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Arthrogryposis, renal dysfunction, and cholestasis 2(ARCS2)

MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
Synonyms: ARCS2; VIPAS39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
 
Gene (location): VIPAS39 (14q24.3)
 
Monarch Initiative: MONDO:0013255
OMIM®: 613404

Definition

Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085). [from OMIM]

Clinical features

From HPO
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Kidney disease
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Talipes calcaneovalgus
MedGen UID:
56270
Concept ID:
C0152237
Anatomical Abnormality
Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Right ventricular hypertrophy
MedGen UID:
57981
Concept ID:
C0162770
Disease or Syndrome
In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Giant cell hepatitis
MedGen UID:
45030
Concept ID:
C0027613
Disease or Syndrome
Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.
Cholestatic liver disease
MedGen UID:
163651
Concept ID:
C0860204
Disease or Syndrome
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Lissencephaly
MedGen UID:
78604
Concept ID:
C0266463
Finding
A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Arthrogryposis multiplex congenita
MedGen UID:
2455
Concept ID:
C0003886
Finding
Multiple congenital contractures in different body areas.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Developmental dysplasia of the hip
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Renal tubular acidosis
MedGen UID:
90
Concept ID:
C0001126
Disease or Syndrome
Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Conjugated hyperbilirubinemia
MedGen UID:
82787
Concept ID:
C0268307
Disease or Syndrome
Abnormally high level of conjugated bilirubin in the blood.
Elevated hepatic transaminase
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Sloping forehead
MedGen UID:
346640
Concept ID:
C1857679
Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Nephrogenic diabetes insipidus
MedGen UID:
57876
Concept ID:
C0162283
Disease or Syndrome
Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.

Recent clinical studies

Etiology

Ju SG, Ahn YC, Kim YB, Kim JM, Kwon DY, Park BS, Yang K
Radiat Oncol 2022 Sep 12;17(1):155. doi: 10.1186/s13014-022-02124-0. PMID: 36096874Free PMC Article
Yang SY, Oh YH
Nurse Educ Today 2022 Oct;117:105464. Epub 2022 Jul 6 doi: 10.1016/j.nedt.2022.105464. PMID: 35914345Free PMC Article
Xu Y, Xu Y, Men K, Xiao J, Dai J
Radiat Oncol 2022 May 7;17(1):86. doi: 10.1186/s13014-022-02059-6. PMID: 35526019Free PMC Article
Kindler HL, Novello S, Bearz A, Ceresoli GL, Aerts JGJV, Spicer J, Taylor P, Nackaerts K, Greystoke A, Jennens R, Calabrò L, Burgers JA, Santoro A, Cedrés S, Serwatowski P, Ponce S, Van Meerbeeck JP, Nowak AK, Blumenschein G Jr, Siegel JM, Kasten L, Köchert K, Walter AO, Childs BH, Elbi C, Hassan R, Fennell DA
Lancet Oncol 2022 Apr;23(4):540-552. doi: 10.1016/S1470-2045(22)00061-4. PMID: 35358455
Jang WY, Cho TJ, Bae JY, Jung HW, Ko JS, Park MS, Yoo WJ, Chung CY, Seo JK, Choi IH
J Pediatr Orthop 2011 Jan-Feb;31(1):107-12. doi: 10.1097/BPO.0b013e3182032c83. PMID: 21150740

Diagnosis

Shahid T, Mandal S, Biswal SS, De A, Mukherjee M, Roy Chowdhury S, Chakrapani A, George K, Bhattacharya J, Soren P, Ghosh T, Sarkar B, Cozzi L
Radiat Oncol 2022 Aug 19;17(1):145. doi: 10.1186/s13014-022-02109-z. PMID: 35986327Free PMC Article
Satomura Y, Bessho K, Nawa N, Kondo H, Ito S, Togawa T, Yano M, Yamano Y, Inoue T, Fukui M, Onuma S, Fukuoka T, Yasuda K, Kimura T, Tachibana M, Kitaoka T, Nabatame S, Ozono K
J Med Case Rep 2022 Feb 13;16(1):60. doi: 10.1186/s13256-022-03279-w. PMID: 35151346Free PMC Article
Agawu A, Sheppard S, Lin HC
J Pediatr Gastroenterol Nutr 2019 Aug;69(2):e55-e56. doi: 10.1097/MPG.0000000000002306. PMID: 31343487
Jang WY, Cho TJ, Bae JY, Jung HW, Ko JS, Park MS, Yoo WJ, Chung CY, Seo JK, Choi IH
J Pediatr Orthop 2011 Jan-Feb;31(1):107-12. doi: 10.1097/BPO.0b013e3182032c83. PMID: 21150740
Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E
Arch Dermatol 2008 Mar;144(3):334-40. doi: 10.1001/archderm.144.3.334. PMID: 18347289

Therapy

Yang SY, Oh YH
Nurse Educ Today 2022 Oct;117:105464. Epub 2022 Jul 6 doi: 10.1016/j.nedt.2022.105464. PMID: 35914345Free PMC Article
Leitão J, Bijman R, Wahab Sharfo A, Brus Y, Rossi L, Breedveld S, Heijmen B
Phys Med 2022 Sep;101:20-27. Epub 2022 Jul 16 doi: 10.1016/j.ejmp.2022.06.017. PMID: 35853387
Kindler HL, Novello S, Bearz A, Ceresoli GL, Aerts JGJV, Spicer J, Taylor P, Nackaerts K, Greystoke A, Jennens R, Calabrò L, Burgers JA, Santoro A, Cedrés S, Serwatowski P, Ponce S, Van Meerbeeck JP, Nowak AK, Blumenschein G Jr, Siegel JM, Kasten L, Köchert K, Walter AO, Childs BH, Elbi C, Hassan R, Fennell DA
Lancet Oncol 2022 Apr;23(4):540-552. doi: 10.1016/S1470-2045(22)00061-4. PMID: 35358455
He DC, Zhu ZJ, Zhang XY, Zhang Y, Hong J, Shi TT, Han JH
Cancer Radiother 2022 Jun;26(4):537-541. Epub 2021 Oct 30 doi: 10.1016/j.canrad.2021.07.037. PMID: 34728117
Tambe NS, Pires IM, Moore C, Wieczorek A, Upadhyay S, Beavis AW
Biomed Phys Eng Express 2021 Sep 22;7(6) doi: 10.1088/2057-1976/ac2635. PMID: 34517350

Prognosis

Tambe NS, Pires IM, Moore C, Wieczorek A, Upadhyay S, Beavis AW
Biomed Phys Eng Express 2021 Sep 22;7(6) doi: 10.1088/2057-1976/ac2635. PMID: 34517350
Wang JS, Zhao J, Li LT
World J Gastroenterol 2014 Apr 28;20(16):4830-4. doi: 10.3748/wjg.v20.i16.4830. PMID: 24782640Free PMC Article

Clinical prediction guides

Ju SG, Ahn YC, Kim YB, Kim JM, Kwon DY, Park BS, Yang K
Radiat Oncol 2022 Sep 12;17(1):155. doi: 10.1186/s13014-022-02124-0. PMID: 36096874Free PMC Article
Yang SY, Oh YH
Nurse Educ Today 2022 Oct;117:105464. Epub 2022 Jul 6 doi: 10.1016/j.nedt.2022.105464. PMID: 35914345Free PMC Article
Xu Y, Xu Y, Men K, Xiao J, Dai J
Radiat Oncol 2022 May 7;17(1):86. doi: 10.1186/s13014-022-02059-6. PMID: 35526019Free PMC Article
Tambe NS, Pires IM, Moore C, Wieczorek A, Upadhyay S, Beavis AW
Biomed Phys Eng Express 2021 Sep 22;7(6) doi: 10.1088/2057-1976/ac2635. PMID: 34517350
Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E
Arch Dermatol 2008 Mar;144(3):334-40. doi: 10.1001/archderm.144.3.334. PMID: 18347289

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