37Chr 7, 42006104: 42006104
22GLI3NM_000168.5(GLI3): c.2620delC (p.Arg874Alafs)deletionPathogenicrs116840761GRCh37Chr 7, 42006051: 42006051
23GLI3NM_000168.5(GLI3): c.2628delC (p.Ser877Alafs)deletionPathogenicrs116840762GRCh37Chr 7, 42006043: 42006043
24GLI3NM_000168.5(GLI3): c.2799C> G (p.Tyr933Ter)single nucleotide variantPathogenicrs116840763GRCh37Chr 7, 42005872: 42005872
25GLI3NM_000168.5(GLI3): c.2935delT (p.Cys979Alafs)deletionPathogenicrs116840764GRCh37Chr 7, 42005736: 42005736
26GLI3NM_000168.5(GLI3): c.3004delG (p.Val1002Terfs)deletionPathogenicrs116840765GRCh37Chr 7, 42005667: 42005667
27GLI3NM_000168.5(GLI3): c.3324C> G (p.Tyr1108Ter)single nucleotide variantPathogenicrs116840766GRCh37Chr 7, 42005347: 42005347
28GLI3NM_000168.5(GLI3): c.3386_3387delTT (p.Phe1129Terfs)deletionPathogenicrs281864935GRCh37Chr 7, 42005284: 42005285
29GLI3NM_000168.5(GLI3): c.3456G> T (p.Glu1152Asp)single nucleotide variantPathogenicrs116840769GRCh37Chr 7, 42005215: 42005215
30GLI3NM_000168.5(GLI3): c.3481C> T (p.Gln1161Ter)single nucleotide variantPathogenicrs116840770GRCh37Chr 7, 42005190: 42005190

Expression for genes affiliated with Pallister-Hall Syndrome

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 5Cell Signaling Technology, 30KEGG, 61Tocris Bioscience
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Compounds for genes affiliated with Pallister-Hall Syndrome

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61Tocris Bioscience, 45Novoseek, 24HMDB
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Compounds related to Pallister-Hall Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sant-1619.8GLI1, SHH
2ciliobrevin a619.8GLI1, SHH
320(s)-hydroxycholesterol619.7GLI1, SHH
4cyclopamine45 6110.7GLI1, SHH
5ay 9944 dihydrochloride619.6SHH, GLI1
6zinc45 249.3GLI1, GLI2, GLI3, KLF10, MECOM

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
1primary ciliumGO:0723729.8GLI1, GLI3
2histone deacetylase complexGO:0001189.0SAP18, MECOM
3nuclear speckGO:0166078.8GLI2, GLI3, MECOM, SAP18
4nucleusGO:0056347.6GLI1, GLI2, GLI3, KLF10, MECOM, SAP18

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

(show top 50)    (show all 63)
idNameGO IDScoreTop Affiliating Genes
1smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:02177610.3GLI3, GLI2
2smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:02177510.3GLI3, GLI2
3smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:06083110.3GLI3, GLI2
4notochord regressionGO:06003210.3GLI1, GLI2
5cerebellar cortex morphogenesisGO:02169610.2GLI2, GLI1
6epidermal cell differentiationGO:00991310.2GLI2, GLI1
7embryonic digestive tract developmentGO:04856610.2GLI2, GLI3
8negative regulation of alpha-beta T cell differentiationGO:04663910.2SHH, GLI3
9artery developmentGO:06084010.1GLI3, SHH
10spinal cord dorsal/ventral patterningGO:02151310.1SHH, GLI2
11positive regulation of alpha-beta T cell differentiationGO:04663810.1GLI3, SHH
12negative thymic T cell selectionGO:04506010.1GLI3, SHH
13positive regulation of T cell differentiation in thymusGO:03308910.1SHH, GLI2
14positive regulation of protein import into nucleusGO:04230710.0GLI3, SHH
15proximal/distal pattern formationGO:00995410.0GLI3, GLI2, GLI1
16negative regulation of smoothened signaling pathwayGO:04587910.0GAS1, GLI3, KIF7
17developmental growthGO:04858910.0GAS1, GLI2, GLI3
18positive regulation of neuroblast proliferationGO:00205210.0GLI3, SHH
19dorsal/ventral neural tube patterningGO:02190410.0GAS1, SHH
20hindbrain developmentGO:03090210.0SHH, GLI2
21regulation of smoothened signaling pathwayGO:0085899.9GAS1, GLI1, GLI2
22pituitary gland developmentGO:0219839.9GLI1, GLI2
23embryonic digestive tract morphogenesisGO:0485579.9GLI3, SHH
24osteoblast developmentGO:0020769.9SHH, GLI2
25hindgut morphogenesisGO:0074429.9SHH, GLI3, GLI2
26lung lobe morphogenesisGO:0604639.9IGF1, SHH
27ventral midline developmentGO:0074189.8SHH, GLI2, GLI1
28smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:0219389.8SHH, GLI2, GLI1
29odontogenesis of dentin-containing toothGO:0424759.8SHH, GLI3, GLI2
30palate developmentGO:0600219.8GAS1, GLI3, SHH
31negative regulation of canonical Wnt signaling pathwayGO:0900909.8SHH, GLI3, GLI1
32myoblast differentiationGO:0454459.8IGF1, SHH
33mammary gland developmentGO:0308799.8GLI2, IGF1
34T cell differentiation in thymusGO:0330779.8GLI3, SHH
35positive regulation of DNA replicationGO:0457409.7IGF1, GLI2, GLI1
36renal system developmentGO:0720019.7MECOM, SHH
37metanephros developmentGO:0016569.7GLI3, SHH
38branching morphogenesis of an epithelial tubeGO:0487549.6GLI2, SHH, IGF1
39skeletal system developmentGO:0015019.6IGF1, KLF10, GLI2
40smoothened signaling pathwayGO:0072249.6SHH, GLI3, GLI2, GLI1
41lung developmentGO:0303249.6SHH, GLI3, GLI2, GLI1
42embryonic digit morphogenesisGO:0427339.5GAS1, GLI2, GLI3, SHH
43positive regulation of smoothened signaling pathwayGO:0458809.5GAS1, GLI1, KIF7, SHH
44axon guidanceGO:0074119.5GAS1, GLI2, GLI3, SHH
45heart developmentGO:0075079.5MKKS, SHH, GLI3, GLI2
46in utero embryonic developmentGO:0017019.3MECOM, GLI3, GLI2
47negative regulation of transcription from RNA polymerase II promoterGO:0001229.3GLI2, GLI3, KLF10, SHH
48embryonic hindlimb morphogenesisGO:0351169.1MECOM, SHH
49positive regulation of transcription, DNA-templatedGO:0458938.4IGF1, SHH, MECOM, GLI3, GLI2, GLI1
50positive regulation of transcription from RNA polymerase II promoterGO:0459448.4IGF1, SHH, MECOM, GLI3, GLI2, GLI1

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.3GLI3, GLI2, GLI1
2sequence-specific DNA binding transcription factor activityGO:0037008.9MECOM, KLF10, GLI3, GLI2
3protein bindingGO:0055156.0IGF1, MKKS, SHH, SAP18, MECOM, KIF7

Products for genes affiliated with Pallister-Hall Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pallister-Hall Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet