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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: Anus, Imperforate (D001006)
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Growth Disorders (D006130)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Hypothyroidism (D007037)
Parent Node: Intellectual Disability (D008607)
Parent Node: Pancreatic Diseases (D010182)
..Starting node ..Johanson Blizzard syndrome (C535880)
Child Nodes:
Sister Nodes:
..Annular pancreas (C536376)
..Congenital Hyperinsulinism (D044903) 2
..Cystic Fibrosis (D003550) 4
..Exocrine Pancreatic Insufficiency (D010188) 3
..Johanson Blizzard syndrome (C535880)
..Pancreatic Agenesis, Congenital (C564908)
..Pancreatic Cyst (D010181) 2
..Pancreatic Fistula (D010185)
..Pancreatic lipomatosis duodenal stenosis (C535839)
..Pancreatic Neoplasms (D010190) 20
..Pancreatitis (D010195) 8
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5968

Name:

Johanson Blizzard syndrome

Definition:

Alternative IDs:

OMIM:243800

ParentIDs:

TreeNumbers:

C06.198.050/C535880 |C06.689/C535880 |C09.218.458.341.887/C535880 |C10.597.606.643/C535880 |C10.597.751.418.341.887/C535880 |C16.131.077.350/C535880 |C16.131.314.094/C535880 |C16.131.831.350/C535880 |C16.320.850.250/C535880 |C17.800.804.350/C535880 |C17.800.827.25

Synonyms:

Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency |JBS |Johanson-Blizzard Syndrome |Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia |Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness |Nasal Alar Hypoplasia, Hypot

Slim Mappings:

Reference:

MedGen: C535880
MeSH: C535880
OMIM: 243800;

Genes: UBR1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001597	Abnormality of the nail
3	HP:0001092	Absent lacrimal punctum
4	HP:0006349	Agenesis of permanent teeth
5	HP:0002023	Anal atresia
6	HP:0012050	Anasarca
7	HP:0001545	Anteriorly placed anus
8	HP:0007385	Aplasia cutis congenita of scalp
9	HP:0001631	Atrial septal defect
10	HP:0000957	Cafe-au-lait spot
11	HP:0001362	Calvarial skull defect
12	HP:0001396	Cholestasis	HP:0040283
13	HP:0004209	Clinodactyly of the 5th finger
14	HP:0008665	Clitoral hypertrophy
15	HP:0002253	Colonic diverticula
16	HP:0000444	Convex nasal ridge
17	HP:0000028	Cryptorchidism
18	HP:0003819	Death in childhood
19	HP:0002750	Delayed skeletal maturation
20	HP:0000819	Diabetes mellitus
21	HP:0001644	Dilated cardiomyopathy	HP:0040283
22	HP:0001738	Exocrine pancreatic insufficiency
23	HP:0001508	Failure to thrive
24	HP:0002286	Fair hair
25	HP:0002236	Frontal upsweep of hair
26	HP:0001290	Generalized hypotonia
27	HP:0001399	Hepatic failure	HP:0040283
28	HP:0000126	Hydronephrosis
29	HP:0002901	Hypocalcemia
30	HP:0006334	Hypoplasia of the primary teeth
31	HP:0002557	Hypoplastic nipples
32	HP:0000047	Hypospadias
33	HP:0000821	Hypothyroidism
34	HP:0001252	Hypotonia
35	HP:0003362	Increased VLDL cholesterol concentration
36	HP:0001249	Intellectual disability
37	HP:0001511	Intrauterine growth retardation
38	HP:0001388	Joint laxity
39	HP:0002024	Malabsorption
40	HP:0000252	Microcephaly
41	HP:0000054	Micropenis
42	HP:0005498	Midline skin dimples over anterior/posterior fontanelles
43	HP:0000143	Rectovaginal fistula
44	HP:0000407	Sensorineural hearing impairment
45	HP:0001153	Septate vagina
46	HP:0004322	Short stature
47	HP:0000954	Single transverse palmar crease
48	HP:0001696	Situs inversus totalis
49	HP:0001518	Small for gestational age
50	HP:0002209	Sparse scalp hair
51	HP:0000486	Strabismus
52	HP:0000430	Underdeveloped nasal alae
53	HP:0008716	Urethrovaginal fistula
54	HP:0001629	Ventricular septal defect

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_174916.2(UBR1):c.4107T>A (p.Cys1369Ter)	197131	UBR1	Pathogenic	797045112	RCV000190636;	N	MedGen:C0175692,OMIM:243800,ORPHA:2315,SNOMED CT:75979009	15	43276138	43276138	NM_174916.2:c.4107T>A	NP_777576.1:p.Cys1369Ter	NC_000015.9:g.43276138A>T	-	C0175692 243800 Johanson-Blizzard syndrome
NM_174916.2(UBR1):c.1537C>T (p.Gln513Ter)	197131	UBR1	Pathogenic	119477055	RCV000004944;	N	MedGen:C0175692,OMIM:243800,ORPHA:2315,SNOMED CT:75979009	15	43340592	43340592	NM_174916.2:c.1537C>T	NP_777576.1:p.Gln513Ter	NC_000015.9:g.43340592G>A	OMIM Allelic Variant:605981.0003	C0175692 243800 Johanson-Blizzard syndrome
NM_174916.2(UBR1):c.407A>G (p.His136Arg)	197131	UBR1	Pathogenic	119477054	RCV000004942;	N	MedGen:C0175692,OMIM:243800,ORPHA:2315,SNOMED CT:75979009	15	43374846	43374846	NM_174916.2:c.407A>G	NP_777576.1:p.His136Arg	NC_000015.9:g.43374846T>C	OMIM Allelic Variant:605981.0001	C0175692 243800 Johanson-Blizzard syndrome