Pallister-Hall Syndrome [Pallisterův-Hallův syndrom]

topical
Terms

CAVE Complex
Cerebroacrovisceral Early Lethality Complex
Hall-Pallister Syndrome
Hypothalamic Hamartoblastoma Syndrome
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly

Persistent link   https://www.medvik.cz/link/D054975
Definition

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

DUI
D054975 MeSH Browser
CUI
M0511704
History note
2009
Public note
2009

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C04 Neoplasms 12 774
C04.445 Hamartoma 127
C04.445.435 Hamartoma Syndrome, Multiple 25
C04.445.622 Pallister-Hall Syndrome
C04.445.810 Tuberous Sclerosis 141
C04.588 Neoplasms by Site 77
C04.588.614 Nervous System Neoplasms 81
C04.588.614.250 Central Nervous System Neoplasms 297
C04.588.614.250.195 Brain Neoplasms 1 627
C04.588.614.250.195.885 Supratentorial Neoplasms 18
C04.588.614.250.195.885.500 Hypothalamic Neoplasms 16
C04.588.614.250.195.885.500.299 Pallister-Hall Syndrome
C04.588.614.250.195.885.500.600 Pituitary Neoplasms 400
C05 Musculoskeletal Diseases 1 120
C05.660 Musculoskeletal Abnormalities 107
C05.660.585 Limb Deformities, Congenital 125
C05.660.585.600 Polydactyly 31
C05.660.585.600.374 Pallister-Hall Syndrome
C05.660.585.600.750 Short Rib-Polydactyly Syndrome 3
C10 Nervous System Diseases 1 878
C10.228 Central Nervous System Diseases 808
C10.228.140 Brain Diseases 1 178
C10.228.140.211 Brain Neoplasms 1 627
C10.228.140.211.885 Supratentorial Neoplasms 18
C10.228.140.211.885.500 Hypothalamic Neoplasms 16
C10.228.140.211.885.500.299 Pallister-Hall Syndrome
C10.228.140.211.885.500.600 Pituitary Neoplasms 400
C10.228.140.617 Hypothalamic Diseases 35
C10.228.140.617.477 Hypothalamic Neoplasms 16
C10.228.140.617.477.299 Pallister-Hall Syndrome
C10.228.140.617.477.600 Pituitary Neoplasms 400
C10.551 Nervous System Neoplasms 81
C10.551.240 Central Nervous System Neoplasms 297
C10.551.240.250 Brain Neoplasms 1 627
C10.551.240.250.700 Supratentorial Neoplasms 18
C10.551.240.250.700.500 Hypothalamic Neoplasms 16
C10.551.240.250.700.500.249 Pallister-Hall Syndrome
C10.551.240.250.700.500.500 Pituitary Neoplasms 400
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 20
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.621 Musculoskeletal Abnormalities 107
C16.131.621.585 Limb Deformities, Congenital 125
C16.131.621.585.600 Polydactyly 31
C16.131.621.585.600.374 Pallister-Hall Syndrome
C16.131.621.585.600.750 Short Rib-Polydactyly Syndrome 3

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