skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201706 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Familial aplasia of the vermis (CUI C0431399) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0431399

NCI Thesaurus Code: C74996  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.

GARD Definition: Joubert syndrome is a disorder that affects many parts of the body.  The signs and symptoms vary among affected individuals, even among members of the same family.  The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI).  Most infants with Joubert syndrome have weak muscle tone (hypotonia), episodes of unusually fast or slow breathing (hyperpnoea) and abnormal eye movements.  Individuals with Joubert syndrome can have delayed development and mild to severe intellectual disabilities.   Distinctive facial features are also characteristic of Joubert syndrome.  Mutations in one of 10 known genes have been found in about half of all cases with Joubert syndrome and related disorders.  In the remaining cases, the genetic cause is unknown.  This condition typically has an autosomal recessive pattern of inheritance.  Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern.
- this information is from GARD/ORDR/NCATS.

HPO Definition: Congenital absence of the vermis of cerebellum. [HPO:probinson]

SNOMEDCT_US Definition: Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive.

SNOMEDCT_US Definition: A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. Patient's present with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner.

Synonyms & Abbreviations: (see Synonym Details)
Agenesis of cerebellar vermis
Arima syndrome
Cerebellar vermis agenesis
Cerebellar vermis aplasia
Cerebello-Oculo-Renal Syndrome
Cerebellooculorenal syndrome 1
Cerebelloparenchymal disorder 4
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
CORS1
CPD IV
CPD4
Familial aplasia of the vermis (disorder)
Familial Aplasia of the Vermis
familial aplasia of vermis
JBTS1
JBTS
Joubert syndrome (disorder)
Joubert syndrome 1
Joubert syndrome type A
Joubert syndrome with oculorenal defect (disorder)
Joubert syndrome with oculorenal defect
Joubert syndrome
Joubert-Boltshauser syndrome
Pure Joubert syndrome

External Source Codes: 
NCI Thesaurus Code C74996 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID X77rY SNOMEDCT_US
CTV3ID XUtaV SNOMEDCT_US
CTV3ID XUuU9 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0944-7801 CSP
DID 1254-7727 CSP
DISEASE_IDENTIFIER_ID 33146 GARD
DISEASE_IDENTIFIER_ID 33147 GARD
DISEASE_IDENTIFIER_ID 33148 GARD
DISEASE_IDENTIFIER_ID 33149 GARD
DISEASE_IDENTIFIER_ID 33150 GARD
DISEASE_IDENTIFIER_ID 4135 GARD
DISEASE_IDENTIFIER_ID 4136 GARD
DISEASE_IDENTIFIER_ID 4137 GARD
DISEASE_IDENTIFIER_ID 4138 GARD
DISEASE_IDENTIFIER_ID 4139 GARD
DISEASE_IDENTIFIER_ID 4140 GARD
DISEASE_IDENTIFIER_ID 4141 GARD
DISEASE_IDENTIFIER_ID 4142 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20160731 SNOMEDCT_US
EFFECTIVE_TIME 20170131 SNOMEDCT_US
FR 134 MSH
GENELOCUS ,9,q,3,4,.,3, OMIM
GENESYMBOL CORS1 OMIM
GENESYMBOL INPP5E OMIM
GENESYMBOL JBTS1 OMIM
GENESYMBOL MORMS OMIM
HAS_GARD_PAGE true GARD
HM D000015 MSH
HM D002531/Q000002 MSH
HM D005124 MSH
HM D012160/Q000002 MSH
HM D052177 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-05-22T00:00:00 GARD
MDA 20100825 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160707 MSH
PRIMARY_PATH 10078574$10052633$10029299$10010331$Joubert syndrome$Cerebellar disorders congenital$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 19.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6802/joubert-syndrome/resources/1 GARD
RN 0 MSH
SC 3 MSH
SID HP:0007125 HPO
SMQ_TERM_ADDVERSION 19.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 19.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMEDID D4-90058 SNOMEDCT_US
SNOMEDID R-FFE6C SNOMEDCT_US
SNOMEDID R0-00BE7 SNOMEDCT_US
SOS A clinically and genetically heterogeneous group of disorders. Brain imaging of patients shows a distinct "molar tooth sign." In infants, symptoms include hypotonia, breathing, and eye movement abnormalities, and characteristic facial features. Germline mutations in more than 10 different genes account for half all cases, including, TMEM216, TMEM237, AHI1, NPHP1, CEP290, INPP5E, and CSPP1 genes. OMIM: 213300 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q04.3 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q04.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q04.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q04.3 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X77rY SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUtaV SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUuU9 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-90058 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~R-FFE6C SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~R0-00BE7 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T000880729 MSH
TERMUI T000880730 MSH
TERMUI T000880731 MSH
TERMUI T738872 MSH
TERMUI T738873 MSH
TERMUI T738874 MSH
TERMUI T738875 MSH
TERMUI T738878 MSH
TERMUI T801871 MSH
TERMUI T826513 MSH
TH GHR (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0431399

Mainbox Bottom