KEGG DISEASE: Congenital motor nystagmus (CMN)

DISEASE: Congenital motor nystagmus (CMN)

Entry

H00776                      Disease

Name

Congenital motor nystagmus (CMN);
Idiopathic congenital nystagmus (ICN)

Description

Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occurs independent of these known ocular or systemic diseases is referred to as congenital motor nystagmus (CMN) or idiopathic congenital nystagmus (ICN). It can be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. At least six genetic loci for CMN have been suggested, including three loci for autosomal dominant CMN, and three loci for X-linked CMN. A variety of mutations in the FRMD7 gene have been identified in many families with an X-linked recessive pattern. Another mutation associated with X-linked CMN is GPR143.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Strabismus or ocular motility disorders
   9C84  Nystagmus
    H00776  Congenital motor nystagmus (CMN)
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06546  IgSF CAM signaling
   H00776  Congenital motor nystagmus (CMN)

Pathway

hsa04517

IGSF CAM signaling

Network

nt06546 IgSF CAM signaling

Gene

(NYS1) FRMD7 [HSA:90167] [KO:K23971]
(NYS6) GPR143 [HSA:4935] [KO:K08470]
(NYS8) ROBO1 [HSA:6091] [KO:K06753]

Other DBs

ICD-11:

9C84.1

MeSH:

C580539

OMIM:

310700 300814 257400

Reference

PMID:22065086

Authors

Xiao X, Li S, Guo X, Zhang Q

Title

A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.

Journal

Hum Genet 131:697-702 (2012)
DOI:10.1007/s00439-011-1113-7

Reference

PMID:17397053 (NYS1)

Authors

Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL

Title

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Journal

Hum Mutat 28:525 (2007)
DOI:10.1002/humu.9492

Reference

PMID:21423867 (NYS6)

Authors

Hu J, Liang D, Xue J, Liu J, Wu L

Title

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Journal

Mol Vis 17:715-22 (2011)

Reference

PMID:35348658 (NYS8)

Authors

Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ

Title

Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.

Journal

Hum Mol Genet 31:2751-2765 (2022)
DOI:10.1093/hmg/ddac070

LinkDB

» Japanese version

DISEASE: Combined pituitary hormone deficiency

Entry

H02036                      Disease

Name

Combined pituitary hormone deficiency

Supergrp

Growth hormone deficiency [DS:H00254]
Hypopituitarism [DS:H01700]

Description

Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes include PROP1, POU1F1, HESX1, LHX3, LHX4, and OTX2. Mutations of these transcription factor genes cause a wide range of pituitary phenotypes, from severe life-threatening CPHD to isolated GH deficiency.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain other specified disorders of pituitary gland
     H02036  Combined pituitary hormone deficiency
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06546  IgSF CAM signaling
   H02036  Combined pituitary hormone deficiency
Endocrine system
  nt06324  GHRH-GH-IGF signaling
   H02036  Combined pituitary hormone deficiency

Pathway

hsa04935

Growth hormone synthesis, secretion and action

hsa04550

Signaling pathways regulating pluripotency of stem cells

hsa04517

IGSF CAM signaling

Network

nt06324 GHRH-GH-IGF signaling
nt06546 IgSF CAM signaling

Gene

(CPHD1) POU1F1 [HSA:5449] [KO:K09363]
(CPHD2) PROP1 [HSA:5626] [KO:K09327]
(CPHD3) LHX3 [HSA:8022] [KO:K09374]
(CPHD4) LHX4 [HSA:89884] [KO:K09374]
(CPHD5) HESX1 [HSA:8820] [KO:K09354]
(CPHD6) OTX2 [HSA:5015] [KO:K18490]
(CPHD7) RNPC3 [HSA:55599] [KO:K13157]
(CPHD8) ROBO1 [HSA:6091] [KO:K06753]

Other DBs

ICD-11:

5A61.0

MeSH:

C567803 C563172 C536710 C567492

OMIM:

613038 262600 221750 262700 613986 618160 620303

Reference

PMID:26147833

Authors

De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M

Title

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

Journal

Clin Endocrinol (Oxf) 83:849-60 (2015)
DOI:10.1111/cen.12849

Reference

PMID:15928241 (CPHD1)

Authors

Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT

Title

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

Journal

J Clin Endocrinol Metab 90:4762-70 (2005)
DOI:10.1210/jc.2005-0570

Reference

PMID:11549703 (CPHD2)

Authors

Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezene F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T

Title

PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.

Journal

J Clin Endocrinol Metab 86:4529-35 (2001)
DOI:10.1210/jcem.86.9.7811

Reference

PMID:17327381 (CPHD3)

Authors

Pfaeffle RW, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Bramswig JH, Stobbe HM, Blum WF, Rhodes SJ

Title

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

Journal

J Clin Endocrinol Metab 92:1909-19 (2007)
DOI:10.1210/jc.2006-2177

Reference

PMID:11567216 (CPHD4)

Authors

Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S

Title

Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

Journal

Am J Hum Genet 69:961-8 (2001)
DOI:10.1086/323764

Reference

PMID:11136712 (CPHD5)

Authors

Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS

Title

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

Journal

Hum Mol Genet 10:39-45 (2001)
DOI:10.1093/hmg/10.1.39

Reference

PMID:18728160 (CPHD6)

Authors

Diaczok D, Romero C, Zunich J, Marshall I, Radovick S

Title

A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

Journal

J Clin Endocrinol Metab 93:4351-9 (2008)
DOI:10.1210/jc.2008-1189

Reference

PMID:32462814 (CPHD7)

Authors

Verberne EA, Faries S, Mannens MMAM, Postma AV, van Haelst MM

Title

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Journal

Am J Med Genet A 182:1952-1956 (2020)
DOI:10.1002/ajmg.a.61632

Reference

PMID:28402530 (CPHD8)

Authors

Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R

Title

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.

Journal

J Clin Endocrinol Metab 102:2401-2406 (2017)
DOI:10.1210/jc.2016-1095

LinkDB

» Japanese version

DISEASE: Neurooculorenal syndrome

Entry

H02981                      Disease

Name

Neurooculorenal syndrome

Description

Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder caused by mutations in the ROBO1 gene, characterized by kidney and genitourinary abnormalities, including unilateral or bilateral renal agenesis, vesicoureteral junction obstruction, vesicoureteral reflux, posterior urethral valve, genital malformations, and increased renal echogenicity. Additional clinical features are highly variable and may include neurodevelopmental disorders, intellectual disability, brain malformations, ocular anomalies, and cardiac defects.