PHS
MCID: PLL001
MIFTS: 72

Pallister-Hall Syndrome (PHS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Pallister-Hall Syndrome

About this section


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 based summary: Pallister-Hall Syndrome, also known as hypothalamic hamartoblastoma syndrome, is related to mckusick-kaufman syndrome and polydactyly, and has symptoms including postaxial hand polydactyly, abnormality of the fingernails and intrauterine growth retardation. 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, brain and skin, and related mouse phenotypes are taste/olfaction and digestive/alimentary.

Genetics Home Reference:22 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.

OMIM:46 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary... (146510) more...

GeneReviews summary for phs

Aliases & Classifications for Pallister-Hall Syndrome

About this section
Sources:
9Disease Ontology, 10diseasecard, 20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Pallister-Hall Syndrome, Aliases & Descriptions:

Name: Pallister-Hall Syndrome 9 10 20 42 22 46 11 44 48 61
Hypothalamic Hamartoblastoma Syndrome 22 48 61
Pallister Hall Syndrome 42 21 23
Hall-Pallister Syndrome 22 61
 
Phs 42 22
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly 42
Cerebroacrovisceral Early Lethality Complex 22
Cave Complex 22


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology9 DOID:9248
OMIM46 146510
NCIt39 C84987
SNOMED-CT56 56677004
MESH via Orphanet35 D054975
ICD10 via Orphanet27 D33.0
UMLS via Orphanet62 C0265220

Related Diseases for Pallister-Hall Syndrome

About this section

Diseases in the Pallister-Hall Syndrome family:

Pallister-Hall Syndrome 2

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

(show top 50)    (show all 310)
idRelated DiseaseScoreTop Affiliating Genes
1mckusick-kaufman syndrome31.0MKKS
2polydactyly30.3MKKS, GLI2, GLI3, SHH, GLI1
3osteosarcoma29.6IGF1, GLI1, KLF10
4hypothalamic hamartomas10.8
5leukemia10.8
6esophagitis10.5
7gastroesophageal reflux disease10.5
8lymphoblastic leukemia10.5
9chronic myeloid leukemia10.5
10myeloid leukemia10.5
11acute lymphoblastic leukemia10.5
12greig cephalopolysyndactyly syndrome10.5GLI3
13imperforate anus10.5
14pallister-hall syndrome 210.5
15vaginitis10.5
16hypoxia10.4
17endotheliitis10.4
18duodenogastric reflux10.4
19cystic fibrosis10.4
20melanoma10.4
21pancreatitis10.3
22single median maxillary central incisor10.3SHH
23acrocallosal syndrome10.3GLI3, KIF7
24semilobar holoprosencephaly10.3SHH
25hepatitis10.3
26pituitary hypoplasia10.3
27renal agenesis10.3
28smith-lemli-opitz syndrome10.3
29hydrolethalus syndrome10.3
30hydronephrosis10.3
31hypoparathyroidism10.3
32hypopituitarism10.3
33laryngitis10.3
34neuronitis10.3
35bacterial vaginosis10.3
36bardet-biedl syndrome 610.3MKKS
37acute lymphocytic leukemia10.2
38pulmonary hypertension10.2
39duodenitis10.2
40breast cancer10.2
41developmental disabilities10.2GLI3, GLI1
42nephrolithiasis10.2
43diphtheria10.2
44peritonitis10.2
45anoxia10.2
46skin benign neoplasm10.2GLI1, GLI2
47hypertension10.2
48duodenal ulcer10.2
49metabolic acidosis10.2
50cerebritis10.2

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



Diseases related to pallister-hall syndrome

Symptoms for Pallister-Hall Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

146510

Clinical features from OMIM:

146510

Symptoms:

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

HPO human phenotypes related to Pallister-Hall Syndrome:

(show all 88)
id Description Frequency HPO Source Accession
1 postaxial hand polydactyly hallmark (90%) HP:0001162
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 abnormality of the toenail hallmark (90%) HP:0008388
5 multicystic kidney dysplasia typical (50%) HP:0000003
6 cryptorchidism typical (50%) HP:0000028
7 cleft palate typical (50%) HP:0000175
8 micrognathia typical (50%) HP:0000347
9 low-set, posteriorly rotated ears typical (50%) HP:0000368
10 anterior hypopituitarism typical (50%) HP:0000830
11 abnormal lung lobation typical (50%) HP:0002101
12 tracheoesophageal fistula typical (50%) HP:0002575
13 micromelia typical (50%) HP:0002983
14 short nose typical (50%) HP:0003196
15 depressed nasal bridge typical (50%) HP:0005280
16 finger syndactyly typical (50%) HP:0006101
17 primary adrenal insufficiency typical (50%) HP:0008207
18 hypoplasia of penis typical (50%) HP:0008736
19 aplasia/hypoplasia of the tongue typical (50%) HP:0010295
20 urogenital fistula typical (50%) HP:0100589
21 behavioral abnormality occasional (7.5%) HP:0000708
22 abnormality of the thyroid gland occasional (7.5%) HP:0000820
23 precocious puberty occasional (7.5%) HP:0000826
24 brachydactyly syndrome occasional (7.5%) HP:0001156
25 seizures occasional (7.5%) HP:0001250
26 ventricular septal defect occasional (7.5%) HP:0001629
27 patent ductus arteriosus occasional (7.5%) HP:0001643
28 abnormality of the heart valves occasional (7.5%) HP:0001654
29 toe syndactyly occasional (7.5%) HP:0001770
30 postaxial foot polydactyly occasional (7.5%) HP:0001830
31 aganglionic megacolon occasional (7.5%) HP:0002251
32 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
33 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
34 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
35 cognitive impairment occasional (7.5%) HP:0100543
36 autosomal dominant inheritance HP:0000006
37 cryptorchidism HP:0000028
38 micropenis HP:0000054
39 ectopic kidney HP:0000086
40 renal hypoplasia HP:0000089
41 renal cyst HP:0000107
42 renal dysplasia HP:0000110
43 microglossia HP:0000171
44 cleft upper lip HP:0000204
45 posteriorly rotated ears HP:0000358
46 atresia of the external auditory canal HP:0000413
47 anteverted nares HP:0000463
48 microphthalmos HP:0000568
49 natal tooth HP:0000695
50 growth hormone deficiency HP:0000824
51 precocious puberty HP:0000826
52 adrenal hypoplasia HP:0000835
53 panhypopituitarism HP:0000871
54 rib fusion HP:0000902
55 postaxial hand polydactyly HP:0001162
56 seizures HP:0001250
57 holoprosencephaly HP:0001360
58 intrauterine growth retardation HP:0001511
59 ventricular septal defect HP:0001629
60 patent ductus arteriosus HP:0001643
61 toe syndactyly HP:0001770
62 postaxial foot polydactyly HP:0001830
63 anal atresia HP:0002023
64 abnormal lung lobation HP:0002101
65 nail dysplasia HP:0002164
66 hypothalamic hamartoma HP:0002444
67 hip dislocation HP:0002827
68 hemivertebrae HP:0002937
69 radial head subluxation HP:0003048
70 short nose HP:0003196
71 short stature HP:0004322
72 preductal coarctation of the aorta HP:0005151
73 depressed nasal bridge HP:0005280
74 hypoplasia of the epiglottis HP:0005349
75 y-shaped metacarpals HP:0006042
76 mesoaxial hand polydactyly HP:0006159
77 distal shortening of limbs HP:0006402
78 midline facial capillary hemangioma HP:0007601
79 thyroid dysgenesis HP:0008188
80 hypocortisolemia HP:0008220
81 microtia HP:0008551
82 distal urethral duplication HP:0008706
83 decreased testicular size HP:0008734
84 laryngeal cleft HP:0008751
85 short 4th metacarpal HP:0010044
86 mesoaxial foot polydactyly HP:0010112
87 bifid epiglottis HP:0010564
88 oligodactyly HP:0012165

Drugs & Therapeutics for Pallister-Hall Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Pallister-Hall Syndrome

Search NIH Clinical Center for Pallister-Hall Syndrome

Genetic Tests for Pallister-Hall Syndrome

About this section

Genetic tests related to Pallister-Hall Syndrome:

id Genetic test Affiliating Genes
1 Pallister-Hall Syndrome21 23 GLI3

Anatomical Context for Pallister-Hall Syndrome

About this section

MalaCards organs/tissues related to Pallister-Hall Syndrome:

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

Animal Models for Pallister-Hall Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Pallister-Hall Syndrome:

36 (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

About this section

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

About this section

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

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

Clinvar genetic disease variations for Pallister-Hall Syndrome:

7 (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

About this section
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

About this section

Compounds for genes affiliated with Pallister-Hall Syndrome

About this section
Sources:
60Tocris Bioscience, 44Novoseek, 25HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1sant-1609.8GLI1, SHH
2ciliobrevin a609.8GLI1, SHH
320(s)-hydroxycholesterol609.7GLI1, SHH
4cyclopamine44 6010.7GLI1, SHH
5ay 9944 dihydrochloride609.6SHH, GLI1
6zinc44 259.3GLI1, GLI2, GLI3, KLF10, MECOM

GO Terms for genes affiliated with Pallister-Hall Syndrome

About this section

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

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

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

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:0037008.9GLI2, GLI3, KLF10, MECOM
3protein bindingGO:0055156.0GAS1, IGF1, MKKS, SHH, SAP18, MECOM

Products for genes affiliated with Pallister-Hall Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pallister-Hall Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet