Details of Disease | DrugMAP

General Information of Disease (ID: DIS2QQIV)

Disease Name	NPHP3-related Meckel-like syndrome
Synonyms	Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia; renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst; Meckel syndrome 7; Meckel syndrome, type 7; NPHP3-related Meckel-like syndrome; Meckel syndrome type 7; renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Meckel-Gruber syndrome, type 7; MKS7; Meckel-like syndrome type 1; Goldston syndrome
Disease Hierarchy	DISXPHOY: Meckel syndrome DISD715V: Hereditary neurological disease DISOV08L: Central nervous system malformation DIS2QQIV: NPHP3-related Meckel-like syndrome
Disease Identifiers	MONDO ID MONDO_0009966 MESH ID C537756 UMLS CUI C2673885 OMIM ID 267010 MedGen ID 382217 Orphanet ID 3032 SNOMED CT ID 773737004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NPHP3	OT8U8ELA	Supportive	Autosomal recessive	[1]
CEP55	OTGSG2PA	Strong	Genetic Variation	[2]
TMEM67	OTME92T5	Definitive	Genetic Variation	[3]
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References

1	Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.
2	A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Clin Genet. 2017 Nov;92(5):510-516. doi: 10.1111/cge.13012. Epub 2017 May 3.
3	An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Sci Rep. 2017 May 9;7(1):1601. doi: 10.1038/s41598-017-01519-4.