PHLS
MCID: PLL017
MIFTS: 37

Pallister-Hall-Like Syndrome (PHLS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pallister-Hall-Like Syndrome

MalaCards integrated aliases for Pallister-Hall-Like Syndrome:

Name: Pallister-Hall-Like Syndrome 57 72
Hamartoma of Hypothalamus 72 29 6 39
Phls 57 72
Hypothalamic Hamartomas 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity

Inheritance:
autosomal recessive


HPO:

31
pallister-hall-like syndrome:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pallister-Hall-Like Syndrome

OMIM® : 57 Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020). Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240). (241800) (Updated 05-Apr-2021)

MalaCards based summary : Pallister-Hall-Like Syndrome, also known as hamartoma of hypothalamus, is related to hypothalamic hamartomas with gelastic seizures and congenital heart defects, hamartomas of tongue, and polysyndactyly. An important gene associated with Pallister-Hall-Like Syndrome is SMO (Smoothened, Frizzled Class Receptor). The drugs mometasone furoate and Histamine have been mentioned in the context of this disorder. Affiliated tissues include hypothalamus, heart and pituitary, and related phenotypes are macrocephaly and hydrocephalus

UniProtKB/Swiss-Prot : 72 Pallister-Hall-like syndrome: An autosomal recessive disorder characterized by a wide phenotypic spectrum of developmental anomalies affecting the brain, heart, skeleton and enteric nervous system. Clinical features include hypothalamic hamartoma, microcephaly, atrioventricular septal defect, postaxial polydactyly, narrow chest, shortening of long bones, and aganglionosis.

Related Diseases for Pallister-Hall-Like Syndrome

Diseases in the Pallister-Hall Syndrome family:

Pallister-Hall-Like Syndrome

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 hypothalamic hamartomas with gelastic seizures 11.2
2 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.8
3 precocious puberty 10.7
4 seizure disorder 10.7
5 epilepsy 10.6
6 central precocious puberty 10.4
7 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
8 diabetes insipidus 10.3
9 rubella 10.2
10 temporal lobe epilepsy 10.2
11 measles 10.2
12 mumps 10.2
13 pallister-hall syndrome 10.2
14 greig cephalopolysyndactyly syndrome 10.2
15 polydactyly 10.2
16 hypothalamic hamartomas 10.2
17 hypothyroidism 10.2
18 congenital rubella 10.1
19 arachnoid cysts, intracranial 10.1
20 salmonellosis 10.1
21 influenza 10.1
22 neisseria meningitidis infection 10.1
23 human immunodeficiency virus type 1 10.0
24 pertussis 10.0
25 chlamydia 10.0
26 listeriosis 10.0
27 hepatitis 10.0
28 leptospirosis 10.0
29 prion disease 10.0
30 gastrointestinal system disease 10.0
31 chickenpox 10.0
32 meningococcal infection 10.0
33 papilledema 10.0
34 glioma susceptibility 1 9.9
35 attention deficit-hyperactivity disorder 9.9
36 renal hypodysplasia/aplasia 1 9.9
37 anus, imperforate 9.9
38 pituitary hormone deficiency, combined, 2 9.9
39 branchiootic syndrome 1 9.9
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
41 cortical dysplasia, complex, with other brain malformations 10 9.9
42 periventricular nodular heterotopia 9.9
43 oppositional defiant disorder 9.9
44 sensorineural hearing loss 9.9
45 cysticercosis 9.9
46 hydrocephalus 9.9
47 conduct disorder 9.9
48 status epilepticus 9.9
49 hypogonadism 9.9
50 focal epilepsy 9.9

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



Diseases related to Pallister-Hall-Like Syndrome

Symptoms & Phenotypes for Pallister-Hall-Like Syndrome

Human phenotypes related to Pallister-Hall-Like Syndrome:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 hydrocephalus 31 HP:0000238
3 skeletal dysplasia 31 HP:0002652
4 depressed nasal bridge 31 HP:0005280
5 short nose 31 HP:0003196
6 cleft palate 31 HP:0000175
7 micrognathia 31 HP:0000347
8 anterior hypopituitarism 31 HP:0000830
9 micropenis 31 HP:0000054
10 hip dislocation 31 HP:0002827
11 glioma 31 HP:0009733
12 micromelia 31 HP:0002983
13 postaxial hand polydactyly 31 HP:0001162
14 median cleft lip 31 HP:0000161
15 pulmonary hypoplasia 31 HP:0002089
16 abnormality of cardiovascular system morphology 31 HP:0030680
17 abnormal heart morphology 31 HP:0001627
18 occipital encephalocele 31 HP:0002085
19 microglossia 31 HP:0000171
20 renal dysplasia 31 HP:0000110
21 short ribs 31 HP:0000773
22 hypothalamic hamartoma 31 HP:0002444

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
short nose

Skeletal Skull:
microcephaly
large fontanel

Head And Neck Mouth:
cleft palate
microglossia
ankyloglossia
microstomia
paired sublingual appendages
more
Genitourinary External Genitalia Male:
micropenis
hypospadias

Chest External Features:
long thorax
narrow thorax

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

Skeletal Feet:
syndactyly
postaxial polydactyly
fusion of 5th and 6th metatarsals

Skeletal Hands:
postaxial polydactyly
short metacarpals
short phalanges (middle and distal)
cone-shaped epiphyses of middle phalanges

Skeletal Limbs:
short long bones

Head And Neck Face:
spatulate mandible
mandibular epulis

Cardiovascular Heart:
atrioventricular septal defect (complete or partial)
monoatrium
atrioventricular valvular defects
atrioventricular valvular insufficiency

Skeletal Spine:
ovoid lumbar vertebrae

Head And Neck Head:
microcephaly
large fontanel

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
sparse hair

Head And Neck Teeth:
oligodontia
conical teeth

Respiratory Nasopharynx:
choanal stenosis

Neurologic Central Nervous System:
hypothalamic hamartoma
gelastic seizures
speech delay
type i chiari malformation
dacrystic seizures
more
Cardiovascular Vascular:
coarctation of the aorta

Skin Nails Hair Nails:
nail hypoplasia

Head And Neck Ears:
overfolded helices

Abdomen Gastrointestinal:
aganglionosis, short-segment rectosigmoid

Skeletal Pelvis:
trident acetabulum

Clinical features from OMIM®:

241800 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pallister-Hall-Like Syndrome

Drugs for Pallister-Hall-Like Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
2
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
3
Fluticasone Approved, Experimental Phase 3 90566-53-3 62924
4
Loratadine Approved, Investigational Phase 3 79794-75-5 3957
5
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166 2942
6
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
7
Etoposide Approved Phase 3 33419-42-0 36462
8
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
9
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
10
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
11 Omega 3 Fatty Acid Phase 3
12 Guarana Phase 3
13 Neurotransmitter Agents Phase 3
14 Adrenergic Agonists Phase 3
15 Adrenergic beta-Agonists Phase 3
16 Olopatadine Hydrochloride Phase 3
17 Respiratory System Agents Phase 3
18 Analgesics, Non-Narcotic Phase 3
19 Albuterol Phase 3
20 Ophthalmic Solutions Phase 3
21 Analgesics Phase 3
22 Histamine H1 Antagonists, Non-Sedating Phase 3
23
Histamine Phosphate Phase 3 51-74-1 65513
24 Tocolytic Agents Phase 3
25 Anti-Asthmatic Agents Phase 3
26 Adrenergic Agents Phase 3
27 Histamine H1 Antagonists Phase 3
28 Dermatologic Agents Phase 3
29 Pharmaceutical Solutions Phase 3
30 Bronchodilator Agents Phase 3
31 Histamine Antagonists Phase 3
32 Anti-Inflammatory Agents, Non-Steroidal Phase 3
33 Anti-Allergic Agents Phase 3
34 Tubulin Modulators Phase 3
35 Antimitotic Agents Phase 3
36 Immunologic Factors Phase 3
37 Hormone Antagonists Phase 3
38 Immunosuppressive Agents Phase 3
39 glucocorticoids Phase 3
40 Antirheumatic Agents Phase 3
41 Hormones Phase 3
42
Liposomal doxorubicin Phase 3 31703
43 Alkylating Agents Phase 3
44 Etoposide phosphate Phase 3
45 Antineoplastic Agents, Hormonal Phase 3
46 Anti-Inflammatory Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A 30 Day, Randomised, Double-blind, Double-dummy, Placebo-controlled, Multicentre Safety Trial to Evaluate the Tolerability Profile of Pharmaton PHL 00747 Soft Gelatine Capsules (Multivitamin, Multimineral + Omega-3 Fatty Acids) 1/Day p.o. and Pharmaton PHL 00747 Film-coated Tablets (Multivitamin, Multimineral Without Omega-3 Fatty Acids) 1/Day p.o. in Healthy, Young Female Subjects of Child-bearing Potential Completed NCT02183285 Phase 3
2 A 28 Day, Randomised, Double-blind, Placebo-controlled, Single-centre Trial to Evaluate the Efficacy and Safety of Pharmaton® PHL 00749 Film Coated Tablets (G115 40 mg, Multivitamin, Multimineral + Guarana 75 mg) 1/Day p.o. in Improving Mental Performance and to Decrease Fatigue in Healthy Male and Female Subjects in Regular Employment. Completed NCT00144235 Phase 3 Pharmaton PHL 00749;Placebo
3 A Multicentre, Multinational, Placebo-controlled, Double-blind, Randomized Study to Evaluate Efficacy and Safety of a Perennial, Sublingual, Specific Immunotherapy in Patients With Rhinoconjunctivitis With/Without Controlled Asthma Caused by Grass Pollen Completed NCT00623701 Phase 3
4 A Multicenter, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group Study Evaluating the Efficacy and Safety of Grass (Phleum Pratense) Sublingual Tablet (SCH 697243) in Adult Subjects With a History of Grass Pollen Induced Rhinoconjunctivitis With or Without Asthma Completed NCT00562159 Phase 3 Placebo;Loratadine 10 mg Rescue Treatment;Olopatadine 0.1% Rescue Treatment;Mometasone 50 mcg Rescue Treatment;Prednisone 5 mg Rescue Treatment;Albuterol sulfate 108 mcg;Fluticasone propionate 44 mcg;Prednisone 5 mg
5 European Network-Paediatric Hodgkin Lymphoma Study Group (EuroNet-PHL) Second International Inter-Group Study for Classical Hodgkin Lymphoma in Children and Adolescents Recruiting NCT02684708 Phase 3 cyclophosphamide, vincristine, prednisone, dacarbazine;cyclo, vcr, pred, dacarb,etop and doxo
6 Improving Patient and Caregiver Engagement Through the Application of Data Science Methods to Audio Recorded Clinic Visits Stored in Personal Health Libraries Not yet recruiting NCT04827381

Search NIH Clinical Center for Pallister-Hall-Like Syndrome

Genetic Tests for Pallister-Hall-Like Syndrome

Genetic tests related to Pallister-Hall-Like Syndrome:

# Genetic test Affiliating Genes
1 Hamartoma of Hypothalamus 29 SMO

Anatomical Context for Pallister-Hall-Like Syndrome

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

40
Hypothalamus, Heart, Pituitary

Publications for Pallister-Hall-Like Syndrome

Articles related to Pallister-Hall-Like Syndrome:

# Title Authors PMID Year
1
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. 6 57
32413283 2020
2
A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases. 57 6
30497210 2018
3
Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. 57
18252217 2008
4
Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form. 57
1308364 1992
5
Hamartoma of the hypothalamus; report of two cases with associated developmental defects. 57
13085273 1953
6
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote. 61
32112393 2020
7
Hamartoma of hypothalamus presented as precocious puberty and epilepsy in a 10-year-old girl. 61
33166813 2020
8
Symmetric ganglionic hamartoma of hypothalamus appearing as four "mamillary" bodies. 61
6803513 1982
9
Papilledema with hamartoma of hypothalamus. 61
13719253 1961
10
[Unusual case of precocious puberty caused by hypothalamic abnormality, so-called hamartoma of hypothalamus]. 61
13436206 1957

Variations for Pallister-Hall-Like Syndrome

ClinVar genetic disease variations for Pallister-Hall-Like Syndrome:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMO NM_005631.5(SMO):c.2291_2292del (p.Gln764fs) Deletion Pathogenic 975032 GRCh37: 7:128852219-128852220
GRCh38: 7:129212378-129212379
2 SMO NM_005631.5(SMO):c.781C>T (p.Arg261Cys) SNV Pathogenic 975033 GRCh37: 7:128845484-128845484
GRCh38: 7:129205643-129205643
3 SMO NM_005631.5(SMO):c.1339G>T (p.Glu447Ter) SNV Pathogenic 975034 GRCh37: 7:128848674-128848674
GRCh38: 7:129208833-129208833
4 SMO NM_005631.5(SMO):c.1727G>A (p.Arg576Gln) SNV Pathogenic 975035 GRCh37: 7:128850880-128850880
GRCh38: 7:129211039-129211039
5 SMO NM_005631.5(SMO):c.1726C>T (p.Arg576Trp) SNV Pathogenic 975036 GRCh37: 7:128850879-128850879
GRCh38: 7:129211038-129211038
6 SMO NM_005631.5(SMO):c.1285A>T (p.Ile429Phe) SNV Pathogenic 975037 GRCh37: 7:128848620-128848620
GRCh38: 7:129208779-129208779
7 SMO NM_005631.5(SMO):c.754T>C (p.Phe252Leu) SNV Likely pathogenic 982409 GRCh37: 7:128845457-128845457
GRCh38: 7:129205616-129205616
8 SMO NM_005631.5(SMO):c.1198C>T (p.Arg400Cys) SNV Likely pathogenic 982410 GRCh37: 7:128846362-128846362
GRCh38: 7:129206521-129206521
9 GLI3 NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly) SNV Uncertain significance 435332 rs1554304659 GRCh37: 7:42005387-42005387
GRCh38: 7:41965789-41965789
10 GLI3 NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) SNV Uncertain significance 265182 rs772839719 GRCh37: 7:42005553-42005553
GRCh38: 7:41965955-41965955
11 GLI3 NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) SNV Uncertain significance 265180 rs376725882 GRCh37: 7:42187951-42187951
GRCh38: 7:42148352-42148352

Expression for Pallister-Hall-Like Syndrome

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

Pathways for Pallister-Hall-Like Syndrome

GO Terms for Pallister-Hall-Like Syndrome

Sources for Pallister-Hall-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....