Details of Disease | DrugMAP

General Information of Disease (ID: DISYNPE8)

Disease Name	Johanson-Blizzard syndrome
Synonyms	nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness; Johanson-BLIZZARD syndrome; nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness; pancreatic insufficiency, combined exocrine; Johanson-Blizzard syndrome; JBS
Definition	A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISCPWH9: Autosomal recessive disease DISKCLH4: Deafness DISD715V: Hereditary neurological disease DISRDGIM: Inherited auditory system disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISYNPE8: Johanson-Blizzard syndrome
Disease Identifiers	MONDO ID MONDO_0009479 MESH ID C535880 UMLS CUI C0175692 OMIM ID 243800 MedGen ID 59798 Orphanet ID 2315 SNOMED CT ID 75979009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UBR1	OTUR2SQ9	Definitive	Autosomal recessive	[1]
CC2D2A	OTFGRGFR	Limited	Genetic Variation	[2]
RPGRIP1L	OT6Z069I	Limited	Genetic Variation	[2]
TMEM67	OTME92T5	Limited	Biomarker	[2]
NPHP1	OTZHCFFQ	Strong	Genetic Variation	[3]
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References

1	Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20.
2	CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116.
3	DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. doi: 10.1016/j.ejmg.2007.10.001. Epub 2007 Oct 6.