KEGG DISEASE: Bifid nose with or without anorectal and renal anomalies

DISEASE: Bifid nose with or without anorectal and renal anomalies

Entry

H00685                      Disease

Name

Bifid nose with or without anorectal and renal anomalies;
BNAR syndrome

Description

BNAR syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations. Patients have renal agenesis, anorectal malformations ranging from anteriorly placed anus with stenosis to rectal atresia, and overlapping toes. The syndrome is caused by mutations in FREM1 that encodes an extracellular matrix component of basement membranes.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00685  Bifid nose with or without anorectal and renal anomalies
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H00685  Bifid nose with or without anorectal and renal anomalies

Pathway

hsa04518 Integrin signaling

Network

nt06548 Integrin signaling

Gene

FREM1 [HSA:158326] [KO:K23380]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C567672

OMIM:

608980

Reference

PMID:19732862

Authors

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS

Title

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Journal

Am J Hum Genet 85:414-8 (2009)
DOI:10.1016/j.ajhg.2009.08.010

Reference

PMID:11822703

Authors

Al-Gazali LI, Bakir M, Hamud OA, Gerami S

Title

An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.

Journal

Clin Dysmorphol 11:33-8 (2002)
DOI:10.1097/00019605-200201000-00007

LinkDB

» Japanese version

DISEASE: Manitoba oculotrichoanal syndrome

Entry

H00686                      Disease

Name

Manitoba oculotrichoanal syndrome

Description

Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies. MOTA syndrome is inherited in an autosomal recessive manner.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00686  Manitoba oculotrichoanal syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H00686  Manitoba oculotrichoanal syndrome

Pathway

hsa04518 Integrin signaling

Network

nt06548 Integrin signaling

Gene

FREM1 [HSA:158326] [KO:K23380]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C536022

OMIM:

248450

Reference

PMID:17352387

Authors

Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE

Title

Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

Journal

Am J Med Genet A 143A:853-7 (2007)
DOI:10.1002/ajmg.a.31446

Reference

PMID:21507892

Authors

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M

Title

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Journal

J Med Genet 48:375-82 (2011)
DOI:10.1136/jmg.2011.089631

Reference

PMID:20301721

Authors

Li C, Slavotinek A, Chudley AE

Title

Manitoba Oculotrichoanal Syndrome

Journal

GeneReviews (1993)

LinkDB

» Japanese version

DISEASE: Trigonocephaly

Entry

H01207                      Disease

Name

Trigonocephaly

Description

Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.