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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Hamartoma (D006222)
Parent Node: Hypothalamic Neoplasms (D007029)
Parent Node: Polydactyly (D017689)
..Starting node ..Pallister-Hall Syndrome (D054975)
Child Nodes:
Sister Nodes:
..Absence of tibia with polydactyly (C535564)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..Crossed Polydactyly, Type I (C566783)
..Dandy Walker malformation postaxial polydactyly (C535771)
..Desbuquois syndrome (C535943)
..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..Garret Tripp syndrome (C535646)
..Hirschsprung disease polydactyly heart disease (C538120)
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..Holoprosencephaly 9 (C563659)
..Hydrolethalus Syndrome 1 (C565504)
..Kozlowski-Krajewska syndrome (C537615)
..Laurence Prosser Rocker syndrome (C537882)
..Liver Fibrocystic Disease and Polydactyly (C565272)
..Maroteaux Fonfria syndrome (C536023)
..McKusick Kaufman syndrome (C538159)
..Meckel Syndrome, Type 4 (C567003)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Mexican Cardiomelic Dysplasia (C563087)
..Oliver Syndrome (C564931)
..Pallister-Hall Syndrome (D054975)
..Pfeiffer Mayer syndrome (C537888)
..Polydactyly myopia syndrome (C536331)
..Polydactyly preaxial type 1 (C536332)
..Polydactyly, Postaxial (C562429)
..Polydactyly, Postaxial, Type A2 (C566585)
..Polydactyly, Postaxial, Type A3 (C564590)
..Polydactyly, Postaxial, Type A4 (C563909)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Polydactyly, preaxial 4 (C536333)
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..Polydactyly, Preaxial III (C566784)
..Polysyndactyly, Crossed (C566773)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Preaxial Hallucal Polydactyly (C566632)
..Pseudotrisomy 13 syndrome (C535829)
..Santos Mateus Leal syndrome (C537235)
..Santos Syndrome (C567819)
..Scalp defects postaxial polydactyly (C536622)
..Short Rib-Polydactyly Syndrome (D012779) 3
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..Syndactyly, Type IV (C566092)
..Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
..Synpolydactyly 2 (C564278)
..Synpolydactyly 3 (C565216)
..Synpolydactyly With Foot Anomalies (C566095)
..Thai Symphalangism Syndrome (C564303)
..Tibia absent polydactyly arachnoid cyst (C536918)
..Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..Tibia, Hypoplasia of, with Polydactyly (C566046)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
..Urioste Martinez-Frias syndrome (C536478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8522

Name:

Pallister-Hall Syndrome

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.

Alternative IDs:

OMIM:146510

ParentIDs:

MESH:D000015|MESH:D006222|MESH:D007029|MESH:D017689

TreeNumbers:

C04.445.622 |C04.588.614.250.195.885.500.299 |C05.660.585.600.374 |C10.228.140.211.885.500.299 |C10.228.140.617.477.299 |C10.551.240.250.700.500.249 |C16.131.077.690 |C16.131.621.585.600.374

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: D054975
MeSH: D054975
OMIM: 146510;

Genes: GLI3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002101	Abnormal lung lobation
3	HP:0000835	Adrenal hypoplasia	HP:0040283
4	HP:0002023	Anal atresia
5	HP:0000463	Anteverted nares	HP:0040283
6	HP:0000413	Atresia of the external auditory canal	HP:0040284
7	HP:0010564	Bifid epiglottis
8	HP:0000204	Cleft upper lip	HP:0040283
9	HP:0000028	Cryptorchidism
10	HP:0008163	Decreased circulating cortisol level
11	HP:0000824	Decreased response to growth hormone stimulation test
12	HP:0008734	Decreased testicular size
13	HP:0005280	Depressed nasal bridge	HP:0040283
14	HP:0006402	Distal shortening of limbs
15	HP:0008706	Distal urethral duplication
16	HP:0000086	Ectopic kidney	HP:0040283
17	HP:0000086	Ectopic kidney
18	HP:0001263	Global developmental delay	HP:0040284
19	HP:0002937	Hemivertebrae	HP:0040284
20	HP:0002827	Hip dislocation
21	HP:0001360	Holoprosencephaly
22	HP:0000126	Hydronephrosis
23	HP:0000072	Hydroureter
24	HP:0005349	Hypoplasia of the epiglottis
25	HP:0002444	Hypothalamic hamartoma	HP:0040284
26	HP:0001511	Intrauterine growth retardation
27	HP:0008751	Laryngeal cleft	HP:0040282
28	HP:0010112	Mesoaxial foot polydactyly
29	HP:0006159	Mesoaxial hand polydactyly
30	HP:0003027	Mesomelia	HP:0040284
31	HP:0000171	Microglossia	HP:0040283
32	HP:0000054	Micropenis
33	HP:0000568	Microphthalmia	HP:0040284
34	HP:0008551	Microtia	HP:0040284
35	HP:0007601	Midline facial capillary hemangioma	HP:0040284
36	HP:0002164	Nail dysplasia
37	HP:0000695	Natal tooth	HP:0040283
38	HP:0003811	Neonatal death
39	HP:0012165	Oligodactyly	HP:0040284
40	HP:0000871	Panhypopituitarism
41	HP:0001643	Patent ductus arteriosus	HP:0040283
42	HP:0001830	Postaxial foot polydactyly
43	HP:0001162	Postaxial hand polydactyly
44	HP:0000358	Posteriorly rotated ears	HP:0040284
45	HP:0000826	Precocious puberty
46	HP:0005151	Preductal coarctation of the aorta
47	HP:0003048	Radial head subluxation
48	HP:0000107	Renal cyst
49	HP:0000110	Renal dysplasia
50	HP:0000089	Renal hypoplasia
51	HP:0000902	Rib fusion	HP:0040284
52	HP:0001250	Seizure
53	HP:0010044	Short 4th metacarpal	HP:0040283
54	HP:0003196	Short nose
55	HP:0004322	Short stature
56	HP:0008188	Thyroid dysgenesis
57	HP:0001770	Toe syndactyly	HP:0040283
58	HP:0003828	Variable expressivity
59	HP:0001629	Ventricular septal defect
60	HP:0006042	Y-shaped metacarpals	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000168.5(GLI3):c.3481C>T (p.Gln1161Ter)	2737	GLI3	Pathogenic	116840770	RCV000031884;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005190	42005190	NM_000168.5:c.3481C>T	NP_000159.3:p.Gln1161Ter	NC_000007.13:g.42005190G>A	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.3456G>T (p.Glu1152Asp)	2737	GLI3	Pathogenic	116840769	RCV000031883;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005215	42005215	NM_000168.5:c.3456G>T	NP_000159.3:p.Glu1152Asp	NC_000007.13:g.42005215C>A	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.3439G>T (p.Glu1147Ter)	2737	GLI3	Pathogenic	116840768	RCV000014829;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005232	42005232	NM_000168.5:c.3439G>T	NP_000159.3:p.Glu1147Ter	NC_000007.13:g.42005232C>A	OMIM Allelic Variant:165240.0006	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.3386_3387delTT (p.Phe1129Terfs)	2737	GLI3	Pathogenic	281864935	RCV000031882;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005284	42005285	NM_000168.5:c.3386_3387delTT	NP_000159.3:p.Phe1129Terfs	NC_000007.13:g.42005284_42005285delAA	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.3324C>G (p.Tyr1108Ter)	2737	GLI3	Pathogenic	116840766	RCV000031881;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005347	42005347	NM_000168.5:c.3324C>G	NP_000159.3:p.Tyr1108Ter	NC_000007.13:g.42005347G>C	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.3004delG (p.Val1002Terfs)	2737	GLI3	Pathogenic	116840765	RCV000031880;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005667	42005667	NM_000168.5:c.3004delG	NP_000159.3:p.Val1002Terfs	NC_000007.13:g.42005667delC	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2935delT (p.Cys979Alafs)	2737	GLI3	Pathogenic	116840764	RCV000031879;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005736	42005736	NM_000168.5:c.2935delT	NP_000159.3:p.Cys979Alafs	NC_000007.13:g.42005736delA	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2799C>G (p.Tyr933Ter)	2737	GLI3	Pathogenic	116840763	RCV000031878;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005872	42005872	NM_000168.5:c.2799C>G	NP_000159.3:p.Tyr933Ter	NC_000007.13:g.42005872G>C	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314	2737	GLI3	Pathogenic	-1	RCV000014834;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42005900	42005901	NM_000168.5:c.2770_2771insNC_012920.1:g.12243..12314			OMIM Allelic Variant:165240.0011,dbVar:nssv3761571,dbVar:nsv1067831	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2628delC (p.Ser877Alafs)	2737	GLI3	Pathogenic	116840762	RCV000031877;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42006043	42006043	NM_000168.5:c.2628delC	NP_000159.3:p.Ser877Alafs	NC_000007.13:g.42006043delG	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2620delC (p.Arg874Alafs)	2737	GLI3	Pathogenic	116840761	RCV000031876;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42006051	42006051	NM_000168.5:c.2620delC	NP_000159.3:p.Arg874Alafs	NC_000007.13:g.42006051delG	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2567C>A (p.Ser856Ter)	2737	GLI3	Pathogenic	116840760	RCV000031875;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42006104	42006104	NM_000168.5:c.2567C>A	NP_000159.3:p.Ser856Ter	NC_000007.13:g.42006104G>T	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2483delC (p.Pro828Argfs)	2737	GLI3	Pathogenic	116840759	RCV000031874;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42006188	42006188	NM_000168.5:c.2483delC	NP_000159.3:p.Pro828Argfs	NC_000007.13:g.42006188delG	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2431+1G>A	2737	GLI3	Pathogenic	116840758	RCV000031873;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007193	42007193	NM_000168.5:c.2431+1G>A		NC_000007.13:g.42007193C>T	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2346_2356delGCTAAAACAAG (p.Arg782Serfs)	2737	GLI3	Pathogenic	116840756	RCV000031871;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007269	42007279	NM_000168.5:c.2346_2356delGCTAAAACAAG	NP_000159.3:p.Arg782Serfs	NC_000007.13:g.42007269_42007279delCTTGTTTTAGC	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2351_2355delAACAA (p.Lys784Serfs)	2737	GLI3	Pathogenic	116840757	RCV000031872;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007270	42007274	NM_000168.5:c.2351_2355delAACAA	NP_000159.3:p.Lys784Serfs	NC_000007.13:g.42007270_42007274delTTGTT	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2188_2206del19 (p.Leu730Valfs)	2737	GLI3	Pathogenic	116840754	RCV000014841;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007419	42007437	NM_000168.5:c.2188_2206del19	NP_000159.3:p.Leu730Valfs	NC_000007.13:g.42007419_42007437del19	OMIM Allelic Variant:165240.0017	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2197_2198delAC (p.Thr733Argfs)	2737	GLI3	Pathogenic	116840755	RCV000031870;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007427	42007428	NM_000168.5:c.2197_2198delAC	NP_000159.3:p.Thr733Argfs	NC_000007.13:g.42007427_42007428delGT	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2172dupC (p.Asn725Glnfs)	2737	GLI3	Pathogenic	116840753	RCV000031869;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007453	42007453	NM_000168.5:c.2172dupC	NP_000159.3:p.Asn725Glnfs	NC_000007.13:g.42007453dupG	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2157delC (p.Ile720Serfs)	2737	GLI3	Pathogenic	116840752	RCV000031868;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007468	42007468	NM_000168.5:c.2157delC	NP_000159.3:p.Ile720Serfs	NC_000007.13:g.42007468delG	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2149C>T (p.Gln717Ter)	2737	GLI3	Pathogenic	116840751	RCV000031867;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007476	42007476	NM_000168.5:c.2149C>T	NP_000159.3:p.Gln717Ter	NC_000007.13:g.42007476G>A	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2146C>T (p.Gln716Ter)	2737	GLI3	Pathogenic	116840750	RCV000031866;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007479	42007479	NM_000168.5:c.2146C>T	NP_000159.3:p.Gln716Ter	NC_000007.13:g.42007479G>A	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2139delC (p.Cys713Terfs)	2737	GLI3	Pathogenic	116840749	RCV000031865;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007486	42007486	NM_000168.5:c.2139delC	NP_000159.3:p.Cys713Terfs	NC_000007.13:g.42007486delG	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2110C>T (p.Gln704Ter)	2737	GLI3	Pathogenic	116840748	RCV000031864;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42007515	42007515	NM_000168.5:c.2110C>T	NP_000159.3:p.Gln704Ter	NC_000007.13:g.42007515G>A	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2062G>T (p.Glu688Ter)	2737	GLI3	Pathogenic	116840747	RCV000031863;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42011977	42011977	NM_000168.5:c.2062G>T	NP_000159.3:p.Glu688Ter	NC_000007.13:g.42011977C>A	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2058_2059delGGinsAT (p.Glu687Ter)	2737	GLI3	Pathogenic	116840746	RCV000031862;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42011980	42011981	NM_000168.5:c.2058_2059delGGinsAT	NP_000159.3:p.Glu687Ter	NC_000007.13:g.42011980_42011981delCCinsAT	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2032delG (p.Asp678Thrfs)	2737	GLI3	Pathogenic	116840745	RCV000031861;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42012007	42012007	NM_000168.5:c.2032delG	NP_000159.3:p.Asp678Thrfs	NC_000007.13:g.42012007delC	-	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2023delG (p.Glu675Serfs)	2737	GLI3	Pathogenic	116840744	RCV000014825;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42012016	42012016	NM_000168.5:c.2023delG	NP_000159.3:p.Glu675Serfs	NC_000007.13:g.42012016delC	OMIM Allelic Variant:165240.0002	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.2012delG (p.Gly671Glufs)	2737	GLI3	Pathogenic	116840743	RCV000014826;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42012027	42012027	NM_000168.5:c.2012delG	NP_000159.3:p.Gly671Glufs	NC_000007.13:g.42012027delC	OMIM Allelic Variant:165240.0003	C0265220 146510 Pallister-Hall syndrome
NM_000168.5(GLI3):c.1998_2001delCCGA (p.Pro668Leufs)	2737	GLI3	Pathogenic	116840742	RCV000031860;	N	MedGen:C0265220,OMIM:146510,ORPHA:672,SNOMED CT:56677004	7	42012038	42012041	NM_000168.5:c.1998_2001delCCGA	NP_000159.3:p.Pro668Leufs	NC_000007.13:g.42012038_42012041delTCGG	-	C0265220 146510 Pallister-Hall syndrome